KEGG   DISEASE: Congenital adrenal hyperplasiaHelp
Entry
H00216                      Disease                                

Name
Congenital adrenal hyperplasia
  Subgroup
Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete [DS:H02314]
Disordered steroidogenesis due to cytochrome P450 oxidoreductase [DS:H02315]
  Supergrp
46,XY disorder of sex development due to testosterone secretion defect [DS:H00608]
Male hypogonadism [DS:H02027]
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 diseases
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Adrenal gland diseases
   H00216  Congenital adrenal hyperplasia
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the adrenal glands or adrenal hormone system
    5A71  Adrenogenital disorders
     H00216  Congenital adrenal hyperplasia
BRITE hierarchy
Pathway
hsa00140  Steroid hormone biosynthesis
Network
nt06314  Cortisol biosynthesis and metabolism
  Element
N00760  CYP11B1 deficiency in steroid hormone biosynthesis
N00761  CYP21A2 deficiency in steroid hormone biosynthesis
N00762  CYP17A1 deficiency in steroid hormone biosynthesis
N00763  HSD3B2 deficiency in 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]
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]
Other DBs
ICD-11: 5A71.01
ICD-10: E25.0
MeSH: D000312
OMIM: 201710 201810 201910 202010 202110
Reference
  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
Reference
  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
Reference
  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
Reference
  Authors
Speiser PW, White PC
  Title
Congenital adrenal hyperplasia.
  Journal
N Engl J Med 349:776-88 (2003)
DOI:10.1056/NEJMra021561
Reference
  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
LinkDB All DBs

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