Tay-Sachs Disease malady
Categories: Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Eye diseases
50OMIM, 33LifeMap Discovery®, 11Disease Ontology, 69Wikipedia, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 47NINDS, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 48Novoseek, 36MedlinePlus, 37MeSH, 66UMLS, 12diseasecard, 25GTR, 22GeneReviews, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources
Aliases & Descriptions for Tay-Sachs Disease:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive; Prevalence: 1-5/10000,1-9/1000000 (Europe),1-9/100000 (Portugal),1-9/1000000 (Czech Republic),1-9/1000000 (Australia),1-9/1000000 (Worldwide),1-9/1000000 (Netherlands),1-9/1000000 (Canada),1-9/1000000 (United Arab Emirates),1-9/1000000 (Turkey),1-9/1000000 (Sweden); Age of onset: All ages; Age of death: any age
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Eye diseases
ICD10: 29 28
MedlinePlus:36 Tay-sachs disease is a rare, inherited disease. it is a type of lipid metabolism 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 tay-sachs disease, b1 variant and tay-sachs disease, b variant, infantile form, and has symptoms including macrocephaly, hearing impairment and abnormality of the macula. An important gene associated with Tay-Sachs Disease is HEXA (Hexosaminidase Subunit Alpha), and among its related pathways are Glycosphingolipid biosynthesis - globo series and Defective B4GALT7 causes EDS, progeroid type. Affiliated tissues include brain, testes and spinal cord, and related mouse phenotypes are hearing/vestibular/ear and vision/eye.
NIH Rare Diseases:46 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. tay-sachs disease is inherited in an autosomal recessive pattern. last updated: 1/14/2016
UniProtKB/Swiss-Prot:68 GM2-gangliosidosis 1: An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation in the absence of HEXA activity, leading to neurodegeneration and, in the infantile form, death in early childhood. It exists in several forms: infantile (most common and most severe), juvenile and adult (late-onset).
NINDS:47 Tay-Sachs disease is a inherited metabolic disease caused by the harmful buildup of lipids (fatty materials such as oils and acids) in various cells and tissues in the body.
Genetics Home Reference:24 Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.
OMIM:50 Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile... (272800) more...
Wikipedia:69 Tay–Sachs disease (also known as GM2 gangliosidosis or hexosaminidase A deficiency) is a rare... more...
GeneReviews summary for NBK1218
Symptoms by clinical synopsis from OMIM:272800
Clinical features from OMIM:272800
Symptoms:52 (show all 23)
HPO human phenotypes related to Tay-Sachs Disease:(show all 28)
UMLS symptoms related to Tay-Sachs Disease:back pain, headache, pain, sciatica, seizures, syncope, tremor, apathy, chronic pain, hyperexplexia, vertigo/dizziness, sleeplessness
Drugs for Tay-Sachs Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 21)
Interventional clinical trials:(show all 22)
Search NIH Clinical Center for Tay-Sachs Disease
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Tay-Sachs Disease cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Tay-Sachs Disease:
Embryonic/Adult Cultured Cells Related to Tay-Sachs Disease:
MalaCards organs/tissues related to Tay-Sachs Disease:34
Brain, Testes, Spinal cord, Bone, Eye, Retina, Kidney
MGI Mouse Phenotypes related to Tay-Sachs Disease:39 (show all 13)
Articles related to Tay-Sachs Disease:(show top 50) (show all 509)
UniProtKB/Swiss-Prot genetic disease variations for Tay-Sachs Disease:68 (show all 44)
Clinvar genetic disease variations for Tay-Sachs Disease:5 (show all 55)
Search GEO for disease gene expression data for Tay-Sachs Disease.
Pathways related to Tay-Sachs Disease according to GeneCards Suite gene sharing:
Cellular components related to Tay-Sachs Disease according to GeneCards Suite gene sharing:
Biological processes related to Tay-Sachs Disease according to GeneCards Suite gene sharing:(show all 8)
Molecular functions related to Tay-Sachs Disease according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet