PAH, phenylalanine hydroxylase, 5053

N. diseases: 219; N. variants: 394
Disease: Hyperphenylalaninemia, Non-Phenylketonuric ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751436
Disease: Hyperphenylalaninemia, Non-Phenylketonuric
Hyperphenylalaninemia, Non-Phenylketonuric 		0.320 GeneticVariation disease BEFREE Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU) which is caused by mutations in the phenylalanine hydroxylase (PAH) gene, and BH4 deficiency caused by alterations in genes involved in tetrahydrobiopterin (BH4) biosynthesis pathway. 28915855 2017
CUI: C0751436
Disease: Hyperphenylalaninemia, Non-Phenylketonuric
Hyperphenylalaninemia, Non-Phenylketonuric 		0.320 AlteredExpression disease BEFREE It is concluded that "peripheral" tetrahydrobiopterin deficiency is caused by a partial PTS deficiency with sufficient activity to cover the tetrahydrobiopterin requirement of tyrosine 3-hydroxylase and trytophan 5-hydroxylase in brain but not enough for phenylalanine 4-hydroxylase in liver. 3297709 1987
CUI: C0751436
Disease: Hyperphenylalaninemia, Non-Phenylketonuric
Hyperphenylalaninemia, Non-Phenylketonuric 		0.320 Biomarker disease CTD_human