Helicoid peripapillary chorioretinal degeneration
Synonyms: Atrophia areata · SCRA · Sveinsson chorioretinal atrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Helicoid peripapillary chorioretinal degeneration | Atrophia areata · SCRA · Sveinsson chorioretinal atrophy |
| fr | Dégénérescence choriorétinienne péripapillaire hélicoïdale | Atrophia areata · Atrophie choriorétinienne de Sveinsson |
| de | Chorioretinale Degeneration, helikoid-peripapilläre | Atrophia areata · Degeneration, chorioretinale, Typ Sveinsson |
| es | Degeneración helicoidal peripapilar coriorretiniana | Atrofia coriorretiniana de Sveinsson · SCRA |
| it | Degenerazione corioretinica peripapillare elicoidale | Atrofia aerata · Atrofia corioretinica di Sveinsson |
| nl | Helicoïde peripapillaire chorioretinale degeneratie | Atrophia areata · Chorioretinale atrofie van Sveinsson · SCRA |
| pt | Degeneração coriorretiniana peripapilar helicoidal | |
| pl | Okołotarczowa degeneracja naczyniówki i siatkówki | Atrofia miejscowa · SCRA · Zanik siatkówki i naczyniówki Sveinssona |
| cs | Helikoidní peripapilární chorioretinální degenerace | Atrofia areata · SCRA · Sveinssonova chorioretinální atrofie |
| uk | Гелікоїдна перипапілярна хоріоретинальна дегенерація | Атрофія ареату · SCRA · Хоріоретинальна атрофія Свейнссона |
| zh | 螺旋状视乳头周围型脉络膜视网膜变性 | Sveinsson视网膜脉络膜萎缩 |
| tr | Helikoid peripapiller korioretinal dejenerasyonu | SCRA · Atrofi areata · Sveinsson korioretinal atrofi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 108985 | E | validated | |
| ICD-10 | H31.2 | NTBT | attributed | validated |
| ICD-11 | 9B70 | NTBT | index | validated |
| MONDO | 0007176 | E | validated | |
| MeSH | C566236 | E | validated | |
| UMLS | C1862382 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:717317Rare genetic isolated progressive predominantly chorioretinal disorder
rare genetic diseases - ORPHA:716348Rare isolated progressive predominantly chorioretinal disorder
rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TEAD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11714 | ENSG00000187079 | 189967 | 11p15.3 | TEA domain transcription factor 1 | 15016762[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/86813
- This record as JSON: /data/d/86813.json