ORPHA:90794
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Synonyms: Classic 21-OHD CAH
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
- Status
- active
A form of congenital adrenal hyperplasia (CAH) characterized by simple virilizing or salt wasting forms that can manifest with abnormal genital development with variable levels of virilization in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenemia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | Classic 21-OHD CAH |
| fr | Hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique | HCS classique par 21-OHD |
| de | Nebennierenhyperplasie, kongenitale, durch 21-Hydroxylase-Mangel, klassische Form | Klassische 21-OHD CAH · Klassische kongenitale adrenale Hyperplasie durch 21-Hydroxylase-Mangel |
| es | Hiperplasia suprarrenal congénita clásica por deficiencia de 21-hidroxilasa | CAH 21-OHD clásica · HSC 21-OHD clásica |
| it | Iperplasia congenita classica del surrene da deficit di 21-idrossilasi | 21-OHD CAH classica |
| nl | Klassieke congenitale adrenale hyperplasie door deficiëntie van 21-hydroxylase | Klassieke 21-OHD CAH · Klassieke congenitale bijnierhyperplasie door deficiëntie van 21-hydroxylase |
| pt | Hiperplasia supra-renal congénita clássica por deficiência de 21-hidroxilase | 21-OHD CAH clássica |
| pl | Klasyczny wrodzony przerost nadnerczy spowodowany niedoborem 21-hydroksylazy | Klasyczny 21-OHD CAH |
| cs | Klasická vrozená adrenální hyperplázie způsobená deficitem 21-hydroxylázy | Klasická 21-OHD CAH |
| uk | Класична вроджена гіперплазія надниркових залоз внаслідок дефіциту 21-гідроксилази | Класичний 21-OHD АГС |
| zh | 21-羟化酶所致经典性先天性肾上腺皮质增生症 | 经典21-羟化酶缺乏所致先天性肾上腺皮质增生 |
| tr | 21-hidroksilaz eksikliğine bağlı klasik doğumsal adrenal hiperplazi | Klasik 21-OHD CAH |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 201910 | E | validated | |
| ICD-10 | E25.0 | NTBT | attributed | validated |
| ICD-11 | 5A71.01 | NTBT | index | validated |
| MONDO | 0008728 | E | validated | |
| UMLS | C4273964 | E | validated | |
| GARD | 12665 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- 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 - ORPHA:400018Rare female infertility due to adrenal disorder of genetic origin
rare genetic diseases - ORPHA:399849Rare female infertility due to an adrenal disorder
rare infertility disorders - ORPHA:399584Rare male infertility due to adrenal disorder
rare infertility disorders - ORPHA:399994Rare male infertility due to adrenal disorder of genetic origin
rare genetic diseases
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Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| CYP21A2 | ORPHA:315306Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form | Disease-causing germline mutation(s) in | Assessed | HGNC:2600 | ENSG00000231852 | 613815 | 6p21.33 | cytochrome P450 family 21 subfamily A member 2 | |
| CYP21A2 | ORPHA:315311Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form | Disease-causing germline mutation(s) in | Assessed | HGNC:2600 | ENSG00000231852 | 613815 | 6p21.33 | cytochrome P450 family 21 subfamily A member 2 |
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Prevalence and incidence
11 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 7 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 7 / 100 000 | Worldwide | Value and class | Not yet validated | 3259306[PMID]_15964450[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 6.4 / 100 000 | France | Value and class | Validated | 22312171[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 9.2 / 100 000 | Italy | Value and class | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 8.7 / 100 000 | Sweden | Value and class | Validated | 2321478[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 6.2 / 100 000 | United States | Value and class | Validated | 9521938[PMID]_22692165[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4.2 / 100 000 | New Zealand | Value and class | Validated | 7815200[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 6.4 / 100 000 | Croatia | Value and class | Validated | 19844117[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 6.2 / 100 000 | Estonia | Value and class | Validated | 18204270[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4.5 / 100 000 | Singapore | Value and class | Validated | 12008686[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 6.5 / 100 000 | Switzerland | Value and class | Validated | 6967865[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.
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HPO phenotypes
56 annotations · validated 2021-04-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0031074 | Abnormal response to ACTH stimulation test | |
| HP:0008163 | Decreased circulating cortisol level | |
| HP:0031213 | Elevated circulating 17-hydroxyprogesterone | |
| HP:0030348 | Increased circulating androgen concentration | |
| HP:0031216 | Increased circulating progesterone | |
| Frequent (79-30%) | ||
| HP:0000811 | Abnormal external genitalia | |
| HP:0031066 | Abnormal ovarian physiology | |
| HP:0500022 | Abnormal serum dehydroepiandrosterone level | |
| HP:0000140 | Abnormality of the menstrual cycle | |
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0001061 | Acne | |
| HP:0008665 | Clitoral hypertrophy | |
| HP:0004319 | Decreased circulating aldosterone level | |
| HP:0000144 | Decreased fertility | |
| HP:0001944 | Dehydration | |
| HP:0003639 | Elevated urinary epinephrine | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001507 | Growth abnormality | |
| HP:0001007 | Hirsutism | |
| HP:0000841 | Hyperactive renin-angiotensin system | |
| HP:0002153 | Hyperkalemia | |
| HP:0005976 | Hyperkalemic metabolic acidosis | |
| HP:0012605 | Hypernatriuria | |
| HP:0012417 | Hypocapnia | |
| HP:0003113 | Hypochloremia | |
| HP:0002902 | Hyponatremia | |
| HP:0002615 | Hypotension | |
| HP:0011106 | Hypovolemia | |
| HP:0003154 | Increased circulating ACTH level | |
| HP:0025380 | Increased circulating androstenedione concentration | |
| HP:0030088 | Increased serum testosterone level | |
| HP:0001998 | Neonatal hypoglycemia | |
| HP:0000876 | Oligomenorrhea | |
| HP:0004012 | Premature fusion of the radial epiphyseal plates | |
| HP:0012411 | Premature pubarche | |
| HP:0008207 | Primary adrenal insufficiency | |
| HP:0000127 | Renal salt wasting | |
| HP:0004322 | Short stature | |
| HP:0002013 | Vomiting | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0000062 | Ambiguous genitalia | |
| HP:0000061 | Ambiguous genitalia, female | |
| HP:0000151 | Aplasia of the uterus | |
| HP:0008734 | Decreased testicular size | |
| HP:0002292 | Frontal balding | |
| HP:0025486 | Fused labia majora | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0000040 | Long penis | |
| HP:0010465 | Precocious puberty in females | |
| HP:0012412 | Premature adrenarche | |
| HP:0031273 | Shock | |
| HP:0005268 | Spontaneous abortion | |
| HP:0000098 | Tall stature | |
| HP:0025451 | Testicular adrenal rest tumor | |
| HP:0100779 | Urogenital sinus anomaly | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 32966723[PMID]_20301350[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90794
- This record as JSON: /data/d/90794.json