GenTIGS

RGDs registry under the 'Metabolic disorders/Lysosomal storage disorders'

Disorder Name (Total=39)	Aliases	Sub-Category	Gene	Indian Reports	Link
Glycogen storage disease, type II Autosomal recessive	•Pompe disease •Glycogen storage disease due to acid maltase deficiency	Carbohydrate metabolism disorders	GAA alpha glucosidase PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	Reports Updated as of Sep 15, 2022	PubMed
Farber lipogranulomatosis Autosomal recessive	•Farber disease	Sphingolipidoses (lipid storage disorders)	ASAH1 N-acylsphingosine amidohydrolase 1	Reports Updated as of Sep 15, 2022	PubMed
Niemann-Pick disease, type B Autosomal recessive	•Chronic visceral acid sphingomyelinase deficiency	Sphingolipidoses (lipid storage disorders)	SMPD1 sphingomyelin phosphodiesterase 1	Reports Updated as of Sep 15, 2022	PubMed
Tay-Sachs disease Autosomal recessive	•Hexosaminidase A deficiency •GM2 gangliosidosis, B, B1 variant •GM2 gangliosidosis, type 1 •HexA deficiency •Hexosaminidase alpha-subunit deficiency (variant B) •Sphingolipidosis, Tay-Sachs	Sphingolipidoses (lipid storage disorders)	GM2A ganglioside GM2 activator HEXA hexosaminidase subunit alpha	Reports Updated as of Sep 15, 2022	PubMed
Gaucher disease Autosomal recessive	•Glucocerebrosidosis •Acute cerebral Gaucher disease •Glucocerebrosidase deficiency •Cerebroside lipidosis syndrome •Glucosyl cerebroside lipidosis •Glucosylceramidase deficiency •Kerasin lipoidosis •Kerasin thesaurismosis •Sphingolipidosis 1 •Gaucher splenomegaly •Acid beta-glucosidase deficiency	Sphingolipidoses (lipid storage disorders)	GBA1 glucosylceramidase beta 1 PSAP prosaposin MSH6 mutS homolog 6	Reports Updated as of Mar 09, 2023	PubMed
GM1 gangliosidosis type 2 Autosomal recessive	•GM2 gangliosidosis	Sphingolipidoses (lipid storage disorders)	GLB1 galactosidase beta 1	Reports Updated as of Mar 09, 2023	PubMed
Fabry disease X-linked recessive, X-linked dominant	•Angiokeratoma corporis diffusum •Alpha-galactosidase a deficiency	Sphingolipidoses (lipid storage disorders)	GLA galactosidase alpha	Reports Updated as of Mar 09, 2023	PubMed
Cholestanol storage disease Autosomal recessive	•Cerebrotendinous xanthomatosis •Cholestanolosis •Cerebral cholesterinosis	Sphingolipidoses (lipid storage disorders)	CYP27A1 cytochrome P450 family 27 subfamily A member 1	Reports Updated as of Mar 09, 2023	PubMed
Triglyceride storage disease with ichthyosis Autosomal recessive	•Dorfman-Chanarin disease •Neutral Lipid Storage Disease With Ichthyosis	Sphingolipidoses (lipid storage disorders)	ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	Reports Updated as of Mar 09, 2023	PubMed
Cystinosis Autosomal recessive	•Protein defect of cystin transport •Cystine diathesis •Cystine disease •Cystine storage disease •Cystinoses	Amino acid metabolism disorders	CTNS cystinosin, lysosomal cystine transporter	Reports Updated as of Mar 09, 2023	PubMed
Infantile GM1 gangliosidosis Autosomal recessive	•GM1 gangliosidosis	Sphingolipidoses (lipid storage disorders)	GLB1 galactosidase beta 1	Reports Updated as of Mar 09, 2023	PubMed
Mucopolysaccharidosis type 2 X-linked dominant	•Hunter syndrome	Mucopolysaccharidoses	IDS iduronate 2-sulfatase	Reports Updated as of May 24, 2023	PubMed
Krabbe disease Autosomal recessive	•Globoid cell leukodystrophy	Sphingolipidoses (lipid storage disorders)	PSAP prosaposin	Reports Updated as of May 24, 2023	PubMed
Mucolipidosis type II Autosomal recessive	•I-Cell disease •I cell disease	Glycolipidosis	GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	Reports Updated as of May 24, 2023	PubMed
Hurler syndrome Autosomal recessive	•Mucopolysaccharidosis type ih •Gargoylism, hurler syndrome	Mucopolysaccharidoses	IDUA alpha-L-iduronidase PITX1 paired like homeodomain 1	Reports Updated as of May 24, 2023	PubMed
