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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   gyrate atrophy of choroid and retina
  

Disease ID 645
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)
4942  |  OAT  |  CTD_human;UNIPROT
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:1)
4942  |  OAT  |  CIPHER;CTD_human
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
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
Disease gyrate atrophy of choroid and retina
Manually Symptom(Waiting for update.)
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:1)
C0035304  |  retinal degeneration  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:5)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs121965043112974894942OATumls:C0018425BeFreeOphthalmologic heterogeneity in subjects with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase.0.3340390322001OAT10124398057AG
rs12196504317377864942OATumls:C0018425UNIPROTOrnithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.0.3340390321992OAT10124398057AG
rs12196505978874154942OATumls:C0018425BeFreeWe 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).0.3340390321995OAT10124403892GA
rs1800456230769894942OATumls:C0018425UNIPROTFunctional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.0.3340390322013OAT10124397951CT,G,A
rs386833621106179194942OATumls:C0018425BeFreeTwo 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.0.3340390321999OAT10124401788CT
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 645
Disease gyrate atrophy of choroid and retina
Case(Waiting for update.)