Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Synonyms: Classic 21-OHD CAH, simple virilizing form
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of classical 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 absence of salt-wasting, accelerated growth velocity and bone maturation, premature adrenarche and precocious puberty leading to reduced adult height. Females have a normal uterus and various degrees of abnormal vaginal development.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form | Classic 21-OHD CAH, simple virilizing form |
| fr | Hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique virilisante | HCS classique virilisante par 21-OHD |
| de | Nebennierenhyperplasie, kongenitale, durch 21-Hydroxylase-Mangel, klassische Form, einfach virilisierend | Klassische 21-OHD CAH, einfach virilisierend · Klassische kongenitale adrenale Hyperplasie durch 21-Hydroxylase-Mangel, virilisierende Form |
| es | Hiperplasia suprarrenal congénita clásica por deficiencia de 21-hidroxilasa, forma virilizante simple | HSC clásica virilizante por 21-OHD |
| it | Iperplasia congenita classica del surrene da deficit di 21-idrossilasi, forma virilizzante semplice | CAH classica da 21-OHD, forma virilizzante semplice |
| nl | Klassieke congenitale adrenale hyperplasie door deficiëntie van 21-hydroxylase, eenvoudige viriliserende vorm | Klassieke 21-OHD CAH, eenvoudige viriliserende vorm · Klassieke congenitale bijnierhyperplasie door deficiëntie van 21-hydroxylase, eenvoudige viriliserende vorm |
| pt | Hiperplasia supra-renal congénita clássica por deficiência de 21-hidroxilase, forma virilizante simples | CAH clássica 21-OHD, forma virilizante simples |
| pl | Klasyczny wrodzony przerost nadnerczy spowodowany niedoborem 21-hydroksylazy, postać prosta maskulinizująca | Klasyczny 21-OHD CAH, postać prosta maskulinizująca |
| cs | Klasická forma vrozené adrenální hyperplázie způsobená deficitem 21-hydroxylázy, prostá virilizující forma | Klasická CAH, 21-OHD, prostá virilizující forma |
| uk | Класична вроджена гіперплазія надниркових залоз, зумовлена дефіцитом 21-гідроксилази, проста вірильна форма | Класичний 21-OHD АГС, проста вірилізуюча форма |
| zh | 21羟化酶缺乏所致经典单纯男性化型先天性肾上腺增生症 | 21羟化酶缺乏所致经典单纯男性化型CAH |
| tr | 21-hidroksilaz eksikliğine bağlı klasik Doğumsal adrenal hiperplazi, basit virilize form | Klasik 21-OHD CAH, basit virilize form |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 201910 | NTBT | validated | |
| ICD-10 | E25.0 | NTBT | attributed | validated |
| ICD-11 | 5A71.01 | NTBT | index | validated |
| MONDO | 0017840 | E | validated | |
| UMLS | C5679895 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:90794Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CYP21A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2600 | ENSG00000231852 | 613815 | 6p21.33 | cytochrome P450 family 21 subfamily A member 2 |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.5 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/315311
- This record as JSON: /data/d/315311.json