{"orpha":315306,"name":"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Classic 21-OHD CAH, salt wasting form"],"definition":"A form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency characterized by abnormal genital development with variable levels of virilization in females and normal genitalia in males in association with glucocorticoid insufficiency with salt-wasting due to aldosterone deficiency, accelerated growth velocity and bone maturation, premature adrenarche and precocious puberty leading to reduced adult height.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-315306/","orphanet_url":"https://www.orpha.net/en/disease/detail/315306","names":{"fr":{"name":"Hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique avec perte de sel","synonyms":["HCS classique par 21-OHD avec perte de sel"],"definition":"Forme d'hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique, caractérisée par une anomalie de développement des organes génitaux avec une virilisation des organes génitaux externes de degré variable chez la femme et des organes génitaux normaux chez l'homme, associée à un déficit en glucocorticoïdes avec perte de sel due à un déficit en aldostérone, une accélération de la croissance et une maturation osseuse, une adrénarche prématurée et une puberté précoce à l'origine d'une petite taille à l'âge adulte."},"de":{"name":"Nebennierenhyperplasie, kongenitale, durch 21-Hydroxylase-Mangel, klassische Form mit Salzverlust","synonyms":["Klassische 21-OHD CAH, mit Salzverlust","Klassische kongenitale adrenale Hyperplasie durch 21-Hydroxylase-Mangel mit Salzverlust"],"definition":"Form der klassischen kongenitalen Nebennierenhyperplasie durch 21-Hydroxylase-Mangel, gekennzeichnet durch eine abnorme Genitalentwicklung mit variabler Virilisierung im weiblichen Geschlecht und normalen Genitalien im männlichen Geschlecht in Kombination mit einem Glukokortikoid-Mangel mit Salzverlust aufgrund von Aldosteronmangel, beschleunigtem Wachstum und Knochenreifung, vorzeitiger Adrenarche und Pubertät mit der Folge einer geringeren Körpergröße im Erwachsenenalter."},"es":{"name":"Hiperplasia suprarrenal congénita clásica por deficiencia de 21-hidroxilasa, forma perdedora de sal","synonyms":["HSC 21-OHD clásica, forma perdedora de sal"],"definition":"Es una forma de hiperplasia suprarrenal congénita clásica debida a un déficit de 21-hidroxilasa que se caracteriza por un desarrollo genital anómalo con niveles variables de virilización en las mujeres y genitales normales en los varones en asociación con insuficiencia de glucocorticoides con pérdida de sal debido a la deficiencia de aldosterona, tasa de crecimiento y maduración ósea aceleradas, adrenarquia prematura y pubertad precoz que conducen a una talla adulta baja."},"it":{"name":"Iperplasia congenita classica del surrene da deficit di 21-idrossilasi, forma con perdita di Sali","synonyms":["CAH classica da 21-OHD, forma con perdita di sali"],"definition":"Si tratta di una forma di iperplasia congenita classica del surrene da deficit di 21-idrossilasi, caratterizzata da anomalie dello sviluppo dei genitali con virilizzazione di grado variabile nelle femmine, e genitali normali nei maschi, associati all'insufficienza di glucocorticoidi con perdita di sali secondaria al deficit di aldosterone, accelerazione della crescita e della maturazione ossea, adrenarca e pubertà precoci, che esitano in una statura ridotta nell'età adulta."},"nl":{"name":"Klassieke congenitale adrenale hyperplasie door deficiëntie van 21-hydroxylase, vorm met zoutverlies","synonyms":["Klassieke 21-OHD CAH, met zoutverlies","Klassieke congenitale bijnierhyperplasie door deficiëntie van 21-hydroxylase, vorm met zoutverlies"],"definition":"Een vorm van klassieke congenitale adrenale hyperplasie door deficiëntie van 21-hydroxylase, gekenmerkt door abnormale ontwikkeling van geslachtsorganen, met variabele mate van virilisatie bij vrouwen en normale genitaliën bij mannen, geassocieerd met insufficiëntie van glucocorticoïden en zoutverlies door deficiëntie van aldosteron, verhoogde groeisnelheid en botmaturatie, premature adrenarche, en vroegtijdige puberteit, met kleinere volwassen lichaamslengte tot gevolg."},"pt":{"name":"Hiperplasia supra-renal congénita clássica por deficiência de 21-hidroxilase, com perda de sais","synonyms":["CAH clássica 21-OHD, com perda de sais"],"definition":"Forma de hiperplasia supra-renal congénita clássica devido a deficiência de 21-hidroxilase caracterizada por um desenvolvimento genital anómalo com níveis variáveis ​​de virilização em indivíduos do sexo feminino e genitália normal em indivíduos do sexo masculino associado a insuficiência de glicocorticóides e perda de sal devido à deficiência de aldosterona, velocidade de crescimento e maturação óssea aceleradas, adrenarca prematura e puberdade precoce levando à diminuição da altura em idade adulta."},"pl":{"name":"Klasyczny wrodzony przerost nadnerczy spowodowany niedoborem 21-hydroksylazy, postać z utratą soli","synonyms":["Klasyczny 21-OHD CAH, postać z utratą soli"]},"cs":{"name":"Klasická forma vrozené adrenální hyperplázie způsobená deficitem 21-hydroxylázy, forma se solnými ztrátami","synonyms":["Klasická CAH, 21-OHD, forma se solnými ztrátami"]},"uk":{"name":"Класична вроджена гіперплазія надниркових залоз, зумовлена дефіцитом 21-гідроксилази, солевтратна форма","synonyms":["Класичний 21-OHD АГС, сільвтрачаюча форма"],"definition":"A form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency characterized by abnormal genital development with variable levels of virilization in females and normal genitalia in males in association with glucocorticoid insufficiency with salt-wasting due to aldosterone deficiency, accelerated growth velocity and bone maturation, premature adrenarche and precocious puberty leading to reduced adult height."},"zh":{"name":"21羟化酶缺乏所致经典失盐型先天性肾上腺增生症","synonyms":["21羟化酶缺乏所致经典失盐型CAH"],"definition":"21羟化酶缺陷所致盐分漏失型典型先天性肾上腺皮质增生症（典型的21 OHD-CAH；见本术语）的特点是女性外生殖器男性化、皮质激素低下、性早熟和醛固酮缺乏引起的肾盐丢失。"},"tr":{"name":"21-hidroksilaz eksikliğine bağlı klasik Doğumsal adrenal hiperplazi, tuz kaybı formu","synonyms":["Klasik 21-OHD CAH, tuz kaybettiren formu"]}},"xrefs":[{"source":"OMIM","code":"201910","qualifier":"NTBT","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":"1057771841"},{"source":"MONDO","code":"0017839","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679896","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90794,"name":"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency","classifications":[147,156,185,193,201,205]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.5,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.5,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":null}