Log In|Sign Up
ENHyperphenylalaninemia, Bh4-Deficient, C (HPABH4C)
Alias:
Dihydropteridine Reductase Deficiency
Hyperphenylalaninemia Due to Dihydropteridine Reductase Deficiency
Quinoid Dihydropteridine Reductase Deficiency
Phenylketonuria Type 2
Dhpr Deficiency
Qdpr Deficiency
Pku Type 2
Hpabh4c
Tetrahydrobiopterin -Deficient Hyperphenylalaninemia Due to Dihydropteridine Reductase Deficiency
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Dhpr Deficiency
Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due to Dhpr Deficiency
Hyperphenylalaninemia, Bh4-Deficient, Type C
Bh4-Deficient Hyperphenylalaninemia C
Phenylketonuria Type Ii
Phenylketonuria Ii
Favorite
Hyperphenylalaninemia, Bh4-Deficient, C, also known as dihydropteridine reductase deficiency, is related to hyperphenylalaninemia and phenylketonuria, and has symptoms including seizures and tremor. An important gene associated with Hyperphenylalaninemia, Bh4-Deficient, C is QDPR (Quinoid Dihydropteridine Reductase). Affiliated tissues include heart and skin, and related phenotypes are intellectual disability and dysphagia
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
