Details of Disease | DrugMAP

General Information of Disease (ID: DISYYKL5)

Disease Name	BH4-deficient hyperphenylalaninemia A
Synonyms	hyperphenylalaninemia, BH4-deficient, A; hyperphenylalanemia, BH4-deficient, A; hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to PTS deficiency; hyperphenylalaninemia, Bh4-deficient, due to partial PTS deficiency; hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency; hyperphenylalaninemia, BH4-deficient, type A; PTS deficiency hyperphenylalaninemia, BH4-deficient, due to partial PTS deficiency, included; BH4-deficient hyperphenylalaninemia A; tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency; PTS deficiency; Bh4-deficient hyperphenylalaninemia type A; HPABH4A; 6-pyruvoyl tetrahydropterin synthase deficiency; hyperphenylalaninemia, BH4-deficient A; 6-pyruvoyl-tetrahydropterin synthase deficiency; hyperphenylalaninemia, Bh4-deficient, type a; hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
Definition	An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits.
Disease Hierarchy	DISCQU4G: Hyperphenylalaninemia DISYYKL5: BH4-deficient hyperphenylalaninemia A
Disease Identifiers	MONDO ID MONDO_0009863 MESH ID C535325 UMLS CUI C0878676 OMIM ID 261640 MedGen ID 209234 Orphanet ID 13 SNOMED CT ID 237914002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
SPR	DEJVDAT	Strong	Autosomal recessive	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SPR	OT1ROA8B	Strong	Autosomal recessive	[1]
PTS	OTTYWQXR	Definitive	Autosomal recessive	[2]
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References

1	Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum Mutat. 2006 Sep;27(9):870-8. doi: 10.1002/humu.20366.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.