TSD
MCID: TYS001
MIFTS: 82

Tay-Sachs Disease (TSD) malady

Metabolic diseases, Neuronal diseases, Eye diseases categories

Summaries for Tay-Sachs Disease

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 43NINDS, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: Tay-Sachs Disease, also known as hexosaminidase a deficiency, is related to gangliosidosis and sandhoff disease, and has symptoms including lipidosis/sulfatidosis, myotonia and movement disorder. An important gene associated with Tay-Sachs Disease is HEXA (hexosaminidase A (alpha polypeptide)), and among its related pathways are Ganglio Sphingolipid Metabolism and Glycosaminoglycan degradation. The compounds g(m2) ganglioside and jw 480 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 nervous 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:63 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

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Sources:
8Disease Ontology, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 30LifeMap Discovery™, 60UMLS, 34MeSH, 39NCIt, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

tay-sachs disease 8 63 21 43 46 10 44 48 33 30 60
hexosaminidase a deficiency 8 63 19 42 20 21 48
hexosaminidase alpha-subunit deficiency 63 21 60
gm2 gangliosidosis, type 1 63 42 21
gm2 gangliosidosis 19 44 48
tay sachs disease 42 20 22
hexa deficiency 63 42 21
b variant gm2 gangliosidosis 42 21
sphingolipidosis, tay-sachs 63 21
tsd 63 21
gm2-gangliosidosis, b, b1 variant 48
lipidosis, ganglioside, infantile 63
gangliosidosis gm2 , type 1 42
gangliosidoses, gm2 60
disease, tay-sachs 8
hex a deficiency 19


External Ids:

Disease Ontology8 DOID:3320
MeSH34 D013661
OMIM46 272800
NCIt39 C85184
MESH via Orphanet35 D013661
SNOMED-CT56 111385000
ICD10 via Orphanet26 E75.0
SNOMED-CT via Orphanet57 111385000, 33316007
UMLS via Orphanet61 C0039373, C1848922
ICD1025 E75.0

Related Diseases for Tay-Sachs Disease

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Sources:
17GeneCards, 18GeneDecks
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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 84)
idRelated DiseaseScoreTop Affiliating Genes
1gangliosidosis31.0HEXA, HEXB, PSAP
2sandhoff disease30.9HEXA, HEXDC, HEXB, ARSA, SHD, GM2A
3leukodystrophy30.7PSAP
4metachromatic leukodystrophy30.7ARSA, PSAP
5gangliosidosis gm130.6HEXA, PSAP, ARSA, GLA
6cerebral lipidosis30.3ARSA
7schizophrenia30.3ARSA
8sphingolipidosis30.3ARSA, PSAP
9fabry disease30.3GLA, ARSA, PSAP
10lysosomal storage disease30.3HEXA, HEXB, PSAP, ARSA, GLA
11brain disease10.9
12alpha chain disease10.6
13motor neuron disease10.6
14cystic fibrosis10.6
15gangliosidosis gm210.6
16leukocyte disease10.6
17cerebritis10.5
18tay-sachs disease ab variant10.5
19neuronitis10.5
20central nervous system disease10.5
21nervous system disease10.5
22autosomal recessive disease10.5
23cerebellar disease10.5
24thalassemia10.5
25gm2-gangliosidosis, ab variant10.5
26beta thalassemia10.4
27pick's disease10.4
28eye disease10.4
29hair disease10.4
30kidney disease10.4
31lipid storage disease10.4
32tay-sachs disease, b variant, juvenile form10.4
33tay-sachs disease, b variant, infantile form10.4
34tay-sachs disease, b1 variant10.4
35tay-sachs disease, b variant, adult form10.4
36gm2 gangliosidosis, 0 variant10.3
37adult syndrome10.2
38juvenile hexosaminidase a deficiency10.2
39chronic and adult-onset hexosaminidase a deficiency10.2
40corneal disease10.2
41niemann-pick disease10.2
42friedreich ataxia10.2
43achalasia10.2
44phenylketonuria10.2
45alzheimer's disease10.2
46chromosomal disease10.2
47encephalitis10.2
48lipodystrophy10.2
49movement disease10.2
50neuropathy10.2

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



Diseases related to tay-sachs disease

Clinical Features for Tay-Sachs Disease

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46OMIM, 48Orphanet
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Clinical features from OMIM:

272800

Clinical synopsis from OMIM:

272800

Symptoms:

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

Drugs & Therapeutics for Tay-Sachs Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
See all sources

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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Sources:
20GeneTests, 22GTR
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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

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Sources:
32MalaCards
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MalaCards organs/tissues related to Tay-Sachs Disease:

32
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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Sources:
36MGI
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MGI Mouse Phenotypes related to Tay-Sachs Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.2ARSA, PSAP, HEXB, HEXA
2MP:00036317.8VIM, BRCA2, HEXA, HEXB, PSAP, ARSA
3MP:00053867.6GM2A, VIM, BRCA2, HEXA, HEXB, PSAP

