Pigmented paravenous retinochoroidal atrophy
Synonyms: PPRCA
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- All ages
- Status
- active
Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pigmented paravenous retinochoroidal atrophy | PPRCA |
| fr | Atrophie rétino-choroïdienne paraveineuse pigmentée | = en |
| de | Pigmentierte paravenöse retinochoroidale Atrophie | = en |
| es | Atrofia coriorretiniana pigmentada paravenosa | = en |
| it | Atrofia retinocoroidea paravenosa pigmentata | = en |
| nl | Gepigmenteerde paraveneuze retinochoroïdale atrofie | = en |
| pt | Atrofia coriorretiniana paravenosa pigmentada | = en |
| pl | Barwnikowy okołożylny zanik siatkówkowo-naczyniówkowy | = en |
| cs | Pigmentovaná paravenózní retinochoroidální atrofie | = en |
| uk | Пігментна паравенозна ретинохороїдальна атрофія | = en |
| zh | 色素性视网膜脉络膜静脉旁萎缩 | = en |
| tr | Pigmentli paravenöz retinokoroidal atrofi | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 172870 | E | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B7Y | NTBT | index | validated |
| MONDO | 0008246 | E | validated | |
| MeSH | C566801 | E | validated | |
| UMLS | C1868310 | 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:717311Rare genetic isolated non-progressive predominantly chorioretinal disorder
rare genetic diseases - ORPHA:716296Rare isolated non-progressive predominantly chorioretinal disorder
rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CRB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2343 | ENSG00000134376 | 604210 | 1q31.3 | crumbs cell polarity complex component 1 | 15623792[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 24926324[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24926324[PMID] |
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/251295
- This record as JSON: /data/d/251295.json