MCID: TYS003
MIFTS: 8

Tay-Sachs Disease, B Variant, Juvenile Form

Categories: Neuronal diseases, Metabolic diseases, Rare diseases, Genetic diseases, Eye diseases

Aliases & Classifications for Tay-Sachs Disease, B Variant, Juvenile Form

MalaCards integrated aliases for Tay-Sachs Disease, B Variant, Juvenile Form:

Name: Tay-Sachs Disease, B Variant, Juvenile Form 59
Gm2 Gangliosidosis, B Variant, Juvenile Form 59
Hexosaminidase a Deficiency, Juvenile Form 59

Classifications:



External Ids:

Orphanet 59 ORPHA309185
ICD10 via Orphanet 34 E75.0

Summaries for Tay-Sachs Disease, B Variant, Juvenile Form

MalaCards based summary : Tay-Sachs Disease, B Variant, Juvenile Form, is also known as gm2 gangliosidosis, b variant, juvenile form. An important gene associated with Tay-Sachs Disease, B Variant, Juvenile Form is HEXA (Hexosaminidase Subunit Alpha).

Related Diseases for Tay-Sachs Disease, B Variant, Juvenile Form

Symptoms & Phenotypes for Tay-Sachs Disease, B Variant, Juvenile Form

Drugs & Therapeutics for Tay-Sachs Disease, B Variant, Juvenile Form

Search Clinical Trials , NIH Clinical Center for Tay-Sachs Disease, B Variant, Juvenile Form

Genetic Tests for Tay-Sachs Disease, B Variant, Juvenile Form

Anatomical Context for Tay-Sachs Disease, B Variant, Juvenile Form

Publications for Tay-Sachs Disease, B Variant, Juvenile Form

Variations for Tay-Sachs Disease, B Variant, Juvenile Form

Expression for Tay-Sachs Disease, B Variant, Juvenile Form

Search GEO for disease gene expression data for Tay-Sachs Disease, B Variant, Juvenile Form.

Pathways for Tay-Sachs Disease, B Variant, Juvenile Form

GO Terms for Tay-Sachs Disease, B Variant, Juvenile Form

Sources for Tay-Sachs Disease, B Variant, Juvenile Form

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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