Neuronal ceroid lipofuscinosis Autosomal dominant, Autosomal recessive	•Batten disease	Lipid storage diseases	MFSD8 major facilitator superfamily domain containing 8 CLN5 CLN5 intracellular trafficking protein TPP1 tripeptidyl peptidase 1 CLN8 CLN8 transmembrane ER and ERGIC protein CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin PPT1 palmitoyl-protein thioesterase 1 CTSD cathepsin D CTSF cathepsin F CLN6 CLN6 transmembrane ER protein GRN granulin precursor DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 KCTD7 potassium channel tetramerization domain containing 7	Reports Updated as of Sep 05, 2023	PubMed
Sialidosis type 2 Autosomal recessive	•Sialidase deficiency •Infantile dysmorphic sialidosis	Glycoproteinosis	NEU1 neuraminidase 1	Reports Updated as of Sep 05, 2023	PubMed
Mucopolysaccharidosis, MPS-IV-A Autosomal recessive	•GALNS deficiency	Mucopolysaccharidoses	GALNS galactosamine (N-acetyl)-6-sulfatase	Reports Updated as of Sep 05, 2023	PubMed
Mucopolysaccharidosis type 6 Autosomal recessive		Mucopolysaccharidoses	ARSB arylsulfatase B GUSB glucuronidase beta	Reports Updated as of Sep 05, 2023	PubMed
Metachromatic leukodystrophy Autosomal recessive	•Arylsulfatase A deficiency •MLD	Sphingolipidoses (lipid storage disorders)	ARSA arylsulfatase A PSAP prosaposin ARSB arylsulfatase B	Reports Updated as of Nov 30, 2023	PubMed
Sandhoff disease Autosomal recessive	•Hexosaminidases A and B deficiency	Sphingolipidoses (lipid storage disorders)	HEXB hexosaminidase subunit beta	Reports Updated as of Nov 30, 2023	PubMed
Fucosidosis Autosomal recessive		Lipid storage diseases	FUCA1 alpha-L-fucosidase 1 DCX doublecortin	Reports Updated as of Dec 07, 2023	PubMed
Sea-blue histiocyte syndrome Autosomal dominant	•Sea-blue histiocytosis •Inherited Lipemic Splenomegaly •Sea-Blue histiocyte disease	Sphingolipidoses (lipid storage disorders)	APOE apolipoprotein E	Reports Updated as of Jan 04, 2024	PubMed
Neutral lipid storage myopathy Autosomal recessive	•Neutral lipid storage disease without ichthyosis	Sphingolipidoses (lipid storage disorders)	PNPLA2 patatin like phospholipase domain containing 2	Reports Updated as of Jan 04, 2024	PubMed
Multiple sulfatase deficiency Autosomal recessive	•Juvenile sulfatidosis, Austin type •Mucosulfatidosis •Multiple sulfatase deficiency disease •Juvenile sulfatidosis	Sphingolipidoses (lipid storage disorders)	SUMF1 sulfatase modifying factor 1 SUMF2 sulfatase modifying factor 2	Reports Updated as of Feb 01, 2024	PubMed
Ocular cystinosis Autosomal recessive	•Non-Nephropathic cystinosis •Cystinosis, adult, nonnephropathic •Cystinosis, benign, nonnephropathic •Cystinosis, ocular nonnephropathic	Amino acid metabolism disorders	CTNS cystinosin, lysosomal cystine transporter	Reports Updated as of Jul 20, 2024	PubMed
Deficiency of hyaluronoglucosaminidase Autosomal recessive	•Mucopolysaccharidosis type 9 •Hyaluronidase deficiency •MPS9 • MPSIX •mucopolysaccharidosis type IX •MPS IX	Mucopolysaccharidoses	HYAL1 hyaluronidase 1	Reports Updated as of Feb 01, 2025	PubMed
Mucopolysaccharidosis type 7 Autosomal recessive	•GUSB deficiency •beta-glucuronidase deficiency • deficiency of beta-glucuronidase •MPS VII - Sly syndrome • MPS7 •MPSVII •mucopolysaccharidosis type vii •mucopolysaccharidosis VII •mucopolysaccharidosis, mps-VII •Sly disease •Sly syndrome	Mucopolysaccharidoses	GUSB glucuronidase beta	Reports Updated as of Feb 01, 2025	PubMed
Mucopolysaccharidosis, MPS-III-A Autosomal recessive	•Heparan sulfate sulfatase deficiency •Sulfamidase deficiency •Sanfilippo syndrome A •Mucopolysaccharidosis type IIIA (Sanfilippo A) •mucopolysaccharidosis type iii •mucopolysaccharidosis, MPS-III •N-sulphoglucosamine sulphohydrolase deficiency •Sanfilippo disease •Sanfilippo syndrome A	Mucopolysaccharidoses	SGSH N-sulfoglucosamine sulfohydrolase GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	Reports Updated as of Feb 01, 2025	PubMed
Mucopolysaccharidosis type 1 Autosomal recessive	•Alpha-L-iduronidase deficiency •iduronidase deficiency disease •lipochondrodystrophy • MPS I - Hurler syndrome •MPS1 • MPSI • mucopolysaccharidosis type i •mucopolysaccharidosis, MPS-I •mucopolysaccharidosis, type 1 •Attenuated MPS I (subtype) •Hurler-Scheie syndrome (former subtype) •IDUA deficiency •Mucopolysaccharidosis Type I •Scheie syndrome (former subtype •formerly known as Mucopoly-saccharidosis type V) •Severe MPS I (subtype)	Mucopolysaccharidoses	IDUA alpha-L-iduronidase	Reports Updated as of Feb 26, 2025	PubMed
