MCID: TYS005
MIFTS: 14

Tay-Sachs Disease, B1 Variant

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

Aliases & Classifications for Tay-Sachs Disease, B1 Variant

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

Name: Tay-Sachs Disease, B1 Variant 55 28
Hexosaminidase a Deficiency, B1 Variant 55
Gm2 Gangliosidosis, B1 Variant 55
Gm2-Gangliosidosis, Variant B1 28

Classifications:



External Ids:

Orphanet 55 ORPHA309239
UMLS via Orphanet 70 C2749283 C1848916
ICD10 via Orphanet 33 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:

# 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:

# Genetic test Affiliating Genes
1 Gm2-Gangliosidosis, Variant B1 28
2 Tay-Sachs Disease, B1 Variant 28

Anatomical Context for Tay-Sachs Disease, B1 Variant

Publications for Tay-Sachs Disease, B1 Variant

Articles related to Tay-Sachs Disease, B1 Variant:

# 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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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