RGDs registry under the 'Metabolic disorders/Lysosomal storage disorders'
| S.No. | Genetic Disorders | Aliases | Sub-Category | Gene symbol | Links | Indian context |
| 1 | Farber lipogranulomatosis |
•Farber disease |
Sphingolipidoses (lipid storage disorders) |
ASAH1 N-acylsphingosine amidohydrolase 1 |
PubMed | Reports |
| 2 | Glycogen storage disease, type II |
•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 |
PubMed | Reports |
| 3 | Tay-Sachs disease |
•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 |
PubMed | Reports |
| 4 | Niemann-Pick disease, type B |
•Chronic visceral acid sphingomyelinase deficiency |
Sphingolipidoses (lipid storage disorders) |
SMPD1 sphingomyelin phosphodiesterase 1 |
PubMed | Reports |
| 5 | Gaucher disease |
•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 |
PubMed | Reports |
| 6 | GM1 gangliosidosis type 2 |
•GM2 gangliosidosis |
Sphingolipidoses (lipid storage disorders) |
GLB1 galactosidase beta 1 |
PubMed | Reports |
| 7 | Fabry disease |
•Angiokeratoma corporis diffusum •Alpha-galactosidase a deficiency |
Sphingolipidoses (lipid storage disorders) |
GLA galactosidase alpha |
PubMed | Reports |
| 8 | Cholestanol storage disease |
•Cerebrotendinous xanthomatosis •Cholestanolosis •Cerebral cholesterinosis |
Sphingolipidoses (lipid storage disorders) |
CYP27A1 cytochrome P450 family 27 subfamily A member 1 |
PubMed | Reports |
| 9 | Triglyceride storage disease with ichthyosis |
•Dorfman-Chanarin disease •Neutral Lipid Storage Disease With Ichthyosis |
Sphingolipidoses (lipid storage disorders) |
ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase |
PubMed | Reports |
| 10 | Cystinosis |
•Protein defect of cystin transport •Cystine diathesis •Cystine disease •Cystine storage disease •Cystinoses |
Amino acid metabolism disorders |
CTNS cystinosin, lysosomal cystine transporter |
PubMed | Reports |
| 11 | Infantile GM1 gangliosidosis |
•GM1 gangliosidosis |
Sphingolipidoses (lipid storage disorders) |
GLB1 galactosidase beta 1 |
PubMed | Reports |
| 12 | Mucopolysaccharidosis type 2 |
•Hunter syndrome |
Mucopolysaccharidoses |
IDS iduronate 2-sulfatase |
PubMed | Reports |
| 13 | Hurler syndrome | Mucopolysaccharidoses |
IDUA alpha-L-iduronidase PITX1 paired like homeodomain 1 |
PubMed | Reports | |
| 14 | Mucolipidosis type II |
•I-Cell disease •I cell disease |
Glycolipidosis |
GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
PubMed | Reports |
| 15 | Krabbe disease |
•Globoid cell leukodystrophy |
Sphingolipidoses (lipid storage disorders) |
PSAP prosaposin |
PubMed | Reports |
| 16 | Neuronal ceroid lipofuscinosis |
•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 |
PubMed | Reports |
| 17 | Sialidosis type 2 |
•Sialidase deficiency •Infantile dysmorphic sialidosis |
Glycoproteinosis |
NEU1 neuraminidase 1 |
PubMed | Reports |
| 18 | Mucopolysaccharidosis, MPS-IV-A |
•GALNS deficiency |
Mucopolysaccharidoses |
GALNS galactosamine (N-acetyl)-6-sulfatase |
PubMed | Reports |
| 19 | Mucopolysaccharidosis type 6 | Mucopolysaccharidoses |
ARSB arylsulfatase B GUSB glucuronidase beta |
PubMed | Reports | |
| 20 | Metachromatic leukodystrophy |
•Arylsulfatase A deficiency •MLD |
Sphingolipidoses (lipid storage disorders) |
ARSA arylsulfatase A PSAP prosaposin ARSB arylsulfatase B |
PubMed | Reports |
| 21 | Sandhoff disease |
•Hexosaminidases A and B deficiency |
Sphingolipidoses (lipid storage disorders) |
HEXB hexosaminidase subunit beta |
PubMed | Reports |
| 22 | Fucosidosis | Lipid storage diseases |
FUCA1 alpha-L-fucosidase 1 DCX doublecortin |
PubMed | Reports | |
| 23 | Sea-blue histiocyte syndrome |
•Sea-blue histiocytosis •Inherited Lipemic Splenomegaly •Sea-Blue histiocyte disease |
Sphingolipidoses (lipid storage disorders) |
APOE apolipoprotein E |
PubMed | Reports |
| 24 | Neutral lipid storage myopathy |
•Neutral lipid storage disease without ichthyosis |
Sphingolipidoses (lipid storage disorders) |
PNPLA2 patatin like phospholipase domain containing 2 |
PubMed | Reports |
| 25 | Multiple sulfatase deficiency |
•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 |
PubMed | Reports |
| 26 | Ocular cystinosis |
•Non-Nephropathic cystinosis •Cystinosis, adult, nonnephropathic •Cystinosis, benign, nonnephropathic •Cystinosis, ocular nonnephropathic |
Amino acid metabolism disorders |
CTNS cystinosin, lysosomal cystine transporter |
PubMed | Reports |
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