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Maternal hyperphenylalaninemia
1 OMIM reference -
1 associated gene
7 connected diseases
No signs/symptoms info
Disease Type of connection
Classical phenylketonuria
Mild hyperphenylalaninemia
Mild phenylketonuria
Tetrahydrobiopterin-responsive hyperphenylalaninemia / phenylketonuria
Blackfan-Diamond anemia
Dehydratase deficiency
Dihydropteridine reductase deficiency
Synonym(s):
- Hyperphenylalaninemic embryopathy
- Maternal PKU
- Maternal phenylketonuria
- Phenylketonuric embryopathy
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
- Rare teratologic disease
Classification (ICD10):
- Certain conditions originating in the perinatal period -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PAH P00439612349
No signs/symptoms info available.