{"orpha":139466,"name":"SERKAL syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Sex reversion-kidneys, adrenal and lung dysgenesis syndrome"],"definition":"SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139466/","orphanet_url":"https://www.orpha.net/en/disease/detail/139466","names":{"fr":{"name":"Syndrome SERKAL","synonyms":["Syndrome de réversion sexuelle-dysgénesies rénale, surrénalienne et pulmonaire"],"definition":"Le syndrome SERKAL (pour SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) se caractérise par une réversion sexuelle et des anomalies de développement du rein, des glandes surrénales et des poumons."},"de":{"name":"SERKAL-Syndrom","synonyms":["Geschlechtsumkehr - Nieren-, Nebennieren- und Lungendysgenesie"],"definition":"Das SERKAL (<u>se</u>x <u>r</u>eversion, <u>k</u>idneys, <u>a</u>drenal and <u>l</u>ung dysgenesis)-Syndrom ist gekennzeichnet durch Weiblich-zu-Männlich-Geschlechtsumkehr und Entwicklungsanomalien der Nieren. Nebennieren und Lungen."},"es":{"name":"Síndrome SERKAL","synonyms":["Reversión sexual-disgenesia adrenal, renal y pulmonar","Reversión sexual-disgenesia suprarrenal, renal y pulmonar"],"definition":"El síndrome SERKAL (reversión sexual, riñones, disgenesia suprarrenal y pulmonar) está caracterizado por la reversión del sexo femenino a masculino y anomalías en el desarrollo de los riñones, las glándulas suprarrenales y los pulmones."},"it":{"name":"Sindrome SERKAL","synonyms":["Reversione sessuale - disgenesia surrenale, renale e polmonare","Reversione sessuale - disgenesia surrenalica, renale e polmonare"]},"nl":{"name":"SERKAL-syndroom","synonyms":["Geslachtsomkering - dysgenesie van nier, bijnier en long-syndroom"],"definition":"SERKAL (geslachtsomkering - dysgenesie van nier, bijnier en long)-syndroom wordt gekenmerkt door geslachtsomkering van vrouw naar man en ontwikkelingsanomalieën van nier, bijnier en long."},"pt":{"name":"Síndrome SERKAL","definition":"A síndrome de SERKAL (Reversão Sexual, disgenesia dos Rins, Suprarrenais e dos Pulmões) é caracterizada por reversão sexual do sexo feminino para o sexo masculino e anomalias do desenvolvimento dos rins, glândulas suprarrenais e pulmões."},"pl":{"name":"Zespół SERKAL","synonyms":["Odwrócenie płci - nerki, dysgeneza nadnerczy i płuc"]},"cs":{"name":"SERKAL syndrom","synonyms":["Syndrom zahrnující sex-reversion a dysgenezi ledvin, nadledvin a plic"]},"uk":{"name":"Синдром SERKAL","synonyms":["Реверсія статі - синдром дисгенезії нирок, надниркових залоз та легень"],"definition":"SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs."},"zh":{"name":"SERKAL综合征","synonyms":["性别逆转-肾脏、肾上腺和肺发育不全综合征"],"definition":"SERKAL（性别逆转，肾脏、肾上腺和肺发育不全）综合征的特点是女性到男性的性别逆转，以及肾脏、肾上腺和肺发育异常。"},"tr":{"name":"SERKAL sendromu","synonyms":["Cinsiyet reversiyonu-böbrekler, adrenal ve akciğer disgenezi sendromu"]}},"xrefs":[{"source":"OMIM","code":"611812","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012734","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567517","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2678492","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10302","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":325109,"name":"Syndrome with 46,XX difference of sex development","classifications":[147,156,185,193]}],"children":[],"genes":[{"symbol":"WNT4","name":"Wnt family member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"18179883[PMID]","hgnc":"12783","ensembl":"ENSG00000162552","omim":"603490","loci":["1p36.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"18179883[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18179883[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-01-18","source":"18179883[PMID]","terms":[{"hpo":"HP:0001510","label":"Growth delay","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0012245","label":"Sex reversal","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000834","label":"Abnormality of the adrenal glands","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000036","label":"Abnormality of the penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005343","label":"Hypoplasia of the bladder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004794","label":"Malrotation of small bowel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null}]}}