Familial exudative vitreoretinopathy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
FEVR Criswick-Schepens syndrome |
| Number of Symptoms | 15 |
| OrphanetNr: | 891 |
| OMIM Id: |
133780
305390 601813 605750 613310 |
| ICD-10: |
H35.0 |
| UMLs: |
C0339539 C1851402 |
| MeSH: |
C536382 |
| MedDRA: |
|
| Snomed: |
232063007 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant Autosomal recessive X-linked recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic central nervous system and retinal vascular disease
-Rare genetic disease Rare central nervous system and retinal vascular disease -Rare neurologic disease Vitreoretinal degeneration -Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0001493) | Falciform retinal fold | 6 / 7739 | ||||
|
|
(HPO:0007902) | Vitreous hemorrhage | 9 / 7739 | ||||
|
|
(HPO:0007685) | Peripheral retinal avascularization | 3 / 7739 | ||||
|
|
(HPO:0001489) | Posterior vitreous detachment | 3 / 7739 | ||||
|
|
(HPO:0001147) | Retinal exudate | 8 / 7739 | ||||
|
|
(HPO:0007663) | Reduced visual acuity | 100 / 7739 | ||||
|
|
(HPO:0000618) | Blindness | 124 / 7739 | ||||
|
|
(HPO:0001146) | Pigmentary retinal degeneration | 15 / 7739 | ||||
|
|
(HPO:0000523) | Subcapsular cataract | 12 / 7739 | ||||
|
|
(HPO:0000541) | Retinal detachment | 87 / 7739 | ||||
|
|
(HPO:0002757) | Recurrent fractures | 47 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(HPO:0003677) | Slow progression | 134 / 7739 | ||||
|
|
(HPO:0003593) | Infantile onset | 249 / 7739 | ||||
|
|
(HPO:0030490) | Exudative vitreoretinopathy | 5 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|