{"orpha":714737,"name":"Diffuse capillary malformation with overgrowth","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["DCMO"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-714737/","orphanet_url":"https://www.orpha.net/en/disease/detail/714737","names":{"fr":{"name":"Malformation capillaire diffuse avec prolifération","synonyms":["DCMO"]},"de":{"name":"Diffuse kapilläre Fehlbildung mit Überwuchs","synonyms":["DCMO","Diffuse kapilläre Malformationen mit Überwuchs"]},"es":{"name":"Malformación capilar difusa con sobrecrecimiento","synonyms":["DCMO"]},"it":{"name":"Malformazione capillare diffusa con iperaccrescimento","synonyms":["DCMO"]},"nl":{"name":"Diffuse capillaire malformatie met overgroei","synonyms":["DCMO"]},"pt":{"name":"Diffuse capillary malformation with overgrowth"},"pl":{"name":"Rozlane malformacje włośniczkowe z przerostem","synonyms":["DCMO"]},"cs":{"name":"Diffuse capillary malformation with overgrowth","synonyms":["DCMO"]}},"xrefs":[{"source":"ICD-10","code":"Q87.3","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93460,"name":"Overgrowth syndrome","classifications":[147,156]},{"orpha":728584,"name":"PIK3CA-related overgrowth spectrum disorder with vascular malformation","classifications":[147,198]},{"orpha":715453,"name":"Reticulated capillary malformation","classifications":[147,198]},{"orpha":723264,"name":"Syndromic port-wine capillary malformation","classifications":[147,198]}],"children":[],"genes":[{"symbol":"GNA11","name":"G protein subunit alpha 11","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"28120216[PMID]","hgnc":"4379","ensembl":"ENSG00000088256","omim":"139313","loci":["19p13.3"]},{"symbol":"PIK3CA","name":"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"31909475[PMID]","hgnc":"8975","ensembl":"ENSG00000121879","omim":"171834","loci":["3q26.32"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":73.0,"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":null}