ORPHA:63454
Pattern dystrophy
Synonyms: Patterned dystrophy of the retinal pigment epithelium
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adult
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pattern dystrophy | Patterned dystrophy of the retinal pigment epithelium |
| fr | Pattern dystrophie | Dystrophie tachetée du pôle postérieur |
| de | Musterdystrophien des retinalen Pigmentepithels | |
| es | Displasia en patrón del epitelio pigmentario de la retina | |
| it | Distrofia dell'epitelio pigmentato della retina | |
| nl | Patroondystrofie | Patroondystrofie van retinaal pigmentepitheel |
| pt | Distrofia em padrão | Distrofia em padrão do epitélio pigmentar da retina |
| pl | Dystrofie wzorzyste nabłonka barwnikowego siatkówki | = en |
| cs | Pigmentová pattern dystrofie | Pattern dystrofie retinálního pigmentového epitelu |
| uk | Патерноподібна дистрофія | Патернальна дистрофія пігментного епітелію сітківки |
| zh | 视网膜色素上皮图形状营养不良 | 图案状视网膜色素上皮萎缩 |
| tr | Pattern distrofisi | Retina pigment epitelinin paternli distrofisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18973 | E | validated | |
| MeSH | C536309 | E | validated | |
| UMLS | C1868569 | E | validated | |
| GARD | 9821 | 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 (2):
- ORPHA:717336Rare genetic isolated progressive predominantly macular disorder
rare genetic diseases - ORPHA:716432Rare isolated progressive predominantly macular disorder
rare ophthalmic disorders
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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/63454
- This record as JSON: /data/d/63454.json