{"orpha":774,"name":"Hereditary hemorrhagic telangiectasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HHT","Rendu-Osler disease","Rendu-Osler-Weber disease"],"definition":"An inherited disorder of angiogenesis characterized by mucocutaneous telangiectases and visceral arteriovenous malformations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-774/","orphanet_url":"https://www.orpha.net/en/disease/detail/774","names":{"fr":{"name":"Télangiectasie hémorragique héréditaire","synonyms":["HHT","Maladie de Rendu-Osler","Maladie de Rendu-Osler-Weber"],"definition":"Dérégulation héréditaire de l'angiogenèse caractérisée par des télangiectasies cutanéo-muqueuses et des malformations artérioveineuses viscérales."},"de":{"name":"Hereditäre hämorrhagische Teleangiektasie","synonyms":["HHT","Morbus Osler","Osler-Rendu-Weber-Syndrom","Rendu-Osler-Weber-Krankheit"],"definition":"Eine vererbte Störung der Angiogenese, gekennzeichnet durch mukokutane Teleangiektasien und viszerale arteriovenöse Fehlbildungen."},"es":{"name":"Telangiectasia hemorrágica hereditaria","synonyms":["Enfermedad de Rendu-Osler","Enfermedad de Rendu-Osler-Weber","HHT"],"definition":"Es un trastorno hereditario que afecta a la angiogénesis, caracterizado por telangiectasias mucocutáneas y malformaciones arteriovenosas viscerales."},"it":{"name":"Telangectasia emorragica ereditaria","synonyms":["HHT","Malattia di Rendu-Osler","Malattia di Rendu-Osler-Weber"],"definition":"E' una malattia ereditaria dell'angiogenesi, caratterizzata da telangectasie muco-cutanee e malformazioni arterovenose viscerali."},"nl":{"name":"Erfelijke hemorragische teleangiëctasie","synonyms":["HHT","Ziekte van Rendu-Osler","Ziekte van Rendu-Osler-Weber"],"definition":"Een erfelijke stoornis van de angiogenese die gekarakteriseerd wordt door mucocutane teleangiëctasieën en viscerale arterioveneuze malformaties."},"pt":{"name":"Telangiectasia hemorrágica hereditária","synonyms":["Doença de Rendu-Osler-Weber"]},"pl":{"name":"Dziedziczna krwotoczna telangiektazja","synonyms":["Choroba Rendu i Oslera","Choroba Rendu, Oslera i Webera","HHT"],"definition":"Dziedziczne zaburzenie angiogenezy charakteryzujące się występowaniem teleangiektaz śluzówkowo-skórnych oraz trzewnych malformacji tętniczo-żylnych."},"cs":{"name":"Hereditární hemoragická teleangiektázie","synonyms":["HHT","Renduova-Oslerova nemoc","Oslerova-Renduova-Weberova nemoc","Angiodysplastický syndrom, typ III","Rendu-Oslerova nemoc","Osler-Rendu-Weberova nemoc"]},"uk":{"name":"Спадкова геморагічна телеангіектазія","synonyms":["HHT","Хвороба Рендю-Ослера","Хвороба Рендю-Ослера-Вебера"],"definition":"An inherited disorder of angiogenesis characterized by mucocutaneous telangiectases and visceral arteriovenous malformations."},"zh":{"name":"遗传性出血性毛细血管扩张症","synonyms":["Rendu-Osler-Weber病"]},"tr":{"name":"Kalıtsal hemorajik telenjiektazi","synonyms":["HHT","Rendu-Osler hastalığı","Rendu-Osler-Weber hastalığı"]}},"xrefs":[{"source":"OMIM","code":"175050","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"187300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600376","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610655","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615506","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I78.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA90.00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"714406192"},{"source":"MONDO","code":"0019180","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D013683","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0039445","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6626","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10019883","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":371436,"name":"Genetic neurovascular malformation","classifications":[156]},{"orpha":183622,"name":"Genetic respiratory malformation","classifications":[156]},{"orpha":183478,"name":"Genetic skin vascular disorder","classifications":[156]},{"orpha":98196,"name":"Malformation syndrome with hamartosis","classifications":[147,156]},{"orpha":719955,"name":"Multifocal fast-flow vascular malformation","classifications":[147,198]},{"orpha":102006,"name":"Neurovascular malformation","classifications":[181]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]},{"orpha":98610,"name":"Rare disorder with conjunctival involvement as a major feature","classifications":[189]},{"orpha":459526,"name":"Rare genetic capillary malformation","classifications":[156]},{"orpha":182222,"name":"Rare systemic disease","classifications":[196]},{"orpha":101938,"name":"Rare vascular liver disease","classifications":[183]},{"orpha":182111,"name":"Respiratory malformation","classifications":[184]},{"orpha":79379,"name":"Skin vascular disease","classifications":[187]}],"children":[],"genes":[{"symbol":"ACVRL1","name":"activin A receptor like type 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301525[PMID]","hgnc":"175","ensembl":"ENSG00000139567","omim":"601284","loci":["12q13.13"]},{"symbol":"ENG","name":"endoglin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301525[PMID]","hgnc":"3349","ensembl":"ENSG00000106991","omim":"131195","loci":["9q34.11"]},{"symbol":"GDF2","name":"growth differentiation factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23972370[PMID]","hgnc":"4217","ensembl":"ENSG00000263761","omim":"605120","loci":["10q11.22"]},{"symbol":"SMAD4","name":"SMAD family member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301525[PMID]","hgnc":"6770","ensembl":"ENSG00000141646","omim":"600993","loci":["18q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":16.0,"area":"Europe","status":"Validated","source":"30111344[PMID]_[EXPERT]_European Medicines Agency 2018[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":43.5,"area":"France","status":"Validated","source":"12157905[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"United Kingdom","status":"Validated","source":"1518020[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":15.6,"area":"Denmark","status":"Validated","source":"10095814[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":16.25,"area":"Japan","status":"Validated","source":"11793473[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.1,"area":"United States","status":"Validated","source":"7802026[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":19.4,"area":"Specific population","status":"Validated","source":"8242961[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-10-26","source":"20301525[PMID]_36079173[PMID]_35792874[PMID]","terms":[{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000214","label":"Lip telangiectasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100579","label":"Mucosal telangiectasiae","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000434","label":"Nasal mucosa telangiectasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004406","label":"Spontaneous, recurrent epistaxis","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001009","label":"Telangiectasia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000227","label":"Tongue telangiectasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011025","label":"Abnormality of cardiovascular system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100026","label":"Arteriovenous malformation","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0006574","label":"Hepatic arteriovenous malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001409","label":"Portal hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006548","label":"Pulmonary arteriovenous malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100761","label":"Visceral angiomatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100659","label":"Abnormality of the cerebral vasculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002408","label":"Cerebral arteriovenous malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001342","label":"Cerebral hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000524","label":"Conjunctival telangiectasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002040","label":"Esophageal varix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002629","label":"Gastrointestinal arteriovenous malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200008","label":"Intestinal polyposis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100784","label":"Peripheral arteriovenous fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002204","label":"Pulmonary embolism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007763","label":"Retinal telangiectasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002138","label":"Subarachnoid hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002326","label":"Transient ischemic attack","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Occasional (29-5%)","criteria":null}]}}