CYP11B1 - Gene browser

CYP11B1

cytochrome P450 family 11 subfamily B member 1

HCNC Approved Symbol: CYP11B1 (HGNC:2591)
Genomic Coordinates: 8:142,872,357 - 142,879,825 (8q24.3)
Synonyms: P450C11, FHI, CPN1, CYP11B
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

19Patients

In total, 19 patients were diagnosed with a variant in the CYP11B1 gene.

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

019
Patient count

Elevated 17-hydroxyprogesterone: 14 (73.7%)
Patient Count: 14 (73.7%)
% of total patients presenting each phenotype is shown in parentheses.
14 (73.7%)
Ambiguous genitalia: 10 (52.6%)
Patient Count: 10 (52.6%)
% of total patients presenting each phenotype is shown in parentheses.
10 (52.6%)
Hyponatremia: 6 (31.6%)
Patient Count: 6 (31.6%)
% of total patients presenting each phenotype is shown in parentheses.
6 (31.6%)
Male precocious puberty: 5 (26.3%)
Patient Count: 5 (26.3%)
% of total patients presenting each phenotype is shown in parentheses.
5 (26.3%)
Hyperkalemia: 4 (21.1%)
Patient Count: 4 (21.1%)
% of total patients presenting each phenotype is shown in parentheses.
4 (21.1%)