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DPYS

Synonyms
DHP, DHPase
External resources
Summary
Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb transcript and a minor 3.8-kb transcript. Defects in the DPYS gene are linked to dihydropyrimidinuria.

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
45
Likely pathogenic
7
VUS
2,992
Likely benign
962
Benign
0

Patient phenotypes

Proportions of phenotypes among 52 patients carrying pathogenic or likely pathogenic variants on DPYS gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
40.4%
Abnormality of the nervous system
32.7%
Abnormality of head or neck
26.9%
Abnormality of the eye
26.9%
Abnormality of the ear
19.2%
Abnormality of limbs
17.3%
Abnormality of the cardiovascular system
15.4%
Abnormality of the digestive system
15.4%
Abnormality of the genitourinary system
15.4%
Growth abnormality
15.4%
Abnormality of the integument
5.8%
Abnormality of the immune system
3.8%
Abnormality of blood and blood-forming tissues
1.9%
Abnormality of prenatal development or birth
1.9%
Abnormality of the breast
1.9%
Abnormality of the endocrine system
1.9%
Abnormality of the respiratory system
1.9%
Neoplasm
1.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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