{"orpha":2229,"name":"Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cardiogenital syndrome","Malouf syndrome","Najjar syndrome"],"definition":"A rare developmental defect during embryogenesis characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism. Additional features, which vary between patients, may include facial dysmorphism (including prominent nasal bone, beaked nose, micrognathia and ptosis), intellectual disability, progeroid appearance, skeletal abnormalities (such as scoliosis or osteoporosis), collagenoma, and metabolic abnormalities including lipodystrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2229/","orphanet_url":"https://www.orpha.net/en/disease/detail/2229","names":{"fr":{"name":"Syndrome de cardiomyopathie dilatée-hypogonadisme hypergonadotrope","synonyms":["Syndrome cardiogénital","Syndrome de Malouf","Syndrome de Najjar"],"definition":"Anomalie rare du développement embryonnaire caractérisée par l'association d'une cardiomyopathie dilatée et d'un hypogonadisme hypergonadotrope. D'autres manifestations, qui varient d'un patient à l'autre, peuvent inclure une dysmorphie faciale (notamment une arête nasale proéminente, un nez en bec, une micrognathie et un ptosis), une déficience intellectuelle, une apparence progéroïde, des anomalies squelettiques (telles qu'une scoliose ou une ostéoporose), un collagénome et des anomalies métaboliques, notamment une lipodystrophie."},"de":{"name":"Dilatative Kardiomyopathie-hypergonadotroper Hypogonadismus-Syndrom","synonyms":["Kardiogenitales Syndrom","Malouf-Syndrom","Najjar-Syndrom"],"definition":"Diese Syndrom ist gekennzeichnet durch die Assoziation von dilatativer Kardiomyopathie und hypergonadotropem Hypogonadismus."},"es":{"name":"Síndrome de miocardiopatía dilatada-hipogonadismo hipergonadotrópico","synonyms":["Síndrome cardiogenital","Síndrome de Najjar"],"definition":"Este síndrome se caracteriza por la asociación de una miocardiopatía dilatada y un hipogonadismo hipergonadotrópico (DCM-HH)."},"it":{"name":"Cardiomiopatia dilatativa - ipogonadismo ipergonadotropo","synonyms":["Sindrome cardiogenitale","Sindrome di Malouf","Sindrome di Najjar"]},"nl":{"name":"Gedilateerde cardiomyopathie - hypergonadotroop hypogonadisme-syndroom","synonyms":["Cardiogenitaal syndroom","Syndroom van Malouf","Syndroom van Najjar"],"definition":"Een syndroom, gekenmerkt door de associatie van gedilateerde cardiomyopathie en hypergonadotroop hypogonadisme (DCM-HH)."},"pt":{"name":"Síndrome de miocardiopatia dilatada-hipogonadismo hipergonadotrópico","synonyms":["Síndrome Malouf","Síndrome Najjar","Síndrome cardiogenital"],"definition":"Esta síndrome é caracterizada pela associação de cardiomiopatia dilatada e hipogonadismo hipergonadotrópico (DCM-HH)."},"pl":{"name":"Kardiomiopatia rozstrzeniowa - hipogonadyzm hipergonadotropowy","synonyms":["Zespół Malouf","Zespół Najjar","Zespół sercowo-płciowy"]},"cs":{"name":"Syndrom zahrnující dilatovanou kardiomyopatii a hypergonadotropní hypogonadismus","synonyms":["Kardiogenitální syndrom","Maloufův syndrom","Najjarův syndrom"]},"uk":{"name":"Синдром дилатаційної кардіоміопатії-гіпергонадотропного гіпогонадизму","synonyms":["Кардіогенітальний синдром","Синдром Малуфа","Синдром Наджара"],"definition":"This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH)."},"zh":{"name":"扩张型心肌病-高促性腺激素性性腺功能减退综合征","synonyms":["心-生殖器综合征"]},"tr":{"name":"Dilate kardiyomiyopati-hipergonadotropik hipogonadizm sendromu","synonyms":["Malouf sendromu","Najjar sendromu","Kardiyogenital sendrom"]}},"xrefs":[{"source":"OMIM","code":"212112","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I42.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC43.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008915","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535580","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796083","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3373","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":300755,"name":"Laminopathy with striated muscle involvement","classifications":[156]},{"orpha":181441,"name":"Rare disorder with hypergonadotropic hypogonadism","classifications":[156,193,201]},{"orpha":217619,"name":"Syndrome associated with dilated cardiomyopathy","classifications":[146,156,233]}],"children":[],"genes":[{"symbol":"LMNA","name":"lamin A/C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19283854[PMID]","hgnc":"6636","ensembl":"ENSG00000160789","omim":"150330","loci":["1q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":20.0,"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":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100362","label":"Aplasia of the phalanges of the 3rd toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null}]}}