Hyperornithinemia
|
0.670 |
CausalMutation
|
phenotype |
CLINVAR |
Reversal of cystoid macular edema in gyrate atrophy patients.
|
28388263 |
2017 |
Hyperornithinemia
|
0.670 |
CausalMutation
|
phenotype |
CLINVAR |
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.
|
28181551 |
2017 |
Hyperornithinemia
|
0.670 |
CausalMutation
|
phenotype |
CLINVAR |
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.
|
23076989 |
2013 |
Hyperornithinemia
|
0.670 |
GermlineCausalMutation
|
phenotype |
ORPHANET |
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.
|
23076989 |
2013 |
Hyperornithinemia
|
0.670 |
CausalMutation
|
phenotype |
CLINVAR |
Retinal structure, function, and molecular pathologic features in gyrate atrophy.
|
22182799 |
2012 |
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 |
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 |
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 |
Hyperornithinemia
|
0.670 |
CausalMutation
|
phenotype |
CLINVAR |
Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.
|
1737786 |
1992 |
Hyperornithinemia
|
0.670 |
Biomarker
|
phenotype |
BEFREE |
The clinical diagnosis was confirmed with the demonstration of hyperornithinemia and deficiency of ornithine-delta-aminotransferase.
|
1755734 |
1991 |
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 |
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 |
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 |
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 |
Hyperornithinemia
|
0.670 |
Biomarker
|
phenotype |
HPO |
|
|
|
Hyperornithinemia
|
0.670 |
Biomarker
|
phenotype |
CTD_human |
|
|
|
Hyperornithinemia
|
0.670 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|