EVR2
MCID: EXD009
MIFTS: 42

Exudative Vitreoretinopathy 2, X-Linked (EVR2)

Categories: Cardiovascular diseases, Eye diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Exudative Vitreoretinopathy 2, X-Linked

MalaCards integrated aliases for Exudative Vitreoretinopathy 2, X-Linked:

Name: Exudative Vitreoretinopathy 2, X-Linked 56
Fevrx 56 12 73
Evr2 56 12 73
Evrx 56 12 73
Familial Exudative Vitreoretinopathy, X-Linked 29 6
X-Linked Exudative Vitreoretinopathy 2 12 15
Exudative Vitreoretinopathy, Familial, X-Linked Recessive 71
Vitreoretinopathy, Exudative, X-Linked, Type 2 39
X-Linked Familial Exudative Vitreoretinopathy 73
Exudative Vitreoretinopathy, Familial, 2 56
Exudative Vitreoretinopathy Familial 2 73
Vitreoretinopathy, Exudative 2 73
Fevr, X-Linked; Fevrx 56
Fevr, X-Linked 56
Fevr X-Linked 73

Characteristics:

OMIM:

56
Inheritance:
x-linked recessive
x-linked dominant (1 family)

Miscellaneous:
symptomatic female carriers have been described in 1 japanese family


HPO:

31
exudative vitreoretinopathy 2, x-linked:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111413
OMIM 56 305390
OMIM Phenotypic Series 56 PS133780
MeSH 43 D012164
MedGen 41 C1844579
UMLS 71 C1844579

Summaries for Exudative Vitreoretinopathy 2, X-Linked

OMIM : 56 Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by Poulter et al., 2010). For a discussion of genetic heterogeneity of FEVR, see EVR1 (133780). (305390)

MalaCards based summary : Exudative Vitreoretinopathy 2, X-Linked, also known as fevrx, is related to vitreoretinopathy and exudative vitreoretinopathy. An important gene associated with Exudative Vitreoretinopathy 2, X-Linked is NDP (Norrin Cystine Knot Growth Factor NDP), and among its related pathways/superpathways are Pathways in cancer and S45 mutants of beta-catenin arent phosphorylated. Affiliated tissues include retina and eye, and related phenotypes are nystagmus and microphthalmia

Disease Ontology : 12 An exudative vitreoretinopathy that has material basis in mutation in NDP on chromosome Xp11.3.

UniProtKB/Swiss-Prot : 73 Vitreoretinopathy, exudative 2: A disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery.

Related Diseases for Exudative Vitreoretinopathy 2, X-Linked

Graphical network of the top 20 diseases related to Exudative Vitreoretinopathy 2, X-Linked:



Diseases related to Exudative Vitreoretinopathy 2, X-Linked

Symptoms & Phenotypes for Exudative Vitreoretinopathy 2, X-Linked

Human phenotypes related to Exudative Vitreoretinopathy 2, X-Linked:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 occasional (7.5%) HP:0000639
2 microphthalmia 31 occasional (7.5%) HP:0000568
3 retinal vascular tortuosity 31 occasional (7.5%) HP:0012841
4 retinal neovascularization 31 occasional (7.5%) HP:0030666
5 retinal hole 31 occasional (7.5%) HP:0011530
6 retinal detachment 31 HP:0000541
7 deeply set eye 31 HP:0000490
8 reduced visual acuity 31 HP:0007663
9 peripheral vitreous opacities 31 HP:0007710
10 exudative vitreoretinopathy 31 HP:0030490
11 subretinal exudate 31 HP:0011532
12 falciform retinal fold 31 HP:0001493
13 intraretinal exudate 31 HP:0007989

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
retinal detachment
retinal fold
nystagmus (in some patients)
decreased visual acuity
microphthalmia (rare)
more

Clinical features from OMIM:

305390

MGI Mouse Phenotypes related to Exudative Vitreoretinopathy 2, X-Linked:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.92 FZD1 FZD4 LRP5 NDP

Drugs & Therapeutics for Exudative Vitreoretinopathy 2, X-Linked

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Familial Exudative Vitreoretinopathy Clinical and Molecular Studies Completed NCT00106756

Search NIH Clinical Center for Exudative Vitreoretinopathy 2, X-Linked

Genetic Tests for Exudative Vitreoretinopathy 2, X-Linked

Genetic tests related to Exudative Vitreoretinopathy 2, X-Linked:

# Genetic test Affiliating Genes
1 Familial Exudative Vitreoretinopathy, X-Linked 29 NDP

Anatomical Context for Exudative Vitreoretinopathy 2, X-Linked

MalaCards organs/tissues related to Exudative Vitreoretinopathy 2, X-Linked:

40
Retina, Eye

Publications for Exudative Vitreoretinopathy 2, X-Linked

Articles related to Exudative Vitreoretinopathy 2, X-Linked:

(show all 17)
# Title Authors PMID Year
1
A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. 56 6
8252044 1993
2
X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis. 56 6
8457509 1993
3
Familial exudative vitreo-retinopathy. 56 6
95062 1979
4
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. 56
20159112 2010
5
Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy. 56
17325173 2007
6
The rod photoreceptors in retinopathy of prematurity: an electroretinographic study. 56
11296015 2001
7
NDP-Related Retinopathies 6
20301506 1999
8
Identification of a recurrent missense mutation in the Norrie disease gene associated with a simplex case of exudative vitreoretinopathy. 6
9618247 1998
9
Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy. 6
9382152 1997
10
Evidence for genetic heterogeneity in X-linked familial exudative vitreoretinopathy. 56
9299244 1997
11
X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein. 6
8946107 1996
12
Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy. 6
7558002 1995
13
Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathy. 6
8535448 1995
14
X-linked recessive familial exudative vitreoretinopathy. 56
1642288 1992
15
Familial exudative vitreoretinopathy. 56
5394449 1969
16
Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR). 61
14737064 2004
17
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. 61
12172548 2002

Variations for Exudative Vitreoretinopathy 2, X-Linked

ClinVar genetic disease variations for Exudative Vitreoretinopathy 2, X-Linked:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NDP NM_000266.4(NDP):c.370C>T (p.Leu124Phe)SNV Pathogenic 10684 rs28933684 X:43809077-43809077 X:43949831-43949831
2 NDP NM_000266.4(NDP):c.328T>G (p.Cys110Gly)SNV Pathogenic 10694 rs104894876 X:43809119-43809119 X:43949873-43949873
3 NDP NM_000266.4(NDP):c.362G>T (p.Arg121Leu)SNV Pathogenic 10695 rs137852220 X:43809085-43809085 X:43949839-43949839
4 NDP NM_000266.4(NDP):c.361C>T (p.Arg121Trp)SNV Likely pathogenic 10688 rs104894878 X:43809086-43809086 X:43949840-43949840
5 NDP NM_000266.4(NDP):c.200G>T (p.Gly67Val)SNV Likely pathogenic 522928 rs1460859456 X:43809247-43809247 X:43950001-43950001

UniProtKB/Swiss-Prot genetic disease variations for Exudative Vitreoretinopathy 2, X-Linked:

73 (show all 15)
# Symbol AA change Variation ID SNP ID
1 NDP p.Arg41Lys VAR_005480
2 NDP p.His42Arg VAR_005481 rs104894874
3 NDP p.Lys58Asn VAR_005483
4 NDP p.Tyr120Cys VAR_005499
5 NDP p.Arg121Gly VAR_005500
6 NDP p.Arg121Gln VAR_005501
7 NDP p.Arg121Trp VAR_005502 rs104894878
8 NDP p.Leu124Phe VAR_005505 rs28933684
9 NDP p.Ile18Lys VAR_063998
10 NDP p.Arg38Cys VAR_063999 rs758550101
11 NDP p.Lys54Asn VAR_064005
12 NDP p.Leu61Ile VAR_064007
13 NDP p.Leu103Val VAR_064017
14 NDP p.Arg115Leu VAR_064022
15 NDP p.Arg121Leu VAR_064024 rs137852220

Expression for Exudative Vitreoretinopathy 2, X-Linked

Search GEO for disease gene expression data for Exudative Vitreoretinopathy 2, X-Linked.

Pathways for Exudative Vitreoretinopathy 2, X-Linked

Pathways related to Exudative Vitreoretinopathy 2, X-Linked according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1 12.35 LRP5 GSTT2B FZD4 FZD1
2
Show member pathways
12.16 LRP5 FZD4 FZD1
3
Show member pathways
12.12 LRP5 FZD4 FZD1
4
Show member pathways
12.05 LRP5 FZD4 FZD1
5 12.03 LRP5 FZD4 FZD1
6
Show member pathways
11.92 LRP5 GSTT2B FZD4 FZD1
7
Show member pathways
11.79 LRP5 FZD4 FZD1
8 11.65 LRP5 FZD4 FZD1
9 11.34 FZD4 FZD1
10 11.34 LRP5 FZD4 FZD1
11
Show member pathways
10.9 LRP5 FZD4
12 10.25 LRP5 FZD4 FZD1

GO Terms for Exudative Vitreoretinopathy 2, X-Linked

Cellular components related to Exudative Vitreoretinopathy 2, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.26 PPFIA2 NDP FZD4 FZD1
2 Wnt signalosome GO:1990909 8.62 LRP5 FZD1

Biological processes related to Exudative Vitreoretinopathy 2, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.76 NDP LRP5 FZD4 FZD1
2 negative regulation of canonical Wnt signaling pathway GO:0090090 9.61 SDHAF2 FZD4 FZD1
3 Wnt signaling pathway GO:0016055 9.56 NDP LRP5 FZD4 FZD1
4 canonical Wnt signaling pathway GO:0060070 9.54 LRP5 FZD4 FZD1
5 positive regulation of DNA-binding transcription factor activity GO:0051091 9.46 NDP LRP5 FZD4 FZD1
6 non-canonical Wnt signaling pathway GO:0035567 9.4 FZD4 FZD1
7 retinal blood vessel morphogenesis GO:0061304 9.32 LRP5 FZD4
8 retina vasculature morphogenesis in camera-type eye GO:0061299 9.13 NDP LRP5 FZD4
9 extracellular matrix-cell signaling GO:0035426 8.8 NDP LRP5 FZD4

Molecular functions related to Exudative Vitreoretinopathy 2, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 frizzled binding GO:0005109 9.16 NDP FZD1
2 Wnt-protein binding GO:0017147 9.13 LRP5 FZD4 FZD1
3 Wnt-activated receptor activity GO:0042813 8.8 LRP5 FZD4 FZD1

Sources for Exudative Vitreoretinopathy 2, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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