×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
AlteredExpression
BEFREE
HMT delivery of human OTC mRNA normalizes plasma ammonia and urinary orotic acid levels, and leads to a prolonged survival benefit in the murine OTCD model.
29433939
2018
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
BEFREE
Mutations occurring close to the catalytic site of OTCase can cause severe OTCD phenotypes compared with those caused by mutations occurring on the surface of this protein.
30175132
2018
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
BEFREE
About 10%-15% of patients, clinically diagnosed with OTC deficiency (OTCD), lack identifiable mutations in the coding region or splice junctions of the OTC gene on routine molecular testing.
29282796
2018
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
BEFREE
Ornithine transcarbamylase deficiency (OTCD ) is an X-linked recessive disorder involving a defect in the urea cycle caused by OTC gene mutations.
30541480
2018
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
BEFREE
Gene Mutation Analysis and Prenatal Diagnosis of the Ornithine Transcarbamylase (OTC ) Gene in Two Families with Ornithine Transcarbamylase Deficiency .
30333473
2018
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
CausalMutation
CLINVAR
Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency.
28266016
2017
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
Biomarker
BEFREE
AAV gene therapy corrects OTC deficiency and prevents liver fibrosis in aged OTC -knock out heterozygous mice.
28283349
2017
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
AlteredExpression
BEFREE
LC-MS/MS assay of plasma OTC activity enabled the detection of all hemizygous and the majority of symptomatic heterozygous OTCD patients in the tested cohort.
28107167
2017
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
CausalMutation
CLINVAR
Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD).
27070778
2016
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
Biomarker
MGD
A new mouse model of mild ornithine transcarbamylase deficiency (spf-j) displays cerebral amino acid perturbations at baseline and upon systemic immune activation.
25647322
2015
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
BEFREE
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency .
25994866
2015
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
BEFREE
This novel mutation in the OTC gene is responsible for the late-onset phenotype of OTC deficiency .
26446336
2015
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
CLINVAR
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
25994866
2015
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
CausalMutation
CLINVAR
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
25994866
2015
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
Biomarker
CLINGEN
Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.
26059767
2015
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
BEFREE
The aim of this study was to provide clues for recognition of OTCD in adults and analyze the environmental factors that, interacting with OTC gene mutations, might have triggered acute clinical manifestations.
25026867
2014
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
Biomarker
CLINGEN
Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics.
24309898
2014
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
Biomarker
BEFREE
OTC gene in ornithine transcarbamylase deficiency : clinical course and mutational spectrum in seven Korean patients.
25011434
2014
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
CausalMutation
CLINVAR
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.
25433810
2014
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
CausalMutation
CLINVAR
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.
25026867
2014
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
CausalMutation
CLINVAR
Magnetic resonance spectroscopy and molecular studies in ornithine transcarbamylase deficiency novel mutation c.802A>G in exon 8 (p.Met268Val).
23821427
2013
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
CausalMutation
CLINVAR
A case with combined rare inborn metabolic disorders: congenital adrenal hyperplasia and ornithine transcarbamylase deficiency.
23769969
2013
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
BEFREE
A 66-year-old woman heterozygous for a mutation in the ornithine transcarbamylase gene (Otc) participated in a phase I gene therapy trial for OTC deficiency .
24010702
2013
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
CLINVAR
Coagulopathy in patients with late-onset ornithine transcarbamylase deficiency in remission state: a previously unrecognized complication.
23209112
2013