CYP27B1 - Gene browser

CYP27B1

cytochrome P450 family 27 subfamily B member 1

HCNC Approved Symbol: CYP27B1 (HGNC:2606)
Genomic Coordinates: 12:57,762,334 - 57,767,078 (12q14.1)
Synonyms: CYP1, P450c1, VDD1, PDDR
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

14Patients

In total, 14 patients were diagnosed with a variant in the CYP27B1 gene.

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

014
Patient count

Rickets: 5 (35.7%)
Patient Count: 5 (35.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (35.7%)
Hypophosphatemia: 4 (28.6%)
Patient Count: 4 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
4 (28.6%)
Elevated alkaline phosphatase: 3 (21.4%)
Patient Count: 3 (21.4%)
% of total patients presenting each phenotype is shown in parentheses.
3 (21.4%)
Hypophosphatemic rickets: 3 (21.4%)
Patient Count: 3 (21.4%)
% of total patients presenting each phenotype is shown in parentheses.
3 (21.4%)
Motor delay: 3 (21.4%)
Patient Count: 3 (21.4%)
% of total patients presenting each phenotype is shown in parentheses.
3 (21.4%)