HPD - Gene browser | 3billion

HPD

HPD

4-hydroxyphenylpyruvate dioxygenase

HCNC Approved Symbol: HPD (HGNC:5147)
Genomic Coordinates: 12:121,839,527 - 121,888,611 (12q24.31)
Synonyms: 4-HPPD, 4HPPD, GLOD3, HPPD, PPD
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the HPD gene.

Frequently observed phenotypes(Top 5 only)

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

02
Patient count

Cerebral palsy: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Hypertyrosinemia: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)

Last updated: 2024-06-30

HPD - Gene browser | 3billion