PHEX - Gene browser

PHEX

phosphate regulating endopeptidase X-linked

HCNC Approved Symbol: PHEX (HGNC:8918)
Genomic Coordinates: 23:22,032,325 - 22,251,310 (Xp22.11)
Synonyms: PEX, HPDR1, HYP1, XLH, HYP, HPDR
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

20Patients

In total, 20 patients were diagnosed with a variant in the PHEX gene.

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

020
Patient count

Hypophosphatemic rickets: 10 (50.0%)
Patient Count: 10 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
10 (50.0%)
Short stature: 4 (20.0%)
Patient Count: 4 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (20.0%)
Skeletal dysplasia: 3 (15.0%)
Patient Count: 3 (15.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (15.0%)
Rickets: 3 (15.0%)
Patient Count: 3 (15.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (15.0%)
Bow legs: 3 (15.0%)
Patient Count: 3 (15.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (15.0%)