VRCP
MCID: VTR010
MIFTS: 51

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 56 73 29 54 6 43 71
Autosomal Dominant Vitreoretinochoroidopathy 12 52 25 58 36 15 71
Advirc 56 12 52 25 58 73
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 56 29 13 6
Vitreoretinochoroidopathy Dominant 12 52 25 39
Vitreoretinochoroidopathy with Microcornea, Glaucoma, and Cataract 56 12 25
Vitreoretinochoroidopathy, Autosomal Dominant, with Nanophthalmos 56 12 25
Vitreoretinochoroidopathy, Autosomal Dominant 56 73
Vrcp Autosomal Dominant 12 52
Vrcp 56 73
Vitreoretinochoroidopathy Autosomal Dominant with Nanophthalmos, Microcornea, Rod-Cone Dystrophy, Cataract and Posterior Staphyloma 73
Microcornea-Rod-Cone Dystrophy-Cataract-Posterior Staphyloma Syndrome 58
Vitreoretinochoroidopathy with Microcornea-Glaucoma-Cataract 73
Vitreoretinochoroidopathy, Autosomal Dominant; Advirc 56
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:

56
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 56 193220
KEGG 36 H02078
SNOMED-CT 67 711162004
MESH via Orphanet 44 C536352
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 72 C2674009 C3888099
UMLS 71 C1860406 C3888099

Summaries for Vitreoretinochoroidopathy

NIH Rare Diseases : 52 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. Visit the Orphanet disease page for more resources.

MalaCards based summary : Vitreoretinochoroidopathy, also known as autosomal dominant vitreoretinochoroidopathy, is related to peripheral retinal degeneration and cone dystrophy. 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.

Genetics Home Reference : 25 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 : 73 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 94)
# Related Disease Score Top Affiliating Genes
1 peripheral retinal degeneration 29.5 PRPH2 PRPF31 ABCA4
2 cone dystrophy 29.5 RPE65 PRPH2 BEST1 ABCA4
3 retinitis 29.1 RPE65 PRPH2 PRPF31 ABCA4
4 retinal degeneration 28.6 RPE65 PRPH2 ELOVL4 BEST2 BEST1 ABCA4
5 eye disease 28.1 RPE65 PRPH2 PRPF31 IMPG2 BEST1 ABCA4
6 inherited retinal disorder 27.9 RPE65 PRPH2 PRPF31 IMPG2 ELOVL4 BEST1
7 vitelliform macular dystrophy 26.6 RPE65 PRPH2 IMPG2 IMPG1 FTH1 ELOVL4
8 retinitis pigmentosa 26.4 RPE65 RAB28 PRPH2 PRPF31 IMPG2 IMPG1
9 fundus dystrophy 25.9 RPE65 RAB28 PRPH2 PRPF31 IMPG2 IMPG1
10 vitreoretinal degeneration 11.6
11 microphthalmia, syndromic 3 10.5
12 microphthalmia, isolated 1 10.5
13 microphthalmia, syndromic 2 10.5
14 microphthalmia, syndromic 4 10.5
15 microphthalmia, syndromic 1 10.5
16 linear skin defects with multiple congenital anomalies 1 10.5
17 nanophthalmos 1 10.5
18 microphthalmia, syndromic 9 10.5
19 microphthalmia, syndromic 6 10.5
20 microphthalmia, isolated 2 10.5
21 microphthalmia, syndromic 5 10.5
22 microphthalmia, isolated 3 10.5
23 cataract 10.3
24 viral esophagitis 10.3 BEST3 BEST2
25 dowling-degos disease 1 10.3
26 hemochromatosis, type 5 10.2 FTH1 BEST1
27 interval angle-closure glaucoma 10.2 BEST1 ABCA4
28 retinal detachment 10.2
29 neuroretinitis 10.2
30 macular retinal edema 10.2
31 partial central choroid dystrophy 10.2 PRPH2 ABCA4
32 hereditary choroidal atrophy 10.2 PRPH2 ABCA4
33 solar retinopathy 10.1 IMPG2 ABCA4
34 retinitis pigmentosa 32 10.1 IMPG2 ABCA4
35 vcan-related vitreoretinopathy 10.1
36 macular dystrophy, vitelliform, 2 10.0
37 joint laxity, short stature, and myopia 10.0
38 nanophthalmos 10.0
39 microphthalmia 10.0
40 myopia 10.0
41 retinal ischemia 10.0
42 acute closed-angle glaucoma 10.0
43 retinal vascular disease 10.0
44 congenital nystagmus 10.0
45 pathologic nystagmus 10.0
46 vitreous detachment 10.0
47 best vitelliform macular dystrophy 10.0
48 vitreoretinopathy 10.0
49 macular degeneration, age-related, 2 10.0 IMPG2 ABCA4
50 chorioretinal scar 10.0 IMPG2 BEST1 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 blindness 31 HP:0000618
4 nystagmus 31 HP:0000639
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:

56
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

MGI Mouse Phenotypes related to Vitreoretinochoroidopathy:

45
# 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 9.23 ABCA4 BEST1 BEST2 ELOVL4 PRPF31 PRPH2

Drugs & Therapeutics for Vitreoretinochoroidopathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effects Of Noninvasive Ventilation During The Treadmill Walking Test On Cardiorespiratory System, Walk Distance, And Thoracoabdominal Kinematics Of Patients With Cystic Fibrosis: Clinical Randomized Controlled Trial. Completed NCT01987271
2 Development of Induced Pluripotent Stem Cells From Patients With Best Disease and Other Inherited Retinal Degenerative Diseases. Active, not recruiting NCT02162953

Search 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, Testes

Publications for Vitreoretinochoroidopathy

Articles related to Vitreoretinochoroidopathy:

(show all 39)
# Title Authors PMID Year
1
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). 6 56 61 54
15452077 2004
2
ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing. 61 6 56
18611979 2009
3
A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma. 56 6
12543751 2003
4
[The microphthalmia-retinitis pigmentosa-glaucoma syndrome]. 6 56
13534955 1958
5
Central cone dysfunction in autosomal dominant vitreoretino choroidopathy (ADVIRC). 56 61
16678511 2006
6
Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree. 6 61
11585313 2001
7
Autosomal dominant vitreoretinochoroidopathy. Report of the third family. 61 56
8431155 1993
8
Autosomal dominant vitreoretinochoroidopathy (ADVIRC). 56 61
6689931 1984
9
Autosomal dominant vitreoretinochoroidopathy. 61 56
7065944 1982
10
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
11
Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome. 56
16458719 2006
12
Clinical features of the congenital vitreoretinopathies. 54 61
18309337 2008
13
The anion-selective pore of the bestrophins, a family of chloride channels associated with retinal degeneration. 61 54
16707793 2006
14
[VMD2 and its role in Best's disease and other retinopathies]. 61 54
15627199 2005
15
Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies. 61
32111077 2020
16
AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY: When Molecular Genetic Testing Helps Clinical Diagnosis. 61
29370033 2019
17
Comment: A novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype. 61
30632872 2019
18
Response to Weisschuh's "Comment: a novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype". 61
30632873 2019
19
A novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype. 61
30222024 2018
20
Ocular Histopathology and Immunohistochemical Analysis in the Oldest Known Individual with Autosomal Dominant Vitreoretinochoroidopathy. 61
29774302 2018
21
Long-term changes in autosomal dominant vitreoretinochoroidopathy (ADVIRC). 61
28975401 2018
22
Bestrophin 1 and retinal disease. 61
28153808 2017
23
Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC). 61
27653836 2016
24
Retinitis pigmentosa associated with a mutation in BEST1. 61
29503890 2016
25
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
26
Long-Term Macular Changes in the First Proband of Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Due to a Newly Identified Mutation in BEST1. 61
26849243 2016
27
Progressive Cone Dysfunction and Geographic Atrophy of the Macula in Late Stage Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC). 61
24564716 2016
28
Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1. 61
24560797 2014
29
BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies. 61
21072067 2011
30
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. 61
19375515 2009
31
Biallelic mutation of BEST1 causes a distinct retinopathy in humans. 61
18179881 2008
32
The light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (best-1). 61
16636205 2006
33
[Hereditary retinochoroidal dystrophies. Part 2: differential diagnosis]. 61
15014962 2004
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
[Vitreoretinochoroidal heredo-dystrophy, microcornea, glaucoma and cataract]. 61
8482797 1993
38
Electro-oculography in autosomal dominant vitreoretinochoroidopathy. 61
1444912 1992
39
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:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BEST1 NM_004183.4(BEST1):c.256G>A (p.Val86Met)SNV Pathogenic 2744 rs121918289 11:61723198-61723198 11:61955726-61955726
2 BEST1 NM_004183.4(BEST1):c.715G>A (p.Val239Met)SNV Pathogenic 2745 rs121918290 11:61725618-61725618 11:61958146-61958146
3 BEST1 NM_004183.4(BEST1):c.707A>G (p.Tyr236Cys)SNV Pathogenic 2746 rs121918291 11:61724929-61724929 11:61957457-61957457
4 BEST1 NM_004183.4(BEST1):c.704T>C (p.Val235Ala)SNV Pathogenic 2751 rs267606679 11:61724926-61724926 11:61957454-61957454
5 BEST1 NM_004183.4(BEST1):c.652C>T (p.Arg218Cys)SNV Pathogenic/Likely pathogenic 99735 rs281865238 11:61724874-61724874 11:61957402-61957402
6 BEST1 NM_004183.4(BEST1):c.602T>C (p.Ile201Thr)SNV Conflicting interpretations of pathogenicity 99726 rs199529046 11:61724436-61724436 11:61956964-61956964
7 BEST1 , FTH1 NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys)SNV Conflicting interpretations of pathogenicity 99684 rs147192139 11:61730295-61730295 11:61962823-61962823
8 BEST1 , FTH1 NM_004183.4(BEST1):c.1699C>T (p.Leu567Phe)SNV Conflicting interpretations of pathogenicity 99686 rs148060787 11:61730325-61730325 11:61962853-61962853
9 BEST1 NM_004183.4(BEST1):c.637-6C>TSNV Conflicting interpretations of pathogenicity 99732 rs62639356 11:61724853-61724853 11:61957381-61957381
10 BEST1 , FTH1 NM_004183.4(BEST1):c.1064G>A (p.Arg355His)SNV Conflicting interpretations of pathogenicity 305124 rs368356148 11:61727479-61727479 11:61960007-61960007
11 BEST1 , FTH1 NM_004183.4(BEST1):c.1070C>T (p.Ala357Val)SNV Conflicting interpretations of pathogenicity 305125 rs17854138 11:61727485-61727485 11:61960013-61960013
12 BEST1 , FTH1 NM_004183.4(BEST1):c.1143C>T (p.Asp381=)SNV Conflicting interpretations of pathogenicity 305126 rs112199774 11:61729769-61729769 11:61962297-61962297
13 BEST1 NM_004183.4(BEST1):c.991C>T (p.Arg331Trp)SNV Conflicting interpretations of pathogenicity 878590 11:61727406-61727406 11:61959934-61959934
14 BEST1 NM_004183.4(BEST1):c.*45T>CSNV Conflicting interpretations of pathogenicity 878688 11:61731639-61731639 11:61964167-61964167
15 BEST1 NM_004183.4(BEST1):c.482-15C>TSNV Conflicting interpretations of pathogenicity 878549 11:61724301-61724301 11:61956829-61956829
16 BEST1 NM_004183.4(BEST1):c.422G>A (p.Arg141His)SNV Conflicting interpretations of pathogenicity 2740 rs121918284 11:61723364-61723364 11:61955892-61955892
17 BEST1 NM_004183.4(BEST1):c.495G>A (p.Pro165=)SNV Conflicting interpretations of pathogenicity 289316 rs182941675 11:61724329-61724329 11:61956857-61956857
18 BEST1 NM_004183.4(BEST1):c.954C>G (p.Ser318=)SNV Conflicting interpretations of pathogenicity 305123 rs144231113 11:61727369-61727369 11:61959897-61959897
19 BEST1 NM_004183.4(BEST1):c.152+6G>TSNV Conflicting interpretations of pathogenicity 305118 rs764420497 11:61719436-61719436 11:61951964-61951964
20 BEST1 , FTH1 NM_004183.4(BEST1):c.1519T>C (p.Ser507Pro)SNV Conflicting interpretations of pathogenicity 305130 rs141071579 11:61730145-61730145 11:61962673-61962673
21 BEST1 , FTH1 NM_002032.3(FTH1):c.*389A>GSNV Conflicting interpretations of pathogenicity 305135 rs1801327 11:61731810-61731810 11:61964338-61964338
22 BEST1 , FTH1 NM_004183.4(BEST1):c.*24C>TSNV Conflicting interpretations of pathogenicity 305132 rs142482048 11:61731618-61731618 11:61964146-61964146
23 BEST1 , FTH1 NM_002032.3(FTH1):c.*396A>GSNV Conflicting interpretations of pathogenicity 305134 rs565138844 11:61731803-61731803 11:61964331-61964331
24 BEST1 NM_004183.4(BEST1):c.1054G>A (p.Ala352Thr)SNV Conflicting interpretations of pathogenicity 386501 rs147409760 11:61727469-61727469 11:61959997-61959997
25 BEST1 NM_001363592.1(BEST1):c.-125G>ASNV Uncertain significance 305114 rs886048424 11:61717811-61717811 11:61950339-61950339
26 BEST1 NM_004183.4(BEST1):c.699A>G (p.Pro233=)SNV Uncertain significance 305121 rs760816505 11:61724921-61724921 11:61957449-61957449
27 BEST1 NM_004183.4(BEST1):c.1157A>C (p.His386Pro)SNV Uncertain significance 305127 rs886048427 11:61729783-61729783 11:61962311-61962311
28 BEST1 NM_004183.4(BEST1):c.1583A>G (p.Glu528Gly)SNV Uncertain significance 305131 rs757181644 11:61730209-61730209 11:61962737-61962737
29 BEST1 NM_004183.4(BEST1):c.139C>T (p.Arg47Cys)SNV Uncertain significance 305117 rs765333778 11:61719417-61719417 11:61951945-61951945
30 BEST1 NM_004183.4(BEST1):c.351G>A (p.Lys117=)SNV Uncertain significance 305120 rs886048426 11:61723293-61723293 11:61955821-61955821
31 BEST1 NM_004183.4(BEST1):c.1330G>A (p.Ala444Thr)SNV Uncertain significance 305128 rs765604572 11:61729956-61729956 11:61962484-61962484
32 BEST1 NM_004183.4(BEST1):c.1457C>T (p.Pro486Leu)SNV Uncertain significance 305129 rs886048428 11:61730083-61730083 11:61962611-61962611
33 BEST1 , FTH1 NM_002032.3(FTH1):c.*312A>GSNV Uncertain significance 305138 rs756884770 11:61731887-61731887 11:61964415-61964415
34 BEST1 NM_004183.4(BEST1):c.-66G>TSNV Uncertain significance 305116 rs886048425 11:61717870-61717870 11:61950398-61950398
35 BEST1 NM_004183.4(BEST1):c.813C>T (p.Leu271=)SNV Uncertain significance 305122 rs370397270 11:61725716-61725716 11:61958244-61958244
36 BEST1 NM_001363592.1(BEST1):c.-121C>TSNV Uncertain significance 305115 rs562849665 11:61717815-61717815 11:61950343-61950343
37 BEST1 , FTH1 NM_002032.3(FTH1):c.*336A>GSNV Uncertain significance 880474 11:61731863-61731863 11:61964391-61964391
38 BEST1 NM_004183.4(BEST1):c.1067G>T (p.Arg356Leu)SNV Uncertain significance 879188 11:61727482-61727482 11:61960010-61960010
39 BEST1 NM_004183.4(BEST1):c.1267G>A (p.Glu423Lys)SNV Uncertain significance 877632 11:61729893-61729893 11:61962421-61962421
40 BEST1 NM_004183.4(BEST1):c.229C>A (p.Pro77Thr)SNV Uncertain significance 877527 11:61722655-61722655 11:61955183-61955183
41 BEST1 NM_004183.4(BEST1):c.302C>T (p.Pro101Leu)SNV Uncertain significance 877528 11:61723244-61723244 11:61955772-61955772
42 BEST1 NM_004183.4(BEST1):c.822C>T (p.Pro274=)SNV Uncertain significance 877569 11:61725725-61725725 11:61958253-61958253
43 BEST1 NM_004183.4(BEST1):c.1681A>G (p.Thr561Ala)SNV Uncertain significance 99685 rs281865283 11:61730307-61730307 11:61962835-61962835
44 BEST1 , FTH1 NM_004183.4(BEST1):c.*133T>CSNV Likely benign 305133 rs1801621 11:61731727-61731727 11:61964255-61964255
45 BEST1 NM_001363592.1(BEST1):c.-536T>CSNV Likely benign 305109 rs137965157 11:61717400-61717400 11:61949928-61949928
46 BEST1 NM_001363592.1(BEST1):c.-428C>TSNV Likely benign 305110 rs77151527 11:61717508-61717508 11:61950036-61950036
47 BEST1 NM_001363592.1(BEST1):c.-373T>ASNV Likely benign 305111 rs117165769 11:61717563-61717563 11:61950091-61950091
48 BEST1 , FTH1 NM_002032.3(FTH1):c.387+12A>GSNV Benign/Likely benign 305143 rs201120647 11:61732447-61732447 11:61964975-61964975
49 BEST1 , FTH1 NM_002032.3(FTH1):c.161A>G (p.Lys54Arg)SNV Benign/Likely benign 305145 rs186448909 11:61732941-61732941 11:61965469-61965469
50 BEST1 NM_004183.4(BEST1):c.213C>T (p.Ser71=)SNV Benign/Likely benign 305119 rs57132800 11:61722639-61722639 11:61955167-61955167

UniProtKB/Swiss-Prot genetic disease variations for Vitreoretinochoroidopathy:

73
# 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 integral component of membrane GO:0016021 9.91 PRPH2 IMPG2 FTH1 ELOVL4 BEST4 BEST3
2 membrane GO:0016020 9.9 RPE65 RAB28 PRPH2 IMPG2 FTH1 ELOVL4
3 photoreceptor outer segment GO:0001750 9.13 PRPH2 IMPG1 ABCA4
4 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 9.26 RPE65 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
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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