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Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
1 associated gene
7 connected diseases
No signs/symptoms info
Disease Type of connection
Classical phenylketonuria
Maternal hyperphenylalaninemia
Mild hyperphenylalaninemia
Mild phenylketonuria
Blackfan-Diamond anemia
Dehydratase deficiency
Dihydropteridine reductase deficiency
Synonym(s):
- BH4-responsive HPA/PKU
- BH4-responsive hyperphenylalaninemia/phenylketonuria
- Tetrahydrobiopterin-responsive HPA/PKU
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: -
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
PAH P00439612349
No signs/symptoms info available.