familial hyperreninemic hypoaldosteronism type 2
MONDO:0011754Mondo
Findings
No curated finding names familial hyperreninemic hypoaldosteronism type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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
- Definitive · ClinGen · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
4 names
Resolves to: familial hyperreninemic hypoaldosteronism type 2
- Also called
- aldosterone synthase deficiency unrelated to CYP11B2aldosterone synthase deficiency unrelated to the aldosterone synthase geneFHHA2hyperreninemic hypoaldosteronism, familial, type 2