{"orpha":397615,"name":"Obesity due to CEP19 deficiency","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic form of obesity characterized by morbid obesity, hypertension, type 2 diabetes mellitus and dyslipidemia leading to early coronary disease, myocardial infarction and congestive heart failure. Intellectual disability and decreased sperm counts or azoospermia have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-397615/","orphanet_url":"https://www.orpha.net/en/disease/detail/397615","names":{"fr":{"name":"Obésité par déficit en CEP19","definition":"Forme génétique rare d'obésité caractérisée par une obésité morbide, une hypertension, un diabète sucré de type 2 et une dyslipidémie entraînant maladie coronarienne précoce, infarctus du myocarde et insuffisance cardiaque congestive. Une déficience intellectuelle et une baisse du nombre de spermatozoïdes ou une azoospermie ont également été rapportées."},"de":{"name":"Adipositas durch CEP19-Mangel"},"es":{"name":"Obesidad por deficiencia de CEP19","definition":"Es una forma de obesidad genética poco frecuente caracterizada por obesidad mórbida, hipertensión, diabetes mellitus tipo 2 y dislipemia que conduce a enfermedad coronaria temprana, infarto de miocardio e insuficiencia cardíaca congestiva. También se ha descrito discapacidad intelectual y un menor recuento de espermatozoides o azoospermia."},"it":{"name":"Obesità da deficit di CEP19","definition":"È una forma genetica rara di obesità caratterizzata da obesità patologica, ipertensione, diabete mellito tipo 2 e dislipidemia, che esitano nella coronaropatia precoce, nell'infarto del miocardio e nell'insufficienza cardiaca congestizia. Sono stati descritti pazienti con disabilità intellettiva e diminuzione del numero degli spermatozoi o azoospermia."},"nl":{"name":"Obesitas door CEP19-deficiëntie","definition":"Een zeldzame, genetische vorm van obesitas die gekarakteriseerd wordt door morbide obesitas, hypertensie, type 2 diabetes mellitus en dyslipidemie met vroege kransslagaderziekte tot gevolg, hartinfarct en congestief hartfalen. Intellectuele beperking en verminderd aantal zaadcellen of azoöspermie werden ook reeds gerapporteerd."},"pt":{"name":"Obesidade por défice de CEP19"},"pl":{"name":"Otyłość z powodu niedoboru CEP19"},"cs":{"name":"Obezita způsobená deficitem CEP19"},"uk":{"name":"Ожиріння, зумовлене дефіцитом CEP19","definition":"A rare, genetic form of obesity characterized by morbid obesity, hypertension, type 2 diabetes mellitus and dyslipidemia leading to early coronary disease, myocardial infarction and congestive heart failure. Intellectual disability and decreased sperm counts or azoospermia have also been reported."},"zh":{"name":"CEP19基因缺陷所致肥胖","definition":"本病是一种罕见的遗传性肥胖，以病态肥胖、高血压、2型糖尿病和血脂异常为特征，可导致早期冠心病、心肌梗死和充血性心力衰竭。智力障碍、精子数量减少或无精子症也有报道。"},"tr":{"name":"CEP19 eksikliğine bağlı obezite"}},"xrefs":[{"source":"OMIM","code":"615703","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E66.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5B81.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014309","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190985","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":98267,"name":"Genetic non-syndromic obesity","classifications":[156,193]}],"children":[],"genes":[{"symbol":"CEP19","name":"centrosomal protein 19","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24268657[PMID]","hgnc":"28209","ensembl":"ENSG00000174007","omim":"615586","loci":["3q29"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"24268657[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24268657[PMID]"}],"phenotypes":null}