TSD
MCID: TYS001
MIFTS: 82

Tay-Sachs Disease (TSD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases categories

Summaries for Tay-Sachs Disease

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Sources:
22Genetics Home Reference, 44NIH Rare Diseases, 35MedlinePlus, 45NINDS, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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MedlinePlus:35 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: Tay-Sachs Disease, also known as hexosaminidase a deficiency, is related to gangliosidosis and motor neuron disease, and has symptoms including myotonia, hypertonia/spasticity/rigidity/stiffness and hypotonia. 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:22 Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.

NIH Rare Diseases:44 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:45 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:66 Tay?Sachs disease (also known as GM2 gangliosidosis or hexosaminidase more...

Description from OMIM:48 272800

GeneReviews summary for tay-sachs

Aliases & Classifications for Tay-Sachs Disease

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Sources:
9Disease Ontology, 66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 45NINDS, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 35MedlinePlus, 32LifeMap Discoveryā„¢, 63UMLS, 36MeSH, 41NCIt, 59SNOMED-CT, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 26ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases


Characteristics (Orphanet epidemiological data):

50
tay-sachs disease:
Inheritance: Autosomal recessive; Age of onset: Variable


Aliases & Descriptions:

tay-sachs disease 9 66 22 45 48 11 46 50 35 32 63
hexosaminidase a deficiency 9 66 20 44 21 22 50
hexosaminidase alpha-subunit deficiency 66 44 22 63
sphingolipidosis, tay-sachs 66 44 22
gm2 gangliosidosis, type 1 66 44 22
gm2 gangliosidosis 20 46 50
tay sachs disease 44 21 23
hexa deficiency 66 44 22
tsd 66 44 22
b variant gm2 gangliosidosis 44 22
lipidosis, ganglioside, infantile 66
gm2-gangliosidosis, b, b1 variant 50
gangliosidosis gm2 , type 1 44
gangliosidoses, gm2 63
disease, tay-sachs 9
hex a deficiency 20


External Ids:

Disease Ontology9 DOID:3320
MeSH36 D013661
NCIt41 C85184
OMIM48 272800
MESH via Orphanet37 D013661
SNOMED-CT59 111385000
ICD10 via Orphanet27 E75.0
SNOMED-CT via Orphanet60 111385000, 33316007
UMLS via Orphanet64 C0039373, C1848922, C0268274
ICD1026 E75.0

Related Diseases for Tay-Sachs Disease

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18GeneCards, 19GeneDecks
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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 70)
idRelated DiseaseScoreTop Affiliating Genes
1gangliosidosis31.2PSAP, HEXB, HEXA
2motor neuron disease30.9HEXA, HEXB
3leukodystrophy30.8PSAP
4metachromatic leukodystrophy30.8ARSA, PSAP
5sandhoff disease30.7SHD, HEXDC, GM2A, HEXB, HEXA, ARSA
6sphingolipidosis30.5PSAP, ARSA
7fabry disease30.4PSAP, GLA, ARSA
8cystic fibrosis10.6
9neuronitis10.6
10cerebritis10.6
11tay-sachs disease ab variant10.6
12tay-sachs disease, b1 variant10.6
13thalassemia10.5
14gm2-gangliosidosis, ab variant10.5
15dystonia10.5
16gm2 gangliosidosis, 0 variant10.5
17pick's disease10.4
18beta thalassemia10.4
19tay-sachs disease, b variant, juvenile form10.4
20tay-sachs disease, b variant, infantile form10.4
21tay-sachs disease, b variant, adult form10.4
22juvenile hexosaminidase a deficiency10.3
23chronic and adult-onset hexosaminidase a deficiency10.3
24cerebral lipidosis10.3
25phenylketonuria10.3
26alzheimer's disease10.3
27friedreich ataxia10.3
28achalasia10.3
29niemann-pick disease10.3
30autosomal recessive disease10.3
31encephalitis10.3
32lipodystrophy10.3
33neuropathy10.3
34peripheral neuropathy10.3
35retinitis10.3
36schizophrenia10.3
37genetic brain disorders10.3
38sickle cell disease10.3
39gm1 gangliosidosis type 110.3
40precocious puberty10.3
41gm2 activator deficiency10.3
42mental retardation10.3
43ataxia10.3
44sandhoff disease, infantile, juvenile, and adult forms10.3
45burns10.2
46progressive muscular atrophy10.2
47normal pressure hydrocephalus10.2
48arachnoiditis10.2
49dementia10.2
50gangliosidosis gm210.2

