MCID: TYS005
MIFTS: 17

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 58 6
Hexosaminidase a Deficiency, B1 Variant 58
Gm2 Gangliosidosis, B1 Variant 58
Gm2-Gangliosidosis, Variant B1 6

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 33 E75.0
UMLS via Orphanet 71 C1848916 C2749283
Orphanet 58 ORPHA309239

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 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 10.8
2 gangliosidosis 10.8
3 tay-sachs disease 10.4
4 lysosomal disease 10.4
5 pathologic nystagmus 10.3
6 hyperacusis 10.3
7 quadriplegia 10.2
8 dystonia 10.2
9 gm2 gangliosidosis, 0 variant 10.2

Graphical network of the top 20 diseases related to Tay-Sachs Disease, B1 Variant:



Diseases related to Tay-Sachs Disease, B1 Variant

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

Anatomical Context for Tay-Sachs Disease, B1 Variant

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

40
Eye

Publications for Tay-Sachs Disease, B1 Variant

Articles related to Tay-Sachs Disease, B1 Variant:

(show all 12)
# Title Authors PMID Year
1
Molecular characterization of both alleles in an unusual Tay-Sachs disease B1 variant. 61 6
8198136 1994
2
Tay-Sachs disease: B1 variant. 61 6
2976595 1988
3
A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts. 6
9272736 1997
4
The Val192Leu mutation in the alpha-subunit of beta-hexosaminidase A is not associated with the B1-variant form of Tay-Sachs disease. 6
8659543 1996
5
A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease. 6
1415222 1992
6
Heterozygosity for the "DN allele" (G533-greater than A) of the beta-hexosaminidase alpha subunit gene identified by direct DNA sequencing in a family with the B1 variant of GM2-gangliosidosis. 6
1318511 1992
7
Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals. 6
1532289 1992
8
GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene mutations in 11 patients from a defined region in Portugal. 6
1832817 1991
9
GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients. 6
2137287 1990
10
B1 variant of GM2 gangliosidosis in a 12-year-old patient. 6
2521932 1989
11
GM2-gangliosidosis B1 variant: a wide geographic and ethnic distribution of the specific beta-hexosaminidase alpha chain mutation originally identified in a Puerto Rican patient. 6
2973311 1988
12
Mutation in GM2-gangliosidosis B1 variant. 6
2961848 1988

Variations for Tay-Sachs Disease, B1 Variant

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HEXA NM_000520.6(HEXA):c.987G>A (p.Trp329Ter) SNV Pathogenic 3916 rs121907967 GRCh37: 15:72640475-72640475
GRCh38: 15:72348134-72348134
2 HEXA NM_000520.6(HEXA):c.533G>A (p.Arg178His) SNV Pathogenic 3896 rs28941770 GRCh37: 15:72645446-72645446
GRCh38: 15:72353105-72353105
3 HEXA NM_000520.6(HEXA):c.532C>T (p.Arg178Cys) SNV Pathogenic 3897 rs121907953 GRCh37: 15:72645447-72645447
GRCh38: 15:72353106-72353106
4 HEXA NM_000520.6(HEXA):c.959_961GAG[1] (p.Gly321del) Microsatellite Pathogenic 3921 rs797044434 GRCh37: 15:72641442-72641444
GRCh38: 15:72349101-72349103
5 HEXA NM_000520.6(HEXA):c.772G>C (p.Asp258His) SNV Pathogenic 3924 rs121907971 GRCh37: 15:72642892-72642892
GRCh38: 15:72350551-72350551
6 HEXA NM_000520.6(HEXA):c.574G>C (p.Val192Leu) SNV Pathogenic 446267 rs387906310 GRCh37: 15:72643572-72643572
GRCh38: 15:72351231-72351231

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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