VRCP
MCID: VTR010
MIFTS: 48

Vitreoretinochoroidopathy (VRCP)

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

Aliases & Classifications for Vitreoretinochoroidopathy

MalaCards integrated aliases for Vitreoretinochoroidopathy:

Name: Vitreoretinochoroidopathy 57 72 29 54 6 44 70
Autosomal Dominant Vitreoretinochoroidopathy 12 20 43 58 36 15 70
Advirc 57 12 20 43 58 72
Vitreoretinochoroidopathy Dominant 12 20 43 39
Vitreoretinochoroidopathy with Microcornea, Glaucoma, and Cataract 57 12 43
Vitreoretinochoroidopathy, Autosomal Dominant, with Nanophthalmos 57 12 43
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 2 57 6
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 29 13
Vitreoretinochoroidopathy, Autosomal Dominant 57 72
Vrcp Autosomal Dominant 12 20
Vrcp 57 72
Vitreoretinochoroidopathy Autosomal Dominant with Nanophthalmos, Microcornea, Rod-Cone Dystrophy, Cataract and Posterior Staphyloma 72
Microcornea-Rod-Cone Dystrophy-Cataract-Posterior Staphyloma Syndrome 58
Vitreoretinochoroidopathy with Microcornea-Glaucoma-Cataract 72
Vitreoretinochoroidopathy, Autosomal Dominant; Advirc 57
Mrcs Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
mrcs syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;
autosomal dominant vitreoretinochoroidopathy
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
vitreoretinochoroidopathy:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111569
OMIM® 57 193220
KEGG 36 H02078
SNOMED-CT 67 711162004
MESH via Orphanet 45 C536352
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 71 C2674009 C3888099
UMLS 70 C1860406 C3888099

Summaries for Vitreoretinochoroidopathy

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3086 Definition A rare, genetic, vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees. Epidemiology At least 3 pedigrees have been reported to have ADVIRC. Clinical description Age of onset is variable, but can occur in childhood. ADVIRC is associated with developmental ocular anomalies including microphthalmos/nanophthalmos, microcornea, hypermetropia/high myopia, shallow anterior chamber, angle closure glaucoma, iris dysgenesis, abnormal pupillary ruff, microspherophakia with mild lens opacities ( congenital or early-onset posterior/subcapsular cataract), disc gliosis and optic nerve dysplasia. Some patients may experience vision loss. Color vision is generally normal. Discrete rotatory nystagmus may be present. Retinal edema due to vascular incompetence may also be observed. ADVIRC is characterized by a peripheral retinal circumferential hyperpigmented band, punctuate white retinal opacities, fibrillar condensation of the vitreous, vascular abnormalities and neovascularisation. There are no identifiable systemic or skeletal abnormalities. Etiology ADVIRC is caused by mutations in BEST1 (11q12) (Val86Met, Val235Ala and Tyr236Cys), which encodes bestrophin-1 (expressed specifically in the retinal pigment epithelium (RPE)) forming a calcium activated chloride channel involved in regulation of voltage-dependent calcium channels. These mutations may alter normal splicing of BEST1 and result in in-frame alteration of bestrophin-1. However, functional consequences of such in-frame protein alterations remain undefined. Diagnostic methods Diagnosis of ADVIRC is based on low normal to non-recordable amplitudes of cones and rods on full-field electroretinogram (generalized rod and cone dysfunction), an abnormal electro-oculogram (EOG) (the light rise of EOG is decreased giving a reduced Arden ratio), and normal macular thickness on optical coherence tomography. Funduscopy typically reveals a concentric band of hyperpigmentation in the extreme periphery of one quadrant, with well-defined posterior demarcation, midperipheral chorioretinal atrophy and optic nerve dysplasia. Fundus autofluorescence imaging may show a normal autofluorescence pattern. Goldmann perimetry is often initially normal; however visual field tends to constrict mildly with age. Diagnosis is confirmed by genetic screening of BEST1. Differential diagnosis MRCS syndrome (see this term) is generally more severe than ADVIRC. However, both of these BEST1 -related conditions show retinal pigmentary abnormalities, retinal dystrophy, microcornea, and early-onset cataract, conditions that overlap and likely form a continuum. Differential diagnosis also includes Best vitelliform macular dystrophy (BVMD), adult-onset foveomacular vitelliform dystrophy and autosomal recessive bestrophinopathy (see these terms). Genetic counseling Transmission is autosomal dominant and genetic counseling is possible. Management and treatment Management is mainly symptomatic. When choroidal neovascularization occurs, treatment may require laser photocoagulation or intravitreal delivery of anti-vascular endothelial growth factor agents such as bevacizumab and ranibizumab. Cystoid macular edema can be treated with conventional carbonic anhydrase inhibitors (CAIs) either systemically or topically. If presentation is complicated by glaucoma, conventional treatment may require topical agents to lower intraocular pressure, such as CAIs. Laser iridotomy may be advocated if angle closure glaucoma is a risk. Some cases may require additional surgical intervention. Prognosis Most patients retain a fairly good visual acuity throughout life, although visual acuity may decrease considerably due to macular edema, chorioretinal atrophy, or rarely, retinal detachment and vitreous hemorrhage.

MalaCards based summary : Vitreoretinochoroidopathy, also known as autosomal dominant vitreoretinochoroidopathy, is related to peripheral retinal degeneration and nanophthalmos. An important gene associated with Vitreoretinochoroidopathy is BEST1 (Bestrophin 1), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. Affiliated tissues include eye, retina and endothelial, and related phenotypes are microphthalmia and dyschromatopsia

Disease Ontology : 12 A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has material basis in heterozygous mutation in BEST1 on chromosome 11q12.3.

MedlinePlus Genetics : 43 Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a disorder that affects several parts of the eyes, including the clear gel that fills the eye (the vitreous), the light-sensitive tissue that lines the back of the eye (the retina), and the network of blood vessels within the retina (the choroid). The eye abnormalities in ADVIRC can lead to varying degrees of vision impairment, from mild reduction to complete loss, although some people with the condition have normal vision.The signs and symptoms of ADVIRC vary, even among members of the same family. Many affected individuals have microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved. The area behind the cornea can also be abnormally small, which is described as a shallow anterior chamber. Individuals with ADVIRC can develop increased pressure in the eyes (glaucoma) or clouding of the lens of the eye (cataract). In addition, some people have breakdown (degeneration) of the vitreous or the choroid.A characteristic feature of ADVIRC, visible with a special eye exam, is a circular band of excess coloring (hyperpigmentation) in the retina. This feature can help physicians diagnose the disorder. Affected individuals may also have white spots on the retina.

KEGG : 36 Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a rare, early-onset retinal dystrophy characterised by distinct bands of circumferential pigmentary degeneration in the peripheral retina and developmental eye defects. ADVIRC is caused by mutations in the bestrophin-1 (BEST1) gene. Bestrophin-1 is a transmembrane protein of the basolateral membrane of the retinal pigment epithelium (RPE) that acts as a chloride channel.

UniProtKB/Swiss-Prot : 72 Vitreoretinochoroidopathy, autosomal dominant: A disorder characterized by vitreoretinochoroidal dystrophy. The clinical presentation is variable. VRCP may be associated with cataract, nanophthalmos, microcornea, shallow anterior chamber, and glaucoma.

More information from OMIM: 193220

Related Diseases for Vitreoretinochoroidopathy

Diseases related to Vitreoretinochoroidopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 99)
# Related Disease Score Top Affiliating Genes
1 peripheral retinal degeneration 29.9 PRPH2 BEST1 ABCA4
2 nanophthalmos 29.7 RPE65 PRPH2 BEST1
3 retinitis 29.5 RPE65 PRPH2 PRPF31 ABCA4
4 macular dystrophy, vitelliform, 2 29.2 PRPH2 IMPG2 IMPG1 BEST1
5 eye disease 29.1 RPE65 PRPH2 IMPG2 BEST1 ABCA4
6 cone dystrophy 29.0 RPE65 PRPH2 PRPF31 BEST1 ABCA4
7 retinal degeneration 28.7 RPE65 PRPH2 ELOVL4 BEST2 BEST1 ABCA4
8 bestrophinopathy, autosomal recessive 27.7 RPE65 PRPH2 IMPG2 IMPG1 BEST4 BEST3
9 retinitis pigmentosa 27.2 RPE65 RAB28 PRPH2 PRPF31 IMPG2 IMPG1
10 fundus dystrophy 26.9 RPE65 RAB28 PRPH2 PRPF31 IMPG2 IMPG1
11 vitelliform macular dystrophy 26.6 RPE65 PRPH2 PRPF31 IMPG2 IMPG1 FTH1
12 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 12.0
13 vitreoretinal degeneration 11.0
14 microphthalmia, syndromic 3 10.5
15 microphthalmia, isolated 1 10.5
16 microphthalmia, syndromic 2 10.5
17 microphthalmia, syndromic 1 10.5
18 linear skin defects with multiple congenital anomalies 1 10.5
19 nanophthalmos 1 10.5
20 microphthalmia, syndromic 9 10.5
21 microphthalmia, syndromic 6 10.5
22 microphthalmia, isolated 2 10.5
23 microphthalmia, syndromic 5 10.5
24 microphthalmia, isolated 3 10.5
25 hemochromatosis, type 5 10.2 FTH1 BEST1
26 interval angle-closure glaucoma 10.2 BEST1 ABCA4
27 nonsyndromic retinitis pigmentosa 10.2 BEST1 ABCA4
28 partial central choroid dystrophy 10.2 PRPH2 ABCA4
29 hereditary choroidal atrophy 10.2 PRPH2 ABCA4
30 viral esophagitis 10.2 BEST3 BEST2 BEST1
31 cataract 10.1
32 solar retinopathy 10.1 IMPG2 ABCA4
33 toxic maculopathy 10.1 PRPF31 ABCA4
34 retinitis pigmentosa 32 10.1 IMPG2 ABCA4
35 dowling-degos disease 1 10.1
36 inherited retinal disorder 10.1
37 macular degeneration, age-related, 2 10.1 IMPG2 ABCA4
38 red-green color blindness 10.0 RPE65 ABCA4
39 color blindness 10.0 RPE65 ABCA4
40 chorioretinal scar 10.0 IMPG2 BEST1 ABCA4
41 stargardt disease 1 10.0 PRPH2 BEST1 ABCA4
42 stargardt disease 3 10.0 ELOVL4 ABCA4
43 vitreous disease 10.0 RPE65 BEST1
44 retinal detachment 10.0
45 neuroretinitis 10.0
46 macular retinal edema 10.0
47 yemenite deaf-blind hypopigmentation syndrome 10.0 RPE65 ABCA4
48 occult macular dystrophy 10.0 PRPH2 IMPG2 ABCA4
49 macular dystrophy, dominant cystoid 10.0 RPE65 BEST1 ABCA4
50 retinitis pigmentosa 19 10.0 ELOVL4 ABCA4

Graphical network of the top 20 diseases related to Vitreoretinochoroidopathy:



Diseases related to Vitreoretinochoroidopathy

Symptoms & Phenotypes for Vitreoretinochoroidopathy

Human phenotypes related to Vitreoretinochoroidopathy:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 microphthalmia 31 occasional (7.5%) HP:0000568
2 dyschromatopsia 31 occasional (7.5%) HP:0007641
3 nystagmus 31 HP:0000639
4 blindness 31 HP:0000618
5 strabismus 31 HP:0000486
6 glaucoma 31 HP:0000501
7 retinal detachment 31 HP:0000541
8 vitreous hemorrhage 31 HP:0007902
9 nyctalopia 31 HP:0000662
10 microcornea 31 HP:0000482
11 color vision defect 31 HP:0000551
12 pigmentary retinopathy 31 HP:0000580
13 posterior staphyloma 31 HP:0030856
14 retinal arteriolar constriction 31 HP:0008043
15 retinal neovascularization 31 HP:0030666
16 pulverulent cataract 31 HP:0010693
17 abnormality of chorioretinal pigmentation 31 HP:0007661
18 retinal arteriolar occlusion 31 HP:0007985

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
microcornea
fundus dystrophy
night blindness onset during teen years
cataracts, pulverulent
microphthalmia (some)
more
Laboratory Abnormalities:
reduced electroretinogram (scotopic > photopic) becoming extinguished in older patients

Clinical features from OMIM®:

193220 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Vitreoretinochoroidopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.5 ABCA4 BEST1 ELOVL4 PRPF31 PRPH2 RAB28
2 vision/eye MP:0005391 9.32 ABCA4 BEST1 BEST2 ELOVL4 FTH1 IMPG2

Drugs & Therapeutics for Vitreoretinochoroidopathy

Search Clinical Trials , NIH Clinical Center for Vitreoretinochoroidopathy

Cochrane evidence based reviews: vitreoretinochoroidopathy

Genetic Tests for Vitreoretinochoroidopathy

Genetic tests related to Vitreoretinochoroidopathy:

# Genetic test Affiliating Genes
1 Vitreoretinochoroidopathy 29 BEST1
2 Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 29

Anatomical Context for Vitreoretinochoroidopathy

MalaCards organs/tissues related to Vitreoretinochoroidopathy:

40
Eye, Retina, Endothelial

Publications for Vitreoretinochoroidopathy

Articles related to Vitreoretinochoroidopathy:

(show all 38)
# Title Authors PMID Year
1
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). 54 61 6 57
15452077 2004
2
ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing. 57 6 61
18611979 2009
3
Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree. 61 6 57
11585313 2001
4
A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma. 57 6
12543751 2003
5
[The microphthalmia-retinitis pigmentosa-glaucoma syndrome]. 57 6
13534955 1958
6
Central cone dysfunction in autosomal dominant vitreoretino choroidopathy (ADVIRC). 57 61
16678511 2006
7
Autosomal dominant vitreoretinochoroidopathy. Report of the third family. 61 57
8431155 1993
8
[Vitreoretinochoroidal heredo-dystrophy, microcornea, glaucoma and cataract]. 61 57
8482797 1993
9
Autosomal dominant vitreoretinochoroidopathy (ADVIRC). 57 61
6689931 1984
10
Autosomal dominant vitreoretinochoroidopathy. 61 57
7065944 1982
11
Clinical features of the congenital vitreoretinopathies. 54 61
18309337 2008
12
The anion-selective pore of the bestrophins, a family of chloride channels associated with retinal degeneration. 61 54
16707793 2006
13
[VMD2 and its role in Best's disease and other retinopathies]. 54 61
15627199 2005
14
Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies. 61
32111077 2020
15
AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY: When Molecular Genetic Testing Helps Clinical Diagnosis. 61
29370033 2019
16
Response to Weisschuh's "Comment: a novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype". 61
30632873 2019
17
Comment: A novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype. 61
30632872 2019
18
A novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype. 61
30222024 2018
19
Ocular Histopathology and Immunohistochemical Analysis in the Oldest Known Individual with Autosomal Dominant Vitreoretinochoroidopathy. 61
29774302 2018
20
Long-term changes in autosomal dominant vitreoretinochoroidopathy (ADVIRC). 61
28975401 2018
21
Bestrophin 1 and retinal disease. 61
28153808 2017
22
Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC). 61
27653836 2016
23
Retinitis pigmentosa associated with a mutation in BEST1. 61
29503890 2016
24
Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1. 61
26771239 2016
25
Long-Term Macular Changes in the First Proband of Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Due to a Newly Identified Mutation in BEST1. 61
26849243 2016
26
Progressive Cone Dysfunction and Geographic Atrophy of the Macula in Late Stage Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC). 61
24564716 2016
27
Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1. 61
24560797 2014
28
BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies. 61
21072067 2011
29
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. 61
19375515 2009
30
Biallelic mutation of BEST1 causes a distinct retinopathy in humans. 61
18179881 2008
31
The light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (best-1). 61
16636205 2006
32
[Hereditary retinochoroidal dystrophies. Part 2: differential diagnosis]. 61
15014962 2004
33
Bestrophinopathies 61
20301346 2003
34
Autosomal dominant vitreoretinochoroidopathy with normal electrooculogram in a German family. 61
9498121 1998
35
Autosomal dominant vitreoretinochoroidopathy. 61
9279944 1997
36
Histopathologic study of autosomal dominant vitreoretinochoroidopathy in a 26-year-old woman. 61
7487628 1995
37
Electro-oculography in autosomal dominant vitreoretinochoroidopathy. 61
1444912 1992
38
Histopathologic study of autosomal dominant vitreoretinochoroidopathy. Peripheral annular pigmentary dystrophy of the retina. 61
2516300 1989

Variations for Vitreoretinochoroidopathy

ClinVar genetic disease variations for Vitreoretinochoroidopathy:

6 (show top 50) (show all 65)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BEST1 NM_004183.4(BEST1):c.256G>A (p.Val86Met) SNV Pathogenic 2744 rs121918289 GRCh37: 11:61723198-61723198
GRCh38: 11:61955726-61955726
2 BEST1 NM_004183.4(BEST1):c.707A>G (p.Tyr236Cys) SNV Pathogenic 2746 rs121918291 GRCh37: 11:61724929-61724929
GRCh38: 11:61957457-61957457
3 BEST1 NM_004183.4(BEST1):c.704T>C (p.Val235Ala) SNV Pathogenic 2751 rs267606679 GRCh37: 11:61724926-61724926
GRCh38: 11:61957454-61957454
4 BEST1 NM_004183.4(BEST1):c.715G>A (p.Val239Met) SNV Pathogenic 2745 rs121918290 GRCh37: 11:61725618-61725618
GRCh38: 11:61958146-61958146
5 BEST1 NM_004183.4(BEST1):c.652C>T (p.Arg218Cys) SNV Pathogenic 99735 rs281865238 GRCh37: 11:61724874-61724874
GRCh38: 11:61957402-61957402
6 BEST1 NM_004183.4(BEST1):c.1067G>T (p.Arg356Leu) SNV Uncertain significance 879188 GRCh37: 11:61727482-61727482
GRCh38: 11:61960010-61960010
7 BEST1 , FTH1 NM_002032.3(FTH1):c.*336A>G SNV Uncertain significance 880474 GRCh37: 11:61731863-61731863
GRCh38: 11:61964391-61964391
8 BEST1 NM_004183.4(BEST1):c.229C>A (p.Pro77Thr) SNV Uncertain significance 877527 GRCh37: 11:61722655-61722655
GRCh38: 11:61955183-61955183
9 BEST1 NM_004183.4(BEST1):c.302C>T (p.Pro101Leu) SNV Uncertain significance 877528 GRCh37: 11:61723244-61723244
GRCh38: 11:61955772-61955772
10 BEST1 NM_004183.4(BEST1):c.822C>T (p.Pro274=) SNV Uncertain significance 877569 GRCh37: 11:61725725-61725725
GRCh38: 11:61958253-61958253
11 BEST1 NM_004183.4(BEST1):c.1681A>G (p.Thr561Ala) SNV Uncertain significance 99685 rs281865283 GRCh37: 11:61730307-61730307
GRCh38: 11:61962835-61962835
12 BEST1 , FTH1 NM_002032.3(FTH1):c.*312A>G SNV Uncertain significance 305138 rs756884770 GRCh37: 11:61731887-61731887
GRCh38: 11:61964415-61964415
13 BEST1 NM_004183.4(BEST1):c.1267G>A (p.Glu423Lys) SNV Uncertain significance 877632 GRCh37: 11:61729893-61729893
GRCh38: 11:61962421-61962421
14 BEST1 NM_004183.4(BEST1):c.699A>G (p.Pro233=) SNV Uncertain significance 305121 rs760816505 GRCh37: 11:61724921-61724921
GRCh38: 11:61957449-61957449
15 BEST1 NM_004183.4(BEST1):c.1330G>A (p.Ala444Thr) SNV Uncertain significance 305128 rs765604572 GRCh37: 11:61729956-61729956
GRCh38: 11:61962484-61962484
16 BEST1 NM_004183.4(BEST1):c.139C>T (p.Arg47Cys) SNV Uncertain significance 305117 rs765333778 GRCh37: 11:61719417-61719417
GRCh38: 11:61951945-61951945
17 BEST1 NM_001363592.1(BEST1):c.-125G>A SNV Uncertain significance 305114 rs886048424 GRCh37: 11:61717811-61717811
GRCh38: 11:61950339-61950339
18 BEST1 NM_001363592.1(BEST1):c.-121C>T SNV Uncertain significance 305115 rs562849665 GRCh37: 11:61717815-61717815
GRCh38: 11:61950343-61950343
19 BEST1 NM_004183.4(BEST1):c.-66G>T SNV Uncertain significance 305116 rs886048425 GRCh37: 11:61717870-61717870
GRCh38: 11:61950398-61950398
20 BEST1 NM_004183.4(BEST1):c.1157A>C (p.His386Pro) SNV Uncertain significance 305127 rs886048427 GRCh37: 11:61729783-61729783
GRCh38: 11:61962311-61962311
21 BEST1 NM_004183.4(BEST1):c.1457C>T (p.Pro486Leu) SNV Uncertain significance 305129 rs886048428 GRCh37: 11:61730083-61730083
GRCh38: 11:61962611-61962611
22 BEST1 NM_004183.4(BEST1):c.351G>A (p.Lys117=) SNV Uncertain significance 305120 rs886048426 GRCh37: 11:61723293-61723293
GRCh38: 11:61955821-61955821
23 BEST1 NM_004183.4(BEST1):c.1583A>G (p.Glu528Gly) SNV Uncertain significance 305131 rs757181644 GRCh37: 11:61730209-61730209
GRCh38: 11:61962737-61962737
24 BEST1 NM_004183.4(BEST1):c.813C>T (p.Leu271=) SNV Uncertain significance 305122 rs370397270 GRCh37: 11:61725716-61725716
GRCh38: 11:61958244-61958244
25 BEST1 NM_004183.4(BEST1):c.954C>G (p.Ser318=) SNV Likely benign 305123 rs144231113 GRCh37: 11:61727369-61727369
