RGDs registry under the 'Metabolic disorders/Lysosomal storage disorders'
| Disorder Name (Total=31) | Aliases | Sub-Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| 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 |
| 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 |
| 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 |
| 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 |
| Farber lipogranulomatosis Autosomal recessive |
•Farber disease |
Sphingolipidoses (lipid storage disorders) |
ASAH1 N-acylsphingosine amidohydrolase 1 |
Reports Updated as of Sep 15, 2022 |
PubMed |
| Fucosidosis Autosomal recessive |
Lipid storage diseases |
FUCA1 alpha-L-fucosidase 1 DCX doublecortin |
Reports Updated as of Dec 07, 2023 |
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 |
| 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 |
| GM1 gangliosidosis type 2 Autosomal recessive |
•GM2 gangliosidosis |
Sphingolipidoses (lipid storage disorders) |
GLB1 galactosidase beta 1 |
Reports Updated as of Mar 09, 2023 |
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 |
| 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 |
| Infantile GM1 gangliosidosis Autosomal recessive |
•GM1 gangliosidosis |
Sphingolipidoses (lipid storage disorders) |
GLB1 galactosidase beta 1 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| Krabbe disease Autosomal recessive |
•Globoid cell leukodystrophy |
Sphingolipidoses (lipid storage disorders) |
PSAP prosaposin |
Reports Updated as of May 24, 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 |
| 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 |
| 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 |
| Mucopolysaccharidosis type 2 X-linked dominant |
•Hunter syndrome |
Mucopolysaccharidoses |
IDS iduronate 2-sulfatase |
Reports Updated as of May 24, 2023 |
PubMed |
| Mucopolysaccharidosis type 6 Autosomal recessive |
Mucopolysaccharidoses |
ARSB arylsulfatase B GUSB glucuronidase beta |
Reports Updated as of Sep 05, 2023 |
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, MPS-IV-A Autosomal recessive |
•GALNS deficiency |
Mucopolysaccharidoses |
GALNS galactosamine (N-acetyl)-6-sulfatase |
Reports Updated as of Sep 05, 2023 |
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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Sialidosis type 2 Autosomal recessive |
•Sialidase deficiency •Infantile dysmorphic sialidosis |
Glycoproteinosis |
NEU1 neuraminidase 1 |
Reports Updated as of Sep 05, 2023 |
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 |
| 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 |