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 58
Gm2 Gangliosidosis, B Variant, Adult Form 58
Hexosaminidase a Deficiency, Adult Form 58

Classifications:

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


External Ids:

ICD10 via Orphanet 33 E75.0
UMLS via Orphanet 72 C1848914
Orphanet 58 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:

40
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
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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