{"orpha":180188,"name":"Isolated congenital breast hypoplasia/aplasia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated congenital amastia"],"definition":"A rare breast malformation characterized by congenital absence of breast and nipple (amastia), or nipple or mammary gland (athelia or amazia, respectively). It can be unilateral or bilateral and may occur as an isolated malformation or be associated with a syndrome or cluster of other anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-180188/","orphanet_url":"https://www.orpha.net/en/disease/detail/180188","names":{"fr":{"name":"Hypoplasie/aplasie mammaire congénitale isolée","synonyms":["Amastie congénitale isolée"],"definition":"Malformation mammaire rare caractérisée par l'absence congénitale des seins et des mamelons (amastie), des mamelons ou des glandes mammaires (athélie ou amasie, respectivement). Elle peut être unilatérale ou bilatérale, isolée ou associée à un syndrome ou à un groupe d'anomalies."},"de":{"name":"Mammaaplasie/-hypoplasie, isolierte kongenitale","synonyms":["Amastie, isolierte kongenitale"],"definition":"Eine seltene Fehlbildung der Brust, die durch das angeborene Fehlen von Brust und Brustwarze (Amastie) oder von Brustwarze oder Brustdrüse (Athelie bzw. Amazie) gekennzeichnet ist. Sie kann ein- oder beidseitig sein und als isolierte Fehlbildung auftreten oder mit einem Syndrom oder einer Gruppe anderer Anomalien verbunden sein."},"es":{"name":"Aplasia/hipoplasia mamaria congénita aislada","synonyms":["Amastia congénita aislada"],"definition":"Es una malformación mamaria poco frecuente caracterizada por la ausencia congénita de la mama y del pezón (amastia), únicamente del pezón, o de la glándula mamaria (atelia o amazia, respectivamente). Puede ser uni- o bilateral, presentándose como una malformación aislada o asociada a un síndrome o a un conjunto de otras anomalías."},"it":{"name":"Ipoplasia/aplasia mammaria congenita isolata","synonyms":["Amastia congenita isolata"],"definition":"Si tratta di una malformazione rara delle mammelle, caratterizzata dall'aplasia congenita delle mammelle e dei capezzoli (amastia), o dei capezzoli, o delle ghiandole mammarie (rispettivamente, atelia e amazia). Può essere monolaterale o bilaterale; può essere isolata oppure associarsi a una sindrome o ad altre anomalie."},"nl":{"name":"Geïsoleerde congenitale borsthypoplasie/aplasie","synonyms":["Geïsoleerde congenitale amastie"],"definition":"Een zeldzame malformatie van borst, gekarakteriseerd door congenitale afwezigheid van borst en tepel (amastie), of van tepel of borstklier (respectievelijk athelie of amazie). Het kan unilateraal of bilateraal zijn, en voorkomen als een geïsoleerde malformatie of geassocieerd zijn met een syndroom of cluster van andere anomalieën."},"pt":{"name":"Aplasia mamária"},"pl":{"name":"Izolowana wrodzona hipoplazja/aplazja piersi","synonyms":["Isolated congenital amastia"]},"cs":{"name":"Izolovaná vrozená hypoplázie/aplázie prsu","synonyms":["Izolovaná vrozená amastie"]},"uk":{"name":"Ізольована вроджена гіпоплазія/аплазія молочної залози","synonyms":["Ізольована вроджена амастія"],"definition":"A rare breast malformation characterized by congenital absence of breast and nipple (amastia), or nipple or mammary gland (athelia or amazia, respectively). It can be unilateral or bilateral and may occur as an isolated malformation or be associated with a syndrome or cluster of other anomalies."},"zh":{"name":"孤立性先天性乳房发育不全/未发育","synonyms":["孤立性先天性无乳房"],"definition":"孤立性先天性乳房发育不全/不发育是一种罕见的乳房畸形，其主要临床表现为先天性无乳房和无乳头（无乳突），或无乳头，或无乳腺，发生于单侧或双侧，或是一个与综合征或其他异常情况有关的孤立性畸形，。"},"tr":{"name":"İzole doğumsal meme hipoplazisi / aplazi","synonyms":["İzole doğumsal amasti"]}},"xrefs":[{"source":"OMIM","code":"113700","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616001","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q83.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB60","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"866434212"},{"source":"MONDO","code":"0015855","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562989","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432357","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9489","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":180173,"name":"Deficient breast volume or number","classifications":[205]},{"orpha":183731,"name":"Rare genetic gynecological and obstetrical diseases","classifications":[156]}],"children":[],"genes":[{"symbol":"PTPRF","name":"protein tyrosine phosphatase receptor type F","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24781087[PMID]","hgnc":"9670","ensembl":"ENSG00000142949","omim":"179590","loci":["1p34.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}