EVR2
MCID: EXD009
MIFTS: 32

Exudative Vitreoretinopathy 2, X-Linked (EVR2)

Categories: Cardiovascular diseases, Eye diseases, Genetic diseases

Aliases & Classifications for Exudative Vitreoretinopathy 2, X-Linked

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

Name: Exudative Vitreoretinopathy 2, X-Linked 58
Familial Exudative Vitreoretinopathy, X-Linked 30 6
Fevrx 58 76
Evr2 58 76
Evrx 58 76
Exudative Vitreoretinopathy, Familial, X-Linked Recessive 74
Vitreoretinopathy, Exudative, X-Linked, Type 2 41
X-Linked Familial Exudative Vitreoretinopathy 76
Exudative Vitreoretinopathy, Familial, 2 58
Exudative Vitreoretinopathy Familial 2 76
Vitreoretinopathy, Exudative 2 76
Fevr, X-Linked; Fevrx 58
Fevr, X-Linked 58
Fevr X-Linked 76

Characteristics:

OMIM:

58
Inheritance:
x-linked recessive x-linked dominant (1 family)

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


HPO:

33
exudative vitreoretinopathy 2, x-linked:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Exudative Vitreoretinopathy 2, X-Linked

OMIM : 58 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 familial exudative vitreoretinopathy, x-linked, is related to exudative vitreoretinopathy and norrie disease. An important gene associated with Exudative Vitreoretinopathy 2, X-Linked is NDP (Norrin Cystine Knot Growth Factor NDP). The drugs Ribavirin and interferons have been mentioned in the context of this disorder. Affiliated tissues include retina and eye, and related phenotypes are nystagmus and microphthalmia

UniProtKB/Swiss-Prot : 76 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

Diseases related to Exudative Vitreoretinopathy 2, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 exudative vitreoretinopathy 10.8
2 norrie disease 10.4

Symptoms & Phenotypes for Exudative Vitreoretinopathy 2, X-Linked

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

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 occasional (7.5%) HP:0000639
2 microphthalmia 33 occasional (7.5%) HP:0000568
3 retinal vascular tortuosity 33 occasional (7.5%) HP:0012841
4 retinal neovascularization 33 occasional (7.5%) HP:0030666
5 retinal hole 33 occasional (7.5%) HP:0011530
6 reduced visual acuity 33 HP:0007663
7 deeply set eye 33 HP:0000490
8 retinal detachment 33 HP:0000541
9 peripheral vitreous opacities 33 HP:0007710
10 falciform retinal fold 33 HP:0001493
11 exudative vitreoretinopathy 33 HP:0030490
12 intraretinal exudate 33 HP:0007989
13 subretinal exudate 33 HP:0011532

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
retinal detachment
nystagmus (in some patients)
decreased visual acuity
microphthalmia (rare)
retinal fold
more

Clinical features from OMIM:

305390

Drugs & Therapeutics for Exudative Vitreoretinopathy 2, X-Linked

Drugs for Exudative Vitreoretinopathy 2, X-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ribavirin Approved Phase 1 36791-04-5 37542
2 interferons Phase 1
3 Antiviral Agents Phase 1
4 Anti-Infective Agents Phase 1
5 Pharmaceutical Solutions Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety, Antiviral Activity and PK of MRD of BI 201335 in Chronic Hepatitis C Patients Both Treatment Naive and -Experienced Completed NCT00793793 Phase 1 BI201335;BI201335;BI201335;BI201335;Placebo

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 30 NDP

Anatomical Context for Exudative Vitreoretinopathy 2, X-Linked

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

42
Retina, Eye

Publications for Exudative Vitreoretinopathy 2, X-Linked

Articles related to Exudative Vitreoretinopathy 2, X-Linked:

(show all 11)
# Title Authors Year
1
A Novel Pathogenic Variant in NDP Gene With Incomplete Penetrance Manifests as X-Linked Familial Exudative Vitreoretinopathy. ( 30768221 )
2019
2
PHENOTYPIC HETEROGENEITY IN A FAMILY WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH PREVENTION OF VISUAL LOSS IN AN AFFECTED MALE CHILD WITH LASER TREATMENT IN INFANCY. ( 30074570 )
2018
3
A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy. ( 27720678 )
2016
4
Differential diagnosis of Norrie disease and X-linked familial exudative vitreoretinopathy (XL-FEVR) based on clinical and molecular evaluation. ( 30088388 )
2016
5
Genetic evaluation to establish the diagnosis of X-linked familial exudative vitreoretinopathy. ( 17050281 )
2006
6
Evidence for genetic heterogeneity in X-linked familial exudative vitreoretinopathy. ( 9299244 )
1997
7
Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy. ( 7558002 )
1995
8
X-linked familial exudative vitreoretinopathy. Report of one family. ( 7624602 )
1995
9
X-linked familial exudative vitreoretinopathy (FEVR): results of DNA analysis with candidate genes. ( 8418643 )
1993
10
A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. ( 8252044 )
1993
11
Mapping studies of an X-linked familial exudative vitreoretinopathy. ( 8099790 )
1993

Variations for Exudative Vitreoretinopathy 2, X-Linked

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

76 (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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NDP NM_000266.3(NDP): c.370C> T (p.Leu124Phe) single nucleotide variant Pathogenic rs28933684 GRCh37 Chromosome X, 43809077: 43809077
2 NDP NM_000266.3(NDP): c.370C> T (p.Leu124Phe) single nucleotide variant Pathogenic rs28933684 GRCh38 Chromosome X, 43949831: 43949831
3 NDP NM_000266.3(NDP): c.361C> T (p.Arg121Trp) single nucleotide variant Likely pathogenic rs104894878 GRCh37 Chromosome X, 43809086: 43809086
4 NDP NM_000266.3(NDP): c.361C> T (p.Arg121Trp) single nucleotide variant Likely pathogenic rs104894878 GRCh38 Chromosome X, 43949840: 43949840
5 NDP NM_000266.3(NDP): c.328T> G (p.Cys110Gly) single nucleotide variant Pathogenic rs104894876 GRCh37 Chromosome X, 43809119: 43809119
6 NDP NM_000266.3(NDP): c.328T> G (p.Cys110Gly) single nucleotide variant Pathogenic rs104894876 GRCh38 Chromosome X, 43949873: 43949873
7 NDP NM_000266.3(NDP): c.362G> T (p.Arg121Leu) single nucleotide variant Pathogenic rs137852220 GRCh37 Chromosome X, 43809085: 43809085
8 NDP NM_000266.3(NDP): c.362G> T (p.Arg121Leu) single nucleotide variant Pathogenic rs137852220 GRCh38 Chromosome X, 43949839: 43949839
9 NDP NM_000266.3(NDP): c.200G> T (p.Gly67Val) single nucleotide variant Likely pathogenic rs1460859456 GRCh37 Chromosome X, 43809247: 43809247
10 NDP NM_000266.3(NDP): c.200G> T (p.Gly67Val) single nucleotide variant Likely pathogenic rs1460859456 GRCh38 Chromosome X, 43950001: 43950001

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

GO Terms for Exudative Vitreoretinopathy 2, X-Linked

Sources for Exudative Vitreoretinopathy 2, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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