{"orpha":137667,"name":"Capillary malformation-arteriovenous malformation","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["CM-AVM"],"definition":"This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137667/","orphanet_url":"https://www.orpha.net/en/disease/detail/137667","names":{"fr":{"name":"Malformation capillaire-malformation artérioveineuse","synonyms":["CM-AVM"],"definition":"Ce syndrome est caractérisé par l'association de multiples malformations capillaires (MC), d'une malformation artérioveineuse (MAV) et de fistules artérioveineuses."},"de":{"name":"Kapilläre Fehlbildung - arteriovenöse Fehlbildung","synonyms":["CM-AVM"],"definition":"Dieses Syndrom ist gekennzeichnet durch die Assoziation multipler kapillärer Malformationen (CM), einer arteriovenösen Malformation (AVM) und arteriovenöser Fisteln."},"es":{"name":"Malformación capilar-malformación arteriovenosa","synonyms":["MC-MAV"],"definition":"Este síndrome se caracteriza por la asociación de múltiples malformaciones capilares (MC) con malformación arteriovenosa (MAV) y fístulas arteriovenosas."},"it":{"name":"Malformazioni capillari e arterovenose","synonyms":["CM-AVM"]},"nl":{"name":"Capillaire malformatie-arterioveneuze malformatie","synonyms":["CM-AVM"],"definition":"Een syndroom, gekenmerkt door de associatie van multipele capillaire malformaties (CM) met een arterioveneuze malformatie (AVM) en arterioveneuze fistels."},"pt":{"name":"Malformação capilar-malformação arteriovenosa","definition":"Esta síndrome é caracterizada pela associação de múltiplas malformações capilares (CM) com uma malformação arteriovenosa (AVM) e fístulas arteriovenosas."},"pl":{"name":"Malformacja naczyniowa - malformacja tętniczo-żylna","synonyms":["CM-AVM"]},"cs":{"name":"Syndrom zahrnující kapilární a arteriovenózní malformace","synonyms":["CM-AVM"]},"uk":{"name":"Капілярна мальформація - артеріовенозна мальформація","synonyms":["CM-AVM"],"definition":"This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas."},"zh":{"name":"毛细血管畸形-动静脉畸形","synonyms":["CM-AVM"],"definition":"毛细血管畸形-动静脉畸形的特征是多发性毛细血管畸形(CM)与动静脉畸形(AVM)和动静脉瘘的联合。"},"tr":{"name":"Kılcal malformasyon-arteriyovenöz malformasyon","synonyms":["CM-AVM"]}},"xrefs":[{"source":"OMIM","code":"608354","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618196","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q27.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA90.3Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"709093020"},{"source":"MONDO","code":"0012016","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"12016","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564254","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1842180","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11904","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":211240,"name":"Genetic vascular anomaly","classifications":[156]},{"orpha":719955,"name":"Multifocal fast-flow vascular malformation","classifications":[147,198]},{"orpha":536391,"name":"RASopathy","classifications":[156]},{"orpha":506222,"name":"Rare disorder potentially indicated for lung transplant","classifications":[233]},{"orpha":715466,"name":"Syndromic low resistance capillary malformation","classifications":[147,198]}],"children":[{"orpha":693912,"name":"EPHB4-related capillary malformation-arteriovenous malformation","type":"Malformation syndrome"},{"orpha":693907,"name":"RASA1-related capillary malformation-arteriovenous malformation","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":261.0,"area":"Worldwide","status":"Validated","source":"24038909[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-10","source":"21348050[PMID]_31017636[PMID]_29891884[PMID]_28687708[PMID]","terms":[{"hpo":"HP:0025104","label":"Capillary malformation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011276","label":"Vascular skin abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100763","label":"Abnormality of the lymphatic system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009127","label":"Abnormality of the musculature of the limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004947","label":"Arteriovenous fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100026","label":"Arteriovenous malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002408","label":"Cerebral arteriovenous malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002637","label":"Cerebral ischemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001722","label":"High-output congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100784","label":"Peripheral arteriovenous fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001009","label":"Telangiectasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030713","label":"Vein of Galen aneurysmal malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010310","label":"Chylothorax","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000996","label":"Facial capillary hemangioma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001028","label":"Hemangioma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0020073","label":"Hypopigmented macule","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000011","label":"Neurogenic bladder","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001790","label":"Nonimmune hydrops fetalis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}