gyrate atrophy of choroid and retina |
Disease ID | 645 |
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Disease | gyrate atrophy of choroid and retina |
Definition | Progressive, autosomal recessive, diffuse atrophy of the choroid, pigment epithelium, and sensory retina that begins in childhood. |
Synonym | atrophy, gyrate gacr gyrate atrophy gyrate atrophy (disorder) gyrate atrophy [disease/finding] gyrate atrophy of retina choroid gyrate atrophy of the choroid and retina gyrate atrophy of the choroid and/or retina gyrate atrophy of the choroid and/or retina (disorder) gyrate atrophy of the choroid and/or retina (disorder) [ambiguous] gyrate atrophy of the retina hoga hyperornithinemia with gyrate atrophy of choroid and retina ornithinaemia with gyrate atrophy ornithinemia with gyrate atrophy ornithinemia with gyrate atrophy (disorder) |
Orphanet | |
OMIM | |
DOID | |
UMLS | C0018425 |
MeSH | |
SNOMED-CT | |
Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:10) C0456909 | blindness | 2 C0018425 | gyrate atrophy | 2 C0271051 | macular edema | 1 C0086543 | cataract | 1 C0035305 | retinal detachment | 1 C0024440 | cystoid macular edema | 1 C0035304 | retinal degeneration | 1 C0151860 | porencephaly | 1 C0010691 | cystinuria | 1 C0027092 | myopia | 1 |
Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:13) 5832 | ALDH18A1 | 3.096 | DISEASES 285440 | CYP4V2 | 2.315 | DISEASES 1644 | DDC | 1.908 | DISEASES 2263 | FGFR2 | 1.023 | DISEASES 2512 | FTL | 2.193 | DISEASES 2593 | GAMT | 2.495 | DISEASES 2628 | GATM | 3.17 | DISEASES 4942 | OAT | 7.644 | DISEASES 5625 | PRODH | 2.151 | DISEASES 5831 | PYCR1 | 4.301 | DISEASES 10166 | SLC25A15 | 2.609 | DISEASES 6520 | SLC3A2 | 2.786 | DISEASES 348932 | SLC6A18 | 4.845 | DISEASES |
Locus | Symbol | Locus(Total Locus:1) OAT | 10q26.13 |
Disease ID | 645 |
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Disease | gyrate atrophy of choroid and retina |
Integrated Phenotype | (Waiting for update.) |
Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:14) HP:0000618 | Blindness | 2 HP:0000545 | Near sightedness | 1 HP:0000969 | Dropsy | 1 HP:0040049 | Macular edema | 1 HP:0012026 | High blood ornithine levels | 1 HP:0001987 | Hyperammonemia | 1 HP:0200065 | Chorioretinal degeneration | 1 HP:0003131 | Cystinuria | 1 HP:0000546 | Retinal degeneration | 1 HP:0011505 | Cystoid macular edema | 1 HP:0000518 | Cataract | 1 HP:0003159 | Hyperoxaluria | 1 HP:0002132 | Porencephaly | 1 HP:0000541 | Detached retina | 1 |
Disease ID | 645 |
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Disease | gyrate atrophy of choroid and retina |
Manually Symptom | (Waiting for update.) |
Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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(Waiting for update.) |
All Snps(Total Genotypes:5) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs121965043 | 11297489 | 4942 | OAT | umls:C0018425 | BeFree | Ophthalmologic heterogeneity in subjects with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase. | 0.334039032 | 2001 | OAT | 10 | 124398057 | A | G |
rs121965043 | 1737786 | 4942 | OAT | umls:C0018425 | UNIPROT | Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. | 0.334039032 | 1992 | OAT | 10 | 124398057 | A | G |
rs121965059 | 7887415 | 4942 | OAT | umls:C0018425 | BeFree | We discovered the missense mutation, A226V, in the ornithine-delta-aminotransferase (OAT) genes of two unrelated patients with gyrate atrophy of the choroid and retina (GA). | 0.334039032 | 1995 | OAT | 10 | 124403892 | G | A |
rs1800456 | 23076989 | 4942 | OAT | umls:C0018425 | UNIPROT | Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina. | 0.334039032 | 2013 | OAT | 10 | 124397951 | C | T,G,A |
rs386833621 | 10617919 | 4942 | OAT | umls:C0018425 | BeFree | Two clinical subtypes of gyrate atrophy (GA) have been defined based on in vivo or in vitro evidence of response to vitamin B6 (pyridoxine), which is the cofactor of the enzyme ornithine aminotransferase (OAT) shown to be defective in GA. We identified the E318K mutation in the OAT gene, heterozygously in three patients and homozygously in one patient, all of whom were vitamin B6-responsive by previous in vivo and in vitro studies. | 0.334039032 | 1999 | OAT | 10 | 124401788 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:0) | |
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Mapped by lexical matching(Total Items:0) |
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(Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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(Waiting for update.) |
Disease ID | 645 |
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Disease | gyrate atrophy of choroid and retina |
Case | (Waiting for update.) |