{"orpha":90795,"name":"Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CAH due to 11-beta-hydroxylase deficiency","CYP11B1 deficiency"],"definition":"A rare form of classic congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90795/","orphanet_url":"https://www.orpha.net/en/disease/detail/90795","names":{"fr":{"name":"Hyperplasie congénitale des surrénales par déficit en 11-bêta-hydroxylase","synonyms":["Déficit en CYP11B1","HCS par déficit en 11-bêta-hydroxylase"],"definition":"Forme rare d'hyperplasie congénitale des surrénales (HCS) classique, caractérisée par un déficit en glucocorticoïdes, une hyperandrogénie, une hypertension et une virilisation chez les femmes."},"de":{"name":"Nebennierenhyperplasie, kongenitale, durch 11-beta-Hydroxylase-Mangel","synonyms":["CAH durch 11-beta-Hydroxylase-Mangel","CYP11B1-Mangel","Kongenitale adrenale Hyperplasie durch 11-beta-Hydroxylase-Mangel"],"definition":"Eine seltene Form der klassischen kongenitalen Nebennierenhyperplasie (CAH), die durch Glukokortikoidmangel, Hyperandrogenismus, Hypertonie und Virilisierung im weiblichen Geschlecht gekennzeichnet ist."},"es":{"name":"Hiperplasia suprarrenal congénita por deficiencia de 11-beta-hidroxilasa","synonyms":["CAH por deficiencia de 11-beta-hidroxilasa","Deficiencia de CYP11B1"],"definition":"Es una forma de hiperplasia suprarrenal congénita clásica (HSC) poco frecuente caracterizada por deficiencia de glucocorticoides, hiperandrogenismo, hipertensión y virilización en mujeres."},"it":{"name":"Iperplasia congenita del surrene da deficit di 11-beta-idrossilasi","synonyms":["CAH da deficit di 11-beta-idrossilasi","Deficit di CYP11B1"],"definition":"Si tratta di una forma rara di iperplasia congenita dei surreni (CAH), caratterizzata da deficit di glucocorticoidi, iperandrogenismo, ipertensione e virilizzazione nelle femmine."},"nl":{"name":"Congenitale adrenale hyperplasie door deficiëntie van 11-bèta-hydroxylase","synonyms":["CAH door deficiëntie van 11-bèta-hydroxylase","CYP11B1-deficiëntie","Congenitale bijnierhyperplasie door deficiëntie van 11-bèta-hydroxylase"],"definition":"Een zeer zeldzame vorm van klassieke congenitale adrenale hyperplasie (CAH), gekenmerkt door deficiëntie van glucocorticoïd, hyperandrogenisme, hypertensie en virilisatie bij vrouwen."},"pt":{"name":"Hiperplasia supra-renal congénita por deficiência de 11-beta-hidroxilase","synonyms":["CAH por deficiência de 11-beta-hidroxilase","Deficiência de CYP11B1"],"definition":"Forma rara de hiperplasia supra-renal congénita (HCSR) clássica caracterizada por deficiência de glicocorticóides, hiperandrogenismo, hipertensão e virilização em indivíduos femininos."},"pl":{"name":"Wrodzony przerost nadnerczy spowodowany niedoborem 11-beta-hydroksylazy","synonyms":["CAH spowodowany niedoborem 11-beta-hydroksylazy","Niedobór CYP11B1"]},"cs":{"name":"Vrozená adrenální hyperplázie způsobená deficitem 11-beta-hydroxylázy","synonyms":["Deficit CYP11B1","CAH způsobená deficitem 11-beta-hydroxylázy"]},"uk":{"name":"Вроджена гіперплазія надниркових залоз внаслідок дефіциту 11-бета-гідроксилази","synonyms":["АГС внаслідок дефіциту 11-бета-гідроксилази","Дефіцит CYP11B1"],"definition":"A rare form of classic congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females."},"zh":{"name":"11-β-羟化酶缺乏所致先天性肾上腺皮质增生症","synonyms":["类固醇11β-羟化酶缺乏所致先天性肾上腺皮质增生"]},"tr":{"name":"11-beta-hidroksilaz eksikliğine bağlı doğumsal adrenal hiperplazi","synonyms":["CYP11B1 eksikliği","11-beta-hidroksilaz eksikliğine bağlı CAH"]}},"xrefs":[{"source":"OMIM","code":"202010","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E25.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A71.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"791376680"},{"source":"MONDO","code":"0008729","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535978","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268292","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5658","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10000002","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90776,"name":"46,XX difference of sex development induced by fetal androgens excess","classifications":[147,156,185,193,205]},{"orpha":418,"name":"Congenital adrenal hyperplasia","classifications":[156,193]}],"children":[],"genes":[{"symbol":"CYP11B1","name":"cytochrome P450 family 11 subfamily B member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2591","ensembl":"ENSG00000160882","omim":"610613","loci":["8q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.75,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.47,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-04-06","source":"27928728[PMID]_28228528[PMID]_24741421[PMID]_33708317[PMID]","terms":[{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008163","label":"Decreased circulating cortisol level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003351","label":"Decreased circulating renin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031213","label":"Elevated circulating 17-hydroxyprogesterone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001507","label":"Growth abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002900","label":"Hypokalemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030348","label":"Increased circulating androgen concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025380","label":"Increased circulating androstenedione concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032330","label":"Increased urinary 11-deoxycorticosterone level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001061","label":"Acne","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000061","label":"Ambiguous genitalia, female","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008665","label":"Clitoral hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003154","label":"Increased circulating ACTH level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000858","label":"Irregular menstruation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008236","label":"Isosexual precocious puberty","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000040","label":"Long penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012412","label":"Premature adrenarche","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012411","label":"Premature pubarche","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030088","label":"Increased serum testosterone level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000127","label":"Renal salt wasting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025451","label":"Testicular adrenal rest tumor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010314","label":"Premature thelarche","frequency":"Very rare (<4-1%)","criteria":null}]}}