Dihydropyrimidine Dehydrogenase Deficiency (DPYDD)

Alias:
Familial Pyrimidinemia
Dihydropyrimidinuria
Dpd Deficiency
Hereditary Thymine-Uraciluria
Dpyd Deficiency
Dpydd
Dihydrouracil Dehydrogenase Deficiency
Thymine-Uraciluria, Hereditary
Pyrimidinemia, Familial
5-Fluorouracil Toxicity
Familial Pyrimidinaemia
Pyrimidinemia Familial
Familial Pyrimidemia
Thymine-Uracilurea
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Dihydropyrimidine Dehydrogenase Deficiency, also known as familial pyrimidinemia, is related to dihydropyrimidinase deficiency and rectum cancer, and has symptoms including lethargy and seizures. An important gene associated with Dihydropyrimidine Dehydrogenase Deficiency is DPYD (Dihydropyrimidine Dehydrogenase), and among its related pathways/superpathways are Metabolism and Metapathway biotransformation Phase I and II. The drugs Capecitabine and Fluorouracil have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are uraciluria and reduced dihydropyrimidine dehydrogenase level
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
--
16
48
93

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
No data available

Related Drugs

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CAS Number
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Phase
No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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