EXUDATIVE VITREORETINOPATHY 5

General Information (adopted from Orphanet):

Synonyms, Signs: EVR5
Number of Symptoms 7
OrphanetNr:
OMIM Id: 613310
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0007663) Reduced visual acuity rare [HPO:skoehler] 100 / 7739
2
(HPO:0001146) Pigmentary retinal degeneration 15 / 7739
3
(HPO:0000594) Shallow anterior chamber rare [HPO:skoehler] 8 / 7739
4
(HPO:0000505) Visual impairment rare [HPO:skoehler] 297 / 7739
5
(HPO:0007917) Tractional retinal detachment rare [HPO:skoehler] 2 / 7739
6
(HPO:0030490) Exudative vitreoretinopathy 5 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Nikopoulos et al. (2010) studied 2 large, unrelated Dutch families segregating autosomal dominant exudative vitreoretinopathy. Patients in both families invariably displayed the peripheral avascular area characteristic of FEVR. Visual acuity varied considerably, ranging from normal to light perception ...
Molecular genetics OMIM Using conventional Sanger sequencing in 2 large Dutch families segregating autosomal dominant exudative vitreoretinopathy mapping to chromosome 7, Nikopoulos et al. (2010) confirmed that a variant detected in the candidate gene TSPAN12 (A237P; 613138.0001) was present in heterozygosity ...