KEGG   DISEASE: Adrenal hypoplasia congenitaHelp
Entry
H01772                      Disease                                

Name
Adrenal hypoplasia congenita
  Subgroup
X-linked adrenal hypoplasia congenita
Autosomal recessive adrenal hypoplasia congenita
IMAGe syndrome
Description
Adrenal hypoplasia congenita (AHC) is an inherited disorder of the adrenal cortex commonly manifested as an early onset adrenal insufficiency syndrome. AHC includes X-linked form, a rare autosomal recessive form, and IMAGe syndrome. If untreated with glucocorticoids and mineralocorticoids, adrenal insufficiency is rapidly lethal as a result of hyperkalemia, acidosis, hypoglycemia, and shock. A constant feature of the X-linked AHC is the association with hypogonadotropic hypogonadism (HHG). Affected males typically have delayed puberty or arrested puberty caused by HHG. Mutations in the DAX-1 (NR0B1) gene are responsible for X-linked AHC. Autosomal recessive AHC is caused by mutations in SF-1 (NR5A1) gene. However, disruption of SF-1 only rarely causes adrenal insufficiency, usually in combination with testicular dysgenesis. IMAGe syndrome (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies) is an autosomal dominant undergrowth developmental disorder with life-threatening consequences and caused by mutations in CDKN1C.
Category
Endocrine and metabolic disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Adrenal gland diseases
   H01772  Adrenal hypoplasia congenita
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the adrenal glands
    LC80  Congenital adrenal hypoplasia
     H01772  Adrenal hypoplasia congenita
BRITE hierarchy
Network
N00307  Mutation-inactivated DAX1 to SF-1-mediated transcription
N00308  Mutation-inactivated SF-1 to transcription
Gene
DAX1 [HSA:190] [KO:K08562]
NR5A1 [HSA:2516] [KO:K08560]
CDKN1C [HSA:1028] [KO:K09993]
Comment
See also H01598 Addison's disease.
Other DBs
ICD-11: LC80
ICD-10: E27.4
MeSH: C536757 C564543
OMIM: 300200 614732
Reference
  Authors
Lehmann SG, Lalli E, Sassone-Corsi P
  Title
X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein.
  Journal
Proc Natl Acad Sci U S A 99:8225-30 (2002)
DOI:10.1073/pnas.122044099
Reference
  Authors
Suntharalingham JP, Buonocore F, Duncan AJ, Achermann JC
  Title
DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.
  Journal
Best Pract Res Clin Endocrinol Metab 29:607-19 (2015)
DOI:10.1016/j.beem.2015.07.004
Reference
  Authors
Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Delot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergada I, Dell'Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E
  Title
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
  Journal
Nat Genet 44:788-92 (2012)
DOI:10.1038/ng.2275
Reference
PMID:20301604 (drug)
  Authors
Achermann JC, Vilain EJ
  Title
X-Linked Adrenal Hypoplasia Congenita
  Journal
GeneReviews (1993)
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