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



Diseases related to tay-sachs disease

Symptoms for Tay-Sachs Disease

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

272800

Clinical features from OMIM:

272800

Symptoms:

50 (show all 22)
  • myotonia
  • hypertonia/spasticity/rigidity/stiffness
  • hypotonia
  • repeat respiratory infections
  • splenomegaly
  • hepatomegaly/liver enlargement (excluding storage disease)
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • 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
  • macrocephaly/macrocrania/megalocephaly/megacephaly

Drugs & Therapeutics for Tay-Sachs Disease

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 32LifeMap Discoveryā„¢, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Tay-Sachs Disease

Drug clinical trials:

Search ClinicalTrials for Tay-Sachs Disease

Search NIH Clinical Center for Tay-Sachs Disease

Search CenterWatch 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

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21GeneTests, 23GTR
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Genetic tests related to Tay-Sachs Disease:

id Genetic test Affiliating Genes
1 Hexosaminidase a Deficiency21 HEXA
2 Tay-Sachs Disease21 23

Anatomical Context for Tay-Sachs Disease

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34MalaCards
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MalaCards organs/tissues related to Tay-Sachs Disease:

34
Brain, Testes, Spinal cord, Eye, Bone, Liver, Retina, Lung, Kidney, Fetal brain

Animal Models for Tay-Sachs Disease or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Tay-Sachs Disease:

38
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

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53PubMed
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Articles related to Tay-Sachs Disease:

(show top 50)    (show all 489)
idTitleAuthorsYear
1
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. (22723944)
2012
2
Unilaterally and rapidly progressing white matter lesion and elevated cytokines in a patient with Tay-Sachs disease. (19278800)
2010
3
Novel human pathological mutations. Gene symbol: HEXA. Disease: Tay-Sachs disease. (19644708)
2009
4
Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil. (16948947)
2006
5
A direct gene transfer strategy via brain internal capsule reverses the biochemical defect in Tay-Sachs disease. (15961412)
2005
6
Tay-Sachs disease in Brazilian patients: prevalence of the IVS7+1g>c mutation. (15065574)
2004
7
Evaluation of a Tay-Sachs disease screening program. (12752571)
2003
8
Early epidemiologic studies of Tay-Sachs disease. (11596987)
2001
9
Screening and prevention in Tay-Sachs disease: origins, update, and impact. (11596988)
2001
10
Observations on time course changes of the cherry red spot in a patient with Tay-Sachs disease. (11203170)
2000
11
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
12
The Tay-Sachs disease prevention program in Australia: Sydney pilot study. (7565235)
1995
13
Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease. (8747922)
1995
14
Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay-Sachs disease. (7749419)
1995
15
Detection of Tay-Sachs disease carriers among individuals with thermolabile hexosaminidase B. (8003579)
1994
16
Collaborative study of the molecular epidemiology of Tay-Sachs disease in Europe. (8044648)
1993
17
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
18
An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease. (1301958)
1992
19
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
20
A new point mutation within exon 5 of beta-hexosaminidase alpha gene in a Japanese infant with Tay-Sachs disease. (2141777)
1990
21
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
22
A shortened beta-hexosaminidase alpha-chain in an Italian patient with infantile Tay-Sachs disease. (2954459)
1987
23
Tay-Sachs disease with hexosaminidase A: characterization of the defective enzyme in two patients. (2959149)
1987
24
Tay-Sachs disease heterozygote detection in Brazil: comparison between tears and leukocytes as beta-hexosaminidase A source. (6234430)
1984
25
Tay-Sachs disease and normal cerebellar cells in culture: elevated levels of lysosomal enzymes in Tay-Sachs disease cells. (6816949)
1982
26
Hexosaminidase C in brain affected by Tay-Sachs Disease. (7268761)
1981
27
Tay-Sachs disease brain cells in culture: mobilization of stored GM2 after concanavalin A-mediated uptake of hexosaminidase A. (7441795)
1980
28
Demonstration of cross-reacting material in Tay-Sachs disease. (89845)
1979
29
Juvenile Sandhoff Disease: complementation tests with Sandhoff and Tay-Sachs disease using polyethylene glycol-induced cell fusion. (417993)
1978
30
Tay-Sachs disease: heterozygote screening and prenatal diagnosis--U.S. experience and world perspective. (601074)
1977
31
A method for analysing fertility of heterozygotes for autosomal recessive disorders, with special reference to cystic fibrosis, Tay-Sachs disease and phenylketonuria. (848858)
1977
32
Tay-Sachs disease: an improved, fully-automated method for heterozygote identification by tear beta-hexosaminidase assay. (872421)
1977
33
Letter: Use of demographic data in screening for Tay-Sachs disease. (932893)
1976
34
Tay-Sachs disease; what is it? (1048897)
1975
35
Letter: Amniocentesis in tay-Sachs disease. (1172949)
1975
36
Caveats of antenatal diagnosis of Tay-Sachs disease. (4685506)
1973
37
Tay-Sachs disease. (4714279)
1973
38
A screening program for Tay-Sachs disease in Israel. (4775113)
1973
39
Enzymic differentiation between different types of Tay-Sachs disease of similar clinical appearance. (4336274)
1972
40
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
41
Serum aldolase in Tay-Sachs disease and in fructose intolerance. (5129546)
1971
42
Abnormality of cerebral neutral lipids and glycolipids in a case of Tay-Sachs disease which appeared in siblings. (5313762)
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

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Tay-Sachs Disease:

65 (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:

1 (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

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2BioGPS, 16Gene Expression Omnibus DataSets
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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

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Sources:
51PathCards, 31KEGG, 39NCBI BioSystems Database, 56Reactome
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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 biosynthesis39
N-acetylglucosamine degradation I39
CMP-N-acetylneuraminate biosynthesis I (eukaryotes)39
UDP-D-xylose and UDP-D-glucuronate biosynthesis39
N-acetylglucosamine degradation II39
UDP-N-acetyl-D-glucosamine biosynthesis II39
UDP-N-acetyl-D-galactosamine biosynthesis II39
GDP-L-fucose biosynthesis I (from GDP-D-mannose)39
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 Metabolism39
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

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Sources:
46Novoseek, 25HMDB
See all sources

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

(show top 50)    (show all 145)
idCompoundScoreTop Affiliating Genes
1g(m2) ganglioside4610.1HEXB, HEXA
2Ganglioside GA2 (d18:1/12:0)259.9HEXB, HEXA, GM2A
3Ganglioside GA2 (d18:1/24:1(15Z))259.9GM2A, HEXB, HEXA
4Ganglioside GA2 (d18:1/24:0)259.9HEXB, GM2A, HEXA
5Ganglioside GA2 (d18:1/22:0)259.9HEXB, HEXA, GM2A
6Ganglioside GA2 (d18:1/20:0)259.9HEXA, HEXB, GM2A
7Ganglioside GA2 (d18:1/18:0)259.8HEXA, HEXB, GM2A
8Ganglioside GA2 (d18:1/9Z-18:1)259.8HEXA, HEXB, GM2A
9Ganglioside GA2 (d18:1/25:0)259.8GM2A, HEXB, HEXA
10Ganglioside GA2 (d18:1/26:0)259.8HEXB, HEXA, GM2A
11Ganglioside GA2 (d18:1/26:1(17Z))259.8GM2A, HEXB, HEXA
12Ganglioside GA2 (d18:1/16:0)259.8HEXA, HEXB, GM2A
13Ganglioside GM3 (d18:1/24:1(15Z))259.7HEXA, HEXB, GM2A
14Ganglioside GM3 (d18:1/24:0)259.7HEXA, HEXB, GM2A
15sulfatide469.7ARSA, PSAP, GM2A
16cerebroside469.7ARSA, GLA, HEXA
17Ganglioside GM3 (d18:1/22:0)259.7HEXA, HEXB, GM2A
18Ganglioside GM3 (d18:1/20:0)259.7HEXA, HEXB, GM2A
19Ganglioside GM3 (d18:1/18:0)259.7HEXA, GM2A, HEXB
20Ganglioside GM3 (d18:1/16:0)259.7GM2A, HEXA, HEXB
21Ganglioside GM3 (d18:1/9Z-18:1)259.6HEXA, HEXB, GM2A
22Ganglioside GM3 (d18:1/12:0)259.6HEXB, GM2A, HEXA
23glycosphingolipid469.6GLA, PSAP, ARSA
24Ganglioside GM3 (d18:1/26:1(17Z)))259.5HEXA, HEXB, GM2A
