MCID: TYS005
MIFTS: 13

Tay-Sachs Disease, B1 Variant malady

Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Eye diseases categories

Aliases & Classifications for Tay-Sachs Disease, B1 Variant

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Sources:
51Orphanet, 28ICD10 via Orphanet
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Aliases & Descriptions for Tay-Sachs Disease, B1 Variant:

Name: Tay-Sachs Disease, B1 Variant 51
Hexosaminidase a Deficiency, B1 Variant 51
 
Gm2 Gangliosidosis, B1 Variant 51


Classifications:



External Ids:

Orphanet51 309239
ICD10 via Orphanet28 E75.0

Summaries for Tay-Sachs Disease, B1 Variant

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MalaCards based summary: Tay-Sachs Disease, B1 Variant, also known as hexosaminidase a deficiency, b1 variant, is related to gangliosidosis and tay-sachs disease. An important gene associated with Tay-Sachs Disease, B1 Variant is HEXA (Hexosaminidase A (Alpha Polypeptide)). Affiliated tissues include eye.

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
1gangliosidosis10.7
2tay-sachs disease10.6

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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Anatomical Context for Tay-Sachs Disease, B1 Variant

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MalaCards organs/tissues related to Tay-Sachs Disease, B1 Variant:

33
Eye

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet