CYP11A1

CYP11A1

cytochrome P450 family 11 subfamily A member 1

HCNC Approved Symbol: CYP11A1 (HGNC:2590)
Genomic Coordinates: 15:74,337,762 - 74,367,646 (15q24.1)
Synonyms: P450SCC, CYP11A
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

3billion 유전진단 검사 알아보기

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the CYP11A1 gene.

Frequently observed phenotypes(Top 5 only)

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

01
Patient count

Glutaric aciduria: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Hypoglycemia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Ketotic hypoglycemia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Lactic acidosis: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30