GenTIGS

S.No.	Genetic Disorders	Aliases	Sub-Category	Gene symbol	Links	Indian context
1	Menkes disease	•Menkes kinky-hair syndrome	Mineral metabolism disorders	ATP7A ATPase copper transporting alpha	PubMed	Reports
2	Biotinidase deficiency	•Juvenile-onset multiple carboxylase deficiency • Late-onset multiple carboxylase deficiency •Biotin deficiency •BTD deficiency •Late-onset biotin-responsive multiple carboxylase deficiency	Amino acid metabolism disorders	BTD biotinidase	PubMed	Reports
3	Alkaptonuria	•Homogentisic acid oxidase deficiency •Hereditary ochronosis •Alkaptonuric ochronosis •Homogentisic acidura •Alcaptonuria •Ochronosis, hereditary	Amino acid metabolism disorders	HGD homogentisate 1,2-dioxygenase	PubMed	Reports
4	Phenylketonuria	•Phenylalanine hydroxylase deficiency •Phenylketonurias •Folling disease •Oligophrenia phenylpyruvica	Amino acid metabolism disorders	PAH phenylalanine hydroxylase COL1A1 collagen type I alpha 1 chain	PubMed	Reports
5	Amyloidosis		Protein metabolism disorders	OSMR oncostatin M receptor TTR transthyretin APOA1 apolipoprotein A1 IL31RA interleukin 31 receptor A GPNMB glycoprotein nmb	PubMed	Reports
6	Crigler-Najjar syndrome type 1	•Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 •Bilirubin-UGT deficiency type 1 •Bilirubin	Bilirubin metabolism disorders	UGT1A1 UDP glucuronosyltransferase family 1 member A1	PubMed	Reports
7	Maple syrup urine disease	•Branched-chain 2-ketoacid dehydrogenase deficiency •BCKD deficiency •BCKDH deficiency •Branched-chain ketoaciduria •MSUD	Amino acid metabolism disorders	BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha BCKDHB branched chain keto acid dehydrogenase E1 subunit beta DBT dihydrolipoamide branched chain transacylase E2	PubMed	Reports
8	Sudden infant death syndrome		Fatty acid metabolism disorders	KCNQ1 potassium voltage-gated channel subfamily Q member 1 KCNH2 potassium voltage-gated channel subfamily H member 2 SCN5A sodium voltage-gated channel alpha subunit 5 SCN4B sodium voltage-gated channel beta subunit 4 SCN1A sodium voltage-gated channel alpha subunit 1 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit CALM2 calmodulin 2	PubMed	Reports
9	Deficiency of ferroxidase	•Aceruloplasminemia •Hereditary ceruloplasmin deficiency	Mineral metabolism disorders	CP ceruloplasmin	PubMed	Reports
10	Trimethylaminuria	•Fish odor syndrome •Severe primary trimethylaminuria •TMAU	Amino acid metabolism disorders	FMO3 flavin containing dimethylaniline monoxygenase 3	PubMed	Reports
11	Adrenoleukodystrophy	•Adrenomyeloneuropathy •AMN •ALD	Peroxisomal disorders	ABCD1 ATP binding cassette subfamily D member 1	PubMed	Reports
12	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	•CA-VA deficiency	Amino acid metabolism disorders	CA5A carbonic anhydrase 5A	PubMed	Reports
13	Multiple acyl-CoA dehydrogenase deficiency	•Glutaric acidemia type 2	Fatty acid metabolism disorders	ETFDH electron transfer flavoprotein dehydrogenase ETFA electron transfer flavoprotein subunit alpha FLAD1 flavin adenine dinucleotide synthetase 1 ETFB electron transfer flavoprotein subunit beta MADD MAP kinase activating death domain	PubMed	Reports
14	Kearns-Sayre syndrome		Mitochondrial metabolism disorders	MT-TY mitochondrially encoded tRNA tyrosine	PubMed	Reports
15	Wilson disease		Mineral metabolism disorders	ATP7B ATPase copper transporting beta	PubMed	Reports
16	Aromatic L-amino acid decarboxylase deficiency		Neurotransmitter metabolism disorders	DDC dopa decarboxylase	PubMed	Reports
17	Deficiency of galactokinase	•Galactokinase deficiency •GALK deficiency •GALK-D	Carbohydrate metabolism disorders	GALK1 galactokinase 1	PubMed	Reports
18	Galactose epimerase deficiency	•UDP-galactose-4-epimerase deficiency •Uridine diphosphate galactose 4-epimerase deficiency •GALE deficiency	Carbohydrate metabolism disorders	GALE UDP-galactose-4-epimerase	PubMed	Reports
19	Galactosemia	•Galactose-1-phosphate uridyl transferase deficiency	Carbohydrate metabolism disorders	GALT galactose-1-phosphate uridylyltransferase GALM galactose mutarotase	PubMed	Reports
20	Hypophosphatasia		Mineral metabolism disorders	ALPL alkaline phosphatase, biomineralization associated	PubMed	Reports
21	Lowe syndrome	•Oculocerebrorenal syndrome of Lowe	Amino acid metabolism disorders	OCRL OCRL inositol polyphosphate-5-phosphatase	PubMed	Reports
22	Hyperphenylalaninemia due to tetrahydrobiopterin deficiency	•Tetrahydrobiopterin deficiency •Hyperphenylalaninemia •Dihydropteridine reductase deficiency	Neurotransmitter metabolism disorders	GCH1 GTP cyclohydrolase 1	PubMed	Reports
23	Wolman disease	•Lysosomal acid lipase deficiency •Acid lipase disease •Wolman disease with hypolipoproteinemia and acanthocytosis •LAL deficiency	Lipidoses, Sphingolipidosis(Lipid storage disorders)	LIPA lipase A, lysosomal acid type	PubMed	Reports
24	Alpha-1-antitrypsin deficiency		Protein metabolism disorders	SERPINA1 serpin family A member 1	PubMed	Reports
25	Arginase deficiency	•Argininemia •Hyperargininemia	Amino acid metabolism disorders	ARG1 arginase 1	PubMed	Reports
26	Acute fatty liver of pregnancy	•LCHAD deficiency •Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency •AFLP	Fatty acid metabolism disorders	HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	PubMed	Reports
27	Cystinuria	•Cystinuria-lysinuria syndrome	Amino acid metabolism disorders	SLC7A9 solute carrier family 7 member 9 SLC3A1 solute carrier family 3 member 1 CENPF centromere protein F	PubMed	Reports
28	Classic homocystinuria	•CBS deficiency •Cystathionine beta-synthase deficiency •Classical homocystinuria	Amino acid metabolism disorders	CBS cystathionine beta-synthase PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin	PubMed	Reports
29	LCAT deficiency	•Norum disease •Familial lecithin cholesterol acyltransferase deficiency •Fish-eye disease •Familial LCAT deficiency	Lipid metabolism disorders	LCAT lecithin-cholesterol acyltransferase	PubMed	Reports
30	Ethylmalonic encephalopathy	•EPEMA syndrome	Mitochondrial metabolism disorders	ETHE1 ETHE1 persulfide dioxygenase	PubMed	Reports
31	Ornithine aminotransferase deficiency	•Gyrate atrophy of choroid and retina •Hyperornithinemia •Girate atrophy	Amino acid metabolism disorders	OAT ornithine aminotransferase	PubMed	Reports
32	Congenital defect of folate absorption	•Hereditary folate malabsorption	Vitamin metabolism disorders	SLC46A1 solute carrier family 46 member 1	PubMed	Reports
33	Hereditary fructosuria	•Hereditary fructose intolerance •Hereditary fructosemia •Hereditary fructose-1-phosphate aldolase deficiency	Carbohydrate metabolism disorders	ALDOB aldolase, fructose-bisphosphate B	PubMed	Reports
