TSD
MCID: TYS001
MIFTS: 58

Tay-Sachs Disease (TSD) malady

Metabolic, Neuronal, Eye categories

Summaries for Tay-Sachs Disease

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 44NINDS, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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MedlinePlus:34 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 sandhoff disease and metachromatic 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 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 bone marrow, brain 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:43 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:44 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:64 Tay–Sachs disease (also known as GM2 gangliosidosis or hexosaminidase more...

Description from OMIM:47 272800

GeneReviews summary for tay-sachs

Aliases & Classifications for Tay-Sachs Disease

Sources:
8Disease Ontology, 64Wikipedia, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 34MedlinePlus, 31LifeMap Discovery™, 61UMLS, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 35MeSH, 40NCIt, 57SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
tay-sachs disease:
Inheritance: Autosomal recessive; Age of onset: Variable


Aliases & Descriptions:

tay-sachs disease 8 64 21 44 47 10 45 49 34 31 61
hexosaminidase a deficiency 8 64 19 43 20 21 49
hexosaminidase alpha-subunit deficiency 64 21 61
gm2 gangliosidosis, type 1 64 43 21
gm2 gangliosidosis 19 45 49
tay sachs disease 43 20 22
hexa deficiency 64 43 21
b variant gm2 gangliosidosis 43 21
sphingolipidosis, tay-sachs 64 21
tsd 64 21
gm2-gangliosidosis, b, b1 variant 49
lipidosis, ganglioside, infantile 64
gangliosidosis gm2 , type 1 43
gangliosidoses, gm2 61
disease, tay-sachs 8
hex a deficiency 19


External Ids:

Disease Ontology8 DOID:3320
MeSH35 D013661
OMIM47 272800
NCIt40 C85184
MESH via Orphanet36 D013661
SNOMED-CT57 111385000
ICD10 via Orphanet26 E75.0
SNOMED-CT via Orphanet58 111385000
UMLS via Orphanet62 C0039373, C1848922
ICD1025 E75.0

Related Diseases for Tay-Sachs Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

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 65)
idRelated DiseaseScoreTop Affiliating Genes
1sandhoff disease31.2HEXA, HEXDC, HEXB, ARSA, SHD, GM2A
2metachromatic leukodystrophy30.7ARSA, PSAP
3niemann–pick disease30.7HEXA
4gaucher's disease30.6PSAP
5cerebral lipidosis30.4ARSA
6sphingolipidosis30.4ARSA, PSAP
7fabry disease30.4GLA, ARSA, PSAP
8brain disease10.9
9lip disease10.8
10alpha chain disease10.7
11cystic fibrosis10.6
12tay-sachs disease ab variant10.6
13niemann-pick disease10.5
14pick's disease10.5
15autosomal recessive disease10.5
16thalassemia10.5
17gm2-gangliosidosis, ab variant10.5
18beta thalassemia10.4
19mu chain disease10.4
20tay-sachs disease, b variant, juvenile form10.4
21tay-sachs disease, b variant, infantile form10.4
22tay-sachs disease, b1 variant10.4
23tay-sachs disease, b variant, adult form10.4
24gm2 gangliosidosis, 0 variant10.4
25adult syndrome10.3
26juvenile hexosaminidase a deficiency10.3
27chronic and adult-onset hexosaminidase a deficiency10.3
28corneal disease10.3
29friedreich ataxia10.3
30achalasia10.3
31phenylketonuria10.3
32alzheimer's disease10.3
33n syndrome10.3
34genetic brain disorders10.3
35sickle cell disease10.3
36gm1 gangliosidosis type 110.3
37precocious puberty10.3
38gm2 activator deficiency10.3
39mental retardation10.3
40ataxia10.3
41sandhoff disease, infantile, juvenile, and adult forms10.3
42normal pressure hydrocephalus10.2
43progressive muscular atrophy10.2
44factor v deficiency10.2
45protein c deficiency10.2
46spinocerebellar degeneration10.2
47lateral sclerosis10.1
48internuclear ophthalmoplegia10.1
49sensory peripheral neuropathy10.1
50muscular atrophy10.1

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



Diseases related to tay-sachs disease

Clinical Features for Tay-Sachs Disease

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

272800

Clinical synopsis from OMIM:

272800

Symptoms:

49 (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

Drugs & Therapeutics for Tay-Sachs Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-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

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Tay-Sachs Disease:

33
Bone marrow, Brain, Spinal cord

Animal Models for Tay-Sachs Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Tay-Sachs Disease:

37
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

Genetic Variations for Tay-Sachs Disease

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Tay-Sachs Disease:

63 (show all 44)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 30KEGG, 54Reactome
See all sources

Compounds for genes affiliated with Tay-Sachs Disease

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank, 24HMDB
See all sources

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

(show all 28)
idCompoundScoreTop Affiliating Genes
1g(m2) ganglioside4510.2HEXB, HEXA
2jw 4806010.2HEXA, HEXB
3flurofamide6010.2HEXA, HEXB
4thiamet g6010.2HEXA, HEXB
5(z)-pugnac6010.2HEXA, HEXB
6wwl 706010.2HEXA, HEXB
7galactosylceramide4510.0PSAP, ARSA
8deae-cellulose4510.0HEXA, HEXB
9lactosylceramide4510.0PSAP, GLA
10N-Acetyl-D-glucosamine11 2411.0HEXB, HEXA
112-methoxyethanol459.9GLA, VIM
12sulfatide459.9PSAP, ARSA, GM2A
13cerebroside459.9GLA, ARSA, HEXA
14glucosylceramide45 2410.8PSAP, GLA, GM2A
15glycosphingolipid459.8GLA, ARSA, PSAP
16n-acetylglucosamine459.8ARSA, HEXB, HEXA
17sphingosine45 11 2411.6GM2A, PSAP, VIM
18mannose459.5HEXA, HEXB, ARSA, GLA
19heparan sulfate45 2410.4VIM, HEXA, ARSA
20ceramide459.4GLA, ARSA, PSAP
21valine459.3VIM, PSAP, ARSA, GLA
22glycolipid459.3HEXA, HEXB, PSAP, GLA, GM2A
23hydrogen45 2410.1PSAP, ARSA, GLA, INTS5
24polyacrylamide459.1BRCA2, HEXB, ARSA
25mannose 6-phosphate45 2410.0HEXA, HEXB, PSAP, ARSA, GLA, GM2A
26oligonucleotide458.9ARSA, PSAP, BRCA2, VIM
27lipid458.7VIM, HEXA, PSAP, ARSA, GLA, GM2A
28ganglioside458.5GM2A, VIM, HEXA, HEXB, PSAP, ARSA

GO Terms for genes affiliated with Tay-Sachs Disease

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tay-Sachs Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet