Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Synonyms: Classic 21-OHD CAH, salt wasting form
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form | Classic 21-OHD CAH, salt wasting form |
| fr | Hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique avec perte de sel | HCS classique par 21-OHD avec perte de sel |
| de | Nebennierenhyperplasie, kongenitale, durch 21-Hydroxylase-Mangel, klassische Form mit Salzverlust | Klassische 21-OHD CAH, mit Salzverlust · Klassische kongenitale adrenale Hyperplasie durch 21-Hydroxylase-Mangel mit Salzverlust |
| es | Hiperplasia suprarrenal congénita clásica por deficiencia de 21-hidroxilasa, forma perdedora de sal | HSC 21-OHD clásica, forma perdedora de sal |
| it | Iperplasia congenita classica del surrene da deficit di 21-idrossilasi, forma con perdita di Sali | CAH classica da 21-OHD, forma con perdita di sali |
| nl | Klassieke congenitale adrenale hyperplasie door deficiëntie van 21-hydroxylase, vorm met zoutverlies | Klassieke 21-OHD CAH, met zoutverlies · Klassieke congenitale bijnierhyperplasie door deficiëntie van 21-hydroxylase, vorm met zoutverlies |
| pt | Hiperplasia supra-renal congénita clássica por deficiência de 21-hidroxilase, com perda de sais | CAH clássica 21-OHD, com perda de sais |
| pl | Klasyczny wrodzony przerost nadnerczy spowodowany niedoborem 21-hydroksylazy, postać z utratą soli | Klasyczny 21-OHD CAH, postać z utratą soli |
| cs | Klasická forma vrozené adrenální hyperplázie způsobená deficitem 21-hydroxylázy, forma se solnými ztrátami | Klasická CAH, 21-OHD, forma se solnými ztrátami |
| uk | Класична вроджена гіперплазія надниркових залоз, зумовлена дефіцитом 21-гідроксилази, солевтратна форма | Класичний 21-OHD АГС, сільвтрачаюча форма |
| zh | 21羟化酶缺乏所致经典失盐型先天性肾上腺增生症 | 21羟化酶缺乏所致经典失盐型CAH |
| tr | 21-hidroksilaz eksikliğine bağlı klasik Doğumsal adrenal hiperplazi, tuz kaybı formu | Klasik 21-OHD CAH, tuz kaybettiren formu |
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 | 0017839 | E | validated | |
| UMLS | C5679896 | 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 7.5 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 100 000 | 7.5 / 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/315306
- This record as JSON: /data/d/315306.json