ORPHA:90795
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Synonyms: CAH due to 11-beta-hydroxylase deficiency · CYP11B1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare form of classic congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | CAH due to 11-beta-hydroxylase deficiency · CYP11B1 deficiency |
| fr | Hyperplasie congénitale des surrénales par déficit en 11-bêta-hydroxylase | Déficit en CYP11B1 · HCS par déficit en 11-bêta-hydroxylase |
| de | Nebennierenhyperplasie, kongenitale, durch 11-beta-Hydroxylase-Mangel | CAH durch 11-beta-Hydroxylase-Mangel · CYP11B1-Mangel · Kongenitale adrenale Hyperplasie durch 11-beta-Hydroxylase-Mangel |
| es | Hiperplasia suprarrenal congénita por deficiencia de 11-beta-hidroxilasa | CAH por deficiencia de 11-beta-hidroxilasa · Deficiencia de CYP11B1 |
| it | Iperplasia congenita del surrene da deficit di 11-beta-idrossilasi | CAH da deficit di 11-beta-idrossilasi · Deficit di CYP11B1 |
| nl | Congenitale adrenale hyperplasie door deficiëntie van 11-bèta-hydroxylase | CAH door deficiëntie van 11-bèta-hydroxylase · CYP11B1-deficiëntie · Congenitale bijnierhyperplasie door deficiëntie van 11-bèta-hydroxylase |
| pt | Hiperplasia supra-renal congénita por deficiência de 11-beta-hidroxilase | CAH por deficiência de 11-beta-hidroxilase · Deficiência de CYP11B1 |
| pl | Wrodzony przerost nadnerczy spowodowany niedoborem 11-beta-hydroksylazy | CAH spowodowany niedoborem 11-beta-hydroksylazy · Niedobór CYP11B1 |
| cs | Vrozená adrenální hyperplázie způsobená deficitem 11-beta-hydroxylázy | Deficit CYP11B1 · CAH způsobená deficitem 11-beta-hydroxylázy |
| uk | Вроджена гіперплазія надниркових залоз внаслідок дефіциту 11-бета-гідроксилази | АГС внаслідок дефіциту 11-бета-гідроксилази · Дефіцит CYP11B1 |
| zh | 11-β-羟化酶缺乏所致先天性肾上腺皮质增生症 | 类固醇11β-羟化酶缺乏所致先天性肾上腺皮质增生 |
| tr | 11-beta-hidroksilaz eksikliğine bağlı doğumsal adrenal hiperplazi | CYP11B1 eksikliği · 11-beta-hidroksilaz eksikliğine bağlı CAH |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 202010 | E | validated | |
| ICD-10 | E25.0 | NTBT | attributed | validated |
| ICD-11 | 5A71.01 | NTBT | index | validated |
| MONDO | 0008729 | E | validated | |
| MeSH | C535978 | E | validated | |
| UMLS | C0268292 | E | validated | |
| GARD | 5658 | E | validated | |
| MedDRA | 10000002 | 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 (2):
- ORPHA:9077646,XX difference of sex development induced by fetal androgens excess
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases; rare gynecological and obstetric diseases - ORPHA:418Congenital adrenal hyperplasia
rare genetic diseases; rare endocrine diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CYP11B1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2591 | ENSG00000160882 | 610613 | 8q24.3 | cytochrome P450 family 11 subfamily B member 1 |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.75 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | 0.47 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
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
32 annotations · validated 2021-04-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0008163 | Decreased circulating cortisol level | |
| HP:0003351 | Decreased circulating renin concentration | |
| HP:0031213 | Elevated circulating 17-hydroxyprogesterone | |
| HP:0001507 | Growth abnormality | |
| HP:0000822 | Hypertension | |
| HP:0002900 | Hypokalemia | |
| HP:0030348 | Increased circulating androgen concentration | |
| HP:0025380 | Increased circulating androstenedione concentration | |
| HP:0032330 | Increased urinary 11-deoxycorticosterone level | |
| Frequent (79-30%) | ||
| HP:0001061 | Acne | |
| HP:0000061 | Ambiguous genitalia, female | |
| HP:0008665 | Clitoral hypertrophy | |
| HP:0001007 | Hirsutism | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0003154 | Increased circulating ACTH level | |
| HP:0000858 | Irregular menstruation | |
| HP:0008236 | Isosexual precocious puberty | |
| HP:0000040 | Long penis | |
| HP:0000826 | Precocious puberty | |
| HP:0012412 | Premature adrenarche | |
| HP:0012411 | Premature pubarche | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0001596 | Alopecia | |
| HP:0000771 | Gynecomastia | |
| HP:0030088 | Increased serum testosterone level | |
| HP:0000147 | Polycystic ovaries | |
| HP:0000127 | Renal salt wasting | |
| HP:0025451 | Testicular adrenal rest tumor | |
| Very rare (<4-1%) | ||
| HP:0002170 | Intracranial hemorrhage | |
| HP:0010314 | Premature thelarche | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 27928728[PMID]_28228528[PMID]_24741421[PMID]_33708317[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90795
- This record as JSON: /data/d/90795.json