MCID: TYS005
MIFTS: 14

Tay-Sachs Disease, B1 Variant malady

Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases categories
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Summaries for Tay-Sachs Disease, B1 Variant

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33MalaCards
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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:
62UMLS, 49Orphanet, 59SNOMED-CT via Orphanet, 26ICD10 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 49
hexosaminidase a deficiency, b1 variant 49
hexosaminidase alpha-subunit deficiency 62
gm2-gangliosidosis, b1 variant 49


External Ids:

SNOMED-CT via Orphanet59 238024005
ICD10 via Orphanet26 E75.0

Related Diseases for Tay-Sachs Disease, B1 Variant

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17GeneCards, 18GeneDecks
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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:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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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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52PubMed
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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, 15Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet