PTS, 6-pyruvoyltetrahydropterin synthase, 5805

N. diseases: 89; N. variants: 40
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.900 CausalMutation disease CLINVAR [Mutation analysis and one novel mutation detection of 6-pyruvoyl tetrahydropterin synthase gene in children with tetrahydrobiopterin deficiency]. 18505119 2008
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.900 GeneticVariation disease CLINVAR Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. 16917893 2006
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.900 CausalMutation disease CLINVAR [Detection of the prevalent mutations of 6-pyruvoyl-tetrahydropterin synthase gene by PCR-RFLP analysis in Chinese patients]. 17160954 2006
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.900 CausalMutation disease CLINVAR Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. 16917893 2006
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.900 Biomarker disease MGD Dwarfism and low insulin-like growth factor-1 due to dopamine depletion in Pts-/- mice rescued by feeding neurotransmitter precursors and H4-biopterin. 12734191 2003
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.900 CausalMutation disease CLINVAR Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency. 11388593 2001
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.900 GeneticVariation disease CLINVAR Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency. 11388593 2001
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.900 CausalMutation disease CLINVAR Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. 11438997 2001
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.900 GeneticVariation disease UNIPROT Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency. 11388593 2001
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.900 CausalMutation disease CLINVAR Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese. 11694255 2001
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.900 Biomarker disease CLINGEN Catecholamines and serotonin are differently regulated by tetrahydrobiopterin. A study from 6-pyruvoyltetrahydropterin synthase knockout mice. 11517215 2001
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.900 Biomarker disease MGD Catecholamines and serotonin are differently regulated by tetrahydrobiopterin. A study from 6-pyruvoyltetrahydropterin synthase knockout mice. 11517215 2001
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.900 GeneticVariation disease CLINVAR Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese. 11694255 2001
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.900 CausalMutation disease CLINVAR Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations. 11916314 2001
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.900 GeneticVariation disease UNIPROT Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS. 10874306 2000
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.900 GeneticVariation disease UNIPROT Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia. 10220141 1999
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.900 GeneticVariation disease UNIPROT Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II. 10531334 1999
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.900 GeneticVariation disease CLINVAR Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia. 10585341 1999
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.900 CausalMutation disease CLINVAR Molecular characterization of 6-pyruvoyl-tetrahydropterin synthase deficiency in Japanese patients. 10319579 1999
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.900 GeneticVariation disease UNIPROT Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia. 10585341 1999
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.900 GeneticVariation disease UNIPROT Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. 9450907 1998
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.900 GeneticVariation disease CLINVAR Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. 9450907 1998
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.900 CausalMutation disease CLINVAR Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. 9450907 1998
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.900 Biomarker disease GENOMICS_ENGLAND Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. 9450907 1998
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.900 GeneticVariation disease UNIPROT Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families. 9222757 1997