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Dihydropteridine reductase deficiency
1 OMIM reference -
1 associated gene
11 connected diseases
3 signs/symptoms
Disease Type of connection
Apolipoprotein A-I deficiency
Familial renal amyloidosis due to Apolipoprotein AI variant
Leber congenital amaurosis
Primary systemic amyloidosis
Senior-Loken syndrome
Classical phenylketonuria
Maternal hyperphenylalaninemia
Mild hyperphenylalaninemia
Mild phenylketonuria
Pseudohypoaldosteronism type 2E
Tetrahydrobiopterin-responsive hyperphenylalaninemia / phenylketonuria
Synonym(s):
- Hyperphenylalaninemia due to dihydropteridine reductase deficiency
- PKU type 2
- Phenylketonuria type 2
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C537896
Gene symbol UniProt reference OMIM reference
QDPR P09417612676
Very frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Megaesophagus / cardiospasm / congenital dilation of the esophagus / achalasia
- Microcephaly