GM2 gangliosidoses (original) (raw)
The GM2 gangliosidoses are a group of three related genetic disorders that result from a deficiency of the enzyme beta-hexosaminidase. This enzyme catalyzes the biodegradation of fatty acid derivatives known as gangliosides. The diseases are better known by their individual names: Tay–Sachs disease, AB variant, and Sandhoff disease.
| Property | Value |
|---|---|
| dbo:abstract | The GM2 gangliosidoses are a group of three related genetic disorders that result from a deficiency of the enzyme beta-hexosaminidase. This enzyme catalyzes the biodegradation of fatty acid derivatives known as gangliosides. The diseases are better known by their individual names: Tay–Sachs disease, AB variant, and Sandhoff disease. Beta-hexosaminidase is a vital hydrolytic enzyme, found in the lysosomes, that breaks down lipids. When beta-hexosaminidase is no longer functioning properly, the lipids accumulate in the nervous tissue of the brain and cause problems. Gangliosides are made and biodegraded rapidly in early life as the brain develops. Except in some rare, late-onset forms, the GM2 gangliosidoses are fatal. All three disorders are rare in the general population. Tay–Sachs disease has become famous as a public health model because an enzyme assay test for TSD was discovered and developed in the late 1960s and early 1970s, providing one of the first "mass screening" tools in medical genetics. It became a research and public health model for understanding and preventing all autosomal genetic disorders. Tay–Sachs disease, AB variant, and Sandhoff disease might easily have been defined together as a single disease, because the three disorders are associated with failure of the same metabolic pathway and have the same outcome. Classification and naming for many genetic disorders reflects history, because most diseases were first observed and classified based on biochemistry and pathophysiology before genetic diagnosis was available. However, the three GM2 gangliosidoses were discovered and named separately. Each represents a distinct molecular point of failure in a subunit that is required for activation of the enzyme. (en) GM2-ганглиозидо́з — тяжёлое наследственное заболевание, развивающееся в результате дефицита или недостаточной активности фермента и накопления в клетках ганглиозидов. Относится к лизосомным болезням накопления и имеет три варианта, связанные с мутациями в разных генах, которые оказывают вляние на активность общей гексозаминидазы. Два варианта заболевания больше известны под индивидуальными именами, полученными в честь авторов, впервые описавших их клиническую картину: болезнь Тея — Сакса, болезнь Сандхоффа. Третий вариант этой болезни носит название GM2 ганглиозидоз, вариант АБ. Болезнь Тея — Сакса вызвана мутацией в гене HEXA, кодирующий альфа-субъединицу гексоаминидазы А. Болезнь Сандхоффа вызвана мутацией в гене HEXB, кодирующий бета-субъединицу гексоаминидаз А и Б. GM2 ганглиозидоз, АБ вариант связан с нарушением в гене GM2, кодирующий белок-активатор GM2A. (ru) |
| dbo:diseasesDB | 12916 |
| dbo:geneReviewsId | NBK1218 |
| dbo:geneReviewsName | Hexosaminidase A Deficiency (en) |
| dbo:icd10 | E75.0 |
| dbo:icd9 | 330.1 |
| dbo:meshId | D020143 |
| dbo:omim | 272800 (xsd:integer) |
| dbo:wikiPageExternalLink | https://www.ncbi.nlm.nih.gov/books/NBK1218/ |
| dbo:wikiPageID | 5788187 (xsd:integer) |
| dbo:wikiPageLength | 11973 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID | 1100424404 (xsd:integer) |
| dbo:wikiPageWikiLink | dbr:Sandhoff_disease dbr:Enzyme_assay dbr:Pathophysiology dbr:Priority_review dbr:Biochemistry dbr:Restless_legs_syndrome dbr:Gastroenterology dbr:Nutrition dbr:Enzyme dbr:GM2_(ganglioside) dbr:Multiple_sclerosis dbc:Autosomal_recessive_disorders dbr:Lewy_body_dementia dbr:Lysosomes dbr:Gangliosides dbr:Metabolic_pathway dbr:Pulmonology dbc:Ashkenazi_Jews_topics dbr:GM2-gangliosidosis,_AB_variant dbr:Acetylleucine dbr:Amyotrophic_lateral_sclerosis dbr:European_Medicines_Agency dbr:Niemann–Pick_disease,_type_C dbr:Psychiatrist dbc:Rare_diseases dbr:Tay–Sachs_disease dbr:Ataxia–telangiectasia dbc:Lipid_storage_disorders dbr:Biodegradation dbr:Cofactor_(biochemistry) dbr:Physical_therapy dbr:Migraine dbr:Occupational_therapy dbr:Orthopedics dbr:Neurology dbr:U.S._Food_&_Drug_Administration dbr:Beta-hexosaminidase |
| dbp:diseasesdb | 12916 (xsd:integer) |
| dbp:genereviewsname | Hexosaminidase A Deficiency (en) |
| dbp:genereviewsnbk | NBK1218 (en) |
| dbp:icd | 330.100000 (xsd:double) (en) E75.0 (en) |
| dbp:meshid | D020143 (en) |
| dbp:omim | 272800 (xsd:integer) |
| dbp:omimMult | , (en) |
| dbp:wikiPageUsesTemplate | dbt:Cn dbt:Infobox_medical_condition_(new) dbt:Main dbt:Medical_resources dbt:Reflist dbt:OMIM dbt:Lipid_storage_disorders |
| dbp:wordnet_type | http://www.w3.org/2006/03/wn/wn20/instances/synset-disease-noun-1 |
| dct:subject | dbc:Autosomal_recessive_disorders dbc:Ashkenazi_Jews_topics dbc:Rare_diseases dbc:Lipid_storage_disorders |
| gold:hypernym | dbr:Group |
| rdf:type | owl:Thing wikidata:Q12136 yago:WikicatAshkenaziJewsTopics yago:WikicatAutosomalRecessiveDisorders yago:WikicatLipidStorageDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:Communication100033020 yago:Condition113920835 yago:Disease114070360 yago:Disorder114052403 yago:IllHealth114052046 yago:Illness114061805 yago:Message106598915 yago:PathologicalState114051917 yago:PhysicalCondition114034177 dbo:Band dbo:Disease yago:State100024720 yago:Subject106599788 umbel-rc:AilmentCondition |
| rdfs:comment | The GM2 gangliosidoses are a group of three related genetic disorders that result from a deficiency of the enzyme beta-hexosaminidase. This enzyme catalyzes the biodegradation of fatty acid derivatives known as gangliosides. The diseases are better known by their individual names: Tay–Sachs disease, AB variant, and Sandhoff disease. (en) GM2-ганглиозидо́з — тяжёлое наследственное заболевание, развивающееся в результате дефицита или недостаточной активности фермента и накопления в клетках ганглиозидов. Относится к лизосомным болезням накопления и имеет три варианта, связанные с мутациями в разных генах, которые оказывают вляние на активность общей гексозаминидазы. Два варианта заболевания больше известны под индивидуальными именами, полученными в честь авторов, впервые описавших их клиническую картину: болезнь Тея — Сакса, болезнь Сандхоффа. Третий вариант этой болезни носит название GM2 ганглиозидоз, вариант АБ. Болезнь Тея — Сакса вызвана мутацией в гене HEXA, кодирующий альфа-субъединицу гексоаминидазы А. Болезнь Сандхоффа вызвана мутацией в гене HEXB, кодирующий бета-субъединицу гексоаминидаз А и Б. GM2 ганглиозидоз, А (ru) |
| rdfs:label | GM2 gangliosidoses (en) GM2-ганглиозидоз (ru) |
| owl:sameAs | freebase:GM2 gangliosidoses yago-res:GM2 gangliosidoses wikidata:GM2 gangliosidoses dbpedia-fa:GM2 gangliosidoses dbpedia-ru:GM2 gangliosidoses dbpedia-sr:GM2 gangliosidoses https://global.dbpedia.org/id/4jtHR |
| prov:wasDerivedFrom | wikipedia-en:GM2_gangliosidoses?oldid=1100424404&ns=0 |
| foaf:isPrimaryTopicOf | wikipedia-en:GM2_gangliosidoses |
| is dbo:wikiPageRedirects of | dbr:Gangliosidoses_GM2 dbr:Gangliosidoses_gm2 dbr:Gangliosidosis_(Type2)(GM2) dbr:Gangliosidosis_GM1 dbr:Gangliosidosis_gm1 dbr:GM2_Gangliosidosis dbr:GM2_gangliosidosis dbr:Gm2_gangliosidoses |
| is dbo:wikiPageWikiLink of | dbr:Roivant_Sciences dbr:Sphingolipidoses dbr:Cherry-red_spot dbr:GM2_(ganglioside) dbr:GM2-gangliosidosis,_AB_variant dbr:GM2A dbr:Gangliosidosis dbr:Lipid_storage_disorder dbr:Acetylleucine dbr:History_of_Tay–Sachs_disease dbr:Tay–Sachs_disease dbr:Ataxia–telangiectasia dbr:Spinocerebellar_ataxia dbr:Gangliosidoses_GM2 dbr:Gangliosidoses_gm2 dbr:Gangliosidosis_(Type2)(GM2) dbr:Gangliosidosis_GM1 dbr:Gangliosidosis_gm1 dbr:GM2_Gangliosidosis dbr:GM2_gangliosidosis dbr:Gm2_gangliosidoses |
| is foaf:primaryTopic of | wikipedia-en:GM2_gangliosidoses |