GenTIGS

RGDs registry under the 'Metabolic disorders'

Disorder Name (Total=115)	Aliases	Sub-Category	Gene	Indian Reports	Link
Biotinidase deficiency Autosomal recessive	•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	Reports Updated as of Sep 15, 2022	PubMed
Menkes disease X-linked dominant	•Menkes kinky-hair syndrome	Mineral metabolism disorders	ATP7A ATPase copper transporting alpha	Reports Updated as of Sep 15, 2022	PubMed
Crigler-Najjar syndrome type 1 Autosomal recessive	•Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 •Bilirubin-UGT deficiency type 1 •Bilirubin	Bilirubin metabolism disorders	UGT1A1 UDP glucuronosyltransferase family 1 member A1	Reports Updated as of Sep 15, 2022	PubMed
Amyloidosis		Protein metabolism disorders	OSMR oncostatin M receptor TTR transthyretin APOA1 apolipoprotein A1 IL31RA interleukin 31 receptor A GPNMB glycoprotein nmb	Reports Updated as of Sep 15, 2022	PubMed
Alkaptonuria Autosomal recessive	•Homogentisic acid oxidase deficiency •Hereditary ochronosis •Alkaptonuric ochronosis •Homogentisic acidura •Alcaptonuria •Ochronosis, hereditary	Amino acid metabolism disorders	HGD homogentisate 1,2-dioxygenase	Reports Updated as of Sep 15, 2022	PubMed
Phenylketonuria Autosomal recessive	•Phenylalanine hydroxylase deficiency •Phenylketonurias •Folling disease •Oligophrenia phenylpyruvica	Amino acid metabolism disorders	PAH phenylalanine hydroxylase COL1A1 collagen type I alpha 1 chain	Reports Updated as of Sep 15, 2022	PubMed
Maple syrup urine disease Autosomal recessive	•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	Reports Updated as of Mar 09, 2023	PubMed
Sudden infant death syndrome Autosomal recessive		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	Reports Updated as of Mar 09, 2023	PubMed
Deficiency of ferroxidase Autosomal recessive	•Aceruloplasminemia •Hereditary ceruloplasmin deficiency	Mineral metabolism disorders	CP ceruloplasmin	Reports Updated as of Mar 09, 2023	PubMed
Trimethylaminuria Autosomal recessive	•Fish odor syndrome •Severe primary trimethylaminuria •TMAU	Amino acid metabolism disorders	FMO3 flavin containing dimethylaniline monoxygenase 3	Reports Updated as of Mar 09, 2023	PubMed
Adrenoleukodystrophy X-linked dominant	•Adrenomyeloneuropathy •AMN •ALD	Peroxisomal disorders	ABCD1 ATP binding cassette subfamily D member 1	Reports Updated as of Mar 09, 2023	PubMed
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Autosomal recessive	•CA-VA deficiency	Amino acid metabolism disorders	CA5A carbonic anhydrase 5A	Reports Updated as of Mar 09, 2023	PubMed
Multiple acyl-CoA dehydrogenase deficiency Autosomal recessive	•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	Reports Updated as of Mar 09, 2023	PubMed
Kearns-Sayre syndrome Autosomal recessive, MT inheritance		Mitochondrial metabolism disorders	MT-TY mitochondrially encoded tRNA tyrosine	Reports Updated as of May 24, 2023	PubMed
Galactose epimerase deficiency Autosomal recessive	•UDP-galactose-4-epimerase deficiency •Uridine diphosphate galactose 4-epimerase deficiency •GALE deficiency	Carbohydrate metabolism disorders	GALE UDP-galactose-4-epimerase	Reports Updated as of Sep 05, 2023	PubMed
Lowe syndrome X-linked dominant	•Oculocerebrorenal syndrome of Lowe	Amino acid metabolism disorders	OCRL OCRL inositol polyphosphate-5-phosphatase	Reports Updated as of Sep 05, 2023	PubMed
Hypophosphatasia Autosomal dominant, Autosomal recessive		Mineral metabolism disorders	ALPL alkaline phosphatase, biomineralization associated	Reports Updated as of Sep 05, 2023	PubMed
Galactosemia Autosomal recessive	•Galactose-1-phosphate uridyl transferase deficiency	Carbohydrate metabolism disorders	GALT galactose-1-phosphate uridylyltransferase GALM galactose mutarotase	Reports Updated as of Sep 05, 2023	PubMed
