ORPHA:717348
Rare genetic disorder with progressive retinal vasculopathy as a major feature
Synonyms: Rare genetic syndromic progressive retinal vasculopathy
- Type
- Category
- Group
- Group of disorders
- 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
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare genetic disorder with progressive retinal vasculopathy as a major feature | Rare genetic syndromic progressive retinal vasculopathy |
| fr | Maladie génétique rare avec vasculopathie rétinienne progressive comme manifestation majeure | Maladie génétique rare avec vasculopathie rétinienne progressive syndromique |
| de | Seltene genetische Störung mit progressiver Vaskulopathie als Hauptmerkmal | Seltenes genetisches Syndrom mit fortschreitender Netzhautvaskulopathie |
| es | Trastorno genético raro con afectación de vasculopatía progresiva como característica principal | Vasculopatía retiniana progresiva sindrómica genética rara |
| it | Malattia genetica rara con vasculopatia progressiva come caratteristica principale | Vasculopatia retinica sindromica genetica rara progressiva |
| nl | Zeldzame genetische aandoening met progressieve vasculopathie als hoofdkenmerk | Zeldzame genetische syndromale progressieve retinale vasculopathie |
| pt | Rare genetic disorder with progressive vasculopathy disorder as a major feature | |
| pl | Rzadkie genetycznie uwarunkowane zaburzenie z postępującą waskulopatią jako dominującą cechą | = en |
| cs | Rare genetic disorder with progressive retinal vasculopathy as a major feature | = en |
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Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:717342Rare genetic progressive retinal vasculopathy
rare genetic diseases
Children (11):
- ORPHA:136CADASIL
- ORPHA:190Coats disease
- ORPHA:313838Coats plus syndrome
- ORPHA:464Incontinentia pigmenti
- ORPHA:649Norrie disease
- ORPHA:2788Osteoporosis-pseudoglioma syndrome
- ORPHA:247691Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
- ORPHA:3088Revesz syndrome
- ORPHA:2715Severe oculo-renal-cerebellar syndrome
- ORPHA:506307Stromme syndrome
- ORPHA:3205Sturge-Weber syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/717348
- This record as JSON: /data/d/717348.json