EXUDATIVE VITREORETINOPATHY 4

General Information (adopted from Orphanet):

Synonyms, Signs: EVR4
Number of Symptoms 19
OrphanetNr:
OMIM Id: 601813
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Autosomal recessive inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001493) Falciform retinal fold 6 / 7739
2
(HPO:0007663) Reduced visual acuity 100 / 7739
3
(HPO:0000505) Visual impairment 297 / 7739
4
(HPO:0001146) Pigmentary retinal degeneration 15 / 7739
5
(HPO:0007902) Vitreous hemorrhage 9 / 7739
6
(HPO:0007811) Horizontal pendular nystagmus 3 / 7739
7
(HPO:0000523) Subcapsular cataract 12 / 7739
8
(HPO:0007917) Tractional retinal detachment 2 / 7739
9
(HPO:0001489) Posterior vitreous detachment 3 / 7739
10
(HPO:0007685) Peripheral retinal avascularization 3 / 7739
11
(HPO:0001147) Retinal exudate 8 / 7739
12
(HPO:0000618) Blindness 124 / 7739
13
(HPO:0000938) Osteopenia 138 / 7739
14
(HPO:0003593) Infantile onset 249 / 7739
15
(OMIM) Neovascularization 1 / 7739
16
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
17
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
18
(OMIM) Macular ectopia 2 / 7739
19
(HPO:0030490) Exudative vitreoretinopathy 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Shastry and Trese (1997) reported a family in which the mode of inheritance of FEVR appeared to be autosomal recessive. Affected males and females occurred in 3 separate sibships. The parents were consanguineous in the case of 2 ...
Molecular genetics OMIM In affected members of 6 unrelated families with FEVR, Toomes et al. (2004) identified 6 different heterozygous mutations in the LRP5 gene (see, e.g., 603506.0020-603506.0021). One of the families had been reported by Price et al. (1996). ...