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:
27GTR, 31ICD10 via Orphanet, 54Orphanet
See all MalaCards sources

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

Name: Tay-Sachs Disease, B1 Variant 54
Gm2 Gangliosidosis, B1 Variant 54 27
 
Hexosaminidase a Deficiency, B1 Variant 54

Classifications:



External Ids:

Orphanet54 ORPHA309239
ICD10 via Orphanet31 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 & Phenotypes 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 B127

Anatomical Context for Tay-Sachs Disease, B1 Variant

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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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet