Gyrate atrophy of choroid and retina
General Information (adopted from Orphanet):
| Synonyms, Signs: |
OKT DEFICIENCY GYRATE ATROPHY HYPERORNITHINEMIA WITH GYRATE ATROPHY OF CHOROID AND RETINA ORNITHINE KETO ACID AMINOTRANSFERASE DEFICIENCY ORNITHINE-DELTA-AMINOTRANSFERASE DEFICIENCY OAT DEFICIENCY HOGA GACR Hyperornithinemia - gyrate atrophy of choroid and retina Hyperornithinemia ornithine aminotransferase deficiency |
| Number of Symptoms | 19 |
| OrphanetNr: | 414 |
| OMIM Id: |
258870
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| ICD-10: |
E72.4 |
| UMLs: |
C0599035 |
| MeSH: |
C537132 |
| MedDRA: |
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| Snomed: |
276426004 33985005 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of ornithine metabolism
-Rare genetic disease Metabolic disease with cataract -Rare eye disease -Rare genetic disease Metabolic disease with pigmentary retinitis -Rare eye disease -Rare genetic disease Rare hereditary metabolic disease with peripheral neuropathy -Rare genetic disease -Rare neurologic disease Retinal dystrophy -Rare eye disease -Rare genetic disease Unclassified familial retinal dystrophy -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000572) | Visual loss | 272 / 7739 | ||||
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(HPO:0000618) | Blindness | 124 / 7739 | ||||
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(HPO:0007787) | Posterior subcapsular cataract | 20 / 7739 | ||||
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(HPO:0000533) | Chorioretinal atrophy | 24 / 7739 | ||||
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(HPO:0000545) | Myopia | 286 / 7739 | ||||
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(HPO:0000662) | Nyctalopia | 92 / 7739 | ||||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(HPO:0003457) | EMG abnormality | 78 / 7739 | ||||
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(HPO:0003701) | Proximal muscle weakness | 105 / 7739 | ||||
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(OMIM) | Progressive loss of peripheral vision (onset in first decade) | 1 / 7739 | ||||
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(OMIM) | Plasma ammonia not elevated | 1 / 7739 | ||||
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(OMIM) | Elevated plasma ornithine (~10-fold) | 1 / 7739 | ||||
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(OMIM) | Tubular aggregates in type 2 skeletal muscle fibers | 1 / 7739 | ||||
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(OMIM) | Elevated urinary ornithine, lysine, arginine | 1 / 7739 | ||||
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(OMIM) | Progressive chorioretinal degeneration | 1 / 7739 | ||||
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(OMIM) | Mild proximal muscle weakness (<10% of patients) | 5 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Decreased plasma lysine, glutamic acid, and glutamine | 1 / 7739 | ||||
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(OMIM) | Ornithine-delta-aminotransferase (OAT) deficiency | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Gyrate atrophy of the choroid and retina due to deficiency of ornithine aminotransferase is clinically characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. Characteristic chorioretinal atrophy with progressive constriction ... |
| Clinical Description OMIM |
Hyperornithinemia presumably due to deficiency of ornithine ketoacid aminotransferase was found in 9 patients with gyrate atrophy of the choroid and retina (Simell and Takki, 1973). The clinical history of gyrate atrophy is usually night blindness that begins ... |
| Molecular genetics OMIM |
In patients with gyrate atrophy of the choroid and retina, Mitchell et al. (1988) identified a mutation in the OAT gene (613349.0001). Brody et al. (1992) discovered and characterized the molecular defect in 21 newly recognized ... |
| Population genetics OMIM |
Valle and Simell (2001) stated that approximately 200 biochemically confirmed cases of GACR are known. The incidence is highest in Finland, with an estimated frequency of about 1 in 50,000 individuals and an estimated frequency for heterozygotes of ... |