{"orpha":1063,"name":"Tufted angioma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Nakagawa angioblastoma"],"definition":"A rare vascular tumor characterized by skin lesions with the appearance of poorly delineated red plaques or patches that may be either congenital or acquired (appearing usually in infants and early childhood) with slow angiomatous proliferation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1063/","orphanet_url":"https://www.orpha.net/en/disease/detail/1063","names":{"fr":{"name":"Angiome en touffes","synonyms":["Angioblastome de Nakagawa"],"definition":"Tumeur vasculaire rare caractérisée par des lésions cutanées apparaissant sous la forme de plaques ou de taches rouges mal délimitées, pouvant être congénitales ou acquises (apparaissant généralement chez les nourrissons et dans la petite enfance) avec une lente prolifération angiomateuse."},"de":{"name":"Hämangiom, büschelartiges","synonyms":["Büschel-Angiom","Nakagawa-Angioblastom"],"definition":"Ein seltener vaskulärer Tumor, der durch Hautläsionen in Form von schlecht abgegrenzten roten Plaques oder Flecken gekennzeichnet ist, die entweder angeboren oder erworben sein können (sie treten meist bei Säuglingen und in der frühen Kindheit auf) und eine langsame angiomatöse Proliferation aufweisen."},"es":{"name":"Angioma en penacho","synonyms":["Angioblastoma de Nakagawa"],"definition":"Es un tumor vascular poco frecuente caracterizado por lesiones cutáneas con la apariencia de máculas eritematosas mal delimitadas, que pueden ser congénitas o adquiridas (presentándose habitualmente en la lactancia y en la primera infancia), y que presentan una proliferación angiomatosa de progresión lenta."},"it":{"name":"Angioma a ciuffi","definition":"L'angioma a ciuffi è un tumore vascolare cutaneo molto raro, benigno e a crescita lenta. Esordisce per lo più nel periodo neonatale o nella prima infanzia."},"nl":{"name":"Tufted angioom","synonyms":["Nakagawa-angioblastoom"],"definition":"Een zeldzame vasculaire tumor, gekenmerkt door huidlaesies die verschijnen als slecht afgelijnde rode plaques of vlekken die congenitaal of verworven (meestal in de zuigelingentijd of vroege kindertijd) kunnen zijn, met trage angiomateuze proliferatie."},"pt":{"name":"Angioma cauliforme","synonyms":["Angioblastoma de Nakagawa"]},"pl":{"name":"Tufted angioma","synonyms":["Angioblastoma Nakagawy"],"definition":"Rzadki nowotwór naczyniowy charakteryzujący się zmianami skórnymi w postaci słabo odgraniczonych czerwonych blaszek lub plam, które mogą być wrodzone lub nabyte (występują zwykle u niemowląt i we wczesnym dzieciństwie), z powolną proliferacją naczyniakową."},"cs":{"name":"Klubkovitý angiom","synonyms":["Nagakawa angioblastom"]},"uk":{"name":"Пучкова ангіома","synonyms":["Ангіобластома Накагави"],"definition":"A rare vascular tumour that may be either congenital or acquired (appearing before the age of 5 years) with slow angiomatous proliferation."},"zh":{"name":"丛状血管病","synonyms":["Nakagawa血管母细胞瘤"]},"tr":{"name":"Püsküllü anjiyom","synonyms":["Nakagawa anjiyoblastom"]}},"xrefs":[{"source":"OMIM","code":"607859","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D18.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1994573217"},{"source":"MONDO","code":"0011927","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536924","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0346073","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"425","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98028,"name":"Rare circulatory system disease"},"parents":[{"orpha":673470,"name":"Benign vascular tumor","classifications":[147,198,202]},{"orpha":459543,"name":"Rare genetic vascular tumor","classifications":[156]}],"children":[],"genes":[{"symbol":"GNA14","name":"G protein subunit alpha 14","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"27476652[PMID]","hgnc":"4382","ensembl":"ENSG00000156049","omim":"604397","loci":["9q21.2"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"25365496[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25365496[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-30","source":"25436158[PMID]_29166525[PMID]_30318642[PMID]_12752572[PMID]_26844334[PMID]","terms":[{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011355","label":"Localized skin lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010990","label":"Abnormality of the common coagulation pathway","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000329","label":"Facial hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031490","label":"Hemangioma of the lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000998","label":"Hypertrichosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011900","label":"Hypofibrinogenemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005548","label":"Megakaryocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000967","label":"Petechiae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000979","label":"Purpura","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null}]}}