MCID: TYS005
MIFTS: 16

Tay-Sachs Disease, B1 Variant

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

Aliases & Classifications for Tay-Sachs Disease, B1 Variant

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

Name: Tay-Sachs Disease, B1 Variant 60 6
Gm2-Gangliosidosis, Variant B1 30 6
Hexosaminidase a Deficiency, B1 Variant 60
Gm2 Gangliosidosis, B1 Variant 60

Classifications:



External Ids:

ICD10 via Orphanet 35 E75.0
UMLS via Orphanet 75 C1848916 C2749283
Orphanet 60 ORPHA309239

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 gm2 gangliosidosis and gangliosidosis. An important gene associated with Tay-Sachs Disease, B1 Variant is HEXA (Hexosaminidase Subunit Alpha). Affiliated tissues include eye.

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 gm2 gangliosidosis 10.5
2 gangliosidosis 10.5
3 tay-sachs disease 10.5

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 30

Anatomical Context for Tay-Sachs Disease, B1 Variant

MalaCards organs/tissues related to Tay-Sachs Disease, B1 Variant:

42
Eye

Publications for Tay-Sachs Disease, B1 Variant

Articles related to Tay-Sachs Disease, B1 Variant:

# Title Authors Year
1
Neuroradiological findings in GM2 gangliosidosis variant B1. ( 22408656 )
2011
2
GM2 gangliosidosis variant B1 neuroradiological findings. ( 12527987 )
2003
3
Molecular characterization of both alleles in an unusual Tay-Sachs disease B1 variant. ( 8198136 )
1994
4
Juvenile GM2 gangliosidosis variant B1: clinical and biochemical study in seven patients. ( 2138256 )
1990
5
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 (show all 14)
# 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.574G> C (p.Val192Leu) single nucleotide variant no interpretation for the single variant rs387906310 GRCh37 Chromosome 15, 72643572: 72643572
10 HEXA NM_000520.5(HEXA): c.574G> C (p.Val192Leu) single nucleotide variant no interpretation for the single variant rs387906310 GRCh38 Chromosome 15, 72351231: 72351231
11 HEXA NM_000520.5(HEXA): c.772G> C (p.Asp258His) single nucleotide variant Pathogenic rs121907971 GRCh37 Chromosome 15, 72642892: 72642892
12 HEXA NM_000520.5(HEXA): c.772G> C (p.Asp258His) single nucleotide variant Pathogenic rs121907971 GRCh38 Chromosome 15, 72350551: 72350551
13 HEXA NM_000520.5(HEXA): c.598G> A (p.Val200Met) single nucleotide variant Uncertain significance rs1800429 GRCh37 Chromosome 15, 72643548: 72643548
14 HEXA NM_000520.5(HEXA): c.598G> A (p.Val200Met) single nucleotide variant Uncertain significance rs1800429 GRCh38 Chromosome 15, 72351207: 72351207

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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