ORPHA:418
Congenital adrenal hyperplasia
Synonyms: CAH
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Status
- active
A group of rare inherited endocrine disorders caused by a steroidogenic enzyme deficiency and characterized by adrenal insufficiency and variable degrees of hyper- or hypoandrogenism manifestations, depending on disease type and severity.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital adrenal hyperplasia | CAH |
| fr | Hyperplasie congénitale des surrénales | CAH · HCS · Hyperplasie surrénalienne congénitale |
| de | Nebennierenhyperplasie, kongenitale | CAH · Kongenitale adrenale Hyperplasie |
| es | Hiperplasia suprarrenal congénita | CAH · HSC |
| it | Iperplasia congenita dei surreni | = en |
| nl | Congenitale hyperplasie van bijnier | CAH · Congenitale adrenale hyperplasie · Congenitale bijnierhyperplasie |
| pt | Hiperplasia supra-renal congénita | = en |
| pl | Wrodzony przerost kory nadnerczy | = en |
| cs | Vrozená adrenální hyperplázie | = en |
| uk | Вроджена гіперплазія надниркових залоз | = en |
| zh | 先天性肾上腺增生 | = en |
| tr | Doğumsal adrenal hiperplazi | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 201710 | BTNT | validated | |
| OMIM | 201810 | BTNT | validated | |
| OMIM | 201910 | BTNT | validated | |
| OMIM | 202010 | BTNT | validated | |
| OMIM | 202110 | BTNT | validated | |
| OMIM | 613571 | BTNT | validated | |
| ICD-10 | E25.0 | E | specific | validated |
| ICD-11 | 5A71.01 | E | specific | validated |
| MONDO | 0018479 | E | validated | |
| MONDO | 18479 | E | validated | |
| MeSH | D000312 | E | validated | |
| UMLS | C0001627 | E | validated | |
| GARD | 1467 | E | validated | |
| MedDRA | 10010323 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:181412Adrenogenital syndrome
rare genetic diseases; rare endocrine diseases - ORPHA:101960Genetic chronic primary adrenal insufficiency
rare genetic diseases; rare endocrine diseases - ORPHA:156643Genetic endocrine growth disease
rare genetic diseases - ORPHA:90692Rare endocrine growth disease
rare endocrine diseases
Children (7):
- ORPHA:63269Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
- ORPHA:90794Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- ORPHA:90795Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
- ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
- ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- ORPHA:90790Congenital lipoid adrenal hyperplasia due to STAR deficency
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
19 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-5 / 10 000 | 13.35 / 100 000 | Europe | Value and class | Validated | [EXPERT]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | 10 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2018[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 6.7 / 100 000 | Europe | Value and class | Not yet validated | 15964450[PMID]_15554889[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 8.6 / 100 000 | France | Value and class | Validated | 10079883[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 6.65 / 100 000 | Italy | Value and class | Not yet validated | 8784357[PMID]_15818055[PMID]_ ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 12.8 / 100 000 | Germany | Value and class | Validated | 20148377[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 10.2 / 100 000 | Sweden | Value and class | Validated | 9521977[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 5.6 / 100 000 | United Kingdom | Value and class | Not yet validated | 22241917[PMID]_3259306[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 7.65 / 100 000 | Netherlands | Value and class | Not yet validated | 15554889[PMID]_11731654[PMID]_ ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 4 / 100 000 | Belgium | Value and class | Validated | 15554889[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 9.3 / 100 000 | Switzerland | Value and class | Validated | 12213856[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 5.35 / 100 000 | Japan | Value and class | Not yet validated | 23330248[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 6.9 / 100 000 | New Zealand | Value and class | Validated | 3259306[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 6.3 / 100 000 | Cuba | Value and class | Validated | 23481450[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 6.7 / 100 000 | Taiwan, Province of China | Value and class | Validated | 12517042[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 38.8 / 100 000 | India | Value and class | Validated | 15053381[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4.8 / 100 000 | United States | Value and class | Not yet validated | 21641615[PMID]_15964450[PMID]_22766612[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.36 / 100 000 | China | Value and class | Validated | 34103049[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 7.98 / 100 000 | Czech Republic | Value and class | Validated | 31241292[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/418
- This record as JSON: /data/d/418.json