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HPD

Synonyms
4-HPPD, 4HPPD, GLOD3, HPPDASE, PPD
External resources
Summary
The protein encoded by this gene is an enzyme in the catabolic pathway of tyrosine. The encoded protein catalyzes the conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in this gene are a cause of tyrosinemia type 3 (TYRO3) and hawkinsinuria (HAWK). Two transcript variants encoding different isoforms have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
14
Likely pathogenic
0
VUS
2,385
Likely benign
1,148
Benign
801

Patient phenotypes

Proportions of phenotypes among 14 patients carrying pathogenic or likely pathogenic variants on HPD gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
28.6%
Abnormality of the cardiovascular system
21.4%
Abnormality of the ear
14.3%
Abnormality of the musculoskeletal system
14.3%
Abnormality of head or neck
7.1%
Abnormality of the breast
7.1%
Abnormality of the digestive system
7.1%
Abnormality of the eye
7.1%
Abnormality of the immune system
7.1%
Abnormality of the integument
7.1%
Abnormality of the respiratory system
7.1%
Neoplasm
7.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%

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