OAT, ornithine aminotransferase, 4942

N. diseases: 92; N. variants: 71
Disease: Hyperornithinemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		0.670 CausalMutation phenotype CLINVAR Reversal of cystoid macular edema in gyrate atrophy patients. 28388263 2017
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		0.670 CausalMutation phenotype CLINVAR Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies. 28181551 2017
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		0.670 CausalMutation phenotype CLINVAR Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina. 23076989 2013
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		0.670 GermlineCausalMutation phenotype ORPHANET Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina. 23076989 2013
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		0.670 CausalMutation phenotype CLINVAR Retinal structure, function, and molecular pathologic features in gyrate atrophy. 22182799 2012
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		0.670 Biomarker phenotype BEFREE There is now strong evidence that the chorioretinal degeneration associated with ornithine-delta-aminotransferase (OAT) deficiency is a consequence of hyperornithinemia. 9415309 1997
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		0.670 Biomarker phenotype BEFREE Deficiency of ornithine-delta-aminotransferase (OAT) in humans causes hyperornithinaemia and gyrate atrophy (GA), a blinding chorioretinal degeneration. 7550347 1995
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		0.670 CausalMutation phenotype CLINVAR Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy. 1609808 1992
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		0.670 CausalMutation phenotype CLINVAR Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. 1737786 1992
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		0.670 Biomarker phenotype BEFREE The clinical diagnosis was confirmed with the demonstration of hyperornithinemia and deficiency of ornithine-delta-aminotransferase. 1755734 1991
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		0.670 Biomarker phenotype BEFREE Gyrate atrophy (GA), a recessive eye disease involving progressive vision loss due to chorioretinal degeneration, is associated with the deficiency of the mitochondrial enzyme ornithine aminotransferase (OAT), with consequent hyperornithinemia. 2220818 1990
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		0.670 Biomarker phenotype BEFREE Little is known about OAT modulation in retinal tissue, although chorio-retinal degeneration is the predominant feature in a hereditary disorder of OAT deficiency, gyrate atrophy. 2584228 1989
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		0.670 Biomarker phenotype BEFREE Gyrate atrophy (GA), a recessive eye disease involving progressive loss of vision due to chorioretinal degeneration, is associated with a deficiency of the mitochondrial enzyme ornithine aminotransferase (OATase; ornithine-oxo-acid aminotransferase; L-ornithine:2-oxo-acid aminotransferase, EC 2.6.1.13) with consequent hyperornithinemia. 3375240 1988
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		0.670 Biomarker phenotype BEFREE What specific role the hyperornithinemia and absence of OAT is playing in the histopathology of hair and muscle and the EEG changes awaits further biochemical investigation. 7254776 1981
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		0.670 Biomarker phenotype HPO
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		0.670 Biomarker phenotype CTD_human
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		0.670 GeneticVariation phenotype CLINVAR