Publications for Tay-Sachs Disease

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Sources:
50PubMed
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Articles related to Tay-Sachs Disease:

(show top 50)    (show all 506)
idTitleAuthorsYear
1
High school Tay-Sachs disease carrier screening: 5 to 11-year follow-up. (23893770)
2013
2
Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews. (23230938)
2012
3
Late-onset Tay-Sachs disease presenting as a childhood stutter. (19091716)
2009
4
Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study. (18618288)
2008
5
Production of recombinant beta-hexosaminidase A, a potential enzyme for replacement therapy for Tay-Sachs and Sandhoff diseases, in the methylotrophic yeast Ogataea minuta. (17557860)
2007
6
A direct gene transfer strategy via brain internal capsule reverses the biochemical defect in Tay-Sachs disease. (15961412)
2005
7
Late-onset Tay-Sachs disease as a Friedreich ataxia phenocopy. (12433276)
2002
8
Tay-Sachs disease screening and counseling families at risk for metabolic disease. (12108829)
2002
9
Discovery of beta-hexosaminidase A deficiency in Tay-Sachs disease. (11596999)
2001
10
Barney Sachs and the history of the neuropathologic description of Tay-Sachs disease. (11596977)
2001
11
Novel mutations, including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease. (10083731)
1999
12
Carrier screening for cystic fibrosis, Gaucher disease, and Tay-Sachs disease in the Ashkenazi Jewish population: the first 1000 cases at New York University Medical Center, New York, NY. (9554684)
1998
13
Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene. (9090523)
1997
14
An A-to-G mutation at the +3 position of intron 8 of the HEXA gene is associated with exon 8 skipping and Tay-Sachs disease. (7551830)
1995
15
Beta-hexosaminidase: biosynthesis and processing of the normal enzyme, and identification of mutations causing Jewish Tay-Sachs disease. (7628066)
1995
16
Molecular epidemiology of Tay-Sachs disease in Europe. (7858168)
1994
17
Tay-Sachs disease in an Israeli Arab family: Trp26-->stop in the alpha-subunit of hexosaminidase A. (8257995)
1993
18
A G to C transversion in codon 258 of the alpha-subunit of beta-hexosaminidase A in an infant Tay-Sachs disease patient. (8111418)
1993
19
Impaired sulphated glycosaminoglycan metabolism in a patient with GM-2 gangliosidosis (Tay-Sachs disease). (2174089)
1990
20
Gangliosides in SV-40-transformed cells derived from Tay-Sachs disease fetal brain. (2547146)
1989
21
Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. I. Statistical methods. (4050790)
1985
22
Tay-Sachs disease: knowledge and attitudes of the rabbinical community. (3859903)
1985
23
Tay-Sachs disease and the role of reproductive compensation in the maintenance of ethnic variations in the incidence of autosomal recessive disease. (6465844)
1984
24
Retinal amacrine cell involvement in Tay-Sachs disease. (7223376)
1981
25
Tay-Sachs disease brain cells in culture: mobilization of stored GM2 after concanavalin A-mediated uptake of hexosaminidase A. (7441795)
1980
26
Screening for Tay-Sachs disease. (746478)
1978
27
Tay-Sachs disease: heterozygote screening and prenatal diagnosis--U.S. experience and world perspective. (601074)
1977
28
Tay-Sachs disease, wrongful life, and preventive malpractive. (869092)
1977
29
A molecular variant of Tay-Sachs disease in a non-Ashkenazi Jewish family. (601076)
1977
30
Tay-Sachs disease in a Moroccan Jewish family: a possible new mutation. (1017941)
1976
31
Letter: Demographic data as graphic aid in screening program for Tay-Sachs disease. (1159604)
1975
32
Asialo GM-ganglioside in brain fetal Tay-Sachs disease. (1110360)
1975
33
Tay Sachs disease in a child and management of a subsequent pregnancy. (1215379)
1975
34
Carrier detection and prenatal diagnosis of Tay-Sachs disease. (4449870)
1974
35
Letter: Amniocentesis in Tay-Sachs disease. (4406299)
1974
36
Ultrastructural studies of eight cases of fetal Tay-Sachs disease. (4360066)
1974
37
Immunochemical characterization of human beta-D-N-acetyl hexosaminidase from normal individuals and patients with Tay-Sachs disease. I. Antigenic differences between hexosaminidase A and hexosaminidase B. (4132060)
1974
38
Intravenous injection of purified hexosaminidase A into a patient with Tay-Sachs disease. (4611523)
1973
39
Ultrastructural alterations of endocrine glands in Tay-Sachs disease. (4337190)
1972
40
Serum aldolase in Tay-Sachs disease and in fructose intolerance. (5129546)
1971
41
Abnormality of cerebral neutral lipids and glycolipids in a case of Tay-Sachs disease which appeared in siblings. (5313762)
1971
42
The diagnosis of Tay-Sachs disease. (5556383)
1971
43
Detection of Tay-Sachs disease heterozygotes by assay of hexosaminidase A in serum and leukocytes. (5547820)
1971
44
Effect of Triton X-100 on electrophoretic mobility of red blood cell ghosts from normal individuals and patients with Tay-Sachs disease. (4101583)
1971
45
Juvenile GM2-gangliosidosis. Clinical variant of Tay-Sachs disease or a new disease. (5460705)
1970
46
Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay. (4986776)
1970
47
Identification of Tay-Sachs disease carriers by acrylamide gel electrophoresis. (5450163)
1970
48
Demonstration of an alteration of ganglioside metabolism in Tay-Sachs disease. (5388728)
1969
49
Tay-Sachs disease. Four Swedish cases with special regard to a genealogical investigation. (5583282)
1967
50
FORMATION OF THE MEMBRANOUS CYTOPLASMIC BODIES OF TAY-SACHS DISEASE. (14272253)
1963

Genetic Variations for Tay-Sachs Disease

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Tay-Sachs Disease:

62 (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

Expression for genes affiliated with Tay-Sachs Disease

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1BioGPS, 15Gene 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:
37NCBI BioSystems Database, 29KEGG, 53Reactome
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Compounds for genes affiliated with Tay-Sachs Disease

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44Novoseek, 59Tocris Bioscience, 11DrugBank, 24HMDB
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Compounds related to Tay-Sachs Disease according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1g(m2) ganglioside4410.2HEXB, HEXA
2jw 4805910.2HEXA, HEXB
3flurofamide5910.2HEXA, HEXB
4thiamet g5910.2HEXA, HEXB
5(z)-pugnac5910.2HEXA, HEXB
6wwl 705910.2HEXA, HEXB
7galactosylceramide4410.0PSAP, ARSA
8deae-cellulose4410.0HEXA, HEXB
9lactosylceramide4410.0PSAP, GLA
10N-Acetyl-D-glucosamine11 2411.0HEXB, HEXA
112-methoxyethanol449.9GLA, VIM
12sulfatide449.9PSAP, ARSA, GM2A
13cerebroside449.9GLA, ARSA, HEXA
14glucosylceramide44 2410.8PSAP, GLA, GM2A
15glycosphingolipid449.8GLA, ARSA, PSAP
16n-acetylglucosamine449.8ARSA, HEXB, HEXA
17sphingosine44 11 2411.6GM2A, PSAP, VIM
18mannose449.5HEXA, HEXB, ARSA, GLA
19heparan sulfate44 2410.4VIM, HEXA, ARSA
20ceramide449.4GLA, ARSA, PSAP
21valine449.3VIM, PSAP, ARSA, GLA
22glycolipid449.3HEXA, HEXB, PSAP, GLA, GM2A
23hydrogen44 2410.1PSAP, ARSA, GLA, INTS5
24polyacrylamide449.1BRCA2, HEXB, ARSA
25mannose 6-phosphate44 2410.0HEXA, HEXB, PSAP, ARSA, GLA, GM2A
26oligonucleotide448.9ARSA, PSAP, BRCA2, VIM
27lipid448.7VIM, HEXA, PSAP, ARSA, GLA, GM2A
28ganglioside448.5GM2A, VIM, HEXA, HEXB, PSAP, ARSA

GO Terms for genes affiliated with Tay-Sachs Disease

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Sources:
16Gene Ontology
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Cellular components related to Tay-Sachs Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.5GM2A, GLA, ARSA
2lysosomal lumenGO:0432028.3GM2A, GLA, ARSA, PSAP, HEXB, HEXA

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1oligosaccharide catabolic processGO:00931310.1GM2A, HEXB
2keratan sulfate catabolic processGO:04234010.0HEXB, HEXA
3hyaluronan catabolic processGO:03021410.0HEXA, HEXB
4chondroitin sulfate catabolic processGO:03020710.0HEXA, HEXB
5hyaluronan metabolic processGO:0302129.9HEXB, HEXA
6myelinationGO:0425529.9HEXB, HEXA
7ganglioside catabolic processGO:0066899.9GM2A, HEXB, HEXA
8lipid storageGO:0199159.8HEXA, HEXB, GM2A
9neuromuscular process controlling balanceGO:0508859.8HEXA, HEXB, GM2A
10lysosome organizationGO:0070409.8HEXA, HEXB
11keratan sulfate metabolic processGO:0423399.6HEXB, HEXA
12glycosphingolipid metabolic processGO:0066878.9GM2A, GLA, ARSA, PSAP, HEXB, HEXA
13sphingolipid metabolic processGO:0066658.9HEXA, HEXB, PSAP, ARSA, GLA, GM2A
14small molecule metabolic processGO:0442818.8HEXA, HEXB, PSAP, ARSA, GLA, GM2A

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

idNameGO IDScoreTop Affiliating Genes
1beta-N-acetylhexosaminidase activityGO:0045638.8GM2A, HEXB, HEXDC, HEXA

Products for genes affiliated with Tay-Sachs Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tay-Sachs Disease

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet