MCID: TYS005
MIFTS: 14

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 59 29 6
Gm2-Gangliosidosis, Variant B1 29 6
Hexosaminidase a Deficiency, B1 Variant 59
Gm2 Gangliosidosis, B1 Variant 59
Gm2-Gangliosidosis, B1 Variant 6

Classifications:



External Ids:

Orphanet 59 ORPHA309239
ICD10 via Orphanet 34 E75.0
UMLS via Orphanet 74 C2749283 C1848916

Summaries for Tay-Sachs Disease, B1 Variant

MalaCards based summary : Tay-Sachs Disease, B1 Variant, also known as gm2-gangliosidosis, variant b1, 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 29
2 Tay-Sachs Disease, B1 Variant 29

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.533G> A (p.Arg178His) single nucleotide variant Pathogenic rs28941770 GRCh38 Chromosome 15, 72353105: 72353105
3 HEXA NM_000520.5(HEXA): c.532C> T (p.Arg178Cys) single nucleotide variant Pathogenic rs121907953 GRCh37 Chromosome 15, 72645447: 72645447
4 HEXA NM_000520.5(HEXA): c.532C> T (p.Arg178Cys) single nucleotide variant Pathogenic rs121907953 GRCh38 Chromosome 15, 72353106: 72353106
5 HEXA NM_000520.5(HEXA): c.987G> A (p.Trp329Ter) single nucleotide variant Pathogenic rs121907967 GRCh37 Chromosome 15, 72640475: 72640475
6 HEXA NM_000520.5(HEXA): c.987G> A (p.Trp329Ter) single nucleotide variant Pathogenic rs121907967 GRCh38 Chromosome 15, 72348134: 72348134
7 HEXA NM_000520.5(HEXA): c.962_964delGAG (p.Gly321del) deletion Pathogenic rs797044434 GRCh38 Chromosome 15, 72349101: 72349103
8 HEXA NM_000520.5(HEXA): c.962_964delGAG (p.Gly321del) deletion Pathogenic rs797044434 GRCh37 Chromosome 15, 72641442: 72641444
9 HEXA NM_000520.5(HEXA): c.772G> C (p.Asp258His) single nucleotide variant Pathogenic rs121907971 GRCh37 Chromosome 15, 72642892: 72642892
10 HEXA NM_000520.5(HEXA): c.772G> C (p.Asp258His) single nucleotide variant Pathogenic rs121907971 GRCh38 Chromosome 15, 72350551: 72350551

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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