MCID: TYS004
MIFTS: 9

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 60
Gm2 Gangliosidosis, B Variant, Infantile Form 60
Hexosaminidase a Deficiency, Infantile Form 60

Classifications:



External Ids:

ICD10 via Orphanet 35 E75.0
Orphanet 60 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:

42
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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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