{"orpha":83454,"name":"Glomuvenous malformation","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Glomangiomatosis","Hereditary multiple glomangiomas","Multiple glomus tumors","VMGLOM","Venous malformations with glomus cells"],"definition":"A rare vascular anomaly or angioma characterized by the presence of small, multifocal bluish-purple venous lesions mainly involving the skin.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-83454/","orphanet_url":"https://www.orpha.net/en/disease/detail/83454","names":{"fr":{"name":"Malformation glomuveineuse","synonyms":["Glomangioma multiples héréditaires","Glomangiomatose","Malformation veineuse avec cellule glomique","Tumeurs glomiques multiples"],"definition":"Anomalie vasculaire ou angiome rare caractérisés par la présence de petites lésions veineuses multifocales bleu-pourpre affectant principalement la peau."},"de":{"name":"Glomuvenöse Malformation","synonyms":["Glomangiomatose","Glomangiome, hereditäre multiple","Glomustumoren, multiple","Venöse Malformationen mit Glomuszellen (VMGLOM)"],"definition":"Eine seltene vaskuläre Anomalie oder ein Angiom, das durch das Vorhandensein kleiner, multifokaler bläulich-violetter venöser Läsionen gekennzeichnet ist, die hauptsächlich die Haut betreffen."},"es":{"name":"Malformación glomuvenosa","synonyms":["Células glómicas con malformaciones venosas","Glomangiomas múltiples hereditarios","Glomangiomatosis","Tumores glómicos múltiples","VMGLOM"],"definition":"Es una anomalía vascular o angioma poco frecuente caracterizado por la presencia de pequeñas lesiones venosas multifocales de color azulado-púrpura que afectan principalmente a la piel."},"it":{"name":"Malformazione glomovenosa","synonyms":["Glomangiomatosi","Glomangiomi multipli ereditari","Malformazioni venose con cellule glomiche","Tumori glomici multipli","VMGLOM"],"definition":"Si tratta di un'anomalia vascolare o di un angioma raro, caratterizzato dalla presenza di piccole lesioni venose blu-violacee multifocali che interessano prevalentemente la cute."},"nl":{"name":"Glomuveneuze malformatie","synonyms":["Erfelijke meervoudige glomangiomen","Glomangiomatose","Meervoudige glomustumoren","VMGLOM","Veneuze malformaties met glomuscellen"],"definition":"Een zeldzame vasculaire anomalie of angioom, gekarakteriseerd door aanwezigheid van kleine, multifocale blauw-paarse veneuze laesies die voornamelijk huid aantasten."},"pt":{"name":"Malformações glomuvenosas"},"pl":{"name":"Malformacja splotowo-żylna","synonyms":["Dziedziczne mnogie kłębczaki","Kłębczakowatość","Malformacje żylne z komórkami kłębkowymi","Mnogie guzy kłębkowe","VMGLOM"]},"cs":{"name":"Glomuvenózní malformace","synonyms":["Glomangiomatóza","VMGLOM","Hereditární mnohočetné glomangiomy","Mnohočetné glomus tumory","Venózní malformace s glomus buňkami"]},"uk":{"name":"Гломувенозна мальформація","synonyms":["Гломангіоматоз","Спадкові множинні гломангіоми","Множинні пухлини гломуса","Венозні вади розвитку з клітинами гломусу","VMGLOM"],"definition":"A rare vascular anomaly or angioma characterized by the presence of small, multifocal bluish-purple venous lesions mainly involving the skin."},"zh":{"name":"静脉血管球畸形","synonyms":["静脉畸形伴血管球细胞"]},"tr":{"name":"Glomüvenöz malformasyon","synonyms":["VMGLOM","Glomanjiyomatoz","Çoklu glomus tümörleri","Kalıtsal çoklu glomanjiyomlar","Glomus hücreli venöz malformasyonlar"]}},"xrefs":[{"source":"OMIM","code":"138000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q27.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LC51","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2095305475"},{"source":"MONDO","code":"0007672","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536827","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1841984","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":715339,"name":"Multifocal peripheral venous malformation","classifications":[147,198]},{"orpha":102006,"name":"Neurovascular malformation","classifications":[181]},{"orpha":459548,"name":"Rare genetic venous malformation","classifications":[156]},{"orpha":715334,"name":"Unifocal peripheral venous malformation","classifications":[147,198]}],"children":[],"genes":[{"symbol":"GLMN","name":"glomulin, FKBP associated protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11845407[PMID]_22092580[PMID]","hgnc":"14373","ensembl":"ENSG00000174842","omim":"601749","loci":["1p22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-30","source":"16298253[PMID]_25614464[PMID]_25382523[PMID]_28163461[PMID]","terms":[{"hpo":"HP:0100026","label":"Arteriovenous malformation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012721","label":"Venous malformation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011297","label":"Abnormal digit morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200036","label":"Skin nodule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002814","label":"Abnormality of the lower limb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002817","label":"Abnormality of the upper limb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011354","label":"Generalized abnormality of skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011355","label":"Localized skin lesion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200035","label":"Skin plaque","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045026","label":"Abnormal mediastinum morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012210","label":"Abnormal renal morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002778","label":"Abnormal trachea morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010640","label":"Abnormality of the nasal cavity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002629","label":"Gastrointestinal arteriovenous malformation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031445","label":"Oral mucosa nodule","frequency":"Very rare (<4-1%)","criteria":null}]}}