MCID: TYS005
MIFTS: 12

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:
52Orphanet, 25GTR, 29ICD10 via Orphanet
See all MalaCards sources

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

Name: Tay-Sachs Disease, B1 Variant 52
Gm2 Gangliosidosis, B1 Variant 52 25
 
Hexosaminidase a Deficiency, B1 Variant 52

Classifications:



External Ids:

Orphanet52 ORPHA309239
ICD10 via Orphanet29 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 gangliosidosis and 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
1gangliosidosis10.4
2tay-sachs disease10.4

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 B125

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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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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet