MCID: TYS003

Tay-Sachs Disease, B Variant, Juvenile Form malady

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Tay-Sachs Disease, B Variant, Juvenile Form

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Sources:
52Orphanet, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Tay-Sachs Disease, B Variant, Juvenile Form:

Name: Tay-Sachs Disease, B Variant, Juvenile Form 52
Gm2 Gangliosidosis, B Variant, Juvenile Form 52
 
Hexosaminidase a Deficiency, Juvenile Form 52

Classifications:



External Ids:

Orphanet52 ORPHA309185
ICD10 via Orphanet29 E75.0

Summaries for Tay-Sachs Disease, B Variant, Juvenile Form

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MalaCards based summary: Tay-Sachs Disease, B Variant, Juvenile Form, is also known as gm2 gangliosidosis, b variant, juvenile form An important gene associated with Tay-Sachs Disease, B Variant, Juvenile Form is HEXA (Hexosaminidase Subunit Alpha).

Related Diseases for Tay-Sachs Disease, B Variant, Juvenile Form

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Symptoms for Tay-Sachs Disease, B Variant, Juvenile Form

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Drugs & Therapeutics for Tay-Sachs Disease, B Variant, Juvenile Form

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Tay-Sachs Disease, B Variant, Juvenile Form

Genetic Tests for Tay-Sachs Disease, B Variant, Juvenile Form

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Anatomical Context for Tay-Sachs Disease, B Variant, Juvenile Form

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Animal Models for Tay-Sachs Disease, B Variant, Juvenile Form or affiliated genes

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Publications for Tay-Sachs Disease, B Variant, Juvenile Form

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Variations for Tay-Sachs Disease, B Variant, Juvenile Form

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Expression for genes affiliated with Tay-Sachs Disease, B Variant, Juvenile Form

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Search GEO for disease gene expression data for Tay-Sachs Disease, B Variant, Juvenile Form.

Pathways for genes affiliated with Tay-Sachs Disease, B Variant, Juvenile Form

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GO Terms for genes affiliated with Tay-Sachs Disease, B Variant, Juvenile Form

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Sources for Tay-Sachs Disease, B Variant, Juvenile Form

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet