Details of Disease | DrugMAP

General Information of Disease (ID: DISS326Y)

Disease Name	Mild phenylketonuria
Synonyms	mild PKU; variant phenylketonuria; mPKU; variant PKU
Definition	Mild phenylketonuria is a rare form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity.
Disease Hierarchy	DISCU56J: Phenylketonuria DISS326Y: Mild phenylketonuria
Disease Identifiers	MONDO ID MONDO_0019258 UMLS CUI C5680203 MedGen ID 1842357 Orphanet ID 79253

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PAH	TTGSVH2	Supportive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PAH	OT6GT2K8	Supportive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Phenylalanine Hydroxylase Deficiency. 2000 Jan 10 [updated 2017 Jan 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.