Dihydropyrimidinase Deficiency (DPYSD)

Alias:
Dihydropyrimidinuria
Dpys Deficiency
Dph Deficiency
Dpysd
Dihydropyrimidinuria Due to Dpys Deficiency
Dihydrouracil Amidohydrolase Deficiency
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Dihydropyrimidinase Deficiency, also known as dihydropyrimidinuria, is related to dihydropyrimidine dehydrogenase deficiency and purine-pyrimidine metabolic disorder. An important gene associated with Dihydropyrimidinase Deficiency is DPYS (Dihydropyrimidinase), and among its related pathways/superpathways are Metabolism and Metabolism of nucleotides. Affiliated tissues include small intestine, and related phenotypes are abnormal pyramidal sign and delayed speech and language development
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
12
50
10

Medical Symptom

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

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top