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DPYD

Synonyms
DHP, DHPDHASE, DPD, DYPD
External resources
Summary
The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. 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
39
Likely pathogenic
70
VUS
8,793
Likely benign
1,666
Benign
496

Patient phenotypes

Proportions of phenotypes among 105 patients carrying pathogenic or likely pathogenic variants on DPYD gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41%
Abnormality of the musculoskeletal system
35.2%
Abnormality of the eye
31.4%
Abnormality of head or neck
21%
Abnormality of the integument
15.2%
Growth abnormality
15.2%
Abnormality of limbs
13.3%
Abnormality of the ear
10.5%
Abnormality of the cardiovascular system
8.6%
Abnormality of the immune system
8.6%
Abnormality of the digestive system
6.7%
Abnormality of the endocrine system
6.7%
Abnormality of blood and blood-forming tissues
5.7%
Abnormality of the genitourinary system
5.7%
Abnormality of the respiratory system
5.7%
Neoplasm
4.8%
Constitutional symptom
2.9%
Abnormal cellular phenotype
1.9%
Abnormality of prenatal development or birth
1%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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