{"orpha":1556,"name":"Cutis marmorata telangiectatica congenita","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CMTC"],"definition":"Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1556/","orphanet_url":"https://www.orpha.net/en/disease/detail/1556","names":{"fr":{"name":"Cutis marmorata telangiectatica congenita","synonyms":["CMTC"],"definition":"Le cutis marmorata telangiectatica congenita (CMTC) est une maladie vasculaire congénitale localisée ou généralisée caractérisée par une forme persistante de cutis marmorata avec une apparence marbrée bleutée à violet foncé, une télangiectasie de type angiome stellaire, des ectasies veineuses et, occasionnellement, une ulcération et une atrophie de la peau atteinte."},"de":{"name":"Cutis marmorata teleangiectatica congenita","synonyms":["CMTC"],"definition":"Die Cutis marmorata teleangiectatica congenita (CMTC) ist eine kongenitale lokalisierte oder generalisierte Gefäßanomalie und gekennzeichnet durch dauerhaft bläulich oder tief-purpurn marmorierte Haut, Spinnennävus-Teleangiektasien, Phlebektasie und gelegentlich durch Ulzeration und Atrophie der betroffenen Haut."},"es":{"name":"Cutis marmorata telangiectásica congénita","synonyms":["CMTC"],"definition":"La cutis marmorata telangiectasia congénita (CMTC) es una anomalía vascular congénita localizada o generalizada, que se caracteriza por un patrón de cutis marmorata, con una coloración que varia del azul al morado oscuro, telangiectasia tipo araña vascular, flebectasia y ocasionalmente, ulceración y atrofia de la piel afectada."},"it":{"name":"Cutis marmorata telangectasica congenita","synonyms":["CMTC"]},"nl":{"name":"Cutis marmorata telangiectatica congenita","synonyms":["CMTC"],"definition":"Een congenitale, gelokaliseerde of gegeneraliseerde vasculaire anomalie, gekarakteriseerd door persisterende cutis marmorata (marmerhuid) met een blauwig tot donkerpaars, gemarmerd uiterlijk, spinnaevus-achtige teleangiëctasie, flebectasie (spatader) en, occasioneel, ulceratie en atrofie van de getroffen huid."},"pt":{"name":"Cutis marmorata telagiectásica congénita","definition":"A cutis marmorata telangiectatica congénita (CMTC) é uma anomalia vascular congénita, localizada ou generalizada, caracterizada por um padrão persistente de cutis marmorata com aspeto marmoreado azulado a roxo escuro, telangiectasias nevo-<i>like<i/> aracniformes, varizes e, ocasionalmente, ulceração e atrofia da pele afetada."},"pl":{"name":"Wrodzona teleangiektatyczna skóra marmurkowa","synonyms":["CMTC"]},"cs":{"name":"Cutis marmorata teleangiectatica congenita, van Lohuizenův syndrom","synonyms":["CMTC"]},"uk":{"name":"Вроджена телеангіектатична мармуровість шкіри (Cutis marmorata telangiectatica congenita)","synonyms":["CMTC"],"definition":"Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin."},"zh":{"name":"先天性毛细血管扩张性大理石样皮肤","synonyms":["CMTC"]},"tr":{"name":"Cutis marmorata telenjektatika konjenita","synonyms":["CMTC"]}},"xrefs":[{"source":"OMIM","code":"219250","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LC52","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1359154853"},{"source":"MONDO","code":"0009055","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536226","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0345419","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6228","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":211247,"name":"Rare capillary malformation","classifications":[147,198]},{"orpha":79379,"name":"Skin vascular disease","classifications":[187]}],"children":[],"genes":[{"symbol":"ARL6IP6","name":"ARF like GTPase 6 interacting protein 6","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"25957586[PMID]","hgnc":"24048","ensembl":"ENSG00000177917","omim":"616495","loci":["2q23.3"]},{"symbol":"GNA11","name":"G protein subunit alpha 11","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"35351629[PMID]","hgnc":"4379","ensembl":"ENSG00000088256","omim":"139313","loci":["19p13.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":300.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002814","label":"Abnormality of the lower limb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000951","label":"Abnormality of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002817","label":"Abnormality of the upper limb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100026","label":"Arteriovenous malformation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000965","label":"Cutis marmorata","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006385","label":"Short lower limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200041","label":"Skin erosion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001933","label":"Subcutaneous hemorrhage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000555","label":"Leukocoria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100545","label":"Arterial stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100555","label":"Asymmetric growth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100814","label":"Blue nevus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005306","label":"Capillary hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100627","label":"Displacement of the urethral meatus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007565","label":"Multiple cafe-au-lait spots","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000979","label":"Purpura","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null}]}}