OTC, ornithine carbamoyltransferase, 5009

N. diseases: 135; N. variants: 142
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		1.000 AlteredExpression disease 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
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		1.000 GeneticVariation disease 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
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		1.000 GeneticVariation disease 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
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		1.000 GeneticVariation disease 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
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		1.000 GeneticVariation disease BEFREE Gene Mutation Analysis and Prenatal Diagnosis of the Ornithine Transcarbamylase (OTC) Gene in Two Families with Ornithine Transcarbamylase Deficiency. 30333473 2018
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		1.000 CausalMutation disease CLINVAR Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency. 28266016 2017
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		1.000 Biomarker disease BEFREE AAV gene therapy corrects OTC deficiency and prevents liver fibrosis in aged OTC-knock out heterozygous mice. 28283349 2017
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		1.000 AlteredExpression disease 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
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		1.000 CausalMutation disease CLINVAR Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD). 27070778 2016
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		1.000 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		1.000 Biomarker disease 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
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		1.000 GeneticVariation disease BEFREE Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency. 25994866 2015
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		1.000 GeneticVariation disease BEFREE This novel mutation in the OTC gene is responsible for the late-onset phenotype of OTC deficiency. 26446336 2015
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		1.000 GeneticVariation disease CLINVAR Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency. 25994866 2015
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		1.000 CausalMutation disease CLINVAR Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency. 25994866 2015
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		1.000 Biomarker disease CLINGEN Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update. 26059767 2015
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		1.000 GeneticVariation disease 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
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		1.000 Biomarker disease CLINGEN Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics. 24309898 2014
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		1.000 Biomarker disease BEFREE OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients. 25011434 2014
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		1.000 CausalMutation disease CLINVAR Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases. 25433810 2014
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		1.000 CausalMutation disease CLINVAR Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment. 25026867 2014
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		1.000 CausalMutation disease CLINVAR Magnetic resonance spectroscopy and molecular studies in ornithine transcarbamylase deficiency novel mutation c.802A>G in exon 8 (p.Met268Val). 23821427 2013
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		1.000 CausalMutation disease CLINVAR A case with combined rare inborn metabolic disorders: congenital adrenal hyperplasia and ornithine transcarbamylase deficiency. 23769969 2013
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		1.000 GeneticVariation disease 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
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		1.000 GeneticVariation disease CLINVAR Coagulopathy in patients with late-onset ornithine transcarbamylase deficiency in remission state: a previously unrecognized complication. 23209112 2013