Matches in DBpedia 2015-10 for { <http://dbpedia.org/resource/Tay–Sachs_disease> ?p ?o }
- Tay–Sachs_disease abstract "Tay–Sachs disease (also known as GM2 gangliosidosis or hexosaminidase A deficiency) is a rare autosomal recessive genetic disorder. In its most common variant (known as infantile Tay–Sachs disease), it causes a progressive deterioration of nerve cells and of mental and physical abilities that begins around six months of age and usually results in death by the age of four. The disease occurs when harmful quantities of cell membrane components known as gangliosides accumulate in the brain's nerve cells, eventually leading to the premature death of the cells. A ganglioside is a form of sphingolipid, which makes Tay–Sachs disease a member of the sphingolipidoses. There is no known cure or treatment.The disease is named after the British ophthalmologist Waren Tay, who in 1881 first described a symptomatic red spot on the retina of the eye; and after the American neurologist Bernard Sachs of Mount Sinai Hospital, New York, who described in 1887 the cellular changes of Tay–Sachs disease and noted an increased disease prevalence in Ashkenazi Jewish people.Research in the late 20th century demonstrated that Tay–Sachs disease is caused by a genetic mutation in the HEXA gene on (human) chromosome 15. A large number of HEXA mutations have been discovered, and new ones are still being reported. These mutations reach significant frequencies in specific populations. French Canadians of southeastern Quebec have a carrier frequency similar to that seen in Ashkenazi Jews, but carry a different mutation. Cajuns of southern Louisiana carry the same mutation that is seen most commonly in Ashkenazi Jews. HEXA mutations are rare and are most seen in genetically isolated populations. Tay–Sachs can occur from the inheritance of either two similar, or two unrelated, causative mutations in the HEXA gene.As an autosomal recessive disorder, two Tay–Sachs alleles are required for an individual to exhibit symptoms of the disease. Carriers of a single Tay–Sachs allele do not exhibit symptoms of the disease but appear to be protected to some extent against tuberculosis. This accounts for the persistence of the allele in certain populations in that it confers a selective advantage—in other words, being a heterozygote is advantageous.".
- Tay–Sachs_disease icd10 "E75.0".
- Tay–Sachs_disease icd9 "330.1".
- Tay–Sachs_disease meshId "D013661".
- Tay–Sachs_disease omim "272800".
- Tay–Sachs_disease thumbnail Tay-sachsUMich.jpg?width=300.
- Tay–Sachs_disease wikiPageExternalLink NBK1218.
- Tay–Sachs_disease wikiPageExternalLink bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.238.
- Tay–Sachs_disease wikiPageExternalLink taysachs.htm.
- Tay–Sachs_disease wikiPageID "56481".
- Tay–Sachs_disease wikiPageLength "48724".
- Tay–Sachs_disease wikiPageOutDegree "211".
- Tay–Sachs_disease wikiPageRevisionID "681947418".
- Tay–Sachs_disease wikiPageWikiLink Active_site.
- Tay–Sachs_disease wikiPageWikiLink Adolescence.
- Tay–Sachs_disease wikiPageWikiLink Adult.
- Tay–Sachs_disease wikiPageWikiLink Allele.
- Tay–Sachs_disease wikiPageWikiLink Amniocentesis.
- Tay–Sachs_disease wikiPageWikiLink Ashkenazi.
- Tay–Sachs_disease wikiPageWikiLink Ashkenazi_Jew.
- Tay–Sachs_disease wikiPageWikiLink Ashkenazi_Jewish.
- Tay–Sachs_disease wikiPageWikiLink Ashkenazi_Jews.
- Tay–Sachs_disease wikiPageWikiLink Ataxia.
- Tay–Sachs_disease wikiPageWikiLink Atrophy.
- Tay–Sachs_disease wikiPageWikiLink Autosomal_recessive.
- Tay–Sachs_disease wikiPageWikiLink Balancing_selection.
- Tay–Sachs_disease wikiPageWikiLink Base_pair.
- Tay–Sachs_disease wikiPageWikiLink Bernard_Sachs.
- Tay–Sachs_disease wikiPageWikiLink Biochemistry.
- Tay–Sachs_disease wikiPageWikiLink Biodegradation.
- Tay–Sachs_disease wikiPageWikiLink Birth.
- Tay–Sachs_disease wikiPageWikiLink Blindness.
- Tay–Sachs_disease wikiPageWikiLink Blood_test.
- Tay–Sachs_disease wikiPageWikiLink Blood–brain_barrier.
- Tay–Sachs_disease wikiPageWikiLink Cajun.
- Tay–Sachs_disease wikiPageWikiLink Catalysis.
- Tay–Sachs_disease wikiPageWikiLink Category:Ashkenazi_Jews_topics.
- Tay–Sachs_disease wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Tay–Sachs_disease wikiPageWikiLink Category:Lipid_storage_disorders.
- Tay–Sachs_disease wikiPageWikiLink Category:Lysosomal_storage_diseases.
