KEGG   DISEASE: Aldosterone synthase deficiencyHelp
Entry
H00258                      Disease                                

Name
Aldosterone synthase deficiency;
Corticosterone methyloxidase type I deficiency;
Corticosterone methyloxidase type II deficiency
Description
Aldosterone synthase deficiency is an autosomal recessive disorder caused by a defect in the final biochemical step of aldosterone biosynthesis, the 18-hydroxylation of 18-hydroxycorticosterone to aldosterone. This disease is characterized by life-threatening salt-loss, failure to thrive, hyponatraemia and hyperkalaemia in early infancy. In type I deficiency, aldosterone is undetectable, whereas in type II aldosterone can be low or normal.
Category
Endocrine disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hypertensive diseases
   H00258  Aldosterone synthase deficiency
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
    5A73  Hypoaldosteronism
     H00258  Aldosterone synthase deficiency
BRITE hierarchy
Pathway
hsa00140  Steroid hormone biosynthesis
Network
nt06019  Steroid hormone biosynthesis
  Element
N00774  CYP11B2 deficiency in steroid hormone biosynthesis
Gene
CYP11B2 [HSA:1585] [KO:K07433]
Other DBs
ICD-11: 5A73
ICD-10: E27.4 I15.2
OMIM: 203400 610600
Reference
  Authors
White PC
  Title
Aldosterone synthase deficiency and related disorders.
  Journal
Mol Cell Endocrinol 217:81-7 (2004)
DOI:10.1016/j.mce.2003.10.013
Reference
  Authors
Wasniewska M, De Luca F, Valenzise M, Lombardo F, De Luca F
  Title
Aldosterone synthase deficiency type I with no documented homozygous mutations in the CYP11B2 gene.
  Journal
Eur J Endocrinol 144:59-62 (2001)
DOI:10.1530/eje.0.1440059
Reference
  Authors
Peter M, Dubuis JM, Sippell WG
  Title
Disorders of the aldosterone synthase and steroid 11beta-hydroxylase deficiencies.
  Journal
Horm Res 51:211-22 (1999)
DOI:10.1159/000023374
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