{"orpha":1114,"name":"Aplasia cutis congenita","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. Aplasia cutis congenita (ACC) may occasionally be associated with other anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1114/","orphanet_url":"https://www.orpha.net/en/disease/detail/1114","names":{"fr":{"name":"Aplasia cutis congenita","definition":"Une maladie rare de la peau caractérisée par une absence localisée de peau qui se situe généralement sur le cuir chevelu mais peut se produire n'importe où sur le corps, y compris sur le visage, le tronc et les extrémités. Elle peut parfois être associée à d'autres anomalies."},"de":{"name":"Aplasia cutis congenita","definition":"Eine seltene Hauterkrankung, die durch ein örtlich begrenztes Fehlen der Haut gekennzeichnet ist, das sich in der Regel auf der Kopfhaut befindet, aber überall am Körper auftreten kann, auch im Gesicht, am Rumpf und an den Extremitäten. Aplasia cutis congenita (ACC) kann gelegentlich mit anderen Anomalien verbunden sein."},"es":{"name":"Aplasia cutis congénita","definition":"Es un trastorno cutáneo poco frecuente caracterizado por la ausencia localizada de piel que, por lo general, se localiza en el cuero cabelludo, aunque puede ocurrir en cualquier parte del cuerpo, incluyendo la cara, el tronco y las extremidades. La aplasia cutis congénita (ACC) puede estar asociada ocasionalmente a otras anomalías."},"it":{"name":"Aplasia cutis congenita","synonyms":["ACCV","Aplasia cutis congenita verticis"],"definition":"L'aplasia cutis congenita (ACC) è una malattia cutanea rara, caratterizzata da un'assenza localizzata della cute, in genere sul cuoio capelluto, che può interessare anche altre parti del corpo, come il viso, il tronco e gli arti. Occasionalmente, può associarsi ad altre anomalie."},"nl":{"name":"Aplasia cutis congenita","definition":"Een zeldzame huidaandoening, gekarakteriseerd door lokale afwezigheid van huid, doorgaans op de scalp maar mogelijk eender waar op het lichaam, onder meer gelaat, romp en ledematen. Aplasia cutis congenita (ACC) kan occasioneel geassocieerd zijn met andere anomalieën."},"pt":{"name":"Aplasia cutis congénita"},"pl":{"name":"Wrodzona aplazja skóry"},"cs":{"name":"Aplasia cutis congenita"},"uk":{"name":"Вроджена аплазія шкіри","definition":"A rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. Aplasia cutis congenita (ACC) may occasionally be associated with other anomalies."},"zh":{"name":"先天性皮肤发育不良"},"tr":{"name":"Aplazi kutis konjenita"}},"xrefs":[{"source":"OMIM","code":"107600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600360","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619959","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LC60","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"350175828"},{"source":"MONDO","code":"0007145","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0282160","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5835","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10002963","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1115,"name":"OBSOLETE: Recessive aplasia cutis congenita of limbs","status":"inactive"}],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":98038,"name":"Cranial malformation","classifications":[147]},{"orpha":183542,"name":"Genetic cranial malformation","classifications":[156]},{"orpha":183481,"name":"Genetic mixed dermis disorder","classifications":[156]},{"orpha":79380,"name":"Mixed dermis disorder","classifications":[187]}],"children":[],"genes":[{"symbol":"DLL4","name":"delta like canonical Notch ligand 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26299364[PMID]","hgnc":"2910","ensembl":"ENSG00000128917","omim":"605185","loci":["15q15.1"]},{"symbol":"BMS1","name":"BMS1 ribosome biogenesis factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23785305[PMID]","hgnc":"23505","ensembl":"ENSG00000165733","omim":"611448","loci":["10q11.21"]},{"symbol":"ITGB4","name":"integrin subunit beta 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31184804[PMID]","hgnc":"6158","ensembl":"ENSG00000132470","omim":"147557","loci":["17q25.1"]},{"symbol":"PLEC","name":"plectin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31184804[PMID]","hgnc":"9069","ensembl":"ENSG00000178209","omim":"601282","loci":["8q24.3"]},{"symbol":"UBA2","name":"ubiquitin like modifier activating enzyme 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32758660[PMID]","hgnc":"30661","ensembl":"ENSG00000126261","omim":"613295","loci":["19q13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Worldwide","status":"Validated","source":"12596124[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Worldwide","status":"Validated","source":"5910871[PMID]_12596124[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.69,"area":"Denmark","status":"Validated","source":"25430571[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-09-18","source":"32037608[PMID]_30571024[PMID]_36100287[PMID]","terms":[{"hpo":"HP:0001057","label":"Aplasia cutis congenita","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004471","label":"Aplasia cutis congenita over the scalp vertex","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007383","label":"Congenital localized absence of skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001362","label":"Skull defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010301","label":"Spinal dysraphism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004348","label":"Abnormality of bone mineral density","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003010","label":"Prolonged bleeding time","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:5200061","label":"Tactile hypersensitivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null}]}}