ORPHA:414
Gyrate atrophy of choroid and retina
Synonyms: HOGA · Hyperornithinemia · Hyperornithinemia-gyrate atrophy of choroid and retina syndrome · Ornithine aminotransferase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gyrate atrophy of choroid and retina | HOGA · Hyperornithinemia · Hyperornithinemia-gyrate atrophy of choroid and retina syndrome · Ornithine aminotransferase deficiency |
| fr | Atrophie gyrée choriorétinienne | Atrophie gyrée de la rétine · Déficit en ornithine aminotransférase · Hyperornithinémie |
| de | Atrophia gyrata der Chorioidea und Retina | HOGA · Hyperornithinämie · Hyperornithinämie - Atrophia gyrata der Aderhaut und Netzhaut · Ornithin-Aminotransferase-Mangel |
| es | Atrofia girata de la coroides y la retina | Deficiencia de ornitín aminotransferasa · HOGA · Hiperornitinemia · Hiperornitinemia-atrofia girada de la coroides y la retina |
| it | Atrofia girata della coroide e della retina | Deficit di ornitina aminotransferasi · HOGA · Iperornitinemia · Iperornitinemia - atrofia girata della coroide e della retina |
| nl | Gyrate atrofie van choroidea en retina | Gyrate atrofie van het vaatvlies en het netvlies · HOGA · Hyperornithinemie · Hyperornithinemie - gyrate atrofie van choroidea en retina-syndroom · OAT-deficiëntie · Ornithine aminotransferasedeficiëntie |
| pt | Atrofia girata da coróide e retina | Deficiência de ornitina aminotransferase · HOGA · Hiperornitinemia · Síndrome de hiperornitinemia-atrofia girata da coróide e da retina |
| pl | Zanik girlandowaty siatkówki i naczyniówki | Hiperornitynemia · Hiperornitynemia - zanik girlandowaty siatkówki i naczyniówki · HOGA · Niedobór aminotransferazy ornityny |
| cs | Gyrátová atrofie cévnatky a sítnice | HOGA · Hyperornithinémie · Syndrom zahrnující hyperornithinémii a gyrátovou atrofii cévnatky a sítnice · Deficit ornithinaminotransferázy |
| uk | Круглиста атрофія судинної оболонки та сітківки | HOGA · Гіперорнітинемія · Синдром гіперорнітинемії - гіратальної атрофії судинної оболонки та сітківки · Дефіцит орнітин-амінотрансферази |
| zh | 脉络膜视网膜环状萎缩 | 高鸟氨酸血症-脉络膜视网膜环状萎缩综合征 |
| tr | Koroid ve retinanın girdap atrofisi | HOGA · Hiperornitinemi · Ornitin aminotransferaz eksikliği · Koroid ve retina sendromunun hiperornitinemi-girat atrofisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 258870 | E | validated | |
| ICD-10 | E72.4 | NTBT | attributed | validated |
| ICD-11 | 5C50.9 | NTBT | index | validated |
| MONDO | 0009796 | E | validated | |
| MeSH | D015799 | E | validated | |
| UMLS | C0018425 | E | validated | |
| GARD | 6556 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:289869Disorder of ornithine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:98644Metabolic disease with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:717317Rare genetic isolated progressive predominantly chorioretinal disorder
rare genetic diseases - ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:716348Rare isolated progressive predominantly chorioretinal disorder
rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| OAT | Disease-causing germline mutation(s) in | Assessed | HGNC:8091 | ENSG00000065154 | 613349 | 10q26.13 | ornithine aminotransferase | 23076989[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2 / 100 000 | Finland | Value and class | Not yet validated | ORPHANET |
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
16 annotations · validated 2019-10-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000533 | Chorioretinal atrophy | |
| HP:0200065 | Chorioretinal degeneration | |
| HP:0012026 | Hyperornithinemia | |
| HP:0000545 | Myopia | |
| HP:0000529 | Progressive visual loss | |
| Frequent (79-30%) | ||
| HP:0001103 | Abnormal macular morphology | |
| HP:0003355 | Aminoaciduria | |
| HP:0000618 | Blindness | |
| HP:0000518 | Cataract | |
| HP:0040031 | Chorioretinal hyperpigmentation | |
| HP:0001133 | Constriction of peripheral visual field | |
| HP:0007675 | Progressive night blindness | |
| HP:0000523 | Subcapsular cataract | |
| Occasional (29-5%) | ||
| HP:0001595 | Abnormality of the hair | |
| HP:0000365 | Hearing impairment | |
| HP:0001250 | Seizure | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 8325736[PMID]_30578510[PMID]_1682785[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/414
- This record as JSON: /data/d/414.json