Details of Disease

General Information of Disease (ID: DISWN0TG)

Disease Name Exudative vitreoretinopathy
Synonyms exudative vitreoretinopathy, familial; FEVR; Criswick-Schepens syndrome; familial exudative vitreoretinopathy
Definition
Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.
Disease Hierarchy
DISNEEBJ: Retinal vascular disorder
DISVPRKD: Vitreoretinal degeneration
DISWN0TG: Exudative vitreoretinopathy
Disease Identifiers
MONDO ID
MONDO_0019516
MESH ID
D000080345
UMLS CUI
C0339539
MedGen ID
573220
HPO ID
HP:0030490
Orphanet ID
891
SNOMED CT ID
232063007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CTNNB1 TTRPKQG Supportive Autosomal dominant [1]
LRP5 TT7VMG4 Supportive Autosomal dominant [2]
KIF11 TTBGTCW Strong Biomarker [3]
LRP5 TT7VMG4 Definitive Genetic Variation [4]
STK39 TTYQTIU Definitive Genetic Variation [5]
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This Disease Is Related to 9 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RCBTB1 OTAYELI8 Limited Autosomal dominant [6]
CTNNB1 OTZ932A3 Supportive Autosomal dominant [1]
LRP5 OTCC4JPH Supportive Autosomal dominant [2]
NDP OTGDJ4US Supportive Autosomal dominant [7]
TSPAN12 OTF9I3CX Supportive Autosomal dominant [2]
FZD1 OTZATHVS moderate Genetic Variation [8]
FZD5 OTXFFY56 moderate Genetic Variation [8]
PRSS23 OT6DQAM1 Strong CausalMutation [9]
FZD4 OTGLZIE0 Definitive Autosomal dominant [10]
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⏷ Show the Full List of 9 DOT(s)

References

1 Defects in the Cell Signaling Mediator -Catenin Cause the Retinal Vascular Condition FEVR. Am J Hum Genet. 2017 Jun 1;100(6):960-968. doi: 10.1016/j.ajhg.2017.05.001.
2 Familial Exudative Vitreoretinopathy, Autosomal Dominant C RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2005 Mar 21 [updated 2011 Sep 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
3 Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly.Eur J Hum Genet. 2018 Dec;26(12):1819-1823. doi: 10.1038/s41431-018-0243-y. Epub 2018 Sep 4.
4 Macular Hole Complicating Familial Exudative Vitreoretinopathy Due to LRP5 Mutation in an Adolescent.Ophthalmic Surg Lasers Imaging Retina. 2019 Feb 1;50(2):e49-e51. doi: 10.3928/23258160-20190129-19.
5 ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proc Natl Acad Sci U S A. 2013 Jun 11;110(24):9856-61. doi: 10.1073/pnas.1220864110. Epub 2013 May 28.
6 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
7 NDP-Related Retinopathies. 1999 Jul 30 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
8 An essential role of the cysteine-rich domain of FZD4 in Norrin/Wnt signaling and familial exudative vitreoretinopathy.J Biol Chem. 2011 Mar 25;286(12):10210-5. doi: 10.1074/jbc.M110.194399. Epub 2010 Dec 22.
9 Mutation spectrum of the FZD-4, TSPAN12 AND ZNF408 genes in Indian FEVR patients. BMC Ophthalmol. 2016 Jun 17;16:90. doi: 10.1186/s12886-016-0236-y.
10 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.