34	Congenital disorder of glycosylation	•Carbohydrate-deficient glycoprotein syndrome •Carbohydrate deficient glycoprotein syndrome •CDG •Congenital disorders of glycosylation	Carbohydrate metabolism disorders	ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit PGM1 phosphoglucomutase 1 ALG3 ALG3 alpha-1,3- mannosyltransferase TUSC3 tumor suppressor candidate 3 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ALG8 ALG8 alpha-1,3-glucosyltransferase ALG9 ALG9 alpha-1,2-mannosyltransferase COG6 component of oligomeric golgi complex 6 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase COG7 component of oligomeric golgi complex 7 COG8 component of oligomeric golgi complex 8 MPDU1 mannose-P-dolichol utilization defect 1 COG2 component of oligomeric golgi complex 2 DHDDS dehydrodolichyl diphosphate synthase subunit FUT8 fucosyltransferase 8 RPN2 ribophorin II FCSK fucose kinase MAGT1 magnesium transporter 1 SRD5A3 steroid 5 alpha-reductase 3 ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase ATP6AP2 ATPase H+ transporting accessory protein 2 GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 SSR3 signal sequence receptor subunit 3 SLC37A4 solute carrier family 37 member 4 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit EDEM3 ER degradation enhancing alpha-mannosidase like protein 3 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A SLC35A2 solute carrier family 35 member A2 CAMLG calcium modulating ligand COG3 component of oligomeric golgi complex 3 CACNA1D calcium voltage-gated channel subunit alpha1 D	PubMed	Reports
35	Dicarboxylic aminoaciduria	•Glutamate-aspartate transport defect	Amino acid metabolism disorders	SLC1A1 solute carrier family 1 member 1	PubMed	Reports
36	Ornithine carbamoyltransferase deficiency	•Ornithine transcarbamylase deficiency	Urea cycle disorders - Amino acid metabolism disorders	OTC ornithine transcarbamylase	PubMed	Reports
37	Tyrosinemia type 1	•FAH deficiency •Fumarylacetoacetate hydrolase deficiency	Amino acid metabolism disorders	FAH fumarylacetoacetate hydrolase	PubMed	Reports
38	Tangier disease	•Analphalipo-proteinemia •Cholesterol thesaurismosi •Alpha high density lipoprotein deficiency disease •Tangier's disease	Lipid metabolism disorders	ABCA1 ATP binding cassette subfamily A member 1 APOA1 apolipoprotein A1	PubMed	Reports
39	Succinyl-CoA acetoacetate transferase deficiency	•SCOT Deficiency •OXCT1 deficiency •Succinyl-CoA:3-oxoacid CoA transferase deficiency	Fatty acid metabolism disorders	OXCT1 3-oxoacid CoA-transferase 1	PubMed	Reports
40	Succinate-semialdehyde dehydrogenase deficiency	•4-hydroxybutyric aciduria •Gamma-hydroxybutyricaciduria •Succinic semialdehyde dehydrogenase deficiency	Amino acid metabolism disorders	ALDH5A1 aldehyde dehydrogenase 5 family member A1	PubMed	Reports
41	Smith-Lemli-Opitz syndrome	•7-Dehydrocholesterol reductase deficiency •Lethal Acrodysgenital syndrome •RSH syndrome	Lipid metabolism disorders	DHCR7 7-dehydrocholesterol reductase	PubMed	Reports
42	Sitosterolemia	•Phytosterolemia	Lipid metabolism disorders	ABCG8 ATP binding cassette subfamily G member 8 ABCG5 ATP binding cassette subfamily G member 5	PubMed	Reports
43	Salla disease	•Free sialic acid storage disease •Infantile sialic acid storage disorder (ISSD)	Carbohydrate metabolism disorders	SLC17A5 solute carrier family 17 member 5	PubMed	Reports
44	Pyruvate dehydrogenase E1-alpha deficiency	•Pyruvate decarboxylase deficiency •PDHAD •Ataxia with lactic acidosis I •PDHAD	Carbohydrate metabolism disorders	PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 PDHX pyruvate dehydrogenase complex component X	PubMed	Reports
45	Pyridoxine-dependent epilepsy	•Vitamin B6-dependent seizures •Antiquitin deficiency •Pyridoxine dependency	Vitamin metabolism disorders	ALDH7A1 aldehyde dehydrogenase 7 family member A1	PubMed	Reports
46	Pyridoxal phosphate-responsive seizures	•PNPO deficiency •Pyridoxal 5-phosphate-dependent epilepsy •Pyridoxamine 5-prime-phosphate oxidase deficiency	Vitamin metabolism disorders	PNPO pyridoxamine 5'-phosphate oxidase	PubMed	Reports
47	Purine-nucleoside phosphorylase deficiency	•PNP deficiency •PNPase deficiency •Purine nucleoside phosphorylase deficiency	Purine metabolism disorders	PNP purine nucleoside phosphorylase	PubMed	Reports
48	Propionic acidemia	•Hyperglycinemia with ketoacidosis and leukopenia •Ketotic hyperglycinemia •Propionic aciduria •Propionyl-CoA carboxylase deficiency	Amino acid metabolism disorders	PCCB propionyl-CoA carboxylase subunit beta PCCA propionyl-CoA carboxylase subunit alpha	PubMed	Reports
49	Methylmalonic acidemia	•Methylmalonic aciduria •Isolated methylmalonic acidemia	Amino acid metabolism disorders	MCEE methylmalonyl-CoA epimerase ABCD4 ATP binding cassette subfamily D member 4 HCFC1 host cell factor C1 MMUT methylmalonyl-CoA mutase CD320 CD320 molecule MMAB metabolism of cobalamin associated B THAP11 THAP domain containing 11 MMAA metabolism of cobalamin associated A ACSF3 acyl-CoA synthetase family member 3	PubMed	Reports
50	Prolidase deficiency	•Hyperimidodipeptiduria	Peptide and amine metabolism disorders	PEPD peptidase D	PubMed	Reports
51	Familial partial lipodystrophy	•Familial partial lipodystrophy, Dunnigan type •FPLD	Lipid metabolism disorders	LMNA lamin A/C	PubMed	Reports
52	Variegate porphyria	•Protoporphyrinogen oxidase deficiency •Porphyria variegata	Porphyrin metabolism disorders	PPOX protoporphyrinogen oxidase	PubMed	Reports
53	Citrullinemia type I	•Argininosuccinate synthetase deficiency •Citrullinemia 1 •Classic citrullinemia •ASS deficiency	Urea cycle disorders - Amino acid metabolism disorders	SLC25A13 solute carrier family 25 member 13 ASS1 argininosuccinate synthase 1	PubMed	Reports
54	Mevalonic aciduria	•Complete mevalonate kinase deficiency •Mevalonate kinase deficiency •Mevalonicaciduria	Lipid metabolism disorders	MVK mevalonate kinase	PubMed	Reports
55	Maturity onset diabetes mellitus in young (MODY)	•Familial hyperinsulinism •Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young •Maturity-onset diabetes of the young type 1	Carbohydrate metabolism disorders	HNF4A hepatocyte nuclear factor 4 alpha	PubMed	Reports
56	Lysinuric protein intolerance	•Dibasicamino aciduria II •Hyperdibasic aminoaciduria •LPI	Amino acid metabolism disorders	SLC7A7 solute carrier family 7 member 7	PubMed	Reports
57	Lipid proteinosis	•Lipoid Proteinosis •LipoproteinosisHyalinosis cutis et mucosae •Urbach-Wiethe disease	Lipid metabolism disorders	ECM1 extracellular matrix protein 1	PubMed	Reports
58	Lathosterolosis	•Sterol C5-desaturase deficiency •SC5D deficiency	Lipid metabolism disorders	SC5D sterol-C5-desaturase	PubMed	Reports
59	Hereditary acrodermatitis enteropathica	•Acrodermatitis enteropathica •Inherited zinc deficiency •Acrodermatitis enteropathica zinc deficiency type •Brandt syndrome •Danbolt-Cross syndrome	Mineral metabolism disorders	SLC39A4 solute carrier family 39 member 4	PubMed	Reports
60	Acatalasia	•Acatalasemia •Catalase deficiency	Peroxisomal disorders	CAT catalase	PubMed	Reports
61	Abetalipoproteinaemia	•Abetalipoproteinemia •Abetalipoproteinemia neuropathy •Bassen Kornzweig syndrome •Betalipoprotein deficiency disease •Congenital betalipoprotein deficiency syndrome •Low-density beta lipoprotein deficiency •Microsomal-triglyceride transfer protein deficiency	Lipid metabolism disorders	MTTP microsomal triglyceride transfer protein	PubMed	Reports
