{"orpha":90794,"name":"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Classic 21-OHD CAH"],"definition":"A form of congenital adrenal hyperplasia (CAH) characterized by simple virilizing or salt wasting forms that can manifest with abnormal genital development with variable levels of virilization in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90794/","orphanet_url":"https://www.orpha.net/en/disease/detail/90794","names":{"fr":{"name":"Hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique","synonyms":["HCS classique par 21-OHD"],"definition":"Forme d'hyperplasie congénitale des surrénales (HCS) caractérisée par des formes virilisantes pures ou des formes avec perte de sel, qui peut se manifester par une anomalie de développement des organes génitaux avec virilisation de degré variable chez la femme et avec insuffisance surrénale chez la femme et l'homme. La maladie se manifeste par une déshydratation et une hypoglycémie (potentiellement létales en l'absence de traitement), ainsi que par une hyperandrogénie."},"de":{"name":"Nebennierenhyperplasie, kongenitale, durch 21-Hydroxylase-Mangel, klassische Form","synonyms":["Klassische 21-OHD CAH","Klassische kongenitale adrenale Hyperplasie durch 21-Hydroxylase-Mangel"],"definition":"Die klassische Form der Nebennierenhyperplasie durch 21-Hydroxylase-Mangel (klassische 21-OHD CAH) ist die häufigste Form der kongenitalen Nebennierenhypoplasie. Sie tritt als einfach virilisierende oder als Salzverlust-Form auf und kann sich im weiblichen Geschlecht mit intersexuellem Genitale manifestieren. Mögliche Symptome in beiden Geschlechtern sind Zeichen der Nebenniereninsuffizienz: Dehydratation und lebensbedrohliche Hypoglykämie in der Neugeborenenzeit und Hyperandrogenie."},"es":{"name":"Hiperplasia suprarrenal congénita clásica por deficiencia de 21-hidroxilasa","synonyms":["CAH 21-OHD clásica","HSC 21-OHD clásica"],"definition":"Es una forma de hiperplasia suprarrenal congénita (HSC) caracterizada por formas virilizantes o perdedoras de sal simples que pueden manifestarse con un desarrollo genital anómalo, asociando niveles variables de virilización en las mujeres e insuficiencia suprarrenal en ambos sexos, y que se presenta con deshidratación e hipoglucemia (que puede resultar letal sin tratamiento) en el período neonatal, así como con hiperandrogenismo."},"it":{"name":"Iperplasia congenita classica del surrene da deficit di 21-idrossilasi","synonyms":["21-OHD CAH classica"],"definition":"Si tratta di una forma di iperplasia congenita dei surreni (CAH), che comprende la forma virilizzante semplice e quella con perdita di sali, che si manifestano con anomalie dello sviluppo dei genitali, virilizzazione di grado variabile nelle femmine, e insufficienza surrenalica in entrambi i sessi. La malattia esordisce nel periodo neonatale con disidratazione e ipoglicemia (che, se non trattata, può essere letale) ed iperandrogenismo."},"nl":{"name":"Klassieke congenitale adrenale hyperplasie door deficiëntie van 21-hydroxylase","synonyms":["Klassieke 21-OHD CAH","Klassieke congenitale bijnierhyperplasie door deficiëntie van 21-hydroxylase"],"definition":"Een vorm van congenitale adrenale hyperplasie (CAH), gekenmerkt door eenvoudige viriliserende of zoutverliezende vormen die zich kunnen manifesteren met abnormale genitale ontwikkeling met variabele gradaties van virilisatie bij vrouwen en met bijnierinsufficiëntie bij beide geslachten, en zich presenteren met dehydratie en hypoglycemie (die letaal kan zijn zonder behandeling) in de neonatale periode, en hyperandrogenisme."},"pt":{"name":"Hiperplasia supra-renal congénita clássica por deficiência de 21-hidroxilase","synonyms":["21-OHD CAH clássica"],"definition":"Forma de hiperplasia supra-renal congénita (HCSR) caracterizada por formas virilizantes simples ou com perda de sal que podem manifestar-se através de um desenvolvimento genital anómalo com níveis variáveis ​​de virilização em indivíduos femininos e com insuficiência supra-renal em ambos os sexos, e cuja apresentação clínica ocorre com desidratação e hipoglicemia (que pode ser fatal se não tratada) no período neonatal, bem como hiperandrogenia."},"pl":{"name":"Klasyczny wrodzony przerost nadnerczy spowodowany niedoborem 21-hydroksylazy","synonyms":["Klasyczny 21-OHD CAH"]},"cs":{"name":"Klasická vrozená adrenální hyperplázie způsobená deficitem 21-hydroxylázy","synonyms":["Klasická 21-OHD CAH"]},"uk":{"name":"Класична вроджена гіперплазія надниркових залоз внаслідок дефіциту 21-гідроксилази","synonyms":["Класичний 21-OHD АГС"],"definition":"A form of congenital adrenal hyperplasia (CAH) characterized by simple virilizing or salt wasting forms that can manifest with abnormal genital development with variable levels of virilization in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenia."},"zh":{"name":"21-羟化酶所致经典性先天性肾上腺皮质增生症","synonyms":["经典21-羟化酶缺乏所致先天性肾上腺皮质增生"]},"tr":{"name":"21-hidroksilaz eksikliğine bağlı klasik doğumsal adrenal hiperplazi","synonyms":["Klasik 21-OHD CAH"]}},"xrefs":[{"source":"OMIM","code":"201910","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":"1579690045"},{"source":"MONDO","code":"0008728","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4273964","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12665","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]},{"orpha":400018,"name":"Rare female infertility due to adrenal disorder of genetic origin","classifications":[156]},{"orpha":399849,"name":"Rare female infertility due to an adrenal disorder","classifications":[201]},{"orpha":399584,"name":"Rare male infertility due to adrenal disorder","classifications":[201]},{"orpha":399994,"name":"Rare male infertility due to adrenal disorder of genetic origin","classifications":[156]}],"children":[{"orpha":315306,"name":"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form","type":"Clinical