CYP11B2 - Gene browser

CYP11B2

cytochrome P450 family 11 subfamily B member 2

HCNC Approved Symbol: CYP11B2 (HGNC:2592)
Genomic Coordinates: 8:142,910,559 - 142,917,843 (8q24.3)
Synonyms: CYP11BL, CPN2, P-450C18, P450aldo, ALDOS, CYP11B
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

9Patients

In total, 9 patients were diagnosed with a variant in the CYP11B2 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

09
Patient count

Hyponatremia: 7 (77.8%)
Patient Count: 7 (77.8%)
% of total patients presenting each phenotype is shown in parentheses.
7 (77.8%)
Hyperkalemia: 5 (55.6%)
Patient Count: 5 (55.6%)
% of total patients presenting each phenotype is shown in parentheses.
5 (55.6%)
Facial dysmorphic features are mild: 4 (44.4%)
Patient Count: 4 (44.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (44.4%)
Hypoaldosteronism: 4 (44.4%)
Patient Count: 4 (44.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (44.4%)
Failure to thrive: 3 (33.3%)
Patient Count: 3 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (33.3%)