MCID: TYS004
MIFTS: 7

Tay-Sachs Disease, B Variant, Infantile Form

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

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

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

Name: Tay-Sachs Disease, B Variant, Infantile Form 58
Gm2 Gangliosidosis, B Variant, Infantile Form 58
Hexosaminidase a Deficiency, Infantile Form 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 33 E75.0
Orphanet 58 ORPHA309178

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

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

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

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

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

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

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

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

MalaCards organs/tissues related to Tay-Sachs Disease, B Variant, Infantile Form:

40
Eye

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

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

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

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

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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