TTC19, tetratricopeptide repeat domain 19, 54902

N. diseases: 78; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1852372
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) 		0.530 GeneticVariation disease BEFREE Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes: Expanding the Phenotype. 29961508 2018
CUI: C1852372
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) 		0.530 GeneticVariation disease BEFREE Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. 21278747 2011
CUI: C1852372
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) 		0.530 GeneticVariation disease BEFREE Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review. 25899669 2015
CUI: C3554605
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 		0.400 GeneticVariation disease CLINVAR
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.310 GeneticVariation group BEFREE TTC19 mutations constitute a rare cause of CIII deficiency and are associated with neurological disorders in childhood and adulthood. 25652355 2015
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.110 GeneticVariation phenotype BEFREE A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation. 25652355 2015
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
CUI: C0342778
Disease: Ubiquinone dehydrogenase deficiency
Ubiquinone dehydrogenase deficiency 		0.040 GeneticVariation disease BEFREE We reviewed the phenotypes and genotypes of all 11 patients with TTC19 mutations leading to complex III deficiency (including our case). 25899669 2015
CUI: C0342778
Disease: Ubiquinone dehydrogenase deficiency
Ubiquinone dehydrogenase deficiency 		0.040 GeneticVariation disease BEFREE Loss-of-function mutations in TTC19 (tetra-tricopeptide repeat domain 19) have been associated with severe neurological phenotypes and mitochondrial respiratory chain complex III deficiency. 28673544 2017
CUI: C0342778
Disease: Ubiquinone dehydrogenase deficiency
Ubiquinone dehydrogenase deficiency 		0.040 GeneticVariation disease BEFREE Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency. 23532514 2013
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.020 GeneticVariation group BEFREE We identified a homozygous nonsense mutation in the gene encoding tetratricopeptide 19 (TTC19) in individuals from two families affected by progressive encephalopathy associated with profound cIII deficiency and accumulation of cIII-specific assembly intermediates. 21278747 2011
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.010 GeneticVariation phenotype BEFREE A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation. 25652355 2015
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.010 GeneticVariation disease BEFREE The bilateral retinal cherry red spots and failure to thrive observed in our patient are unique features, which have not been described, in previously reported patients with TTC19 mutations. 25899669 2015
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.010 GeneticVariation group BEFREE Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes: Expanding the Phenotype. 29961508 2018
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.010 GeneticVariation disease BEFREE Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient. 24397319 2014
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		0.010 GeneticVariation disease BEFREE Our findings add to the array of mutations in TTC19, corroborate the notion of genotype/phenotype variability in mitochondrial encephalomyopathies even within a single family, and indicate that psychiatric manifestations are a further presentation of low CIII. 23532514 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 GeneticVariation disease BEFREE We performed exome sequencing and selective mutational analysis of TTC19, respectively, in patients from three unrelated families presenting with initially unspecific clinical signs of muscular hypotonia and global developmental delay followed by regression, ataxia, loss of speech, and rapid neurological deterioration. 25887401 2015
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.010 GeneticVariation disease BEFREE The bilateral retinal cherry red spots and failure to thrive observed in our patient are unique features, which have not been described, in previously reported patients with TTC19 mutations. 25899669 2015
CUI: C3887638
Disease: Failure to thrive in infant
Failure to thrive in infant 		0.010 GeneticVariation disease BEFREE The bilateral retinal cherry red spots and failure to thrive observed in our patient are unique features, which have not been described, in previously reported patients with TTC19 mutations. 25899669 2015
CUI: C1852372
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) 		0.530 Biomarker disease CTD_human
CUI: C1852372
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) 		0.530 Biomarker disease GENOMICS_ENGLAND
CUI: C1852372
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) 		0.530 Biomarker disease GENOMICS_ENGLAND
CUI: C3554605
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 		0.400 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3554605
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. 21278747 2011