{"orpha":418,"name":"Congenital adrenal hyperplasia","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["CAH"],"definition":"A group of rare inherited endocrine disorders caused by a steroidogenic enzyme deficiency and characterized by adrenal insufficiency and variable degrees of hyper- or hypoandrogenism manifestations, depending on disease type and severity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-418/","orphanet_url":"https://www.orpha.net/en/disease/detail/418","names":{"fr":{"name":"Hyperplasie congénitale des surrénales","synonyms":["CAH","HCS","Hyperplasie surrénalienne congénitale"],"definition":"Groupe de maladies endocriniennes héréditaires rares causées par un déficit enzymatique de la stéroïdogenèse et caractérisées, selon le type de la maladie et sa sévérité, par une insuffisance surrénale et des manifestations d'hyper- ou d'hypoandrogénie de degrés variables."},"de":{"name":"Nebennierenhyperplasie, kongenitale","synonyms":["CAH","Kongenitale adrenale Hyperplasie"],"definition":"Eine Gruppe seltener hereditärer Endokrinopathien, die durch einen Mangel an steroidogenen Enzymen verursacht werden und je nach Art und Schweregrad der Erkrankung durch eine Nebenniereninsuffizienz und unterschiedliche Ausprägungen von Hyper- oder Hypoandrogenismus gekennzeichnet sind."},"es":{"name":"Hiperplasia suprarrenal congénita","synonyms":["CAH","HSC"],"definition":"Es un grupo de trastornos endocrinos hereditarios poco frecuentes causados por una deficiencia de enzimas esteroidogénicas y caracterizados por insuficiencia suprarrenal y grados variables de manifestaciones de hiperandrogenismo o hipoandrogenismo, según el tipo de enfermedad y gravedad."},"it":{"name":"Iperplasia congenita dei surreni","synonyms":["CAH"],"definition":"Si tratta di un gruppo di malattie endocrine ereditarie rare, causate da un deficit degli enzimi steroidogenici, e caratterizzate da insufficienza surrenalica ed iperandrogenismo o ipoandrogenismo di grado variabile, a seconda del tipo e della gravità della malattia."},"nl":{"name":"Congenitale hyperplasie van bijnier","synonyms":["CAH","Congenitale adrenale hyperplasie","Congenitale bijnierhyperplasie"],"definition":"Een groep van zeldzame erfelijke endocriene aandoeningen, veroorzaakt door deficiëntie van een steroïdogeen enzym, en gekenmerkt door bijnierschorsinsufficiëntie en variabele gradaties van hyper- of hypoandrogene manifestaties, afhankelijk van type en ernst van de ziekte."},"pt":{"name":"Hiperplasia supra-renal congénita","synonyms":["CAH"],"definition":"Grupo de doenças endócrinas hereditárias raras causadas por deficiência de enzima esteroidogénica e caracterizadas por insuficiência supra-renal e graus variáveis ​​de manifestações de hiper ou hipoandrogenismo, dependendo do tipo e da gravidade da doença."},"pl":{"name":"Wrodzony przerost kory nadnerczy","synonyms":["CAH"]},"cs":{"name":"Vrozená adrenální hyperplázie","synonyms":["CAH"]},"uk":{"name":"Вроджена гіперплазія надниркових залоз","synonyms":["CAH"],"definition":"A group of rare inherited endocrine disorders caused by a steroidogenic enzyme deficiency and characterized by adrenal insufficiency and variable degrees of hyper- or hypoandrogenism manifestations, depending on disease type and severity."},"zh":{"name":"先天性肾上腺增生","synonyms":["CAH"]},"tr":{"name":"Doğumsal adrenal hiperplazi","synonyms":["CAH"]}},"xrefs":[{"source":"OMIM","code":"201710","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"201810","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"201910","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"202010","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"202110","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613571","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E25.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5A71.01","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"172733763"},{"source":"MONDO","code":"0018479","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18479","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000312","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0001627","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1467","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10010323","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":181412,"name":"Adrenogenital syndrome","classifications":[156,193]},{"orpha":101960,"name":"Genetic chronic primary adrenal insufficiency","classifications":[156,193]},{"orpha":156643,"name":"Genetic endocrine growth disease","classifications":[156]},{"orpha":90692,"name":"Rare endocrine growth disease","classifications":[193]}],"children":[{"orpha":63269,"name":"Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis","type":"Clinical subtype"},{"orpha":90794,"name":"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency","type":"Disease"},{"orpha":90795,"name":"Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency","type":"Disease"},{"orpha":90793,"name":"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency","type":"Disease"},{"orpha":90791,"name":"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency","type":"Disease"},{"orpha":95699,"name":"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency","type":"Disease"},{"orpha":90790,"name":"Congenital lipoid adrenal hyperplasia due to STAR deficency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-5 / 10 000","value":13.35,"area":"Europe","status":"Validated","source":"[EXPERT]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":10.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2018[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.7,"area":"Europe","status":"Not yet validated","source":"15964450[PMID]_15554889[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":8.6,"area":"France","status":"Validated","source":"10079883[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.65,"area":"Italy","status":"Not yet validated","source":"8784357[PMID]_15818055[PMID]_ ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":12.8,"area":"Germany","status":"Validated","source":"20148377[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":10.2,"area":"Sweden","status":"Validated","source":"9521977[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.6,"area":"United Kingdom","status":"Not yet validated","source":"22241917[PMID]_3259306[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.65,"area":"Netherlands","status":"Not yet validated","source":"15554889[PMID]_11731654[PMID]_ ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Belgium","status":"Validated","source":"15554889[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.3,"area":"Switzerland","status":"Validated","source":"12213856[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.35,"area":"Japan","status":"Not yet validated","source":"23330248[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.9,"area":"New Zealand","status":"Validated","source":"3259306[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.3,"area":"Cuba","status":"Validated","source":"23481450[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.7,"area":"Taiwan, Province of China","status":"Validated","source":"12517042[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":38.8,"area":"India","status":"Validated","source":"15053381[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.8,"area":"United States","status":"Not yet validated","source":"21641615[PMID]_15964450[PMID]_22766612[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.36,"area":"China","status":"Validated","source":"34103049[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.98,"area":"Czech Republic","status":"Validated","source":"31241292[PMID]"}],"phenotypes":null}