MCID: TYS005
MIFTS: 13

Tay-Sachs Disease, B1 Variant malady

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

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 tay-sachs disease. An important gene associated with Tay-Sachs Disease, B1 Variant is HEXA (hexosaminidase A (alpha polypeptide)).

Aliases & Classifications for Tay-Sachs Disease, B1 Variant

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Sources:
48Orphanet, 27ICD10 via Orphanet
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Tay-Sachs Disease, B1 Variant, Aliases & Descriptions:

Name: Tay-Sachs Disease, B1 Variant 48
Hexosaminidase a Deficiency, B1 Variant 48
 
Gm2-Gangliosidosis, B1 Variant 48


Classifications:



External Ids:

ICD10 via Orphanet27 E75.0

Related Diseases for Tay-Sachs Disease, B1 Variant

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Diseases in the Tay-Sachs Disease family:

Tay-Sachs Disease Ab Variant tay-sachs disease, b1 variant

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

idRelated DiseaseScoreTop Affiliating Genes
1tay-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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Drug clinical trials:

Search ClinicalTrials for Tay-Sachs Disease, B1 Variant

Search 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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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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Expression patterns in normal tissues for genes affiliated with Tay-Sachs Disease, B1 Variant

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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Compounds 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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Products for genes affiliated with Tay-Sachs Disease, B1 Variant

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Tay-Sachs Disease, B1 Variant

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet