| H00258 | |
| H number | H00258 |
| 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 and metabolic disease |
| Network | nt06019(H00258) Steroid hormone biosynthesis |
| Gene | CYP11B2 [HSA:1585] [KO:K07433] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5A73 ICD-10: E27.4 I15.2 OMIM: 203400 610600 |
| Reference | PMID:15134805 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 PMID:11174838 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 PMID:10559665 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 |