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 59
Gm2 Gangliosidosis, B Variant, Infantile Form 59
Hexosaminidase a Deficiency, Infantile Form 59

Classifications:



External Ids:

ICD10 via Orphanet 34 E75.0
Orphanet 59 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:

41
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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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