PAH, phenylalanine hydroxylase, 5053

N. diseases: 219; N. variants: 394
Disease: Microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.120 GeneticVariation disease BEFREE Phenylketonuria (PKU) is an inherited deficiency in the enzyme phenylalanine hydroxylase (PAH), which, when poorly-managed, is associated with clinical features including deficient growth, microcephaly, seizures, and intellectual impairment. 31331350 2019
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.120 Biomarker disease BEFREE In one family hyperphenylalaninemia was differentiated from classic PKU in two sisters with elevated blood P. In a second family maternal PKU was related to microcephaly in two retarded siblings, one of whom was also homozygous for classic PKU. 1127497 1975
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.120 Biomarker disease HPO