Details of Disease | DrugMAP

General Information of Disease (ID: DIS9NTZ6)

Disease Name	Mild hyperphenylalaninemia
Synonyms	mild HPA; non-PKU HPA; mHPA
Definition	Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA.
Disease Hierarchy	DISCU56J: Phenylketonuria DIS9NTZ6: Mild hyperphenylalaninemia
Disease Identifiers	MONDO ID MONDO_0019335 UMLS CUI C5680207 MedGen ID 1843033 Orphanet ID 79651

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]
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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]
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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.