MCID: TYS005
MIFTS: 12

Tay-Sachs Disease, B1 Variant

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

Aliases & Classifications for Tay-Sachs Disease, B1 Variant

MalaCards integrated aliases for Tay-Sachs Disease, B1 Variant:

Name: Tay-Sachs Disease, B1 Variant 56
Hexosaminidase a Deficiency, B1 Variant 56
Gm2 Gangliosidosis, B1 Variant 56
Gm2-Gangliosidosis, Variant B1 29

Classifications:



External Ids:

Orphanet 56 ORPHA309239
UMLS via Orphanet 70 C2749283 C1848916
ICD10 via Orphanet 34 E75.0

Summaries for Tay-Sachs Disease, B1 Variant

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 Subunit Alpha).

Related Diseases for Tay-Sachs Disease, B1 Variant

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:

id Related Disease Score Top Affiliating Genes
1 tay-sachs disease 10.3

Symptoms & Phenotypes for Tay-Sachs Disease, B1 Variant

Drugs & Therapeutics for Tay-Sachs Disease, B1 Variant

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

Genetic Tests for Tay-Sachs Disease, B1 Variant

Genetic tests related to Tay-Sachs Disease, B1 Variant:

id Genetic test Affiliating Genes
1 Gm2-Gangliosidosis, Variant B1 29

Anatomical Context for Tay-Sachs Disease, B1 Variant

Publications for Tay-Sachs Disease, B1 Variant

Articles related to Tay-Sachs Disease, B1 Variant:

id Title Authors Year
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

ClinVar genetic disease variations for Tay-Sachs Disease, B1 Variant:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HEXA NM_000520.5(HEXA): c.533G> A (p.Arg178His) single nucleotide variant Pathogenic rs28941770 GRCh37 Chromosome 15, 72645446: 72645446
2 HEXA NM_000520.5(HEXA): c.532C> T (p.Arg178Cys) single nucleotide variant Pathogenic rs121907953 GRCh37 Chromosome 15, 72645447: 72645447
3 HEXA NM_000520.5(HEXA): c.987G> A (p.Trp329Ter) single nucleotide variant Pathogenic rs121907967 GRCh37 Chromosome 15, 72640475: 72640475
4 HEXA NM_000520.5(HEXA): c.962_964delGAG (p.Gly321del) deletion Pathogenic rs797044434 GRCh38 Chromosome 15, 72349101: 72349103
5 HEXA NM_000520.5(HEXA): c.772G> C (p.Asp258His) single nucleotide variant Pathogenic rs121907971 GRCh37 Chromosome 15, 72642892: 72642892

Expression for Tay-Sachs Disease, B1 Variant

Search GEO for disease gene expression data for Tay-Sachs Disease, B1 Variant.

Pathways for Tay-Sachs Disease, B1 Variant

GO Terms for Tay-Sachs Disease, B1 Variant

Sources for Tay-Sachs Disease, B1 Variant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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