Deficiency of galactokinase Autosomal recessive	•Galactokinase deficiency •GALK deficiency •GALK-D	Carbohydrate metabolism disorders	GALK1 galactokinase 1	Reports Updated as of Sep 05, 2023	PubMed
Wilson disease Autosomal recessive		Mineral metabolism disorders	ATP7B ATPase copper transporting beta	Reports Updated as of Sep 05, 2023	PubMed
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Autosomal recessive	•Tetrahydrobiopterin deficiency •Hyperphenylalaninemia •Dihydropteridine reductase deficiency	Neurotransmitter metabolism disorders	GCH1 GTP cyclohydrolase 1	Reports Updated as of Nov 02, 2023	PubMed
Wolman disease Autosomal recessive	•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	Reports Updated as of Nov 02, 2023	PubMed
Alpha-1-antitrypsin deficiency Autosomal recessive		Protein metabolism disorders	SERPINA1 serpin family A member 1	Reports Updated as of Nov 02, 2023	PubMed
Arginase deficiency Autosomal recessive	•Argininemia •Hyperargininemia	Amino acid metabolism disorders	ARG1 arginase 1	Reports Updated as of Nov 30, 2023	PubMed
Acute fatty liver of pregnancy Autosomal recessive	•LCHAD deficiency •Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency •AFLP	Fatty acid metabolism disorders	HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	Reports Updated as of Nov 30, 2023	PubMed
Cystinuria Autosomal dominant, Autosomal recessive	•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	Reports Updated as of Nov 30, 2023	PubMed
Classic homocystinuria Autosomal recessive	•CBS deficiency •Cystathionine beta-synthase deficiency •Classical homocystinuria	Amino acid metabolism disorders	CBS cystathionine beta-synthase PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin	Reports Updated as of Nov 30, 2023	PubMed
Hereditary fructosuria Autosomal recessive	•Hereditary fructose intolerance •Hereditary fructosemia •Hereditary fructose-1-phosphate aldolase deficiency	Carbohydrate metabolism disorders	ALDOB aldolase, fructose-bisphosphate B	Reports Updated as of Dec 07, 2023	PubMed
Congenital defect of folate absorption Autosomal recessive	•Hereditary folate malabsorption	Vitamin metabolism disorders	SLC46A1 solute carrier family 46 member 1	Reports Updated as of Dec 07, 2023	PubMed
Ethylmalonic encephalopathy Autosomal recessive	•EPEMA syndrome	Mitochondrial metabolism disorders	ETHE1 ETHE1 persulfide dioxygenase	Reports Updated as of Dec 07, 2023	PubMed
LCAT deficiency Autosomal recessive	•Norum disease •Familial lecithin cholesterol acyltransferase deficiency •Fish-eye disease •Familial LCAT deficiency	Lipid metabolism disorders	LCAT lecithin-cholesterol acyltransferase	Reports Updated as of Dec 07, 2023	PubMed
Ornithine aminotransferase deficiency Autosomal recessive	•Gyrate atrophy of choroid and retina •Hyperornithinemia •Girate atrophy	Amino acid metabolism disorders	OAT ornithine aminotransferase	Reports Updated as of Dec 07, 2023	PubMed
Succinate-semialdehyde dehydrogenase deficiency Autosomal recessive	•4-hydroxybutyric aciduria •Gamma-hydroxybutyricaciduria •Succinic semialdehyde dehydrogenase deficiency	Amino acid metabolism disorders	ALDH5A1 aldehyde dehydrogenase 5 family member A1	Reports Updated as of Dec 29, 2023	PubMed
Salla disease Autosomal recessive	•Free sialic acid storage disease •Infantile sialic acid storage disorder (ISSD)	Carbohydrate metabolism disorders	SLC17A5 solute carrier family 17 member 5	Reports Updated as of Dec 29, 2023	PubMed
Sitosterolemia Autosomal recessive	•Phytosterolemia	Lipid metabolism disorders	ABCG8 ATP binding cassette subfamily G member 8 ABCG5 ATP binding cassette subfamily G member 5	Reports Updated as of Dec 29, 2023	PubMed
Smith-Lemli-Opitz syndrome Autosomal recessive	•7-Dehydrocholesterol reductase deficiency •Lethal Acrodysgenital syndrome •RSH syndrome	Lipid metabolism disorders	DHCR7 7-dehydrocholesterol reductase	Reports Updated as of Dec 29, 2023	PubMed
Succinyl-CoA acetoacetate transferase deficiency Autosomal recessive	•SCOT Deficiency •OXCT1 deficiency •Succinyl-CoA:3-oxoacid CoA transferase deficiency	Fatty acid metabolism disorders	OXCT1 3-oxoacid CoA-transferase 1	Reports Updated as of Dec 29, 2023	PubMed
Tangier disease Autosomal recessive	•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	Reports Updated as of Dec 29, 2023	PubMed
Tyrosinemia type 1 Autosomal recessive	•FAH deficiency •Fumarylacetoacetate hydrolase deficiency	Amino acid metabolism disorders	FAH fumarylacetoacetate hydrolase	Reports Updated as of Dec 29, 2023	PubMed
Ornithine carbamoyltransferase deficiency X-linked dominant	•Ornithine transcarbamylase deficiency	Urea cycle disorders - Amino acid metabolism disorders	OTC ornithine transcarbamylase	Reports Updated as of Dec 29, 2023	PubMed
Dicarboxylic aminoaciduria Autosomal recessive	•Glutamate-aspartate transport defect	Amino acid metabolism disorders	SLC1A1 solute carrier family 1 member 1	Reports Updated as of Dec 29, 2023	PubMed
Congenital disorder of glycosylation Autosomal recessive	•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	Reports Updated as of Dec 29, 2023	PubMed
Pyridoxine-dependent epilepsy Autosomal recessive	•Vitamin B6-dependent seizures •Antiquitin deficiency •Pyridoxine dependency	Vitamin metabolism disorders	ALDH7A1 aldehyde dehydrogenase 7 family member A1	Reports Updated as of Jan 04, 2024	PubMed
Maturity onset diabetes mellitus in young (MODY) Autosomal dominant	•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	Reports Updated as of Jan 04, 2024	PubMed
Variegate porphyria Autosomal dominant	•Protoporphyrinogen oxidase deficiency •Porphyria variegata	Porphyrin metabolism disorders	PPOX protoporphyrinogen oxidase	Reports Updated as of Jan 04, 2024	PubMed
Familial partial lipodystrophy Autosomal dominant	•Familial partial lipodystrophy, Dunnigan type •FPLD	Lipid metabolism disorders	LMNA lamin A/C	Reports Updated as of Jan 04, 2024	PubMed
Prolidase deficiency Autosomal recessive	•Hyperimidodipeptiduria	Peptide and amine metabolism disorders	PEPD peptidase D	Reports Updated as of Jan 04, 2024	PubMed
Methylmalonic acidemia Autosomal recessive	•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	Reports Updated as of Jan 04, 2024	PubMed
Propionic acidemia Autosomal recessive	•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	Reports Updated as of Jan 04, 2024	PubMed
Purine-nucleoside phosphorylase deficiency Autosomal recessive	•PNP deficiency •PNPase deficiency •Purine nucleoside phosphorylase deficiency	Purine metabolism disorders	PNP purine nucleoside phosphorylase	Reports Updated as of Jan 04, 2024	PubMed
Pyridoxal phosphate-responsive seizures Autosomal recessive	•PNPO deficiency •Pyridoxal 5-phosphate-dependent epilepsy •Pyridoxamine 5-prime-phosphate oxidase deficiency	Vitamin metabolism disorders	PNPO pyridoxamine 5'-phosphate oxidase	Reports Updated as of Jan 04, 2024	PubMed
Pyruvate dehydrogenase E1-alpha deficiency X-linked recessive	•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	Reports Updated as of Jan 04, 2024	PubMed
Adult polyglucosan body disease Autosomal recessive	•Polyglucosan body disease, adult form	Carbohydrate metabolism disorders	GBE1 1,4-alpha-glucan branching enzyme 1	Reports Updated as of Feb 01, 2024	PubMed
Acute intermittent porphyria Autosomal dominant	•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)	Reports Updated as of Feb 01, 2024	PubMed
Adenine phosphoribosyltransferase deficiency Autosomal recessive	•APRT deficiency •Dihydroxyadeninuria •2,8-dihydroxyadenine urolithiasis	Amino acid metabolism disorders	APRT adenine phosphoribosyltransferase	Reports Updated as of Feb 01, 2024	PubMed
Adenylosuccinate lyase deficiency Autosomal recessive	•ADSL deficiency •Adenylosuccinase deficiency	Amino acid metabolism disorders	ADSL adenylosuccinate lyase	Reports Updated as of Feb 01, 2024	PubMed
Abetalipoproteinaemia Autosomal recessive	•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	Reports Updated as of Feb 01, 2024	PubMed
Hereditary acrodermatitis enteropathica Autosomal recessive	•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	Reports Updated as of Feb 01, 2024	PubMed
Lathosterolosis Autosomal recessive	•Sterol C5-desaturase deficiency •SC5D deficiency	Lipid metabolism disorders	SC5D sterol-C5-desaturase	Reports Updated as of Feb 01, 2024	PubMed
Lipid proteinosis Autosomal recessive	•Lipoid Proteinosis •LipoproteinosisHyalinosis cutis et mucosae •Urbach-Wiethe disease	Lipid metabolism disorders	ECM1 extracellular matrix protein 1	Reports Updated as of Feb 01, 2024	PubMed
Lysinuric protein intolerance Autosomal recessive	•Dibasicamino aciduria II •Hyperdibasic aminoaciduria •LPI	Amino acid metabolism disorders	SLC7A7 solute carrier family 7 member 7	Reports Updated as of Feb 01, 2024	PubMed
Mevalonic aciduria Autosomal recessive	•Complete mevalonate kinase deficiency •Mevalonate kinase deficiency •Mevalonicaciduria	Lipid metabolism disorders	MVK mevalonate kinase	Reports Updated as of Feb 01, 2024	PubMed
Citrullinemia type I Autosomal recessive	•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	Reports Updated as of Feb 01, 2024	PubMed
Acatalasia Autosomal recessive	•Acatalasemia •Catalase deficiency	Peroxisomal disorders	CAT catalase	Reports Updated as of Feb 01, 2024	PubMed
Lesch-Nyhan syndrome X-linked dominant	•HPRT complete deficiency •Hypoxanthine guanine phosphoribosyltransferase deficiency	Purine metabolism disorders	HPRT1 hypoxanthine phosphoribosyltransferase 1	Reports Updated as of Feb 20, 2024	PubMed
Phytanic acid storage disease Autosomal recessive	•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	Reports Updated as of Feb 20, 2024	PubMed
Hypokalemic periodic paralysis, type 1 Autosomal dominant	•Westphall disease •Hypokalemic periodic paralysis	Mineral metabolism disorders	CACNA1S calcium voltage-gated channel subunit alpha1 S CLCN1 chloride voltage-gated channel 1	Reports Updated as of Feb 20, 2024	PubMed
Fumarase deficiency Autosomal recessive	•Fumaric aciduria •Fumarate hydratase deficiency	Mitochondrial metabolism disorders	FH fumarate hydratase	Reports Updated as of Feb 20, 2024	PubMed
Deficiency of butyrylcholinesterase Autosomal recessive	•Pseudocholinesterase deficiency •Butyrylcholinesterase deficiency •Acholinesterasemia •Acylcholine acylhydrolase deficiency •BCHE deficiency •CHE1 deficiency	Neurotransmitter metabolism disorders	BCHE butyrylcholinesterase	Reports Updated as of Feb 20, 2024	PubMed
Dihydropyrimidinase deficiency Autosomal recessive	•Dihydropyrimidinuria •DPH deficiency •DPYS deficiency	Pyrimidine metabolism disorders	DPYS dihydropyrimidinase	Reports Updated as of Feb 20, 2024	PubMed
Non-ketotic hyperglycinemia Autosomal recessive	•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	Reports Updated as of Feb 20, 2024	PubMed
Sulfite oxidase deficiency Autosomal recessive	•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	Reports Updated as of Feb 20, 2024	PubMed
Primary hyperoxaluria, type I Autosomal recessive	•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	Reports Updated as of Feb 20, 2024	PubMed
Primary hyperoxaluria, type II Autosomal recessive	•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	Reports Updated as of Feb 20, 2024	PubMed
Deficiency of guanidinoacetate methyltransferase Autosomal recessive	•Cerebral creatine deficiency syndrome 2 •Guanidinoacetate methyltransferase deficiency •GAMT deficiency	Amino acid metabolism disorders	GAMT guanidinoacetate N-methyltransferase	Reports Updated as of Feb 20, 2024	PubMed
Deficiency of acetyl-CoA acetyltransferase Autosomal recessive	•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	Reports Updated as of Feb 20, 2024	PubMed
3-hydroxy-3-methylglutaryl-CoA synthase deficiency Autosomal recessive	•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	Reports Updated as of Feb 20, 2024	PubMed
Hyperprolinemia type 2 Autosomal recessive	•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	Reports Updated as of Feb 20, 2024	PubMed
Pyruvate carboxylase deficiency Autosomal recessive	•Ataxia with lactic acidosis 2 •Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency •PC deficiency	Carbohydrate metabolism disorders	PC pyruvate carboxylase	Reports Updated as of Feb 20, 2024	PubMed
Orthostatic hypotension 1 Autosomal recessive	•Dopamine beta-hydroxylase deficiency •Noradrenaline deficiency •Norepinephrine deficiency •DBH deficiency •Orthostatic hypotension 1, due to DBH deficiency	Neurotransmitter metabolism disorders	DBH dopamine beta-hydroxylase	Reports Updated as of Feb 20, 2024	PubMed
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 Autosomal dominant	•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	Reports Updated as of Jul 20, 2024	PubMed
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Autosomal recessive	•Navajo neuropathy •Mitochondrial DNA depletion syndrome type 6 •Navajo neurohepatopathy	Mitochondrial metabolism disorders	MPV17 mitochondrial inner membrane protein MPV17	Reports Updated as of Jul 20, 2024	PubMed
Leber optic atrophy MT inheritance	•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	Reports Updated as of Jul 20, 2024	PubMed
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	Reports Updated as of Jul 20, 2024	PubMed
Autosomal dominant hypocalcemia Autosomal dominant	•AD hypocalcemia	Mineral metabolism disorders	CASR calcium sensing receptor GNA11 G protein subunit alpha 11	Reports Updated as of Jul 20, 2024	PubMed
Intestinal hypomagnesemia 1 Autosomal recessive	•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	Reports Updated as of Jul 20, 2024	PubMed
Primary hypomagnesemia Autosomal recessive	•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	Reports Updated as of Jul 20, 2024	PubMed
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke MT inheritance	•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	Reports Updated as of Jul 20, 2024	PubMed
Xanthinuria type II Autosomal recessive	•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	Reports Updated as of Jul 20, 2024	PubMed
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Autosomal recessive	•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	Reports Updated as of Jul 20, 2024	PubMed
Congenital glucose-galactose malabsorption Autosomal recessive	•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	Reports Updated as of Jul 20, 2024	PubMed
Combined oxidative phosphorylation defect type 27 Autosomal recessive	•Combined oxidative phosphorylation deficiency 27	Mitochondrial metabolism disorders	CARS2 cysteinyl-tRNA synthetase 2, mitochondrial	Reports Updated as of Jul 20, 2024	PubMed
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Autosomal recessive	•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	Reports Updated as of Jul 20, 2024	PubMed
Multiple mitochondrial dysfunctions syndrome 5 Autosomal recessive	•ISCA1 deficiency •MMDS5	Mitochondrial metabolism disorders	ISCA1 iron-sulfur cluster assembly 1	Reports Updated as of Jul 20, 2024	PubMed
Leucine-induced hypoglycemia Autosomal dominant	•Familial infantile hypoglycemia precipitated by leucine •Leucine-sensitive hypoglycemia of infancy	Carbohydrate metabolism disorders	ABCC8 ATP binding cassette subfamily C member 8	Reports Updated as of Jul 20, 2024	PubMed
Glutaric aciduria, type 1 Autosomal recessive	•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	Reports Updated as of Jul 20, 2024	PubMed
Glycogen storage disease, type IV Autosomal recessive	•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	Reports Updated as of Jul 20, 2024	PubMed
Glycogen storage disease type III Autosomal recessive	•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	Reports Updated as of Jul 20, 2024	PubMed
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA Autosomal recessive	•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	Reports Updated as of Jul 20, 2024	PubMed
Tyrosinemia type II Autosomal recessive	•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	Reports Updated as of Jul 20, 2024	PubMed
3-Methylglutaconic aciduria type 2 X-linked dominant	•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	Reports Updated as of Jul 20, 2024	PubMed
Very long chain acyl-CoA dehydrogenase deficiency Autosomal recessive	•VLCAD Deficiency •acyl-CoA dehydrogenase, very long-chain deficiency •very long-chain acyl-CoA dehydrogenase deficiency •very long-chain acyl-Coenzyme A dehydrogenase deficiency •VLCAD	Fatty acid metabolism disorders	ACADVL acyl-CoA dehydrogenase very long chain ACADL acyl-CoA dehydrogenase long chain	Reports Updated as of Feb 01, 2025	PubMed
Myopathy, lactic acidosis, and sideroblastic anemia 1 Autosomal recessive		Mitochondrial metabolism disorders	PUS1 pseudouridine synthase 1	Reports Updated as of Feb 01, 2025	PubMed
Glycogen storage disease, type V Autosomal recessive	•Mcardle disease •glycogen storage disease caused by mutation in PYGM •glycogen storage disease type 5 •glycogen storage disease type V •glycogen storage disease, type V •glycogenosis due to muscle glycogen phosphorylase deficiency •glycogenosis type 5 •glycogenosis type V •GSD due to muscle glycogen phosphorylase deficiency •GSD type 5 •GSD type V •McArdle's disease •myophosphorylase deficiency •PYGM glycogen storage disease •GSD 5 •muscle glycogen phosphorylase deficiency •McArdle type glycogen storage disease •pygm deficiency	Carbohydrate metabolism disorders	PFKM phosphofructokinase, muscle PYGM glycogen phosphorylase, muscle associated PYGL glycogen phosphorylase L	Reports Updated as of Feb 01, 2025	PubMed
Pyruvate kinase deficiency of red cells Autosomal recessive	•Hemolytic anemia due to red cell pyruvate kinase deficiency •hemolytic anaemia due to red cell pyruvate kinase deficiency •hemolytic Anemia due to pyruvate Kinase deficiency •hemolytic anemia due to red cell pyruvate kinase deficiency •pyruvate kinase deficiency of erythrocytes •PK deficiency •Pyruvate kinase deficiency of erythrocyte •Pyruvate kinase deficiency •Pyruvate kinase deficiency of erythrocytes •Pyruvate kinase deficiency,amish type	Carbohydrate metabolism disorders	PKLR pyruvate kinase L/R	Reports Updated as of Feb 01, 2025	PubMed
Congenital generalized lipodystrophy type 1 Autosomal recessive	•AGPAT2 congenital generalised lipodystrophy (disease) •AGPAT2 congenital generalized lipodystrophy (disease) •Berardinelli-Seip congenital lipodystrophy, type 1 •Brunzell syndrome AGPAT2-related • BSCL1 • CGL1 •congenital generalised lipodystrophy (disease) caused by mutation in AGPAT2 •congenital generalized lipodystrophy (disease) caused by mutation in AGPAT2	Lipid metabolism disorders	AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2	Reports Updated as of Feb 01, 2025	PubMed
Myoglobinuria, acute recurrent, autosomal recessive Autosomal recessive	•myoglobinuria, familial paroxysmal paralytic •myoglobinuria, recurrent, autosomal recessive •rhabdomyolysis, acute recurrent	Carbohydrate metabolism disorders	LPIN1 lipin 1	Reports Updated as of Feb 01, 2025	PubMed
Carnitine acylcarnitine translocase deficiency Autosomal recessive	•Carnitine-acylcarnitine translocase deficiency •cact deficiency	Fatty acid metabolism disorders	SLC25A20 solute carrier family 25 member 20	Reports Updated as of Feb 01, 2025	PubMed
Renal carnitine transport defect Autosomal recessive	•Systemic primary carnitine deficiency disease •Carnitine deficiency •Carnitine transporter defect •carnitine transporter deficiency •carnitine uptake defect •Carnitine uptake deficiency •CDSP •cud •deficiency of plasma-membrane carnitine transporter •primary carnitine deficiency •renal carnitine transport defect •SPCD •carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine •carnitine plasma-membrane transporter deficiency •Systemic primary carnitine deficiency	Fatty acid metabolism disorders	SLC22A5 solute carrier family 22 member 5	Reports Updated as of Feb 01, 2025	PubMed
Hyperkalemic periodic paralysis Autosomal dominant	•Familial hyperkalemic periodic paralysis •Gamstorp disease •adynamia episodica hereditaria with or without myotonia •familial hyperkalemic periodic paralysis •familial hyperkalemic periodic paralysis •Gamstorp episodic adynamy	Metal metabolism disorders	SCN4A sodium voltage-gated channel alpha subunit 4 CLCN1 chloride voltage-gated channel 1	Reports Updated as of Feb 01, 2025	PubMed
Sjögren-Larsson syndrome Autosomal recessive	•Fatty acid alcohol oxidoreductase deficiency •Senior-Løken Syndrome •Sjogren Larsson syndrome •Sjogren-Larsson's syndrome •Fatty alcohol:NAD+ oxidoreductase deficiency •Fatty aldehyde dehydrogenase deficiency •Ichthyosis, spastic neurologic disorder, and oligophrenia •FADH deficiency •FAO deficiency •Sjogren-Larsson syndrome	Lipid metabolism disorders	ALDH3A2 aldehyde dehydrogenase 3 family member A2	Reports Updated as of Feb 01, 2025	PubMed
Congenital lipoid adrenal hyperplasia due to STAR deficency Autosomal recessive	•Congenital lipoid adrenal hyperplasia •Adrenal hyperplasia I •Cholesterol desmolase-deficient congenital adrenal hyperplasia •CLAH •Cholesterol monooxygenase (side-chain cleaving) deficiency •Lipoid CAH •Lipoid adrenal hyperplasia •Lipoid hyperplasia congenital of adrenal cortex with male pseudohermaphroditism	Lipid metabolism disorders	STAR steroidogenic acute regulatory protein	Reports Updated as of Feb 01, 2025	PubMed
Deficiency of aromatic-L-amino-acid decarboxylase Autosomal recessive	•AADC deficiency •Aromatic l-amino acid decarboxylase deficiency •aromatic L-amino acid decarboxylase deficiency •aromatic amino acid decarboxylase deficiency •DDC deficiency •DOPA decarboxylase deficiency	Amino acid metabolism disorders	DDC dopa decarboxylase	Reports Updated as of Feb 01, 2025	PubMed
Imerslund-Grasbeck syndrome type 1 Autosomal recessive	•Selective cobalamin malabsorption with proteinuria •Enterocyte cobalamin malabsorption •Gräsbeck-imerslund disease •Imerslund-Gräsbeck syndrome •Defect of enterocyte intrinsic factor receptor •Juvenile pernicious anemia with proteinuria due to selective intestinal malabsorption of vitamin B12 •Megaloblastic anemia 1 •Familial megaloblastic anaemia •Familial megaloblastic anemia •Juvenile megaloblastic Anemia •Selective cobalamin malabsorption with proteinuria	Vitamin metabolism disorders	CUBN cubilin	Reports Updated as of Feb 04, 2025	PubMed
X-linked sideroblastic anemia 1 X-linked recessive	•X-linked pyridoxine-refractory sideroblastic anemia •Anemia, sideroblastic, 1, X-linked recessive •sideroblastic anemia, X-linked •X-linked sideroblastic anaemia •X-linked sideroblastic anemia •XLSA •Anemia, sideroblastic, 1, pyridoxine refractory •Anemia, hereditary sideroblastic 1, pyridoxine refractory •Anemia, sideroblastic, 1 •Congenital sideroblastic anemia •Erythroid 5-aminolevulinate synthase deficiency •X chromosome-linked sideroblastic anemia	Porphyrin metabolism disorders	ALAS2 5'-aminolevulinate synthase 2 SLC25A38 solute carrier family 25 member 38	Reports Updated as of Feb 04, 2025	PubMed