Homocystinuria due to methylene tetrahydrofolate reductase deficiency Autosomal recessive	•methylene tetrahydrofolate reductase deficiency •MTHFR deficiency •Methylenetetrahydro-folate reductase deficiency •5,10-alpha-methylenetetrahydro-folate reductase deficiency •Homocysteinuria due to mthfr deficiency •Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity •Homocysteinemia due to mthfr deficiency •Homocysteinemia due to methylenetetrahydro-folate reductase deficiency •Homocysteinuria due to methylenetetrahydro-folate reductase deficiency •Homocystinuria due to mthfr deficiency	Vitamin metabolism disorders	MTHFR methylenetetrahydrofolate reductase	Reports Updated as of Feb 26, 2025	PubMed
Mucopolysaccharidosis, MPS-I-S Autosomal recessive	•Mucopolysaccharidosis type V •Scheie syndrome •Mucopolysaccharidosis type 1S •MPS I S •MPS1S •MPSIS •MPS V	Mucopolysaccharidoses	IDUA alpha-L-iduronidase	Reports Updated as of Sep 08, 2025	PubMed
Acid sphingomyelinase deficiency Autosomal recessive	•ASM Deficient Niemann Pick Disease •Acid Sphingomyelinase Deficient Niemann Pick Disease •Acid Sphingomyelinase-Deficient Niemann-Pick Disease •ASM-Deficient Niemann-Pick Disease •Deficiency, Acid Sphingomyelinase •Disease, ASM-Deficient Niemann-Pick •Niemann-Pick Disease, ASM-Deficient •Sphingomyelinase Deficiency, Acid •Sphingomyelinase deficiency disease	Sphingolipidoses (lipid storage disorders)	SMPD1 sphingomyelin phosphodiesterase 1	Reports Updated as of Jan 05, 2026	PubMed
GNPTG-mucolipidosis Autosomal recessive	•Mucolipidosis type 3 gamma •Mucolipidosis iii, complementation group c •Mucolipidosis type III gamma •ML 3 gamma •ML iii gamma •ML iiic •Mucolipidosis iii, Iranian variant form •Mucolipidosis iii, variant form	Glycoproteinosis	GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma	Reports Updated as of Jan 05, 2026	PubMed
Niemann-Pick disease, type C2 Autosomal recessive	•NPC2	Sphingolipidoses (lipid storage disorders)	NPC2 NPC intracellular cholesterol transporter 2 NPC1 NPC intracellular cholesterol transporter 1	Reports Updated as of Jan 05, 2026	PubMed
Glycogen storage disease IXb Autosomal recessive	•Phosphorylase kinase deficiency of liver and muscle, autosomal recessive •GSD due to liver and muscle phosphorylase kinase deficiency •Glycogen storage disease 9b •glycogen storage disease caused by mutation in phkb •glycogen storage disease due to liver and muscle glycogen phosphorylase kinase deficiency •glycogen storage disease type 9b • glycogen storage disease type ixb •glycogenosis due to liver and muscle phosphorylase kinase deficiency •glycogenosis type 9b •glycogenosis type ixb •PHKB glycogen storage disease •PHKB-related glycogen storage disease type ix •PHKB-related phosphorylase kinase deficiency •Glycogenosis of liver and muscle, autosomal recessive •GSD type 9b •GSD type ixb •GSD IXb •GSD9B	Carbohydrate metabolism disorders	PHKB phosphorylase kinase regulatory subunit beta	Reports Updated as of Feb 10, 2026	PubMed
Niemann-Pick disease, type C1 Autosomal recessive	•Niemann-Pick disease, variant type C1 •Neurovisceral storage disease with vertical supranuclear ophthalmoplegia •Niemann-Pick Disease with cholesterol esterification block •Niemann-Pick Disease without sphingomyelinase deficiency •Niemann-Pick Disease, chronic neuronopathic form	Sphingolipidoses (lipid storage disorders)	NPC1 NPC intracellular cholesterol transporter 1 NPC2 NPC intracellular cholesterol transporter 2	Reports Updated as of Mar 30, 2026	PubMed
Mucolipidosis type IV Autosomal recessive	•ML IV •ML 4 •Mucolipidosis IV (ML4) •Mucolipidosis type 4 •ML4	Glycolipidosis	MCOLN1 mucolipin TRP cation channel 1	Reports Updated as of Mar 30, 2026	PubMed
Neutral 1 amino acid transport defect Autosomal recessive	•Hartnup disease •Aminoaciduria, Hartnup type •Deficiency of tryptophan oxygenase •Hartnup disorder •Neutral amino acid transport defect •HND	Amino acid metabolism disorders	SLC6A19 solute carrier family 6 member 19	Reports Updated as of Mar 30, 2026	PubMed