MCID: TYS005
MIFTS: 14

Tay-Sachs Disease, B1 Variant malady

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

Summaries for Tay-Sachs Disease, B1 Variant

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34MalaCards
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MalaCards: 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:
63UMLS, 50Orphanet, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases


Aliases & Descriptions:

tay-sachs disease, b1 variant 50
hexosaminidase a deficiency, b1 variant 50
hexosaminidase alpha-subunit deficiency 63
gm2-gangliosidosis, b1 variant 50


External Ids:

SNOMED-CT via Orphanet60 238024005
ICD10 via Orphanet27 E75.0

Related Diseases for Tay-Sachs Disease, B1 Variant

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18GeneCards, 19GeneDecks
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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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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

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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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53PubMed
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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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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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

Sources for Tay-Sachs Disease, B1 Variant

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet