{"orpha":199241,"name":"Pulmonary capillary hemangiomatosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis","url":"https://raremap.alftech.space/d/ORPHA-199241/","orphanet_url":"https://www.orpha.net/en/disease/detail/199241","names":{"fr":{"name":"Hémangiomatose capillaire pulmonaire"},"de":{"name":"Hämangiomatose, kapilläre pulmonale"},"es":{"name":"Hemangiomatosis capilar pulmonar"},"it":{"name":"Emangiomatosi capillare polmonare"},"nl":{"name":"Pulmonale capillaire hemangiomatose"},"pt":{"name":"Hemangiomatose pulmonar capilar"},"pl":{"name":"Hemangiomatoza kapilarna płucna"},"cs":{"name":"Plicní kapilární hemangiomatóza"},"uk":{"name":"Легеневий капілярний гемангіоматоз"},"zh":{"name":"肺毛细血管瘤"},"tr":{"name":"Pulmoner kapiller hemanjiyomatoz"}},"xrefs":[{"source":"OMIM","code":"234810","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D18.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BB01.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1507320051"},{"source":"MONDO","code":"0009329","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"9329","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535861","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0340548","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10077389","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":431353,"name":"Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis","classifications":[156,184]}],"children":[],"genes":[{"symbol":"EIF2AK4","name":"eukaryotic translation initiation factor 2 alpha kinase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24135949[PMID]","hgnc":"19687","ensembl":"ENSG00000128829","omim":"609280","loci":["15q15.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"24493495[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24493495[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-17","source":"31501875[PMID]_27514598[PMID]_24292273[PMID]","terms":[{"hpo":"HP:0025104","label":"Capillary malformation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045051","label":"Decreased DLCO","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025179","label":"Ground-glass opacification on pulmonary HRCT","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030879","label":"Interlobular septal thickening on pulmonary HRCT","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005954","label":"Pulmonary capillary hemangiomatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030968","label":"Abnormal pulmonary vein morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025180","label":"Centrilobular ground-glass opacification on pulmonary HRCT","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100759","label":"Clubbing of fingers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025420","label":"Diffuse alveolar hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004890","label":"Elevated pulmonary artery pressure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012151","label":"Hemothorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012418","label":"Hypoxemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100721","label":"Mediastinal lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001708","label":"Right ventricular failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100598","label":"Pulmonary edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001698","label":"Pericardial effusion","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003493","label":"Antinuclear antibody positivity","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0032230","label":"Cytoplasmic antineutrophil antibody positivity","frequency":"Excluded (0%)","criteria":null}]}}