62	Adenylosuccinate lyase deficiency	•ADSL deficiency •Adenylosuccinase deficiency	Amino acid metabolism disorders	ADSL adenylosuccinate lyase	PubMed	Reports
63	Adenine phosphoribosyltransferase deficiency	•APRT deficiency •Dihydroxyadeninuria •2,8-dihydroxyadenine urolithiasis	Amino acid metabolism disorders	APRT adenine phosphoribosyltransferase	PubMed	Reports
64	Acute intermittent porphyria	•Acute Porphyria •HMBS deficiency •Hydroxymethylbilane Synthase Deficiency •Porphobilinogen deaminase deficiency •Uroporphyrinogen synthase deficiency	Porphyrin metabolism disorders	HMBS hydroxymethylbilane synthase ABCB6 ATP binding cassette subfamily B member 6 (LAN blood group)	PubMed	Reports
65	Adult polyglucosan body disease	•Polyglucosan body disease, adult form	Carbohydrate metabolism disorders	GBE1 1,4-alpha-glucan branching enzyme 1	PubMed	Reports
66	Orthostatic hypotension 1	•Dopamine beta-hydroxylase deficiency •Noradrenaline deficiency •Norepinephrine deficiency •DBH deficiency •Orthostatic hypotension 1, due to DBH deficiency	Neurotransmitter metabolism disorders	DBH dopamine beta-hydroxylase	PubMed	Reports
67	Pyruvate carboxylase deficiency	•Ataxia with lactic acidosis 2 •Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency •PC deficiency	Carbohydrate metabolism disorders	PC pyruvate carboxylase	PubMed	Reports
68	Hyperprolinemia type 2	•Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency •Deficiency of pyrroline-5-carboxylate reductase •Hyperprolinemia, Type II	Amino acid metabolism disorders	ALDH4A1 aldehyde dehydrogenase 4 family member A1	PubMed	Reports
69	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	•HMG-CoA synthase deficiency •HMGCS2 deficiency •3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency •HMG-CoA synthase-2 deficiency •Mitochondrial HMG-CoA synthase deficiency	Fatty acid metabolism disorders	HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2	PubMed	Reports
70	Deficiency of acetyl-CoA acetyltransferase	•Beta-ketothiolase deficiency •2-methyl-3-hydroxybutyricacidemia •3-ketothiolase deficiency •3-oxothiolase deficiency •Alpha-methylacetoaceticaciduria •Beta ketothiolase deficiency •Ketothiolase deficiency •Mitochondrial acetoacetyl-CoA Thiolase deficiency	Fatty acid metabolism disorders	ACAT1 acetyl-CoA acetyltransferase 1	PubMed	Reports
71	Deficiency of guanidinoacetate methyltransferase	•Cerebral creatine deficiency syndrome 2 •Guanidinoacetate methyltransferase deficiency •GAMT deficiency	Amino acid metabolism disorders	GAMT guanidinoacetate N-methyltransferase	PubMed	Reports
72	Primary hyperoxaluria, type I	•Glycolic aciduria •Hepatic AGT deficiency •Primary hyperoxaluria type 1 •Oxalosis 1 •Peroxisomal alanine glyoxylate aminotransferase deficiency •Serine pyruvate aminotransferase deficiency	Carbohydrate metabolism disorders	GRHPR glyoxylate and hydroxypyruvate reductase AGXT alanine--glyoxylate aminotransferase	PubMed	Reports
73	Primary hyperoxaluria, type II	•D-glycerate dehydrogenase deficiency •L-glyceric aciduria •Glyceric aciduria •Oxalosis 2 •Primary hyperoxaluria type 2 •Glyoxylate reductase/hydroxypyruvate reductase deficiency	Carbohydrate metabolism disorders	GRHPR glyoxylate and hydroxypyruvate reductase	PubMed	Reports
74	Sulfite oxidase deficiency	•Sulfocysteinuria •ISOD •Isolated sulfite oxidase deficiency	Amino acid metabolism disorders	SUOX sulfite oxidase GPHN gephyrin MOCS2 molybdenum cofactor synthesis 2 MOCS1 molybdenum cofactor synthesis 1	PubMed	Reports
75	Non-ketotic hyperglycinemia	•Glycine encephalopathy •Nonketotic hyperglycinemia •AMT-Related Glycine Encephalopathy •GLDC-Related Glycine Encephalopathy	Amino acid metabolism disorders	AMT aminomethyltransferase GLDC glycine decarboxylase GCSH glycine cleavage system protein H PCDH19 protocadherin 19	PubMed	Reports
76	Lesch-Nyhan syndrome	•HPRT complete deficiency •Hypoxanthine guanine phosphoribosyltransferase deficiency	Purine metabolism disorders	HPRT1 hypoxanthine phosphoribosyltransferase 1	PubMed	Reports
77	Dihydropyrimidinase deficiency	•Dihydropyrimidinuria •DPH deficiency •DPYS deficiency	Pyrimidine metabolism disorders	DPYS dihydropyrimidinase	PubMed	Reports
78	Deficiency of butyrylcholinesterase	•Pseudocholinesterase deficiency •Butyrylcholinesterase deficiency •Acholinesterasemia •Acylcholine acylhydrolase deficiency •BCHE deficiency •CHE1 deficiency	Neurotransmitter metabolism disorders	BCHE butyrylcholinesterase	PubMed	Reports
79	Fumarase deficiency	•Fumaric aciduria •Fumarate hydratase deficiency	Mitochondrial metabolism disorders	FH fumarate hydratase	PubMed	Reports
80	Hypokalemic periodic paralysis, type 1	•Westphall disease •Hypokalemic periodic paralysis	Mineral metabolism disorders	CACNA1S calcium voltage-gated channel subunit alpha1 S CLCN1 chloride voltage-gated channel 1	PubMed	Reports
81	Phytanic acid storage disease	•Refsum disease •Heredopathia atactica polyneuritiformis •Hypertrophic neuropathy of Refsum •PEX7-Related Refsum disease •PHYH-Related Refsum disease •Phytanic acid oxidase deficiency •Adult Refsum disease •HMSN 4 •Hereditary motor and sensory neuropathy type 4 •Heredopathia atactica polyneuritiformis •Phytanic-CoA hydroxylase deficiency	Peroxisomal disorders	PHYH phytanoyl-CoA 2-hydroxylase PEX7 peroxisomal biogenesis factor 7	PubMed	Reports
82	Tyrosinemia type II	•TAT deficiency •Keratosis palmoplantaris with corneal dystrophy •Oculocutaneous tyrosinemia •Oregon type tyrosinemia •Richner Hanhart syndrome •Tyrosine aminotransferase deficiency •Tyrosine transaminase deficiency •Tyrosinemia type 2 •Tyrosinosis oculocutaneous type	Amino acid metabolism disorders	TAT tyrosine aminotransferase HPD 4-hydroxyphenylpyruvate dioxygenase	PubMed	Reports
83	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	•Glucose-6-phosphatase deficiency •Glucose-6-phosphatase deficiency glycogen storage disease •Glycogen Storage Disease Type Ia •Glycogen storage disease type 1A •Glycogenosis type 1 •Hepatorenal form of glycogen storage disease •Hepatorenal glycogenosis •Von Gierke disease •Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia • G6P deficiency type 1a •GSD due to G6P deficiency type Ia •GSDIa	Carbohydrate metabolism disorders	G6PC1 glucose-6-phosphatase catalytic subunit 1	PubMed	Reports
84	Glycogen storage disease type III	•Glycogen storage disease due to glycogen debranching enzyme deficiency •Amylo-1,6-glucosidase deficiency •Cori disease •Cori-Forbes disease •Forbes disease •Limit dextrinosis •GDE deficiency •GSD due to glycogen debranching enzyme deficiency •GSD type 3 •GSDIII •Glycogen storage disease type 3 •Glycogen storage disease type III	Carbohydrate metabolism disorders	AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase AFG3L2 AFG3 like matrix AAA peptidase subunit 2	PubMed	Reports
85	Glycogen storage disease, type IV	•GBE1 deficiency •Amylopectinosis •Andersen disease •Brancher deficiency •Cirrhosis, familial, with deposition of abnormal glycogen •Glycogenosis IV •GSD IV •Glycogen branching enzyme deficiency •Glycogen storage disease due to glycogen branching enzyme deficiency •Glycogen storage disease type 4	Carbohydrate metabolism disorders	GBE1 1,4-alpha-glucan branching enzyme 1 RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1	PubMed	Reports
86	Glutaric aciduria, type 1	•Glutaryl-CoA dehydrogenase deficiency •Glutaric acidemia type 1 •Glutaric acidemia type I •Glutaricacidemia Type 1 •Glutaricaciduria, type I	Amino acid metabolism disorders	GCDH glutaryl-CoA dehydrogenase	PubMed	Reports
87	Leucine-induced hypoglycemia	•Familial infantile hypoglycemia precipitated by leucine •Leucine-sensitive hypoglycemia of infancy	Carbohydrate metabolism disorders	ABCC8 ATP binding cassette subfamily C member 8	PubMed	Reports
88	Congenital glucose-galactose malabsorption	•Glucose-galactose malabsorption •SGLT1 deficiency •Complex carbohydrate intolerance •Carbohydrate intolerance of glucose galactose •Glucose galactose malabsorption deficiency •Glucose-Galactose Malabsorption •Monosaccharide malabsorption	Carbohydrate metabolism disorders	SLC5A1 solute carrier family 5 member 1	PubMed	Reports
89	Multiple mitochondrial dysfunctions syndrome 5	•ISCA1 deficiency •MMDS5	Mitochondrial metabolism disorders	ISCA1 iron-sulfur cluster assembly 1	PubMed	Reports
90	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	•Combined oxidative phosphorylation deficiency 1 •Hepatoencephalopathy, early fatal progressive	Mitochondrial metabolism disorders	GFM1 G elongation factor mitochondrial 1 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial MRPL44 mitochondrial ribosomal protein L44	PubMed	Reports
91	Combined oxidative phosphorylation defect type 27	•Combined oxidative phosphorylation deficiency 27	Mitochondrial metabolism disorders	CARS2 cysteinyl-tRNA synthetase 2, mitochondrial	PubMed	Reports
92	3-Methylglutaconic aciduria type 2	•Barth syndrome •TAZ-Related Dilated Cardiomyopathy •3-methylglutaconicaciduria type II •Cardioskeletal myopathy with neutropenia and abnormal mitochondria •MGA type II	Amino acid metabolism disorders	TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase	PubMed	Reports
93	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	•PEOA5 •Chronic Progressive External Ophthalmoplegia with Multiple mtDNA Deletions •Progressive external ophthalmoplegia, autosomal dominant 5 •RRM2B-Related chronic [rogressive external ophthalmoplegia with multiple mtDNA deletions	Mitochondrial metabolism disorders	RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B	PubMed	Reports
94	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	•Navajo neuropathy •Mitochondrial DNA depletion syndrome type 6 •Navajo neurohepatopathy	Mitochondrial metabolism disorders	MPV17 mitochondrial inner membrane protein MPV17	PubMed	Reports
95	Leber optic atrophy	•Leber's hereditary optic neuropathy (LHON) •Leber hereditary optic neuropathy •Leber's disease •Leber's optic atrophy •Optic Atrophy, Hereditary, Leber	Mitochondrial metabolism disorders	MT-CO3 mitochondrially encoded cytochrome c oxidase III MT-ND6 mitochondrially encoded NADH dehydrogenase 6 MT-ND5 mitochondrially encoded NADH dehydrogenase 5 MT-ND4L mitochondrially encoded NADH 4L dehydrogenase MT-ND4 mitochondrially encoded NADH dehydrogenase 4 MT-ND1 mitochondrially encoded NADH dehydrogenase 1 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2	PubMed	Reports
96	Progressive external ophthalmoplegia	•progressive external opthalmoplagia •Ophthalmoplegia, Chronic Progressive External	Mitochondrial metabolism disorders	TWNK twinkle mtDNA helicase POLG2 DNA polymerase gamma 2, accessory subunit RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B MT-TL1 mitochondrially encoded tRNA leucine 1 (UUA/G) POLG DNA polymerase gamma, catalytic subunit SLC25A4 solute carrier family 25 member 4 TK2 thymidine kinase 2 DGUOK deoxyguanosine kinase RNASEH1 ribonuclease H1 TOP3A DNA topoisomerase III alpha RRM1 ribonucleotide reductase catalytic subunit M1	PubMed	Reports
97	Autosomal dominant hypocalcemia	•AD hypocalcemia	Mineral metabolism disorders	CASR calcium sensing receptor GNA11 G protein subunit alpha 11	PubMed	Reports
98	Intestinal hypomagnesemia 1	•Primary hypomagnesemia with secondary hypocalcemia •Hypomagnesemia with secondary hypocalcemia •Hypomagnesemia tatany •Intestinal hypomagnesemia with secondary hypocalcemia •Hypomagnesemia caused by selective magnesium malabsorption •Hypomagnesemia intestinal type 1 •PHSH •HOMG1 •HSH	Mineral metabolism disorders	TRPM6 transient receptor potential cation channel subfamily M member 6 TRPM7 transient receptor potential cation channel subfamily M member 7	PubMed	Reports
99	Primary hypomagnesemia	•Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis •Primary hypomagnesemia with hypercalciuria and nephrocalcinosis •FHHNC syndrome •Familial hypomagnesemia, hypercalciuria with nephrocalcinosis	Mineral metabolism disorders	CLDN16 claudin 16	PubMed	Reports
100	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	•MELAS syndrome •Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes •Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes •Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes •Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes	Mitochondrial metabolism disorders	MT-TL1 mitochondrially encoded tRNA leucine 1 (UUA/G) MT-ND6 mitochondrially encoded NADH dehydrogenase 6 MT-ND5 mitochondrially encoded NADH dehydrogenase 5 MT-ND1 mitochondrially encoded NADH dehydrogenase 1 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 MT-TR mitochondrially encoded tRNA arginine MT-TH mitochondrially encoded tRNA histidine MT-TS2 mitochondrially encoded tRNA serine 2 (AGU/C) MT-TL2 mitochondrially encoded tRNA leucine 2 (CUN) MT-TE mitochondrially encoded tRNA glutamic acid MT-TT mitochondrially encoded tRNA threonine MT-TP mitochondrially encoded tRNA proline MT-TV mitochondrially encoded tRNA valine MT-TI mitochondrially encoded tRNA isoleucine MT-TQ mitochondrially encoded tRNA glutamine MT-TM mitochondrially encoded tRNA methionine MT-TW mitochondrially encoded tRNA tryptophan MT-TF mitochondrially encoded tRNA phenylalanine MT-TD mitochondrially encoded tRNA aspartic acid MT-TK mitochondrially encoded tRNA lysine MT-TG mitochondrially encoded tRNA glycine MT-CYB mitochondrially encoded cytochrome b	PubMed	Reports
101	Xanthinuria type II	•XDH and AOX dual deficiency •Xanthine dehydrogenase and aldehyde oxidase combined deficiency of Xanthinuria type 2 •Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency	Purine metabolism disorders	MOCOS molybdenum cofactor sulfurase XDH xanthine dehydrogenase	PubMed	Reports
102	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	•Ornithine translocase deficiency syndrome •HHH syndrome •ORNT1 deficiency •Ornithine carrier deficiency •Ornithine translocase deficiency •Triple H syndrome	Urea cycle disorders - Amino acid metabolism disorders	SLC25A15 solute carrier family 25 member 15	PubMed	Reports

1

Menkes disease

•Menkes kinky-hair syndrome

Mineral metabolism disorders

ATP7A ATPase copper transporting alpha

PubMed

Reports

2

Biotinidase deficiency

•Juvenile-onset multiple carboxylase deficiency
• Late-onset multiple carboxylase deficiency
•Biotin deficiency
•BTD deficiency
•Late-onset biotin-responsive multiple carboxylase deficiency

Amino acid metabolism disorders

BTD biotinidase

PubMed

Reports

3

Alkaptonuria

•Homogentisic acid oxidase deficiency
•Hereditary ochronosis
•Alkaptonuric ochronosis
•Homogentisic acidura
•Alcaptonuria
•Ochronosis, hereditary

Amino acid metabolism disorders

HGD homogentisate 1,2-dioxygenase

PubMed

Reports

4

Phenylketonuria

•Phenylalanine hydroxylase deficiency
•Phenylketonurias
•Folling disease
•Oligophrenia phenylpyruvica

Amino acid metabolism disorders

PAH phenylalanine hydroxylase
COL1A1 collagen type I alpha 1 chain

PubMed

Reports

5

Amyloidosis

Protein metabolism disorders

OSMR oncostatin M receptor
TTR transthyretin
APOA1 apolipoprotein A1
IL31RA interleukin 31 receptor A
GPNMB glycoprotein nmb

PubMed

Reports

6

Crigler-Najjar syndrome type 1

•Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1
•Bilirubin-UGT deficiency type 1
•Bilirubin

Bilirubin metabolism disorders

UGT1A1 UDP glucuronosyltransferase family 1 member A1

PubMed

Reports

7

Maple syrup urine disease

•Branched-chain 2-ketoacid dehydrogenase deficiency
•BCKD deficiency
•BCKDH deficiency
•Branched-chain ketoaciduria
•MSUD

Amino acid metabolism disorders

BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha
BCKDHB branched chain keto acid dehydrogenase E1 subunit beta
DBT dihydrolipoamide branched chain transacylase E2

PubMed

Reports

8

Sudden infant death syndrome

Fatty acid metabolism disorders

KCNQ1 potassium voltage-gated channel subfamily Q member 1
KCNH2 potassium voltage-gated channel subfamily H member 2
SCN5A sodium voltage-gated channel alpha subunit 5
SCN4B sodium voltage-gated channel beta subunit 4
SCN1A sodium voltage-gated channel alpha subunit 1
DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit
CALM2 calmodulin 2

PubMed

Reports

9

Deficiency of ferroxidase

•Aceruloplasminemia
•Hereditary ceruloplasmin deficiency

Mineral metabolism disorders

CP ceruloplasmin

PubMed

Reports

10

Trimethylaminuria

•Fish odor syndrome
•Severe primary trimethylaminuria
•TMAU

Amino acid metabolism disorders

FMO3 flavin containing dimethylaniline monoxygenase 3

PubMed

Reports

11

Adrenoleukodystrophy

•Adrenomyeloneuropathy
•AMN
•ALD

Peroxisomal disorders

ABCD1 ATP binding cassette subfamily D member 1

PubMed

Reports

12

Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

•CA-VA deficiency

Amino acid metabolism disorders

CA5A carbonic anhydrase 5A

PubMed

Reports

13

Multiple acyl-CoA dehydrogenase deficiency

•Glutaric acidemia type 2

Fatty acid metabolism disorders

ETFDH electron transfer flavoprotein dehydrogenase
ETFA electron transfer flavoprotein subunit alpha
FLAD1 flavin adenine dinucleotide synthetase 1
ETFB electron transfer flavoprotein subunit beta
MADD MAP kinase activating death domain

PubMed

Reports

14

Kearns-Sayre syndrome

Mitochondrial metabolism disorders

MT-TY mitochondrially encoded tRNA tyrosine

PubMed

Reports

15

Wilson disease

Mineral metabolism disorders

ATP7B ATPase copper transporting beta

PubMed

Reports

16

Aromatic L-amino acid decarboxylase deficiency

Neurotransmitter metabolism disorders

DDC dopa decarboxylase

PubMed

Reports

17

Deficiency of galactokinase

•Galactokinase deficiency
•GALK deficiency
•GALK-D

Carbohydrate metabolism disorders

GALK1 galactokinase 1

PubMed

Reports

18

Galactose epimerase deficiency

•UDP-galactose-4-epimerase deficiency
•Uridine diphosphate galactose 4-epimerase deficiency
•GALE deficiency

Carbohydrate metabolism disorders

GALE UDP-galactose-4-epimerase

PubMed

Reports

19

Galactosemia

•Galactose-1-phosphate uridyl transferase deficiency

Carbohydrate metabolism disorders

GALT galactose-1-phosphate uridylyltransferase
GALM galactose mutarotase

PubMed

Reports

20

Hypophosphatasia

Mineral metabolism disorders

ALPL alkaline phosphatase, biomineralization associated

PubMed

Reports

21

Lowe syndrome

•Oculocerebrorenal syndrome of Lowe

Amino acid metabolism disorders

OCRL OCRL inositol polyphosphate-5-phosphatase

PubMed

Reports

22

Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

•Tetrahydrobiopterin deficiency
•Hyperphenylalaninemia
•Dihydropteridine reductase deficiency

Neurotransmitter metabolism disorders

GCH1 GTP cyclohydrolase 1

PubMed

Reports

23

Wolman disease

•Lysosomal acid lipase deficiency
•Acid lipase disease
•Wolman disease with hypolipoproteinemia and acanthocytosis
•LAL deficiency

Lipidoses, Sphingolipidosis(Lipid storage disorders)

LIPA lipase A, lysosomal acid type

PubMed

Reports

24

Alpha-1-antitrypsin deficiency

Protein metabolism disorders

SERPINA1 serpin family A member 1

PubMed

Reports

25

Arginase deficiency

•Argininemia
•Hyperargininemia

Amino acid metabolism disorders

ARG1 arginase 1

PubMed

Reports

26

Acute fatty liver of pregnancy

•LCHAD deficiency
•Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
•AFLP

Fatty acid metabolism disorders

HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha

PubMed

Reports

27

Cystinuria

•Cystinuria-lysinuria syndrome

Amino acid metabolism disorders

SLC7A9 solute carrier family 7 member 9
SLC3A1 solute carrier family 3 member 1
CENPF centromere protein F

PubMed

Reports

28

Classic homocystinuria

•CBS deficiency
•Cystathionine beta-synthase deficiency
•Classical homocystinuria

Amino acid metabolism disorders

CBS cystathionine beta-synthase
PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin

PubMed

Reports

29

LCAT deficiency

•Norum disease
•Familial lecithin cholesterol acyltransferase deficiency
•Fish-eye disease
•Familial LCAT deficiency

Lipid metabolism disorders

LCAT lecithin-cholesterol acyltransferase

PubMed

Reports

30

Ethylmalonic encephalopathy

•EPEMA syndrome

Mitochondrial metabolism disorders

ETHE1 ETHE1 persulfide dioxygenase

PubMed

Reports

31

Ornithine aminotransferase deficiency

•Gyrate atrophy of choroid and retina
•Hyperornithinemia
•Girate atrophy

Amino acid metabolism disorders

OAT ornithine aminotransferase

PubMed

Reports

32

Congenital defect of folate absorption

•Hereditary folate malabsorption

Vitamin metabolism disorders

SLC46A1 solute carrier family 46 member 1

PubMed

Reports

33

Hereditary fructosuria

•Hereditary fructose intolerance
•Hereditary fructosemia
•Hereditary fructose-1-phosphate aldolase deficiency

Carbohydrate metabolism disorders

ALDOB aldolase, fructose-bisphosphate B

PubMed

Reports

34

Congenital disorder of glycosylation

•Carbohydrate-deficient glycoprotein syndrome
•Carbohydrate deficient glycoprotein syndrome
•CDG
•Congenital disorders of glycosylation

Carbohydrate metabolism disorders

ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase
DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic
DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit
NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit
PGM1 phosphoglucomutase 1
ALG3 ALG3 alpha-1,3- mannosyltransferase
TUSC3 tumor suppressor candidate 3
DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
ALG8 ALG8 alpha-1,3-glucosyltransferase
ALG9 ALG9 alpha-1,2-mannosyltransferase
COG6 component of oligomeric golgi complex 6
MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
COG7 component of oligomeric golgi complex 7
COG8 component of oligomeric golgi complex 8
MPDU1 mannose-P-dolichol utilization defect 1
COG2 component of oligomeric golgi complex 2
DHDDS dehydrodolichyl diphosphate synthase subunit
FUT8 fucosyltransferase 8
RPN2 ribophorin II
FCSK fucose kinase
MAGT1 magnesium transporter 1
SRD5A3 steroid 5 alpha-reductase 3
ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
ATP6AP2 ATPase H+ transporting accessory protein 2
GALNT2 polypeptide N-acetylgalactosaminyltransferase 2
SSR3 signal sequence receptor subunit 3
SLC37A4 solute carrier family 37 member 4
ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit
EDEM3 ER degradation enhancing alpha-mannosidase like protein 3
STT3A STT3 oligosaccharyltransferase complex catalytic subunit A
SLC35A2 solute carrier family 35 member A2
CAMLG calcium modulating ligand
COG3 component of oligomeric golgi complex 3
CACNA1D calcium voltage-gated channel subunit alpha1 D

PubMed

Reports

35

Dicarboxylic aminoaciduria

•Glutamate-aspartate transport defect

Amino acid metabolism disorders

SLC1A1 solute carrier family 1 member 1

PubMed

Reports

36

Ornithine carbamoyltransferase deficiency

•Ornithine transcarbamylase deficiency

Urea cycle disorders - Amino acid metabolism disorders

OTC ornithine transcarbamylase

PubMed

Reports

37

Tyrosinemia type 1

•FAH deficiency
•Fumarylacetoacetate hydrolase deficiency

Amino acid metabolism disorders

FAH fumarylacetoacetate hydrolase

PubMed

Reports

38

Tangier disease

•Analphalipo-proteinemia
•Cholesterol thesaurismosi
•Alpha high density lipoprotein deficiency disease
•Tangier's disease

Lipid metabolism disorders

ABCA1 ATP binding cassette subfamily A member 1
APOA1 apolipoprotein A1

PubMed

Reports

39

Succinyl-CoA acetoacetate transferase deficiency

•SCOT Deficiency
•OXCT1 deficiency
•Succinyl-CoA:3-oxoacid CoA transferase deficiency

Fatty acid metabolism disorders

OXCT1 3-oxoacid CoA-transferase 1

PubMed

Reports

40

Succinate-semialdehyde dehydrogenase deficiency

•4-hydroxybutyric aciduria
•Gamma-hydroxybutyricaciduria
•Succinic semialdehyde dehydrogenase deficiency

Amino acid metabolism disorders

ALDH5A1 aldehyde dehydrogenase 5 family member A1

PubMed

Reports

41

Smith-Lemli-Opitz syndrome

•7-Dehydrocholesterol reductase deficiency
•Lethal Acrodysgenital syndrome
•RSH syndrome

Lipid metabolism disorders

DHCR7 7-dehydrocholesterol reductase

PubMed

Reports

42

Sitosterolemia

•Phytosterolemia

Lipid metabolism disorders

ABCG8 ATP binding cassette subfamily G member 8
ABCG5 ATP binding cassette subfamily G member 5

PubMed

Reports

43

Salla disease

•Free sialic acid storage disease
•Infantile sialic acid storage disorder (ISSD)

Carbohydrate metabolism disorders

SLC17A5 solute carrier family 17 member 5

PubMed

Reports

44

Pyruvate dehydrogenase E1-alpha deficiency

•Pyruvate decarboxylase deficiency
•PDHAD
•Ataxia with lactic acidosis I
•PDHAD

Carbohydrate metabolism disorders

PDHA1 pyruvate dehydrogenase E1 subunit alpha 1
PDHX pyruvate dehydrogenase complex component X

PubMed

Reports

45

Pyridoxine-dependent epilepsy

•Vitamin B6-dependent seizures
•Antiquitin deficiency
•Pyridoxine dependency

Vitamin metabolism disorders

ALDH7A1 aldehyde dehydrogenase 7 family member A1

PubMed

Reports

46

Pyridoxal phosphate-responsive seizures

•PNPO deficiency
•Pyridoxal 5-phosphate-dependent epilepsy
•Pyridoxamine 5-prime-phosphate oxidase deficiency

Vitamin metabolism disorders

PNPO pyridoxamine 5'-phosphate oxidase

PubMed

Reports

47

Purine-nucleoside phosphorylase deficiency

•PNP deficiency
•PNPase deficiency
•Purine nucleoside phosphorylase deficiency

Purine metabolism disorders

PNP purine nucleoside phosphorylase

PubMed

Reports

48

Propionic acidemia

•Hyperglycinemia with ketoacidosis and leukopenia
•Ketotic hyperglycinemia
•Propionic aciduria
•Propionyl-CoA carboxylase deficiency

Amino acid metabolism disorders

PCCB propionyl-CoA carboxylase subunit beta
PCCA propionyl-CoA carboxylase subunit alpha

PubMed

Reports

49

Methylmalonic acidemia

•Methylmalonic aciduria
•Isolated methylmalonic acidemia

Amino acid metabolism disorders

MCEE methylmalonyl-CoA epimerase
ABCD4 ATP binding cassette subfamily D member 4
HCFC1 host cell factor C1
MMUT methylmalonyl-CoA mutase
CD320 CD320 molecule
MMAB metabolism of cobalamin associated B
THAP11 THAP domain containing 11
MMAA metabolism of cobalamin associated A
ACSF3 acyl-CoA synthetase family member 3

PubMed

Reports

50

Prolidase deficiency

•Hyperimidodipeptiduria

Peptide and amine metabolism disorders

PEPD peptidase D

PubMed

Reports

51

Familial partial lipodystrophy

•Familial partial lipodystrophy, Dunnigan type
•FPLD

Lipid metabolism disorders

LMNA lamin A/C

PubMed

Reports

52

Variegate porphyria

•Protoporphyrinogen oxidase deficiency
•Porphyria variegata

Porphyrin metabolism disorders

PPOX protoporphyrinogen oxidase

PubMed

Reports

53

Citrullinemia type I

•Argininosuccinate synthetase deficiency
•Citrullinemia 1
•Classic citrullinemia
•ASS deficiency

Urea cycle disorders - Amino acid metabolism disorders

SLC25A13 solute carrier family 25 member 13
ASS1 argininosuccinate synthase 1

PubMed

Reports

54

Mevalonic aciduria

•Complete mevalonate kinase deficiency
•Mevalonate kinase deficiency
•Mevalonicaciduria

Lipid metabolism disorders

MVK mevalonate kinase

PubMed

Reports

55

Maturity onset diabetes mellitus in young (MODY)

•Familial hyperinsulinism
•Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
•Maturity-onset diabetes of the young type 1

Carbohydrate metabolism disorders

HNF4A hepatocyte nuclear factor 4 alpha

PubMed

Reports

56

Lysinuric protein intolerance

•Dibasicamino aciduria II
•Hyperdibasic aminoaciduria
•LPI

Amino acid metabolism disorders

SLC7A7 solute carrier family 7 member 7

PubMed

Reports

57

Lipid proteinosis

•Lipoid Proteinosis
•LipoproteinosisHyalinosis cutis et mucosae
•Urbach-Wiethe disease

Lipid metabolism disorders

ECM1 extracellular matrix protein 1

PubMed

Reports

58

Lathosterolosis

•Sterol C5-desaturase deficiency
•SC5D deficiency

Lipid metabolism disorders

SC5D sterol-C5-desaturase

PubMed

Reports

59

Hereditary acrodermatitis enteropathica

•Acrodermatitis enteropathica
•Inherited zinc deficiency
•Acrodermatitis enteropathica zinc deficiency type
•Brandt syndrome
•Danbolt-Cross syndrome

Mineral metabolism disorders

SLC39A4 solute carrier family 39 member 4

PubMed

Reports

60

Acatalasia

•Acatalasemia
•Catalase deficiency

Peroxisomal disorders

CAT catalase

PubMed

Reports

61

Abetalipoproteinaemia

•Abetalipoproteinemia
•Abetalipoproteinemia neuropathy
•Bassen Kornzweig syndrome
•Betalipoprotein deficiency disease
•Congenital betalipoprotein deficiency syndrome
•Low-density beta lipoprotein deficiency
•Microsomal-triglyceride transfer protein deficiency

Lipid metabolism disorders

MTTP microsomal triglyceride transfer protein

PubMed

Reports

62

Adenylosuccinate lyase deficiency

•ADSL deficiency
•Adenylosuccinase deficiency

Amino acid metabolism disorders

ADSL adenylosuccinate lyase

PubMed

Reports

63

Adenine phosphoribosyltransferase deficiency

•APRT deficiency
•Dihydroxyadeninuria
•2,8-dihydroxyadenine urolithiasis

Amino acid metabolism disorders

APRT adenine phosphoribosyltransferase

PubMed

Reports

64

Acute intermittent porphyria

•Acute Porphyria
•HMBS deficiency
•Hydroxymethylbilane Synthase Deficiency
•Porphobilinogen deaminase deficiency
•Uroporphyrinogen synthase deficiency

Porphyrin metabolism disorders

HMBS hydroxymethylbilane synthase
ABCB6 ATP binding cassette subfamily B member 6 (LAN blood group)

PubMed

Reports

65

Adult polyglucosan body disease

•Polyglucosan body disease, adult form

Carbohydrate metabolism disorders

GBE1 1,4-alpha-glucan branching enzyme 1

PubMed

Reports

66

Orthostatic hypotension 1

•Dopamine beta-hydroxylase deficiency
•Noradrenaline deficiency
•Norepinephrine deficiency
•DBH deficiency
•Orthostatic hypotension 1, due to DBH deficiency

Neurotransmitter metabolism disorders

DBH dopamine beta-hydroxylase

PubMed

Reports

67

Pyruvate carboxylase deficiency

•Ataxia with lactic acidosis 2
•Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency
•PC deficiency

Carbohydrate metabolism disorders

PC pyruvate carboxylase

PubMed

Reports

68

Hyperprolinemia type 2

•Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
•Deficiency of pyrroline-5-carboxylate reductase
•Hyperprolinemia, Type II

Amino acid metabolism disorders

ALDH4A1 aldehyde dehydrogenase 4 family member A1

PubMed

Reports

69

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

•HMG-CoA synthase deficiency
•HMGCS2 deficiency
•3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency
•HMG-CoA synthase-2 deficiency
•Mitochondrial HMG-CoA synthase deficiency

Fatty acid metabolism disorders

HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2

PubMed

Reports

70

Deficiency of acetyl-CoA acetyltransferase

•Beta-ketothiolase deficiency
•2-methyl-3-hydroxybutyricacidemia
•3-ketothiolase deficiency
•3-oxothiolase deficiency
•Alpha-methylacetoaceticaciduria
•Beta ketothiolase deficiency
•Ketothiolase deficiency
•Mitochondrial acetoacetyl-CoA Thiolase deficiency

Fatty acid metabolism disorders

ACAT1 acetyl-CoA acetyltransferase 1

PubMed

Reports

71

Deficiency of guanidinoacetate methyltransferase

•Cerebral creatine deficiency syndrome 2
•Guanidinoacetate methyltransferase deficiency
•GAMT deficiency

Amino acid metabolism disorders

GAMT guanidinoacetate N-methyltransferase

PubMed

Reports

72

Primary hyperoxaluria, type I

•Glycolic aciduria
•Hepatic AGT deficiency
•Primary hyperoxaluria type 1
•Oxalosis 1
•Peroxisomal alanine glyoxylate aminotransferase deficiency
•Serine pyruvate aminotransferase deficiency

Carbohydrate metabolism disorders

GRHPR glyoxylate and hydroxypyruvate reductase
AGXT alanine--glyoxylate aminotransferase

PubMed

Reports

73

Primary hyperoxaluria, type II

•D-glycerate dehydrogenase deficiency
•L-glyceric aciduria
•Glyceric aciduria
•Oxalosis 2
•Primary hyperoxaluria type 2
•Glyoxylate reductase/hydroxypyruvate reductase deficiency

Carbohydrate metabolism disorders

GRHPR glyoxylate and hydroxypyruvate reductase

PubMed

Reports

74

Sulfite oxidase deficiency

•Sulfocysteinuria
•ISOD
•Isolated sulfite oxidase deficiency

Amino acid metabolism disorders

SUOX sulfite oxidase
GPHN gephyrin
MOCS2 molybdenum cofactor synthesis 2
MOCS1 molybdenum cofactor synthesis 1

PubMed

Reports

75

Non-ketotic hyperglycinemia

•Glycine encephalopathy
•Nonketotic hyperglycinemia
•AMT-Related Glycine Encephalopathy
•GLDC-Related Glycine Encephalopathy

Amino acid metabolism disorders

AMT aminomethyltransferase
GLDC glycine decarboxylase
GCSH glycine cleavage system protein H
PCDH19 protocadherin 19

PubMed

Reports

76

Lesch-Nyhan syndrome

•HPRT complete deficiency
•Hypoxanthine guanine phosphoribosyltransferase deficiency

Purine metabolism disorders

HPRT1 hypoxanthine phosphoribosyltransferase 1

PubMed

Reports

77

Dihydropyrimidinase deficiency

•Dihydropyrimidinuria
•DPH deficiency
•DPYS deficiency

Pyrimidine metabolism disorders

DPYS dihydropyrimidinase

PubMed

Reports

78

Deficiency of butyrylcholinesterase

•Pseudocholinesterase deficiency
•Butyrylcholinesterase deficiency
•Acholinesterasemia
•Acylcholine acylhydrolase deficiency
•BCHE deficiency
•CHE1 deficiency

Neurotransmitter metabolism disorders

BCHE butyrylcholinesterase

PubMed

Reports

79

Fumarase deficiency

•Fumaric aciduria
•Fumarate hydratase deficiency

Mitochondrial metabolism disorders

FH fumarate hydratase

PubMed

Reports

80

Hypokalemic periodic paralysis, type 1

•Westphall disease
•Hypokalemic periodic paralysis

Mineral metabolism disorders

CACNA1S calcium voltage-gated channel subunit alpha1 S
CLCN1 chloride voltage-gated channel 1

PubMed

Reports

81

Phytanic acid storage disease

•Refsum disease
•Heredopathia atactica polyneuritiformis
•Hypertrophic neuropathy of Refsum
•PEX7-Related Refsum disease
•PHYH-Related Refsum disease
•Phytanic acid oxidase deficiency
•Adult Refsum disease
•HMSN 4
•Hereditary motor and sensory neuropathy type 4
•Heredopathia atactica polyneuritiformis
•Phytanic-CoA hydroxylase deficiency

Peroxisomal disorders

PHYH phytanoyl-CoA 2-hydroxylase
PEX7 peroxisomal biogenesis factor 7

PubMed

Reports

82

Tyrosinemia type II

•TAT deficiency
•Keratosis palmoplantaris with corneal dystrophy
•Oculocutaneous tyrosinemia
•Oregon type tyrosinemia
•Richner Hanhart syndrome
•Tyrosine aminotransferase deficiency
•Tyrosine transaminase deficiency
•Tyrosinemia type 2
•Tyrosinosis oculocutaneous type

Amino acid metabolism disorders

TAT tyrosine aminotransferase
HPD 4-hydroxyphenylpyruvate dioxygenase

PubMed

Reports

83

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

•Glucose-6-phosphatase deficiency
•Glucose-6-phosphatase deficiency glycogen storage disease
•Glycogen Storage Disease Type Ia
•Glycogen storage disease type 1A
•Glycogenosis type 1
•Hepatorenal form of glycogen storage disease
•Hepatorenal glycogenosis
•Von Gierke disease
•Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
• G6P deficiency type 1a
•GSD due to G6P deficiency type Ia
•GSDIa

Carbohydrate metabolism disorders

G6PC1 glucose-6-phosphatase catalytic subunit 1

PubMed

Reports

84

Glycogen storage disease type III

•Glycogen storage disease due to glycogen debranching enzyme deficiency
•Amylo-1,6-glucosidase deficiency
•Cori disease
•Cori-Forbes disease
•Forbes disease
•Limit dextrinosis
•GDE deficiency
•GSD due to glycogen debranching enzyme deficiency
•GSD type 3
•GSDIII
•Glycogen storage disease type 3
•Glycogen storage disease type III

Carbohydrate metabolism disorders

AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AFG3L2 AFG3 like matrix AAA peptidase subunit 2

PubMed

Reports

85

Glycogen storage disease, type IV

•GBE1 deficiency
•Amylopectinosis
•Andersen disease
•Brancher deficiency
•Cirrhosis, familial, with deposition of abnormal glycogen
•Glycogenosis IV
•GSD IV
•Glycogen branching enzyme deficiency
•Glycogen storage disease due to glycogen branching enzyme deficiency
•Glycogen storage disease type 4

Carbohydrate metabolism disorders

GBE1 1,4-alpha-glucan branching enzyme 1
RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1

PubMed

Reports

86

Glutaric aciduria, type 1

•Glutaryl-CoA dehydrogenase deficiency
•Glutaric acidemia type 1
•Glutaric acidemia type I
•Glutaricacidemia Type 1
•Glutaricaciduria, type I

Amino acid metabolism disorders

GCDH glutaryl-CoA dehydrogenase

PubMed

Reports

87

Leucine-induced hypoglycemia

•Familial infantile hypoglycemia precipitated by leucine
•Leucine-sensitive hypoglycemia of infancy

Carbohydrate metabolism disorders

ABCC8 ATP binding cassette subfamily C member 8

PubMed

Reports

88

Congenital glucose-galactose malabsorption

•Glucose-galactose malabsorption
•SGLT1 deficiency
•Complex carbohydrate intolerance
•Carbohydrate intolerance of glucose galactose
•Glucose galactose malabsorption deficiency
•Glucose-Galactose Malabsorption
•Monosaccharide malabsorption

Carbohydrate metabolism disorders

SLC5A1 solute carrier family 5 member 1

PubMed

Reports

89

Multiple mitochondrial dysfunctions syndrome 5

•ISCA1 deficiency
•MMDS5

Mitochondrial metabolism disorders

ISCA1 iron-sulfur cluster assembly 1

PubMed

Reports

90

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

•Combined oxidative phosphorylation deficiency 1
•Hepatoencephalopathy, early fatal progressive

Mitochondrial metabolism disorders

GFM1 G elongation factor mitochondrial 1
NARS2 asparaginyl-tRNA synthetase 2, mitochondrial
MRPL44 mitochondrial ribosomal protein L44

PubMed

Reports

91

Combined oxidative phosphorylation defect type 27

•Combined oxidative phosphorylation deficiency 27

Mitochondrial metabolism disorders

CARS2 cysteinyl-tRNA synthetase 2, mitochondrial

PubMed

Reports

92

3-Methylglutaconic aciduria type 2

•Barth syndrome
•TAZ-Related Dilated Cardiomyopathy
•3-methylglutaconicaciduria type II
•Cardioskeletal myopathy with neutropenia and abnormal mitochondria
•MGA type II

Amino acid metabolism disorders

TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase

PubMed

Reports

93

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5

•PEOA5
•Chronic Progressive External Ophthalmoplegia with Multiple mtDNA Deletions
•Progressive external ophthalmoplegia, autosomal dominant 5
•RRM2B-Related chronic [rogressive external ophthalmoplegia with multiple mtDNA deletions

Mitochondrial metabolism disorders

RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B

PubMed

Reports

94

Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)

•Navajo neuropathy
•Mitochondrial DNA depletion syndrome type 6
•Navajo neurohepatopathy

Mitochondrial metabolism disorders

MPV17 mitochondrial inner membrane protein MPV17

PubMed

Reports

95

Leber optic atrophy

•Leber's hereditary optic neuropathy (LHON)
•Leber hereditary optic neuropathy
•Leber's disease
•Leber's optic atrophy
•Optic Atrophy, Hereditary, Leber

Mitochondrial metabolism disorders

MT-CO3 mitochondrially encoded cytochrome c oxidase III
MT-ND6 mitochondrially encoded NADH dehydrogenase 6
MT-ND5 mitochondrially encoded NADH dehydrogenase 5
MT-ND4L mitochondrially encoded NADH 4L dehydrogenase
MT-ND4 mitochondrially encoded NADH dehydrogenase 4
MT-ND1 mitochondrially encoded NADH dehydrogenase 1
NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2

PubMed

Reports

96

Progressive external ophthalmoplegia

•progressive external opthalmoplagia
•Ophthalmoplegia, Chronic Progressive External

Mitochondrial metabolism disorders

TWNK twinkle mtDNA helicase
POLG2 DNA polymerase gamma 2, accessory subunit
RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B
MT-TL1 mitochondrially encoded tRNA leucine 1 (UUA/G)
POLG DNA polymerase gamma, catalytic subunit
SLC25A4 solute carrier family 25 member 4
TK2 thymidine kinase 2
DGUOK deoxyguanosine kinase
RNASEH1 ribonuclease H1
TOP3A DNA topoisomerase III alpha
RRM1 ribonucleotide reductase catalytic subunit M1

PubMed

Reports

97

Autosomal dominant hypocalcemia

•AD hypocalcemia

Mineral metabolism disorders

CASR calcium sensing receptor
GNA11 G protein subunit alpha 11

PubMed

Reports

98

Intestinal hypomagnesemia 1

•Primary hypomagnesemia with secondary hypocalcemia
•Hypomagnesemia with secondary hypocalcemia
•Hypomagnesemia tatany
•Intestinal hypomagnesemia with secondary hypocalcemia
•Hypomagnesemia caused by selective magnesium malabsorption
•Hypomagnesemia intestinal type 1
•PHSH
•HOMG1
•HSH

Mineral metabolism disorders

TRPM6 transient receptor potential cation channel subfamily M member 6
TRPM7 transient receptor potential cation channel subfamily M member 7

PubMed

Reports

99

Primary hypomagnesemia

•Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
•Primary hypomagnesemia with hypercalciuria and nephrocalcinosis
•FHHNC syndrome
•Familial hypomagnesemia, hypercalciuria with nephrocalcinosis

Mineral metabolism disorders

CLDN16 claudin 16

PubMed

Reports

100

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

•MELAS syndrome
•Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
•Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
•Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
•Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Mitochondrial metabolism disorders

MT-TL1 mitochondrially encoded tRNA leucine 1 (UUA/G)
MT-ND6 mitochondrially encoded NADH dehydrogenase 6
MT-ND5 mitochondrially encoded NADH dehydrogenase 5
MT-ND1 mitochondrially encoded NADH dehydrogenase 1
NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1
MT-TR mitochondrially encoded tRNA arginine
MT-TH mitochondrially encoded tRNA histidine
MT-TS2 mitochondrially encoded tRNA serine 2 (AGU/C)
MT-TL2 mitochondrially encoded tRNA leucine 2 (CUN)
MT-TE mitochondrially encoded tRNA glutamic acid
MT-TT mitochondrially encoded tRNA threonine
MT-TP mitochondrially encoded tRNA proline
MT-TV mitochondrially encoded tRNA valine
MT-TI mitochondrially encoded tRNA isoleucine
MT-TQ mitochondrially encoded tRNA glutamine
MT-TM mitochondrially encoded tRNA methionine
MT-TW mitochondrially encoded tRNA tryptophan
MT-TF mitochondrially encoded tRNA phenylalanine
MT-TD mitochondrially encoded tRNA aspartic acid
MT-TK mitochondrially encoded tRNA lysine
MT-TG mitochondrially encoded tRNA glycine
MT-CYB mitochondrially encoded cytochrome b

PubMed

Reports

101

Xanthinuria type II

•XDH and AOX dual deficiency
•Xanthine dehydrogenase and aldehyde oxidase combined deficiency of Xanthinuria type 2
•Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency

Purine metabolism disorders

MOCOS molybdenum cofactor sulfurase
XDH xanthine dehydrogenase

PubMed

Reports

102

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

•Ornithine translocase deficiency syndrome
•HHH syndrome
•ORNT1 deficiency
•Ornithine carrier deficiency
•Ornithine translocase deficiency
•Triple H syndrome

Urea cycle disorders - Amino acid metabolism disorders

SLC25A15 solute carrier family 25 member 15

PubMed

Reports