MCID: TYS005
MIFTS: 11

Tay-Sachs Disease, B1 Variant malady

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

Aliases & Classifications for Tay-Sachs Disease, B1 Variant

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Sources:
26GTR, 30ICD10 via Orphanet, 53Orphanet
See all MalaCards sources

Aliases & Descriptions for Tay-Sachs Disease, B1 Variant:

Name: Tay-Sachs Disease, B1 Variant 53
Gm2 Gangliosidosis, B1 Variant 53 26
 
Hexosaminidase a Deficiency, B1 Variant 53

Classifications:



External Ids:

Orphanet53 ORPHA309239
ICD10 via Orphanet30 E75.0

Summaries for Tay-Sachs Disease, B1 Variant

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MalaCards based summary: Tay-Sachs Disease, B1 Variant, also known as gm2 gangliosidosis, b1 variant, is related to tay-sachs disease. An important gene associated with Tay-Sachs Disease, B1 Variant is HEXA (Hexosaminidase Subunit Alpha).

Related Diseases for Tay-Sachs Disease, B1 Variant

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Diseases in the Tay-Sachs Disease family:

Tay-Sachs Disease, B Variant, Juvenile Form Tay-Sachs Disease, B Variant, Infantile Form
tay-sachs disease, b1 variant Tay-Sachs Disease, B Variant, Adult Form

Diseases related to Tay-Sachs Disease, B1 Variant via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1tay-sachs disease10.3

Symptoms for Tay-Sachs Disease, B1 Variant

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Drugs & Therapeutics for Tay-Sachs Disease, B1 Variant

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Tay-Sachs Disease, B1 Variant

Genetic Tests for Tay-Sachs Disease, B1 Variant

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Genetic tests related to Tay-Sachs Disease, B1 Variant:

id Genetic test Affiliating Genes
1 Gm2-Gangliosidosis, Variant B126

Anatomical Context for Tay-Sachs Disease, B1 Variant

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Animal Models for Tay-Sachs Disease, B1 Variant or affiliated genes

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Publications for Tay-Sachs Disease, B1 Variant

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Articles related to Tay-Sachs Disease, B1 Variant:

idTitleAuthorsYear
1
Molecular characterization of both alleles in an unusual Tay-Sachs disease B1 variant. (8198136)
1994
2
Tay-Sachs disease: B1 variant. (2976595)
1988

Variations for Tay-Sachs Disease, B1 Variant

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Clinvar genetic disease variations for Tay-Sachs Disease, B1 Variant:

5
id Gene Variation Type Significance SNP ID Assembly Location
1HEXANM_000520.5(HEXA): c.533G> A (p.Arg178His)SNVPathogenicrs28941770GRCh37Chr 15, 72645446: 72645446

Expression for genes affiliated with Tay-Sachs Disease, B1 Variant

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Search GEO for disease gene expression data for Tay-Sachs Disease, B1 Variant.

Pathways for genes affiliated with Tay-Sachs Disease, B1 Variant

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GO Terms for genes affiliated with Tay-Sachs Disease, B1 Variant

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Sources for Tay-Sachs Disease, B1 Variant

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet