All the information presented here about the CYP21A2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Symptoms // Phenotype | % Cases |
---|---|
Short stature | Uncommon - Between 30% and 50% cases |
Renal salt wasting | Uncommon - Between 30% and 50% cases |
Abnormality of the thorax | Uncommon - Between 30% and 50% cases |
Clitoral hypertrophy | Uncommon - Between 30% and 50% cases |
Adrenal insufficiency | Uncommon - Between 30% and 50% cases |
And 23 more phenotypes, you can get all of them using our tools for rare diseases.
Here you will find a list of rare diseases related to the CYP21A2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY Is also known as cyp21 deficiency, 21-hydroxylase deficiency, congenital adrenal hyperplasia 1, cah1, adrenal hyperplasia iii
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 (OMIM ), CYP17 (OMIM ), and ACTHR (OMIM ) 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.
SOURCES: OMIM
CLASSIC CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY, SALT WASTING FORM Is also known as classic 21-ohd cah, salt wasting form
The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency.
SOURCES: ORPHANET
CLASSIC CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY, SIMPLE VIRILIZING FORM Is also known as classic 21-ohd cah, simple virilizing form
The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting.
SOURCES: ORPHANET
By Athena Diagnostics Inc
This panel specifically test the CYP21A2 gene.
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