25Ganglioside GM3 (d18:1/26:0)259.5HEXA, HEXB, GM2A
26Ganglioside GM2 (d18:1/12:0)259.5HEXA, HEXB, GM2A
27Trihexosylceramide (d18:1/18:0)259.5GM2A, HEXB, GLA, HEXA
28Trihexosylceramide (d18:1/22:0)259.5GLA, HEXB, HEXA, GM2A
29Trihexosylceramide (d18:1/24:0)259.5GLA, GM2A, HEXB, HEXA
30Trihexosylceramide (d18:1/16:0)259.5HEXA, HEXB, GM2A, GLA
31Trihexosylceramide (d18:1/20:0)259.5HEXA, HEXB, GM2A, GLA
32Trihexosylceramide (d18:1/12:0)259.5HEXA, HEXB, GM2A, GLA
33Trihexosylceramide (d18:1/9Z-18:1)259.5HEXA, GLA, GM2A, HEXB
34Trihexosylceramide (d18:1/26:1(17Z))259.5GLA, GM2A, HEXB, HEXA
35Trihexosylceramide (d18:1/25:0)259.4HEXA, HEXB, GLA, GM2A
36Trihexosylceramide (d18:1/24:1(15Z))259.4GLA, GM2A, HEXB, HEXA
37Lactosylceramide (d18:1/16:0)259.4HEXA, HEXB, GM2A, GLA
38Lactosylceramide (d18:1/24:1(15Z))259.4GLA, GM2A, HEXB, HEXA
39Lactosylceramide (d18:1/12:0)259.4HEXA, HEXB, GM2A, GLA
40Lactosylceramide (d18:1/25:0)259.4GLA, HEXA, HEXB, GM2A
41Lactosylceramide (d18:1/26:1(17Z))259.4HEXA, HEXB, GM2A, GLA
42Lactosylceramide (d18:1/26:0)259.4HEXA, HEXB, GM2A, GLA
43Ganglioside GM3 (d18:1/25:0)259.4HEXA, GM2A, HEXB
44mannose469.2ARSA, HEXA, GLA, HEXB
45Ganglioside GM2 (d18:1/16:0)259.2HEXA, HEXB, GM2A
46glycolipid469.1PSAP, GLA, HEXB, HEXA, GM2A
47valine468.9PSAP, VIM, ARSA, GLA
48mannose 6-phosphate46 259.7ARSA, GLA, PSAP, HEXB, HEXA, GM2A
49lipid468.3GM2A, VIM, HEXA, ARSA, PSAP, GLA
50ganglioside468.1VIM, HEXA, GM2A, PSAP, GLA, ARSA

GO Terms for genes affiliated with Tay-Sachs Disease

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Sources:
17Gene Ontology
See all sources

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:00931310.0GM2A, HEXB
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:0070409.9HEXB, HEXA
7keratan sulfate metabolic processGO:0423399.8HEXB, HEXA
8chondroitin sulfate metabolic processGO:0302049.8HEXB, HEXA
9ganglioside catabolic processGO:0066899.8HEXA, HEXB, GM2A
10lipid storageGO:0199159.7GM2A, HEXB, HEXA
11neuromuscular process controlling balanceGO:0508859.7HEXA, HEXB, GM2A
12myelinationGO:0425529.7HEXA, HEXB
13carbohydrate metabolic processGO:0059758.7HEXB, HEXDC, HEXA
14glycosphingolipid metabolic processGO:0066878.6ARSA, GLA, PSAP, GM2A, HEXB, HEXA
15sphingolipid metabolic processGO:0066658.6HEXA, HEXB, GM2A, PSAP, GLA, ARSA
16small molecule metabolic processGO:0442818.5HEXA, HEXB, GM2A, PSAP, GLA, ARSA

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tay-Sachs Disease

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet