corticosterone methyloxidase type 2 deficiency
MONDO:0012524Mondo
Findings
No curated finding names corticosterone methyloxidase type 2 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating aldosterone concentrationHPOHP:0004319
- 1 of 1 reported patient
- HyperkalemiaHPOHP:0002153
- 1 of 1 reported patient
- HyponatremiaHPOHP:0002902
- 1 of 1 reported patient
- Increased circulating 18-hydroxycortisone levelHPOHP:0020200
- 1 of 1 reported patient
- Increased circulating corticosterone levelHPOHP:0032362
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- Growth delayHPOHP:0001510
- Renal salt wastingHPOHP:0000127
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CYP11B2HGNC:2592
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
Other names
1 name
Resolves to: corticosterone methyloxidase type 2 deficiency
- Also called
- hypoaldosteronism, congenital, due to CMO II deficiency