Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency

Preferred Label : Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency;

CISMeF acronym : CAH1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Adrenal hyperplasia III; 21-hydroxylase deficiency; Cyp21 deficiency; Congenital adrenal hyperplasia 1; CAH1;

Included titles and symbols : Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency;

Description : Congenital adrenal hyperplasia (CAH) results from a deficiency in one or another of the enzymes of cortisol biosynthesis. In about 95% of cases, 21-hydroxylation is impaired in the zona fasciculata of the adrenal cortex so that 17-hydroxyprogesterone (17-OHP) is not converted to 11-deoxycortisol. Because of defective cortisol synthesis, ACTH levels increase, resulting in overproduction and accumulation of cortisol precursors, particularly 17-OHP, proximal to the block. This causes excessive production of androgens, resulting in virilization. Slominski et al. (1996) presented evidence that the CYP21A2, CYP11A1 (118485), CYP17 (609300), and ACTHR (202200) genes are expressed in skin (see 202200). The authors suggested that expression of these genes may play a role in skin physiology and pathology and that cutaneous proopiomelanocortin activity may be autoregulated by a feedback mechanism involving glucocorticoids synthesized locally.;

Inheritance : Autosomal recessive;

Prefixed ID : #201910;

Details

Origin ID

201910;

UMLS CUI

C2936858;

Automatic exact mappings (from CISMeF team)
- CYP21A2 wt Allele [NCIt concept]
- Congenital Adrenal Hyperplasia [NCIt concept]
- Congenital adrenogenital disorders associated with enzyme deficiency [ICD-10 Sub-category]
- Deficiency of steroid 21-monooxygenase (disorder) [SNOMED CT concept]
- Hyperandrogenism due to non-classic type of 21-hydroxylase deficiency (disorder) [SNOMED CT concept]
- cytochrome P450 family 21 subfamily A member 2 [ORDO Gene]
- hyperandrogenism, nonclassic type, due to 21-Hydroxylase deficiency [MeSH Supplementary Concept]
- hyperandrogenism, nonclassic type, due to 21-Hydroxylase deficiency [MeSH concept]
Broader ORDO disease(s)
- Congenital adrenal hyperplasia [ORDO Disease]
Currated CISMeF NLP mapping
- 21-Hydroxylase Deficiency [NCIt concept]
- 21-hydroxylase deficiency [MedDRA Preferred Term]
- Adrenal Gland Hyperplasia III [NCIt concept]
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency [ORDO Disease]
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) [SNOMED CT concept]
- Congenital adrenal hyperplasia due to 21 hydroxylase deficiency [MeSH concept]
- Congenital adrenal hyperplasia due to 21-hydroxylase deficiency [ICD-11 More detail]
- congenital adrenal hyperplasia 1 [Disease (Nov.)]
- congenital adrenal hyperplasia due to 21 hydroxylase deficiency [MeSH Supplementary Concept]
- steroid 21-monooxygenase deficiency, simple virilizing type [SNOMED Notion]
DO Cross reference
- congenital adrenal hyperplasia [DO Concept]
Genes related to phenotype
- Cytochrome p450, family 21, subfamily a, polypeptide 2 [OMIM gene]
HPO term(s)
- Abnormal thorax morphology [HPO term]
- Adrenal hyperplasia [HPO term]
- Adrenogenital syndrome [HPO term]
- Autosomal recessive inheritance [HPO term]
- Fever [HPO term]
- Growth abnormality [HPO term]
- Gynecomastia [HPO term]
- Hypertension [HPO term]
- Hypoglycemia [HPO term]
- Hypospadias [HPO term]
- Recurrent fever [HPO term]
- Renal salt wasting [HPO term]
ORDO concept(s)
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency [ORDO Disease]
- Congenital adrenal hyperplasia [ORDO Disease]
- Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adrenal Gland Hyperplasia III [NCIt concept]
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency [ORDO Disease]
- Congenital adrenal hyperplasia due to 21 hydroxylase deficiency [MeSH concept]
- Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency [ORDO Disease]
- congenital adrenal hyperplasia due to 21 hydroxylase deficiency [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency [ORDO Disease]
- nonclassical 21 hydroxylase deficiency [Disease (Nov.)]
Validated automatic mappings to NTBT
- Congenital adrenal hyperplasia [ORDO Disease]

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