ORPHA:209867
Isolated ocular Stickler syndrome
Synonyms: Autosomal dominant rhegmatogenous retinal detachment
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare, hereditary, non-syndromic form of vitreoretinopathy characterized by retinal tears due to abnormal vitreous, and commonly present refractive errors. No other signs or symptoms of Stickler syndrome is present.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated ocular Stickler syndrome | Autosomal dominant rhegmatogenous retinal detachment |
| fr | Syndrome de Stickler oculaire isolé | Décollement de la rétine rhegmatogène autosomique dominant |
| de | Stickler-Syndrom, isoliertes okuläres | Netzhautablösung, rhegmatogene, autosomal-dominante |
| es | Síndrome de Stickler ocular aislado | Desprendimiento de retina regmatógeno autosómico dominante |
| it | Sindrome oculare di Stickler isolata | Distacco regmatogeno della retina autosomico dominante |
| nl | Geïsoleerd oculair syndroom van Stickler | Autosomaal dominante regmatogene netvliesloslating |
| pt | Deslocamento da retina regmatogénico autossómico dominante | |
| pl | Autosomalne dominujące otworopochodne odwarstwienie siatkówki | = en |
| cs | Autozomálně dominantní rhegmatogenní odloučení sítnice | = en |
| uk | Аутосомно-домінантне регматогенне відшарування сітківки | |
| zh | 常染色体显性遗传孔源性视网膜脱离 | |
| tr | Otozomal dominant regmatojen retina dekolmanı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609508 | NTBT | validated | |
| ICD-10 | H33.0 | NTBT | attributed | validated |
| ICD-11 | 9B73.0 | NTBT | index | validated |
| MONDO | 0016202 | E | validated | |
| MeSH | C563710 | E | validated | |
| UMLS | C1836081 | 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 (1):
- ORPHA:716441Rare isolated progressive vitreoretinopathy
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL2A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2200 | ENSG00000139219 | 120140 | 12q13.11 | collagen type II alpha 1 chain | 15671297[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 38 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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/209867
- This record as JSON: /data/d/209867.json