MCID: TYS006
MIFTS: 8

Tay-Sachs Disease, B Variant, Adult Form

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

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

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

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

Classifications:



External Ids:

ICD10 via Orphanet 34 E75.0
UMLS via Orphanet 73 C1848914
Orphanet 59 ORPHA309192

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

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

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

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

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

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

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

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

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

41
Eye

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

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

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

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

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

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

Sources for Tay-Sachs Disease, B Variant, Adult 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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