GRCh38: 11:61959897-61959897
26 FTH1 , BEST1 NM_004183.4(BEST1):c.1143C>T (p.Asp381=) SNV Likely benign 305126 rs112199774 GRCh37: 11:61729769-61729769
GRCh38: 11:61962297-61962297
27 FTH1 , BEST1 NM_004183.4(BEST1):c.*133T>C SNV Likely benign 305133 rs1801621 GRCh37: 11:61731727-61731727
GRCh38: 11:61964255-61964255
28 BEST1 NM_004183.4(BEST1):c.152+6G>T SNV Likely benign 305118 rs764420497 GRCh37: 11:61719436-61719436
GRCh38: 11:61951964-61951964
29 FTH1 , BEST1 NM_004183.4(BEST1):c.1474G>A (p.Val492Ile) SNV Likely benign 193667 rs111326315 GRCh37: 11:61730100-61730100
GRCh38: 11:61962628-61962628
30 BEST1 NM_001363592.1(BEST1):c.-373T>A SNV Likely benign 305111 rs117165769 GRCh37: 11:61717563-61717563
GRCh38: 11:61950091-61950091
31 FTH1 , BEST1 NM_004183.4(BEST1):c.*24C>T SNV Likely benign 305132 rs142482048 GRCh37: 11:61731618-61731618
GRCh38: 11:61964146-61964146
32 BEST1 NM_001363592.1(BEST1):c.-536T>C SNV Likely benign 305109 rs137965157 GRCh37: 11:61717400-61717400
GRCh38: 11:61949928-61949928
33 BEST1 NM_001363592.1(BEST1):c.-428C>T SNV Likely benign 305110 rs77151527 GRCh37: 11:61717508-61717508
GRCh38: 11:61950036-61950036
34 BEST1 , FTH1 NM_002032.3(FTH1):c.387+12A>G SNV Likely benign 305143 rs201120647 GRCh37: 11:61732447-61732447
GRCh38: 11:61964975-61964975
35 BEST1 , FTH1 NM_002032.3(FTH1):c.161A>G (p.Lys54Arg) SNV Likely benign 305145 rs186448909 GRCh37: 11:61732941-61732941
GRCh38: 11:61965469-61965469
36 BEST1 , FTH1 NM_002032.3(FTH1):c.*396A>G SNV Likely benign 305134 rs565138844 GRCh37: 11:61731803-61731803
GRCh38: 11:61964331-61964331
37 BEST1 , FTH1 NM_002032.3(FTH1):c.*389A>G SNV Likely benign 305135 rs1801327 GRCh37: 11:61731810-61731810
GRCh38: 11:61964338-61964338
38 FTH1 , BEST1 NM_004183.4(BEST1):c.1070C>T (p.Ala357Val) SNV Likely benign 305125 rs17854138 GRCh37: 11:61727485-61727485
GRCh38: 11:61960013-61960013
39 BEST1 NM_004183.4(BEST1):c.213C>T (p.Ser71=) SNV Likely benign 305119 rs57132800 GRCh37: 11:61722639-61722639
GRCh38: 11:61955167-61955167
40 FTH1 , BEST1 NM_004183.4(BEST1):c.1519T>C (p.Ser507Pro) SNV Likely benign 305130 rs141071579 GRCh37: 11:61730145-61730145
GRCh38: 11:61962673-61962673
41 FTH1 , BEST1 NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys) SNV Likely benign 99684 rs147192139 GRCh37: 11:61730295-61730295
GRCh38: 11:61962823-61962823
42 BEST1 NM_004183.4(BEST1):c.637-6C>T SNV Likely benign 99732 rs62639356 GRCh37: 11:61724853-61724853
GRCh38: 11:61957381-61957381
43 FTH1 , BEST1 NM_004183.4(BEST1):c.1064G>A (p.Arg355His) SNV Likely benign 305124 rs368356148 GRCh37: 11:61727479-61727479
GRCh38: 11:61960007-61960007
44 FTH1 , BEST1 NM_004183.4(BEST1):c.1699C>T (p.Leu567Phe) SNV Likely benign 99686 rs148060787 GRCh37: 11:61730325-61730325
GRCh38: 11:61962853-61962853
45 BEST1 NM_004183.4(BEST1):c.619C>A (p.Leu207Ile) SNV Likely benign 99727 rs74653691 GRCh37: 11:61724453-61724453
GRCh38: 11:61956981-61956981
46 BEST1 NM_004183.4(BEST1):c.422G>A (p.Arg141His) SNV Likely benign 2740 rs121918284 GRCh37: 11:61723364-61723364
GRCh38: 11:61955892-61955892
47 BEST1 NM_004183.4(BEST1):c.219C>A (p.Ile73=) SNV Benign 99693 rs1109748 GRCh37: 11:61722645-61722645
GRCh38: 11:61955173-61955173
48 FTH1 , BEST1 NM_004183.4(BEST1):c.1557C>T (p.Ser519=) SNV Benign 99680 rs1800008 GRCh37: 11:61730183-61730183
GRCh38: 11:61962711-61962711
49 FTH1 , BEST1 NM_004183.4(BEST1):c.1608T>C (p.Thr536=) SNV Benign 99682 rs1800009 GRCh37: 11:61730234-61730234
GRCh38: 11:61962762-61962762
50 BEST1 NM_004183.4(BEST1):c.991C>T (p.Arg331Trp) SNV Benign 878590 GRCh37: 11:61727406-61727406
GRCh38: 11:61959934-61959934

UniProtKB/Swiss-Prot genetic disease variations for Vitreoretinochoroidopathy:

72
# Symbol AA change Variation ID SNP ID
1 BEST1 p.Val86Met VAR_058274 rs121918289
2 BEST1 p.Tyr236Cys VAR_058275 rs121918291
3 BEST1 p.Val239Met VAR_058276 rs121918290

Expression for Vitreoretinochoroidopathy

Search GEO for disease gene expression data for Vitreoretinochoroidopathy.

Pathways for Vitreoretinochoroidopathy

GO Terms for Vitreoretinochoroidopathy

Cellular components related to Vitreoretinochoroidopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10 RPE65 RAB28 PRPH2 IMPG2 FTH1 ELOVL4
2 integral component of membrane GO:0016021 9.97 PRPH2 IMPG2 FTH1 ELOVL4 BEST4 BEST3
3 photoreceptor outer segment GO:0001750 9.33 PRPH2 IMPG1 ABCA4
4 interphotoreceptor matrix GO:0033165 8.96 IMPG2 IMPG1
5 chloride channel complex GO:0034707 8.92 BEST4 BEST3 BEST2 BEST1

Biological processes related to Vitreoretinochoroidopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.67 BEST4 BEST3 BEST2 BEST1
2 response to stimulus GO:0050896 9.62 RPE65 PRPH2 BEST1 ABCA4
3 chloride transmembrane transport GO:1902476 9.46 BEST4 BEST3 BEST2 BEST1
4 detection of light stimulus involved in visual perception GO:0050908 9.43 RPE65 PRPH2 BEST1
5 chloride transport GO:0006821 9.26 BEST4 BEST3 BEST2 BEST1
6 visual perception GO:0007601 9.1 RPE65 PRPH2 IMPG2 IMPG1 BEST1 ABCA4

Molecular functions related to Vitreoretinochoroidopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hyaluronic acid binding GO:0005540 8.96 IMPG2 IMPG1
2 chloride channel activity GO:0005254 8.92 BEST4 BEST3 BEST2 BEST1

Sources for Vitreoretinochoroidopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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46 MGI
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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