EXUDATIVE VITREORETINOPATHY 2, X-LINKED

General Information (adopted from Orphanet):

Synonyms, Signs: FEVR, X-LINKED
EXUDATIVE VITREORETINOPATHY, FAMILIAL, 2
EVR2
FEVRX
EVRX
Number of Symptoms 16
OrphanetNr:
OMIM Id: 305390
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000568) Microphthalmia rare [HPO:skoehler] 183 / 7739
2
 (HPO:0000490) Deeply set eye 131 / 7739
3
 (HPO:0000541) Retinal detachment 87 / 7739
4
 (HPO:0011532) Subretinal exudate 8457509 IBIS 1 / 7739
5
 (HPO:0011530) Retinal hole rare [HPO:skoehler] 3 / 7739
6
 (HPO:0007710) Peripheral vitreous opacities 1642288 IBIS 1 / 7739
7
 (HPO:0007663) Reduced visual acuity 100 / 7739
8
 (HPO:0007989) Intraretinal exudate 1 / 7739
9
 (HPO:0001493) Falciform retinal fold 20159112 IBIS 6 / 7739
10
 (HPO:0000639) Nystagmus rare [HPO:skoehler] 555 / 7739
11
 (OMIM) Retinal traction 1 / 7739
12
 (OMIM) Exudative vitreoretinopathy 2 / 7739
13
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
14
 (HPO:0012841) Retinal vascular tortuosity rare [HPO:skoehler] 3 / 7739
15
 (HPO:0030490) Exudative vitreoretinopathy 5 / 7739
16
 (OMIM) Subretinal and intraretinal exudates 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Familial exudative vitreoretinopathy is an inherited disorder characterized by retinal traction, peripheral vitreous opacities, and subretinal and intraretinal exudates (Plager et al., 1992).

Plager et al. (1992) observed a family in which 4 boys, the children ...
Molecular genetics OMIM That the phenotypes of both X-linked exudative vitreoretinopathy and Norrie disease can result from different mutations in the same gene was supported strongly by the demonstration by Chen et al. (1993) of a leu124-to-phe mutation in the NDP ...