{"orpha":210122,"name":"Congenital alveolar capillary dysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ACDMPV","Alveolar capillary dysplasia with misalignment of pulmonary veins","Alveolar capillary dysplasia with misalignment of pulmonary vessels"],"definition":"Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-210122/","orphanet_url":"https://www.orpha.net/en/disease/detail/210122","names":{"fr":{"name":"Dysplasie alvéolo-capillaire congénitale","synonyms":["ACDMPV","Dysplasie alvéolo-capillaire avec défaut d'alignement des vaisseaux pulmonaires"],"definition":"La dysplasie alvéolo-capillaire (ACD) congénitale est un trouble du développement pulmonaire rare et fatal, caractérisé par une détresse respiratoire chez le nouveau-né, due à une hypoxémie réfractaire, s'associant à une hypertension artérielle pulmonaire sévère."},"de":{"name":"Dysplasie, alveolar-kapilläre, kongenitale","synonyms":["ACDMPV","Alveoläre kapilläre Dysplasie mit Fehlausrichtung der pulmonalen Gefäße","Alveoläre kapilläre Dysplasie mit Misalignment der Lungenvenen"]},"es":{"name":"Displasia capilar alveolar congénita","synonyms":["ACDMPV","Displasia alveolo-capilar con mal alineamiento de las vasos pulmonares","Displasia alveolo-capilar con mal alineamiento de las venas pulmonares"],"definition":"Es una enfermedad del desarrollo pulmonar poco frecuente y fatal caracterizada por distrés respiratorio en neonatos debido a la hipoxemia refractaria e hipertensión arterial pulmonar grave."},"it":{"name":"Displasia alveolo-capillare congenita","synonyms":["ACDMPV","Displasia alveolo-capillare con difetto di allineamento dei vasi polmonari","Displasia alveolo-capillare con difetto di allineamento delle vene polmonari"],"definition":"La displasia alveolo-capillare congenita (ACD) è una malattia rara e letale dello sviluppo dei polmoni, caratterizzata da distress respiratorio nei neonati, secondario all'ipossiemia refrattaria e una grave ipertensione arteriosa polmonare."},"nl":{"name":"Congenitale alveolaire capillaire dysplasie","synonyms":["ACDMPV","Alveolaire capillaire dysplasie met verkeerde uitlijning van de longaders","Alveolaire capillaire dysplasie met verkeerde uitlijning van de longvaten"],"definition":"Congenitale alveolaire capillaire dysplasie (ACD) is een zeldzame en fatale ontwikkelingsstoornis van de long die gekarakteriseerd wordt door ademnood bij neonaten als gevolg van refractaire hypoxemie en ernstige pulmonale arteriële hypertensie."},"pt":{"name":"Displasia congénita dos capilares alveolares"},"pl":{"name":"Wrodzona dysplazja naczyń pęcherzyków płucnych","synonyms":["ACDMPV","Dysplazja naczyniowa pęcherzyków płucnych z przesunięciem naczyń płucnych","Dysplazja naczyniowa pęcherzyków płucnych z przesunięciem żył płucnych"]},"cs":{"name":"Vrozená alveolární kapilární dysplázie","synonyms":["ACDMPV","Alveolární kapilární dysplázie s vychýlením plicních žil","Alveolární kapilární dysplázie s vychýlením plicních cév","Alveolární kapilární dysplázie - familiární výskyt"]},"uk":{"name":"Вроджена альвеолярно-капілярна дисплазія","synonyms":["ACDMPV","Альвеолярно-капілярна дисплазія з викривленням легеневих вен","Альвеолярно-капілярна дисплазія з викривленням легеневих судин"],"definition":"Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension."},"zh":{"name":"先天性肺泡毛细血管发育不良","synonyms":["肺泡毛细血管发育不良伴肺血管错位"],"definition":"先天性肺泡毛细血管发育异常（ACD）是一种罕见的致命性肺部发育异常疾病，其主要临床表现为由难治性低氧血症和严重肺动脉高压所致的新生儿呼吸窘迫。"},"tr":{"name":"Doğumsal alveolar kapiller displazi","synonyms":["ACDMPV","Pulmoner venlerin yanlış hizalanması ile seyreden alveolar kapiller displazi","Pulmoner damarların yanlış hizalanması ile seyreden alveolar kılcal displazi"]}},"xrefs":[{"source":"OMIM","code":"265380","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q33.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"CB04.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1646429023"},{"source":"MONDO","code":"0009934","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536590","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2677362","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8644","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10077023","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":264992,"name":"Genetic interstitial lung disease","classifications":[156]},{"orpha":264683,"name":"Primary interstitial lung disease specific to childhood due to alveolar vascular disorder","classifications":[184,233]}],"children":[],"genes":[{"symbol":"FOXF1","name":"forkhead box F1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19500772[PMID]_23505205[PMID]","hgnc":"3809","ensembl":"ENSG00000103241","omim":"601089","loci":["16q24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.2,"area":"Canada","status":"Validated","source":"10735455[PMID]_9369882[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"10735455[PMID]"},{"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:0002092","label":"Pulmonary arterial hypertension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004383","label":"Hypoplastic left heart","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011467","label":"Absent gallbladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001734","label":"Annular pancreas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001746","label":"Asplenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006695","label":"Atrioventricular canal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100867","label":"Duodenal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010882","label":"Pulmonary valve atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001195","label":"Single umbilical artery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002580","label":"Volvulus","frequency":"Occasional (29-5%)","criteria":null}]}}