H00216 | |
H number | H00216 |
Name | Congenital adrenal hyperplasia |
Description | Congenital adrenal hyperplasia (CAH) is a group of monogenic autosomal recessive disorders due to an enzyme deficiency in steroid biosynthesis. All the adrenal hyperplasia syndromes are examples of mixed hypo- and hyperadrenocorticism. |
Category | Endocrine and metabolic disease |
Network | nt06019 Steroid hormone biosynthesis |
Gene | STAR [HSA:6770] [KO:K16931] HSD3B2 [HSA:3284] [KO:K00070] CYP21A2 [HSA:1589] [KO:K00513] CYP11B1 [HSA:1584] [KO:K00497] CYP17A1 [HSA:1586] [KO:K00512] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | Triamcinolone acetonide [DR:D00983] Dexamethasone [DR:D00292] Dexamethasone sodium phosphate [DR:D00975] Prednisolone [DR:D00472] Prednisolone sodium phosphate [DR:D00981] Prednisone [DR:D00473] Methylprednisolone [DR:D00407] Methylprednisolone sodium succinate [DR:D00751] Methylprednisolone acetate [DR:D00979] Cortisone acetate [DR:D00973] |
Comment | - |
Other DBs | ICD-11: 5A71.01 ICD-10: E25.0 MeSH: D000312 OMIM: 201710 201810 201910 202010 202110 |
Reference | PMID:18844712 AUTHORS Demirci C, Witchel SF TITLE Congenital adrenal hyperplasia. JOURNAL Dermatol Ther 21:340-53 (2008) DOI:10.1111/j.1529-8019.2008.00216.x PMID:18574213 AUTHORS Lin-Su K, Nimkarn S, New MI TITLE Congenital adrenal hyperplasia in adolescents: diagnosis and management. JOURNAL Ann N Y Acad Sci 1135:95-8 (2008) DOI:10.1196/annals.1429.021 PMID:15554890 AUTHORS Charmandari E, Brook CG, Hindmarsh PC TITLE Classic congenital adrenal hyperplasia and puberty. JOURNAL Eur J Endocrinol 151 Suppl 3:U77-82 (2004) DOI:10.1530/eje.0.151U077 PMID:12930931 AUTHORS Speiser PW, White PC TITLE Congenital adrenal hyperplasia. JOURNAL N Engl J Med 349:776-88 (2003) DOI:10.1056/NEJMra021561 PMID:16906539 AUTHORS Williamson L, Arlt W, Shackleton C, Kelley RI, Braddock SR TITLE Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency. JOURNAL Am J Med Genet A 140A:1797-803 (2006) DOI:10.1002/ajmg.a.31385 |