×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
GeneticVariation
disease
CLINVAR
"""Peripheral"" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity."
3297709
1987
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
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
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
GeneticVariation
disease
CLINVAR
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency.
20059486
2010
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
GeneticVariation
disease
CLINVAR
Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.
22237589
2012
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
CausalMutation
disease
CLINVAR
Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.
22237589
2012
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
GeneticVariation
disease
UNIPROT
Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.
9222757
1997
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
GeneticVariation
disease
UNIPROT
A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia.
7698774
1994
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
GeneticVariation
disease
UNIPROT
Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.
9450907
1998
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
CausalMutation
disease
CLINVAR
Phenylketonuria in Hong Kong Chinese: a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China.
21933604
2011
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
Biomarker
disease
CLINGEN
Disorders of biopterin metabolism.
19234759
2009
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
Biomarker
disease
CLINGEN
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency.
20059486
2010
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
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
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
GeneticVariation
disease
UNIPROT
6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study.
9159737
1997
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
CausalMutation
disease
CLINVAR
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.
23942198
2014
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
Biomarker
disease
CLINGEN
Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail.
19280650
2009
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
CausalMutation
disease
CLINVAR
Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.
9222757
1997
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
CausalMutation
disease
CLINVAR
Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency.
8707300
1996
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
GeneticVariation
disease
CLINVAR
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.
23942198
2014
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
Biomarker
disease
GENOMICS_ENGLAND
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders.
27830117
2016
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
CausalMutation
disease
CLINVAR
Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study.
23138986
2013
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
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
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
CausalMutation
disease
CLINVAR
Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.
27246466
2017
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
GeneticVariation
disease
CLINVAR
Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity.
7493990
1995
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
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
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
GeneticVariation
disease
CLINVAR
Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.
27246466
2017