- Tay–Sachs_disease wikiPageWikiLink Category:Neurodegenerative_disorders.
- Tay–Sachs_disease wikiPageWikiLink Category:Neurological_disorders_in_children.
- Tay–Sachs_disease wikiPageWikiLink Category:Rare_diseases.
- Tay–Sachs_disease wikiPageWikiLink Category:Tay–Sachs_disease.
- Tay–Sachs_disease wikiPageWikiLink Cell_(biology).
- Tay–Sachs_disease wikiPageWikiLink Cell_membrane.
- Tay–Sachs_disease wikiPageWikiLink Ceramide_glucosyltransferase.
- Tay–Sachs_disease wikiPageWikiLink Cerebrospinal_fluid.
- Tay–Sachs_disease wikiPageWikiLink Chorionic_villus_sampling.
- Tay–Sachs_disease wikiPageWikiLink Choroid.
- Tay–Sachs_disease wikiPageWikiLink Chromosome_15.
- Tay–Sachs_disease wikiPageWikiLink Chromosome_15_(human).
- Tay–Sachs_disease wikiPageWikiLink Clinical_trial.
- Tay–Sachs_disease wikiPageWikiLink Clinical_trials.
- Tay–Sachs_disease wikiPageWikiLink Coalescence_(genetics).
- Tay–Sachs_disease wikiPageWikiLink Coalescent_theory.
- Tay–Sachs_disease wikiPageWikiLink Cofactor_(biochemistry).
- Tay–Sachs_disease wikiPageWikiLink Cognition.
- Tay–Sachs_disease wikiPageWikiLink Cognitive.
- Tay–Sachs_disease wikiPageWikiLink Complementary_DNA.
- Tay–Sachs_disease wikiPageWikiLink Compound_heterozygosity.
- Tay–Sachs_disease wikiPageWikiLink Cystic_fibrosis.
- Tay–Sachs_disease wikiPageWikiLink DNA_sequencing.
- Tay–Sachs_disease wikiPageWikiLink Deaf.
- Tay–Sachs_disease wikiPageWikiLink Diabetes.
- Tay–Sachs_disease wikiPageWikiLink Diabetes_mellitus.
- Tay–Sachs_disease wikiPageWikiLink Differential_diagnosis.
- Tay–Sachs_disease wikiPageWikiLink Directional_selection.
- Tay–Sachs_disease wikiPageWikiLink Dominance_(genetics).
- Tay–Sachs_disease wikiPageWikiLink Dominance_versus_overdominance.
- Tay–Sachs_disease wikiPageWikiLink Dor_Yeshorim.
- Tay–Sachs_disease wikiPageWikiLink Dysarthria.
- Tay–Sachs_disease wikiPageWikiLink Dysgenics.
- Tay–Sachs_disease wikiPageWikiLink Dysphagia.
- Tay–Sachs_disease wikiPageWikiLink Eastern_Europe.
- Tay–Sachs_disease wikiPageWikiLink Enzyme.
- Tay–Sachs_disease wikiPageWikiLink Enzyme_assay.
- Tay–Sachs_disease wikiPageWikiLink Enzyme_inhibitor.
- Tay–Sachs_disease wikiPageWikiLink Enzyme_replacement_therapy.
- Tay–Sachs_disease wikiPageWikiLink Enzymes.
- Tay–Sachs_disease wikiPageWikiLink Exon.
- Tay–Sachs_disease wikiPageWikiLink Fatty_acid.
- Tay–Sachs_disease wikiPageWikiLink Fibroblast.
- Tay–Sachs_disease wikiPageWikiLink File:Autorecessive.svg.
- Tay–Sachs_disease wikiPageWikiLink File:Hexachr15.jpg.
- Tay–Sachs_disease wikiPageWikiLink Fitness_(biology).
- Tay–Sachs_disease wikiPageWikiLink Founder_effect.
- Tay–Sachs_disease wikiPageWikiLink Fovea_centralis.
- Tay–Sachs_disease wikiPageWikiLink French_Canadian.
- Tay–Sachs_disease wikiPageWikiLink French_Canadians.
- Tay–Sachs_disease wikiPageWikiLink Friedreichs_ataxia.
- Tay–Sachs_disease wikiPageWikiLink GM2-gangliosidosis,_AB_variant.
- Tay–Sachs_disease wikiPageWikiLink GM2_gangliosidoses.
- Tay–Sachs_disease wikiPageWikiLink Gait.
- Tay–Sachs_disease wikiPageWikiLink Ganglioside.
- Tay–Sachs_disease wikiPageWikiLink Gaucher_disease.
- Tay–Sachs_disease wikiPageWikiLink Gauchers_disease.
- Tay–Sachs_disease wikiPageWikiLink Gene.
- Tay–Sachs_disease wikiPageWikiLink Genetic_carrier.
- Tay–Sachs_disease wikiPageWikiLink Genetic_counseling.