subtype"},{"orpha":315311,"name":"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"CYP21A2","name":"cytochrome P450 family 21 subfamily A member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2600","ensembl":"ENSG00000231852","omim":"613815","loci":["6p21.33"],"via":{"orpha":315306,"name":"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form"}},{"symbol":"CYP21A2","name":"cytochrome P450 family 21 subfamily A member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2600","ensembl":"ENSG00000231852","omim":"613815","loci":["6p21.33"],"via":{"orpha":315311,"name":"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form"}}],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.0,"area":"Worldwide","status":"Not yet validated","source":"3259306[PMID]_15964450[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.4,"area":"France","status":"Validated","source":"22312171[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.2,"area":"Italy","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":8.7,"area":"Sweden","status":"Validated","source":"2321478[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.2,"area":"United States","status":"Validated","source":"9521938[PMID]_22692165[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.2,"area":"New Zealand","status":"Validated","source":"7815200[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.4,"area":"Croatia","status":"Validated","source":"19844117[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.2,"area":"Estonia","status":"Validated","source":"18204270[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.5,"area":"Singapore","status":"Validated","source":"12008686[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.5,"area":"Switzerland","status":"Validated","source":"6967865[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-04-02","source":"32966723[PMID]_20301350[PMID]","terms":[{"hpo":"HP:0031074","label":"Abnormal response to ACTH stimulation test","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008163","label":"Decreased circulating cortisol level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031213","label":"Elevated circulating 17-hydroxyprogesterone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030348","label":"Increased circulating androgen concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031216","label":"Increased circulating progesterone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000811","label":"Abnormal external genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031066","label":"Abnormal ovarian physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0500022","label":"Abnormal serum dehydroepiandrosterone level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000140","label":"Abnormality of the menstrual cycle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001061","label":"Acne","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008665","label":"Clitoral hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004319","label":"Decreased circulating aldosterone level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000144","label":"Decreased fertility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003639","label":"Elevated urinary epinephrine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001507","label":"Growth abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000841","label":"Hyperactive renin-angiotensin system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002153","label":"Hyperkalemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005976","label":"Hyperkalemic metabolic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012605","label":"Hypernatriuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012417","label":"Hypocapnia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003113","label":"Hypochloremia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011106","label":"Hypovolemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003154","label":"Increased circulating ACTH level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025380","label":"Increased circulating androstenedione concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030088","label":"Increased serum testosterone level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001998","label":"Neonatal hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000876","label":"Oligomenorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004012","label":"Premature fusion of the radial epiphyseal plates","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012411","label":"Premature pubarche","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008207","label":"Primary adrenal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000127","label":"Renal salt wasting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000061","label":"Ambiguous genitalia, female","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000151","label":"Aplasia of the uterus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002292","label":"Frontal balding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025486","label":"Fused labia majora","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000040","label":"Long penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010465","label":"Precocious puberty in females","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012412","label":"Premature adrenarche","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031273","label":"Shock","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005268","label":"Spontaneous abortion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025451","label":"Testicular adrenal rest tumor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100779","label":"Urogenital sinus anomaly","frequency":"Occasional (29-5%)","criteria":null}]}}