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 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 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)
  • 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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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
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
Achalasia in a patient with adult-onset Tay-Sachs disease. (16416225)
2006
5
Substrate reduction therapy in the infantile form of Tay-Sachs disease. (16434676)
2006
6
Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. (15714079)
2005
7
Multiplexed fluorescence analysis for mutations causing Tay-Sachs disease. (12491928)
2003
8
Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling. (12019216)
2002
9
Tay-Sachs disease: psychologic care of carriers and affected families. (11596995)
2001
10
Not preventing--yet, just avoiding Tay-Sachs disease. (11596989)
2001
11
Observations on time course changes of the cherry red spot in a patient with Tay-Sachs disease. (11203170)
2000
12
A novel mutation in the HEXA gene specific to Tay-Sachs disease carriers of Jewish Iraqi origin. (10852376)
2000
13
Biallelic discrimination assays for the three common Ashkenazi Jewish mutations and a common non-Jewish mutation, in Tay-Sachs disease, using fluorogenic TaqMan probes. (11216658)
2000
14
Naturally occurring GM2 gangliosidosis in two Muntjak deer with pathological and biochemical features of human classical Tay-Sachs disease (type B GM2 gangliosidosis). (9930895)
1999
15
At least six different mutations in HEXA gene cause Tay-Sachs disease among the Turkish population. (9851891)
1998
16
Simultaneous amplification of the two most frequent mutations of infantile Tay-Sachs disease in single blastomeres. (8567876)
1995
17
Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England. (7717398)
1995
18
Tay-Sachs disease with atypical chronic course and limited brain storage: alpha-locus hexosaminidase genetic compound. (8786818)
1995
19
Molecular genetics of Tay-Sachs disease in Japan. (7837766)
1994
20
Tay-Sachs disease screening and diagnosis: evolving technologies. (8397824)
1993
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
Rapid nonradioactive tracer method for detecting carriers of the major Ashkenazi Jewish Tay-Sachs disease mutations. (1424119)
1992
23
The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada. (1483696)
1992
24
A nursing challenge: adult-onset Tay-Sachs disease. (1759864)
1991
25
Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests. (2355960)
1990
26
Immunohistochemical demonstration of GM2-ganglioside in the central nervous system of a 19-week-old fetus of Tay-Sachs disease. (2512447)
1989
27
Fighting tay-sachs disease. (2748385)
1989
28
Composition of gangliosides and neutral glycosphingolipids of brain in classical Tay-Sachs and Sandhoff disease: more lyso-GM2 in Sandhoff disease? (3612128)
1987
29
Selective birth in a case of twins discordant for Tay Sachs disease. (6741415)
1984
30
Prenatal diagnosis of Tay-Sachs disease. Reflectometry of hexosaminidase A, B, and C/S bands on zymograms. (6228513)
1983
31
Enzyme replacement treatment for Tay-Sachs disease brain cells in culture utilizing concanavalin A-mediated hexosaminidase A uptake: biochemical and morphological evidence of GM2 mobilization. (7376831)
1980
32
An autopsy case of Tay-Sachs disease--with special reference to axonal swellings of the central nervous system and freeze-fracture replication studies of the membranous cytoplasmic bodies. (7262729)
1980
33
Demonstration of cross-reacting material in Tay-Sachs disease. (89845)
1979
34
Tay-Sachs disease: genetic drift among the Ashkenazim Jews. (897699)
1977
35
Hexosaminidase A analysis of various biological fluids by pH inactivation for the identification of Tay-Sachs disease genotypes. (23555)
1977
36
Electroretinogram and visually evoked cortical potential in Tay-Sachs disease: a report of two cases. (1018206)
1976
37
Tay-Sachs disease: case reports with emphasis on chromatographic study of rectal biopsy. (1132610)
1975
38
Social aspects of genetic screening for Tay-Sachs disease: the pilot community screening program in Baltimore and Washington. (1198132)
1975
39
Letter: Prenatal diagnosis of Tay-Sachs disease. (4128752)
1973
40
Hexosaminidase A in tears and saliva for rapid identification of Tay-Sachs disease and its carriers. (4128049)
1973
41
Tay-Sachs disease: interrelation of hexosaminidases A and B. (4109961)
1972
42
Screening for Tay-Sachs disease in utero using amniotic fluid. (5554477)
1971
43
Enzyme alterations and lipid storage in three variants of Tay-Sachs disease. (5135907)
1971
44
Deficient hexozaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs. (5651108)
1968
45
Two cases of Tay-Sachs disease and a case of atypical gargolylism. (4972157)
1968
46
Brain ceramide hexosides in Tay-Sachs disease and generalized gangliosidosis (GM1-gangliosidosis). (14564716)
1967
47
Tay-Sachs disease. (6076407)
1967
48
Tay-Sachs disease in a Puerto Rican infant. (5232880)
1967
49
Symposium on metabolic diseases of the eye. Tay-Sachs disease and allied conditions. (14011417)
1963
50
Increased oxidation of p-phenylenediamine by serum of patients with Tay-Sachs disease. (13634329)
1959

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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Sources:
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

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