TSD
MCID: TYS001
MIFTS: 83

Tay-Sachs Disease (TSD) malady

Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Eye diseases categories
Download this MalaCard

Summaries for Tay-Sachs Disease

About this section


Fully expand this MalaCard
MedlinePlus:33 Tay-sachs disease is a rare, inherited disorder. it causes too much of a fatty substance to build up in the brain. this buildup destroys nerve cells, causing mental and physical problems. infants with tay-sachs disease appear to develop normally for the first few months of life. then mental and physical abilities decline. the child becomes blind, deaf, and unable to swallow. muscles begin to waste away and paralysis sets in. even with the best of care, children with tay-sachs disease usually die by age 4. the cause is a gene mutation which is most common in eastern european ashkenazi jews. to get the disease, both parents must have the gene. if they do, there is a 25% chance of the child having the disease. a blood test and prenatal tests can check for the gene or the disease. there is no cure. medicines and good nutrition can help some symptoms. some children need feeding tubes. nih: national institute of neurological disorders and stroke

MalaCards based summary: Tay-Sachs Disease, also known as hexosaminidase a deficiency, is related to gangliosidosis and leukodystrophy, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, macular pigmentary anomaly/cherry-red spot and visual loss/blindness/amblyopia. An important gene associated with Tay-Sachs Disease is HEXA (hexosaminidase A (alpha polypeptide)), and among its related pathways are Amino sugar and nucleotide sugar metabolism and Keratan sulfate/keratin metabolism. The compounds g(m2) ganglioside and Ganglioside GA2 (d18:1/12:0) have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and spinal cord, and related mouse phenotypes are hearing/vestibular/ear and renal/urinary system.

Genetics Home Reference:21 Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.

NIH Rare Diseases:42 Gangliosidosis (gm2) type 1, also known as tay-sachs disease, is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord. tay-sachs is caused by the absence of a vital enzyme called hexosaminidase-a (hex-a). without hex-a, a fatty substance, or lipid, called gm2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. this ongoing accumulation causes progressive damage to the cells. last updated: 8/14/2012

NINDS:43 Tay-Sachs disease is a fatal genetic lipid storage disorder in which harmful quantities of a fatty substance called build up in tissues and nerve cells in the brain. The condition is caused by insufficient activity of an enzyme called that catalyzes the biodegradation of acidic fatty materials known as . Gangliosides are made and biodegraded rapidly in early life as the brain develops.

Wikipedia:65 Tay?Sachs disease (also known as GM2 gangliosidosis or hexosaminidase more...

Description from OMIM:46 272800

GeneReviews summary for tay-sachs

Aliases & Classifications for Tay-Sachs Disease

About this section
Sources:
30LifeMap Discovery®, 8Disease Ontology, 65Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 62UMLS, 34MeSH, 39NCIt, 57SNOMED-CT, 63UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 25ICD10
See all sources

Tay-Sachs Disease, Aliases & Descriptions:

Name: Tay-Sachs Disease 30 8 65 42 21 43 46 10 44 48 33 62
Hexosaminidase a Deficiency 8 65 19 42 20 21 48
Hexosaminidase Alpha-Subunit Deficiency 65 42 21 62
Sphingolipidosis, Tay-Sachs 65 42 21
Gm2 Gangliosidosis, Type 1 65 42 21
Disease, Tay-Sachs 8 20 22
Hexa Deficiency 65 42 21
Tsd 65 42 21
 
B Variant Gm2 Gangliosidosis 42 21
Gm2 Gangliosidosis 19 44
Lipidosis, Ganglioside, Infantile 65
Gm2-Gangliosidosis, B, B1 Variant 48
Gm2 Gangliosidosis, B Variant 62
Gangliosidosis Gm2 , Type 1 42
Gangliosidoses, Gm2 62
Hex a Deficiency 19


Classifications:



Characteristics (Orphanet epidemiological data):

48
tay-sachs disease:
Inheritance: Autosomal recessive; Age of onset: Variable


External Ids:

Disease Ontology8 DOID:3320
MeSH34 D013661
NCIt39 C85184
OMIM46 272800
SNOMED-CT57 111385000
UMLS via Orphanet63 C0039373, C1848922
MESH via Orphanet35 D013661
ICD10 via Orphanet26 E75.0
ICD1025 E75.0

Related Diseases for Tay-Sachs Disease

About this section

Diseases in the Tay-Sachs Disease family:

Tay-Sachs Disease Ab Variant Tay-Sachs Disease, B1 Variant

Diseases related to Tay-Sachs Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 72)
idRelated DiseaseScoreTop Affiliating Genes
1gangliosidosis31.4PSAP, HEXB, HEXA
2leukodystrophy31.2PSAP
3metachromatic leukodystrophy31.0ARSA, PSAP
4motor neuron disease31.0HEXA, HEXB
5sphingolipidosis30.8PSAP, ARSA
6gm1 gangliosidosis type 130.3ARSA, GLA, HEXA, PSAP
7sandhoff disease30.0SHD, HEXDC, GM2A, HEXB, HEXA, ARSA
8cystic fibrosis10.6
9tay-sachs disease ab variant10.6
10neuronitis10.6
11cerebritis10.6
12gm2-gangliosidosis, ab variant10.6
13tay-sachs disease, b1 variant10.6
14thalassemia10.5
15dystonia10.5
16gm2 gangliosidosis, 0 variant10.5
17fucosidosis10.4HEXA
18pick's disease10.4
19beta thalassemia10.4
20tay-sachs disease, b variant, juvenile form10.4
21tay-sachs disease, b variant, infantile form10.4
22tay-sachs disease, b variant, adult form10.4
23mucolipidosis10.4ARSA
24gaucher's disease10.3PSAP
25juvenile hexosaminidase a deficiency10.3
26chronic and adult-onset hexosaminidase a deficiency10.3
27alzheimer's disease10.3
28niemann-pick disease10.3
29phenylketonuria10.3
30schizophrenia10.3
31prader-willi syndrome10.3
32friedreich ataxia10.3
33coloboma10.3
34achalasia10.3
35cerebral lipidosis10.3
36choroiditis10.3
37autosomal recessive disease10.3
38encephalitis10.3
39lipodystrophy10.3
40neuropathy10.3
41peripheral neuropathy10.3
42retinitis10.3
43genetic brain disorders10.3
44sickle cell disease10.3
45precocious puberty10.3
46gm2 activator deficiency10.3
47mental retardation10.3
48ataxia10.3
49sandhoff disease, infantile, juvenile, and adult forms10.3
50mucolipidosis ii10.3PSAP, GM2A

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



Diseases related to tay-sachs disease

Symptoms for Tay-Sachs Disease

About this section

Symptoms by clinical synopsis from OMIM:

272800

Clinical features from OMIM:

272800

Symptoms:

48 (show all 22)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • macular pigmentary anomaly/cherry-red spot
  • visual loss/blindness/amblyopia
  • mild visual loss/impaired visual acuity
  • hearing loss/hypoacusia/deafness
  • eeg anomalies
  • ataxia/incoordination/trouble of the equilibrium
  • movement disorder
  • hypereflexia
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • psychic/psychomotor regression/dementia/intellectual decline
  • lipidosis/sulfatidosis
  • autosomal recessive inheritance
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • repeat respiratory infections
  • hypotonia
  • hypertonia/spasticity/rigidity/stiffness
  • myotonia

HPO human phenotypes related to Tay-Sachs Disease:

(show all 32)
id Description Frequency HPO Source Accession
1 macrocephaly hallmark (90%) HP:0000256
2 hearing impairment hallmark (90%) HP:0000365
3 visual impairment hallmark (90%) HP:0000505
4 abnormality of the macula hallmark (90%) HP:0001103
5 seizures hallmark (90%) HP:0001250
6 hyperreflexia hallmark (90%) HP:0001347
7 incoordination hallmark (90%) HP:0002311
8 eeg abnormality hallmark (90%) HP:0002353
9 developmental regression hallmark (90%) HP:0002376
10 hemiplegia/hemiparesis hallmark (90%) HP:0004374
11 abnormality of movement hallmark (90%) HP:0100022
12 cognitive impairment hallmark (90%) HP:0100543
13 optic atrophy typical (50%) HP:0000648
14 muscular hypotonia typical (50%) HP:0001252
15 hypertonia typical (50%) HP:0001276
16 splenomegaly typical (50%) HP:0001744
17 recurrent respiratory infections typical (50%) HP:0002205
18 hepatomegaly typical (50%) HP:0002240
19 myotonia typical (50%) HP:0002486
20 autosomal recessive inheritance HP:0000007
21 blindness HP:0000618
22 dementia HP:0000726
23 apathy HP:0000741
24 seizures HP:0001250
25 muscular hypotonia HP:0001252
26 exaggerated startle response HP:0002267
27 psychomotor deterioration HP:0002361
28 poor head control HP:0002421
29 aspiration HP:0002835
30 gm2-ganglioside accumulation HP:0003495
31 infantile onset HP:0003593
32 cherry red spot of the macula HP:0010729

Drugs & Therapeutics for Tay-Sachs Disease

About this section

Drug clinical trials:

Search ClinicalTrials for Tay-Sachs Disease

Search NIH Clinical Center for Tay-Sachs Disease

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Tay-Sachs Disease cell therapies at LifeMap Discovery.

Genetic Tests for Tay-Sachs Disease

About this section

Genetic tests related to Tay-Sachs Disease:

id Genetic test Affiliating Genes
1 Hexosaminidase a Deficiency20 HEXA
2 Tay-Sachs Disease20 22

Anatomical Context for Tay-Sachs Disease

About this section

MalaCards organs/tissues related to Tay-Sachs Disease:

32
Brain, Testes, Spinal cord, Eye, Bone, Liver, Retina, Kidney, Lung, Fetal brain

Animal Models for Tay-Sachs Disease or affiliated genes

About this section

MGI Mouse Phenotypes related to Tay-Sachs Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.2HEXB, ARSA, PSAP, HEXA
2MP:00053679.0HEXA, HEXB, PSAP, GLA
3MP:00053708.7GLA, PSAP, HEXB, HEXA
4MP:00053898.3BRCA2, HEXA, HEXB, VIM, PSAP
5MP:00053877.8VIM, PSAP, GLA, ARSA, HEXB, BRCA2
6MP:00053767.8BRCA2, HEXA, HEXB, VIM, PSAP, ARSA
7MP:00036317.7HEXA, ARSA, PSAP, GM2A, VIM, HEXB
8MP:00053867.3ARSA, GLA, PSAP, GM2A, VIM, BRCA2

Publications for Tay-Sachs Disease

About this section

Articles related to Tay-Sachs Disease:

(show top 50)    (show all 490)
idTitleAuthorsYear
1
Choroidal coloboma in a case of tay-sachs disease. (25295204)
2014
2
GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series). (25143775)
2014
3
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. (22723944)
2012
4
Unilaterally and rapidly progressing white matter lesion and elevated cytokines in a patient with Tay-Sachs disease. (19278800)
2010
5
Novel human pathological mutations. Gene symbol: HEXA. Disease: Tay-Sachs disease. (19644708)
2009
6
Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil. (16948947)
2006
7
A direct gene transfer strategy via brain internal capsule reverses the biochemical defect in Tay-Sachs disease. (15961412)
2005
8
Tay-Sachs disease in Brazilian patients: prevalence of the IVS7+1g>c mutation. (15065574)
2004
9
Evaluation of a Tay-Sachs disease screening program. (12752571)
2003
10
Early epidemiologic studies of Tay-Sachs disease. (11596987)
2001
11
Screening and prevention in Tay-Sachs disease: origins, update, and impact. (11596988)
2001
12
Observations on time course changes of the cherry red spot in a patient with Tay-Sachs disease. (11203170)
2000
13
The Val192Leu mutation in the alpha-subunit of beta-hexosaminidase A is not associated with the B1-variant form of Tay-Sachs disease. (8659543)
1996
14
The Tay-Sachs disease prevention program in Australia: Sydney pilot study. (7565235)
1995
15
Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease. (8747922)
1995
16
Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay-Sachs disease. (7749419)
1995
17
Detection of Tay-Sachs disease carriers among individuals with thermolabile hexosaminidase B. (8003579)
1994
18
Collaborative study of the molecular epidemiology of Tay-Sachs disease in Europe. (8044648)
1993
19
beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease. (8328462)
1993
20
An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease. (1301958)
1992
21
A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease. (1415222)
1992
22
A new point mutation within exon 5 of beta-hexosaminidase alpha gene in a Japanese infant with Tay-Sachs disease. (2141777)
1990
23
The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase. (2848800)
1988
24
A shortened beta-hexosaminidase alpha-chain in an Italian patient with infantile Tay-Sachs disease. (2954459)
1987
25
Tay-Sachs disease with hexosaminidase A: characterization of the defective enzyme in two patients. (2959149)
1987
26
Tay-Sachs disease heterozygote detection in Brazil: comparison between tears and leukocytes as beta-hexosaminidase A source. (6234430)
1984
27
Tay-Sachs disease and normal cerebellar cells in culture: elevated levels of lysosomal enzymes in Tay-Sachs disease cells. (6816949)
1982
28
Hexosaminidase C in brain affected by Tay-Sachs Disease. (7268761)
1981
29
Tay-Sachs disease brain cells in culture: mobilization of stored GM2 after concanavalin A-mediated uptake of hexosaminidase A. (7441795)
1980
30
Demonstration of cross-reacting material in Tay-Sachs disease. (89845)
1979
31
Juvenile Sandhoff Disease: complementation tests with Sandhoff and Tay-Sachs disease using polyethylene glycol-induced cell fusion. (417993)
1978
32
Tay-Sachs disease: heterozygote screening and prenatal diagnosis--U.S. experience and world perspective. (601074)
1977
33
A method for analysing fertility of heterozygotes for autosomal recessive disorders, with special reference to cystic fibrosis, Tay-Sachs disease and phenylketonuria. (848858)
1977
34
Tay-Sachs disease: an improved, fully-automated method for heterozygote identification by tear beta-hexosaminidase assay. (872421)
1977
35
Letter: Use of demographic data in screening for Tay-Sachs disease. (932893)
1976
36
Tay-Sachs disease; what is it? (1048897)
1975
37
Letter: Amniocentesis in tay-Sachs disease. (1172949)
1975
38
Tay-Sachs disease. (4714279)
1973
39
A screening program for Tay-Sachs disease in Israel. (4775113)
1973
40
Enzymic differentiation between different types of Tay-Sachs disease of similar clinical appearance. (4336274)
1972
41
Fatty acid composition of cholesterol esters in brains of patients with Schilder's disease, G M1 -gangliosidosis and Tay-Sachs disease, and its possible relationship to the -position fatty acids of lecithin. (5567894)
1971
42
Serum aldolase in Tay-Sachs disease and in fructose intolerance. (5129546)
1971
43
Tay-Sachs disease is probably not increasing. (5429291)
1970
44
Juvenile GM2-gangliosidosis. Clinical variant of Tay-Sachs disease or a new disease. (5460705)
1970
45
Studies of red cell stromal proteins in Tay-Sachs disease. (5666115)
1968
46
Membranous cytoplasmic bodies from Tay-Sachs disease. Gm-1-gangliosidosis (generalized gangliosidosis). (5656560)
1968
47
Tay Sachs disease. A case report. (5866486)
1965
48
Studies in Tay-Sachs disease. II. Ultrastructure of the cerebrum. (13980699)
1963
49
Waren Tay-Sachs disease in a Chinese infant. (20250994)
1947
50
Pathologic changes in the retina accompanying Tay-Sachs disease. (21027039)
1946

Variations for Tay-Sachs Disease

About this section

UniProtKB/Swiss-Prot genetic disease variations for Tay-Sachs Disease:

64 (show all 44)
id Symbol AA change Variation ID SNP ID
1HEXAp.Pro25SerVAR_003202
2HEXAp.Leu39ArgVAR_003203
3HEXAp.Leu127ArgVAR_003204
4HEXAp.Arg166GlyVAR_003205
5HEXAp.Arg170GlnVAR_003206
6HEXAp.Arg170TrpVAR_003207
7HEXAp.Arg178CysVAR_003208
8HEXAp.Arg178HisVAR_003209
9HEXAp.Arg178LeuVAR_003210rs28941770
10HEXAp.Tyr180HisVAR_003211rs28941771
11HEXAp.Val192LeuVAR_003212
12HEXAp.Asn196SerVAR_003213
13HEXAp.Lys197ThrVAR_003214
14HEXAp.Val200MetVAR_003215rs1800429
15HEXAp.His204ArgVAR_003216
16HEXAp.Ser210PheVAR_003217
17HEXAp.Phe211SerVAR_003218
18HEXAp.Gly250AspVAR_003221
19HEXAp.Gly250SerVAR_003222
20HEXAp.Arg252HisVAR_003223
21HEXAp.Asp258HisVAR_003224
22HEXAp.Gly269SerVAR_003225
23HEXAp.Ser279ProVAR_003226
24HEXAp.Met301ArgVAR_003227
25HEXAp.Ile335PheVAR_003230
26HEXAp.Val391MetVAR_003232
27HEXAp.Trp420CysVAR_003234
28HEXAp.Gly454SerVAR_003236
29HEXAp.Gly455ArgVAR_003237
30HEXAp.Cys458TyrVAR_003238
31HEXAp.Trp474CysVAR_003239
32HEXAp.Glu482LysVAR_003240
33HEXAp.Leu484GlnVAR_003241
34HEXAp.Trp485ArgVAR_003242
35HEXAp.Arg499CysVAR_003243
36HEXAp.Arg499HisVAR_003244
37HEXAp.Arg504CysVAR_003245rs28942071
38HEXAp.Arg504HisVAR_003246
39HEXAp.Arg252LeuVAR_017188
40HEXAp.Asn295SerVAR_017189rs199578185
41HEXAp.Leu127PheVAR_022439
42HEXAp.Ser226PheVAR_022440
43HEXAp.Gly269AspVAR_022441
44HEXAp.Asp314ValVAR_022442

Clinvar genetic disease variations for Tay-Sachs Disease:

6 (show all 39)
id Gene Name Type Significance SNP ID Assembly Location
1GM2ANM_000405.4(GM2A): c.333delC (p.Cys112Valfs)deletionPathogenicGRCh37Chr 5, 150646381: 150646381
2HEXANM_000520.4(HEXA): c.1305C> T (p.Tyr435=)single nucleotide variantPathogenicGRCh37Chr 15, 72638893: 72638893
3HEXANM_000520.4(HEXA): c.718_719insT (p.Lys240Ilefs)insertionPathogenicGRCh37Chr 15, 72642945: 72642946
4HEXANM_000520.4(HEXA): c.173G> A (p.Cys58Tyr)single nucleotide variantPathogenicrs387906949GRCh37Chr 15, 72668141: 72668141
5HEXANM_000520.4(HEXA): c.1274_1277dupTATC (p.Tyr427Ilefs)duplicationPathogenicrs387906309GRCh37Chr 15, 72638921: 72638924
6HEXANM_000520.4(HEXA): c.1421+1G> Csingle nucleotide variantPathogenicrs147324677GRCh37Chr 15, 72638575: 72638575
7HEXANM_000520.4: c.-2564_253+5128delinsGindelPathogenicGRCh38Chr 15, 72370592: 72378536
8HEXANM_000520.4(HEXA): c.1444G> A (p.Glu482Lys)single nucleotide variantPathogenicrs121907952GRCh37Chr 15, 72637869: 72637869
9HEXAHEXA, IVS2, G-C, +1single nucleotide variantPathogenic
10HEXAHEXA, 1-BP DEL, 1510CdeletionPathogenic
11HEXANM_000520.4(HEXA): c.509G> A (p.Arg170Gln)single nucleotide variantPathogenicrs121907957GRCh37Chr 15, 72645470: 72645470
12HEXANM_000520.4(HEXA): c.1260G> C (p.Trp420Cys)single nucleotide variantPathogenicrs121907958GRCh37Chr 15, 72638938: 72638938
13HEXANM_000520.4(HEXA): c.910_912delTTC (p.Phe305del)deletionPathogenicrs121907960GRCh37Chr 15, 72641494: 72641496
14HEXANM_000520.4(HEXA): c.409C> T (p.Arg137Ter)single nucleotide variantPathogenicrs121907962GRCh37Chr 15, 72647903: 72647903
15HEXANM_000520.4(HEXA): c.1177C> T (p.Arg393Ter)single nucleotide variantPathogenicrs121907963GRCh37Chr 15, 72639021: 72639021
16HEXAHEXA, IVS4, G-T, -1single nucleotide variantPathogenic
17HEXANM_000520.4(HEXA): c.629C> T (p.Ser210Phe)single nucleotide variantPathogenicrs121907961GRCh37Chr 15, 72643517: 72643517
18HEXAHEXA, 5-BP DEL, TCTCC, IVS9deletionPathogenic
19HEXAHEXA, 2-BP DEL, TG, EX5deletionPathogenic
20HEXANM_000520.4(HEXA): c.78G> A (p.Trp26Ter)single nucleotide variantPathogenicrs121907964GRCh37Chr 15, 72668236: 72668236
21HEXANM_000520.4(HEXA): c.533G> T (p.Arg178Leu)single nucleotide variantPathogenicrs28941770GRCh37Chr 15, 72645446: 72645446
22HEXAHEXA, IVS2, G-A, +1single nucleotide variantPathogenic
23HEXANM_000520.4(HEXA): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs121907965GRCh37Chr 15, 72668313: 72668313
24HEXANM_000520.4(HEXA): c.1453T> C (p.Trp485Arg)single nucleotide variantPathogenicrs121907968GRCh37Chr 15, 72637860: 72637860
25HEXAHEXA, 1-BP INSinsertionPathogenic
26HEXANM_000520.4(HEXA): c.540C> G (p.Tyr180Ter)single nucleotide variantPathogenicrs121907969GRCh37Chr 15, 72645439: 72645439
27HEXANM_000520.4(HEXA): c.1073+1G> Asingle nucleotide variantPathogenicrs76173977GRCh37Chr 15, 72640388: 72640388
28HEXANM_000520.4(HEXA): c.508C> T (p.Arg170Trp)single nucleotide variantPathogenicrs121907972GRCh37Chr 15, 72645471: 72645471
29HEXAHEXA, 2-BP DEL, CODON 310deletionPathogenic
30HEXANM_000520.4(HEXA): c.632T> C (p.Phe211Ser)single nucleotide variantPathogenicrs121907974GRCh37Chr 15, 72643514: 72643514
31HEXANM_000520.4(HEXA): c.380T> G (p.Leu127Arg)single nucleotide variantPathogenicrs121907975GRCh37Chr 15, 72647932: 72647932
32HEXANM_000520.4(HEXA): c.611A> G (p.His204Arg)single nucleotide variantPathogenicrs121907976GRCh37Chr 15, 72643535: 72643535
33HEXAHEXA, 2-BP DEL, TT, CODON 142deletionPathogenic
34HEXANM_000520.4(HEXA): c.902T> G (p.Met301Arg)single nucleotide variantPathogenicrs121907977GRCh37Chr 15, 72641504: 72641504
35HEXANM_000520.4(HEXA): c.1360G> A (p.Gly454Ser)single nucleotide variantPathogenicrs121907978GRCh37Chr 15, 72638637: 72638637
36HEXANM_000520.4(HEXA): c.116T> G (p.Leu39Arg)single nucleotide variantPathogenicrs121907979GRCh37Chr 15, 72668198: 72668198
37HEXANM_000520.4(HEXA): c.1176G> A (p.Trp392Ter)single nucleotide variantPathogenicrs267606862GRCh37Chr 15, 72639022: 72639022
38HEXAHEXA, IVS7, G-A, +1single nucleotide variantPathogenic
39HEXANM_000520.4(HEXA): c.1351C> G (p.Leu451Val)single nucleotide variantPathogenicrs28940871GRCh37Chr 15, 72638646: 72638646

Expression for genes affiliated with Tay-Sachs Disease

About this section
Expression patterns in normal tissues for genes affiliated with Tay-Sachs Disease

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

Pathways for genes affiliated with Tay-Sachs Disease

About this section

Pathways related to Tay-Sachs Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
colanic acid building blocks biosynthesis37
N-acetylglucosamine degradation I37
CMP-N-acetylneuraminate biosynthesis I (eukaryotes)37
UDP-D-xylose and UDP-D-glucuronate biosynthesis37
N-acetylglucosamine degradation II37
UDP-N-acetyl-D-glucosamine biosynthesis II37
UDP-N-acetyl-D-galactosamine biosynthesis II37
GDP-L-fucose biosynthesis I (from GDP-D-mannose)37
9.8HEXB, HEXA
2
Show member pathways
9.8HEXB, HEXA
3
Show member pathways
9.8HEXB, HEXA
4
Show member pathways
9.8HEXB, HEXA
5
Show member pathways
Ganglio Sphingolipid Metabolism37
9.8HEXB, HEXA
69.3GLA, HEXA, HEXB
79.0HEXDC, HEXB, HEXA
8
Show member pathways
8.3GLA, HEXA, HEXB, GM2A, PSAP, ARSA
98.3GLA, PSAP, GM2A, HEXB, HEXA, ARSA
10
Show member pathways
8.3HEXB, GLA, PSAP, GM2A, HEXA, ARSA

Compounds for genes affiliated with Tay-Sachs Disease

About this section
Sources:
44Novoseek, 24HMDB
See all sources

Compounds related to Tay-Sachs Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 145)
idCompoundScoreTop Affiliating Genes
1g(m2) ganglioside4410.1HEXB, HEXA
2Ganglioside GA2 (d18:1/12:0)249.9HEXB, HEXA, GM2A
3Ganglioside GA2 (d18:1/24:1(15Z))249.9GM2A, HEXB, HEXA
4Ganglioside GA2 (d18:1/24:0)249.9HEXB, GM2A, HEXA
5Ganglioside GA2 (d18:1/22:0)249.9HEXB, HEXA, GM2A
6Ganglioside GA2 (d18:1/20:0)249.9HEXA, HEXB, GM2A
7Ganglioside GA2 (d18:1/18:0)249.8HEXA, HEXB, GM2A
8Ganglioside GA2 (d18:1/9Z-18:1)249.8HEXA, HEXB, GM2A
9Ganglioside GA2 (d18:1/25:0)249.8GM2A, HEXB, HEXA
10Ganglioside GA2 (d18:1/26:0)249.8HEXB, HEXA, GM2A
11Ganglioside GA2 (d18:1/26:1(17Z))249.8GM2A, HEXB, HEXA
12Ganglioside GA2 (d18:1/16:0)249.8HEXA, HEXB, GM2A
13Ganglioside GM3 (d18:1/24:1(15Z))249.7HEXA, HEXB, GM2A
14Ganglioside GM3 (d18:1/24:0)249.7HEXA, HEXB, GM2A
15sulfatide449.7ARSA, PSAP, GM2A
16cerebroside449.7ARSA, GLA, HEXA
17Ganglioside GM3 (d18:1/22:0)249.7HEXA, HEXB, GM2A
18Ganglioside GM3 (d18:1/20:0)249.7HEXA, HEXB, GM2A
19Ganglioside GM3 (d18:1/18:0)249.7HEXA, GM2A, HEXB
20Ganglioside GM3 (d18:1/16:0)249.7GM2A, HEXA, HEXB
21Ganglioside GM3 (d18:1/9Z-18:1)249.6HEXA, HEXB, GM2A
22Ganglioside GM3 (d18:1/12:0)249.6HEXB, GM2A, HEXA
23glycosphingolipid449.6GLA, PSAP, ARSA
24Ganglioside GM3 (d18:1/26:1(17Z)))249.5HEXA, HEXB, GM2A
25Ganglioside GM3 (d18:1/26:0)249.5HEXA, HEXB, GM2A
26Ganglioside GM2 (d18:1/12:0)249.5HEXA, HEXB, GM2A
27Trihexosylceramide (d18:1/18:0)249.5GM2A, HEXB, GLA, HEXA
28Trihexosylceramide (d18:1/22:0)249.5GLA, HEXB, HEXA, GM2A
29Trihexosylceramide (d18:1/24:0)249.5GLA, GM2A, HEXB, HEXA
30Trihexosylceramide (d18:1/16:0)249.5HEXA, HEXB, GM2A, GLA
31Trihexosylceramide (d18:1/20:0)249.5HEXA, HEXB, GM2A, GLA
32Trihexosylceramide (d18:1/12:0)249.5HEXA, HEXB, GM2A, GLA
33Trihexosylceramide (d18:1/9Z-18:1)249.5HEXA, GLA, GM2A, HEXB
34Trihexosylceramide (d18:1/26:1(17Z))249.5GLA, GM2A, HEXB, HEXA
35Trihexosylceramide (d18:1/25:0)249.4HEXA, HEXB, GLA, GM2A
36Trihexosylceramide (d18:1/24:1(15Z))249.4GLA, GM2A, HEXB, HEXA
37Lactosylceramide (d18:1/16:0)249.4HEXA, HEXB, GM2A, GLA
38Lactosylceramide (d18:1/24:1(15Z))249.4GLA, GM2A, HEXB, HEXA
39Lactosylceramide (d18:1/12:0)249.4HEXA, HEXB, GM2A, GLA
40Lactosylceramide (d18:1/25:0)249.4GLA, HEXA, HEXB, GM2A
41Lactosylceramide (d18:1/26:1(17Z))249.4HEXA, HEXB, GM2A, GLA
42Lactosylceramide (d18:1/26:0)249.4HEXA, HEXB, GM2A, GLA
43Ganglioside GM3 (d18:1/25:0)249.4HEXA, GM2A, HEXB
44mannose449.2ARSA, HEXA, GLA, HEXB
45Ganglioside GM2 (d18:1/16:0)249.2HEXA, HEXB, GM2A
46glycolipid449.1PSAP, GLA, HEXB, HEXA, GM2A
47valine448.9PSAP, VIM, ARSA, GLA
48mannose 6-phosphate44 249.7ARSA, GLA, PSAP, HEXB, HEXA, GM2A
49lipid448.3GM2A, VIM, HEXA, ARSA, PSAP, GLA
50ganglioside448.1VIM, HEXA, GM2A, PSAP, GLA, ARSA

GO Terms for genes affiliated with Tay-Sachs Disease

About this section

Cellular components related to Tay-Sachs Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1acrosomal vesicleGO:0016699.7ARSA, HEXB
2lysosomal lumenGO:0432028.0ARSA, GLA, PSAP, GM2A, HEXB, HEXA

Biological processes related to Tay-Sachs Disease according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1oligosaccharide catabolic processGO:00931310.0HEXB, GM2A
2keratan sulfate catabolic processGO:04234010.0HEXA, HEXB
3hyaluronan catabolic processGO:03021410.0HEXB, HEXA
4chondroitin sulfate catabolic processGO:03020710.0HEXB, HEXA
5hyaluronan metabolic processGO:0302129.9HEXA, HEXB
6lysosome organizationGO:0070409.9HEXA, HEXB
7keratan sulfate metabolic processGO:0423399.8HEXA, HEXB
8chondroitin sulfate metabolic processGO:0302049.8HEXB, HEXA
9ganglioside catabolic processGO:0066899.8HEXA, HEXB, GM2A
10lipid storageGO:0199159.7HEXB, GM2A, HEXA
11neuromuscular process controlling balanceGO:0508859.7HEXB, HEXA, GM2A
12myelinationGO:0425529.7HEXA, HEXB
13carbohydrate metabolic processGO:0059758.7HEXB, HEXA, HEXDC
14glycosphingolipid metabolic processGO:0066878.6GM2A, HEXA, HEXB, PSAP, GLA, ARSA
15sphingolipid metabolic processGO:0066658.6GM2A, HEXB, HEXA, PSAP, GLA, ARSA
16small molecule metabolic processGO:0442818.5HEXB, GLA, HEXA, ARSA, GM2A, PSAP

Molecular functions related to Tay-Sachs Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1beta-N-acetylhexosaminidase activityGO:0045638.7GM2A, HEXB, HEXDC, HEXA

Products for genes affiliated with Tay-Sachs Disease

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Tay-Sachs Disease

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet