MCID: VTR010
MIFTS: 34

Vitreoretinochoroidopathy

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Vitreoretinochoroidopathy

MalaCards integrated aliases for Vitreoretinochoroidopathy:

Name: Vitreoretinochoroidopathy 57 75 29 55 6 73
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 57 29 13 6
Autosomal Dominant Vitreoretinochoroidopathy 59 37 73
Advirc 57 59 75
Vitreoretinochoroidopathy, Autosomal Dominant 57 75
Vrcp 57 75
Vitreoretinochoroidopathy Autosomal Dominant with Nanophthalmos, Microcornea, Rod-Cone Dystrophy, Cataract and Posterior Staphyloma 75
Microcornea-Rod-Cone Dystrophy-Cataract-Posterior Staphyloma Syndrome 59
Vitreoretinochoroidopathy with Microcornea, Glaucoma, and Cataract 57
Vitreoretinochoroidopathy, Autosomal Dominant, with Nanophthalmos 57
Vitreoretinochoroidopathy with Microcornea-Glaucoma-Cataract 75
Vitreoretinochoroidopathy, Autosomal Dominant; Advirc 57
Mrcs Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal dominant


HPO:

32
vitreoretinochoroidopathy:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 193220
UMLS via Orphanet 74 C2674009 C3888099
ICD10 via Orphanet 34 H35.5
MESH via Orphanet 45 C536352
KEGG 37 H02078

Summaries for Vitreoretinochoroidopathy

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.

MalaCards based summary : Vitreoretinochoroidopathy, also known as microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, is related to vitreoretinochoroidopathy dominant and cataract. An important gene associated with Vitreoretinochoroidopathy is BEST1 (Bestrophin 1). Affiliated tissues include eye, retina and testes, and related phenotypes are microcornea and strabismus

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 193220

Related Diseases for Vitreoretinochoroidopathy

Diseases in the Vitreoretinochoroidopathy family:

Vitreoretinochoroidopathy Dominant

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

# Related Disease Score Top Affiliating Genes
1 vitreoretinochoroidopathy dominant 12.5
2 cataract 10.5
3 cone dystrophy 10.5
4 retinitis 9.9
5 bestrophinopathy, autosomal recessive 9.3 BEST1 LOC107984334
6 retinitis pigmentosa 50 9.2 BEST1 LOC107984334
7 bestrophinopathy 9.1 BEST1 LOC107984334
8 retinitis pigmentosa 8.2 BEST1 FTH1 LOC107984334

Graphical network of the top 20 diseases related to Vitreoretinochoroidopathy:



Diseases related to Vitreoretinochoroidopathy

Symptoms & Phenotypes for Vitreoretinochoroidopathy

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Vitreoretinochoroidopathy:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 microcornea 32 HP:0000482
2 strabismus 32 HP:0000486
3 glaucoma 32 HP:0000501
4 retinal detachment 32 HP:0000541
5 abnormality of color vision 32 HP:0000551
6 microphthalmia 32 occasional (7.5%) HP:0000568
7 pigmentary retinopathy 32 HP:0000580
8 nystagmus 32 HP:0000639
9 nyctalopia 32 HP:0000662
10 dyschromatopsia 32 occasional (7.5%) HP:0007641
11 abnormality of chorioretinal pigmentation 32 HP:0007661
12 vitreous hemorrhage 32 HP:0007902
13 retinal arteriolar occlusion 32 HP:0007985
14 retinal arteriolar constriction 32 HP:0008043
15 pulverulent cataract 32 HP:0010693

Drugs & Therapeutics for Vitreoretinochoroidopathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Stem Cell Models of Best Disease and Other Retinal Degenerative Diseases. Active, not recruiting NCT02162953

Search NIH Clinical Center for 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:

41
Eye, Retina, Testes

Publications for Vitreoretinochoroidopathy

Articles related to Vitreoretinochoroidopathy:

(show all 20)
# Title Authors Year
1
Ocular Histopathology and Immunohistochemical Analysis in the Oldest Known Individual with Autosomal Dominant Vitreoretinochoroidopathy. ( 29774302 )
2018
2
AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY: When Molecular Genetic Testing Helps Clinical Diagnosis. ( 29370033 )
2018
3
Long-term changes in autosomal dominant vitreoretinochoroidopathy (ADVIRC). ( 28975401 )
2018
4
Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC). ( 27653836 )
2016
5
Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256Ga88&amp;gt;a88A Mutation in BEST1. ( 26771239 )
2016
6
Long-Term Macular Changes in the First Proband of Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Due to a Newly Identified Mutation in BEST1. ( 26849243 )
2016
7
Progressive Cone Dysfunction and Geographic Atrophy of the Macula in Late Stage Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC). ( 24564716 )
2014
8
BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies. ( 21072067 )
2011
9
Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome. ( 16458719 )
2006
10
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). ( 15452077 )
2004
11
A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma. ( 12543751 )
2003
12
Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree. ( 11585313 )
2001
13
Autosomal dominant vitreoretinochoroidopathy with normal electrooculogram in a German family. ( 9498121 )
1998
14
Autosomal dominant vitreoretinochoroidopathy. ( 9279944 )
1997
15
Histopathologic study of autosomal dominant vitreoretinochoroidopathy in a 26-year-old woman. ( 7487628 )
1995
16
Autosomal dominant vitreoretinochoroidopathy. Report of the third family. ( 8431155 )
1993
17
Electro-oculography in autosomal dominant vitreoretinochoroidopathy. ( 1444912 )
1992
18
Histopathologic study of autosomal dominant vitreoretinochoroidopathy. Peripheral annular pigmentary dystrophy of the retina. ( 2516300 )
1989
19
Autosomal dominant vitreoretinochoroidopathy (ADVIRC). ( 6689931 )
1984
20
Autosomal dominant vitreoretinochoroidopathy. ( 7065944 )
1982

Variations for Vitreoretinochoroidopathy

UniProtKB/Swiss-Prot genetic disease variations for Vitreoretinochoroidopathy:

75
# 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

ClinVar genetic disease variations for Vitreoretinochoroidopathy:

6
(show top 50) (show all 78)
# Gene Variation Type Significance SNP ID Assembly Location
1 BEST1 NM_004183.3(BEST1): c.256G> A (p.Val86Met) single nucleotide variant Pathogenic rs121918289 GRCh37 Chromosome 11, 61723198: 61723198
2 BEST1 NM_004183.3(BEST1): c.256G> A (p.Val86Met) single nucleotide variant Pathogenic rs121918289 GRCh38 Chromosome 11, 61955726: 61955726
3 BEST1 NM_004183.3(BEST1): c.715G> A (p.Val239Met) single nucleotide variant Pathogenic rs121918290 GRCh37 Chromosome 11, 61725618: 61725618
4 BEST1 NM_004183.3(BEST1): c.715G> A (p.Val239Met) single nucleotide variant Pathogenic rs121918290 GRCh38 Chromosome 11, 61958146: 61958146
5 BEST1 NM_004183.3(BEST1): c.707A> G (p.Tyr236Cys) single nucleotide variant Pathogenic rs121918291 GRCh37 Chromosome 11, 61724929: 61724929
6 BEST1 NM_004183.3(BEST1): c.707A> G (p.Tyr236Cys) single nucleotide variant Pathogenic rs121918291 GRCh38 Chromosome 11, 61957457: 61957457
7 BEST1 NM_004183.3(BEST1): c.704T> C (p.Val235Ala) single nucleotide variant Pathogenic rs267606679 GRCh37 Chromosome 11, 61724926: 61724926
8 BEST1 NM_004183.3(BEST1): c.704T> C (p.Val235Ala) single nucleotide variant Pathogenic rs267606679 GRCh38 Chromosome 11, 61957454: 61957454
9 BEST1 NM_004183.3(BEST1): c.618G> A (p.Leu206=) single nucleotide variant Benign/Likely benign rs62641693 GRCh37 Chromosome 11, 61724452: 61724452
10 BEST1 NM_004183.3(BEST1): c.618G> A (p.Leu206=) single nucleotide variant Benign/Likely benign rs62641693 GRCh38 Chromosome 11, 61956980: 61956980
11 BEST1; FTH1 NM_004183.3(BEST1): c.1410G> A (p.Thr470=) single nucleotide variant Benign rs149698 GRCh37 Chromosome 11, 61730036: 61730036
12 BEST1; FTH1 NM_004183.3(BEST1): c.1410G> A (p.Thr470=) single nucleotide variant Benign rs149698 GRCh38 Chromosome 11, 61962564: 61962564
13 BEST1; FTH1 NM_004183.3(BEST1): c.1474G> A (p.Val492Ile) single nucleotide variant Benign/Likely benign rs111326315 GRCh37 Chromosome 11, 61730100: 61730100
14 BEST1; FTH1 NM_004183.3(BEST1): c.1474G> A (p.Val492Ile) single nucleotide variant Benign/Likely benign rs111326315 GRCh38 Chromosome 11, 61962628: 61962628
15 BEST1 NM_004183.3(BEST1): c.495G> A (p.Pro165=) single nucleotide variant Benign/Likely benign rs182941675 GRCh37 Chromosome 11, 61724329: 61724329
16 BEST1 NM_004183.3(BEST1): c.495G> A (p.Pro165=) single nucleotide variant Benign/Likely benign rs182941675 GRCh38 Chromosome 11, 61956857: 61956857
17 BEST1; FTH1 NM_004183.3(BEST1): c.1064G> A (p.Arg355His) single nucleotide variant Likely benign rs368356148 GRCh37 Chromosome 11, 61727479: 61727479
18 BEST1 NM_004183.3(BEST1): c.-329C> T single nucleotide variant Benign rs972354 GRCh37 Chromosome 11, 61717607: 61717607
19 BEST1 NM_004183.3(BEST1): c.-329C> T single nucleotide variant Benign rs972354 GRCh38 Chromosome 11, 61950135: 61950135
20 BEST1 NM_004183.3(BEST1): c.-66G> T single nucleotide variant Uncertain significance rs886048425 GRCh37 Chromosome 11, 61717870: 61717870
21 BEST1 NM_004183.3(BEST1): c.-66G> T single nucleotide variant Uncertain significance rs886048425 GRCh38 Chromosome 11, 61950398: 61950398
22 BEST1; FTH1 NM_004183.3(BEST1): c.1064G> A (p.Arg355His) single nucleotide variant Likely benign rs368356148 GRCh38 Chromosome 11, 61960007: 61960007
23 BEST1; FTH1 NM_004183.3(BEST1): c.1070C> T (p.Ala357Val) single nucleotide variant Likely benign rs17854138 GRCh37 Chromosome 11, 61727485: 61727485
24 BEST1; FTH1 NM_004183.3(BEST1): c.1070C> T (p.Ala357Val) single nucleotide variant Likely benign rs17854138 GRCh38 Chromosome 11, 61960013: 61960013
25 BEST1; FTH1 NM_004183.3(BEST1): c.1143C> T (p.Asp381=) single nucleotide variant Likely benign rs112199774 GRCh37 Chromosome 11, 61729769: 61729769
26 BEST1; FTH1 NM_004183.3(BEST1): c.1143C> T (p.Asp381=) single nucleotide variant Likely benign rs112199774 GRCh38 Chromosome 11, 61962297: 61962297
27 BEST1; FTH1 NM_004183.3(BEST1): c.*133T> C single nucleotide variant Likely benign rs1801621 GRCh37 Chromosome 11, 61731727: 61731727
28 BEST1; FTH1 NM_004183.3(BEST1): c.*133T> C single nucleotide variant Likely benign rs1801621 GRCh38 Chromosome 11, 61964255: 61964255
29 BEST1 NM_004183.3(BEST1): c.-221T> C single nucleotide variant Benign rs972353 GRCh37 Chromosome 11, 61717715: 61717715
30 BEST1 NM_004183.3(BEST1): c.-221T> C single nucleotide variant Benign rs972353 GRCh38 Chromosome 11, 61950243: 61950243
31 BEST1 NM_004183.3(BEST1): c.-121C> T single nucleotide variant Uncertain significance rs562849665 GRCh37 Chromosome 11, 61717815: 61717815
32 BEST1 NM_004183.3(BEST1): c.-121C> T single nucleotide variant Uncertain significance rs562849665 GRCh38 Chromosome 11, 61950343: 61950343
33 BEST1 NM_004183.3(BEST1): c.213C> T (p.Ser71=) single nucleotide variant Likely benign rs57132800 GRCh38 Chromosome 11, 61955167: 61955167
34 BEST1 NM_004183.3(BEST1): c.213C> T (p.Ser71=) single nucleotide variant Likely benign rs57132800 GRCh37 Chromosome 11, 61722639: 61722639
35 BEST1 NM_004183.3(BEST1): c.813C> T (p.Leu271=) single nucleotide variant Uncertain significance rs370397270 GRCh37 Chromosome 11, 61725716: 61725716
36 BEST1 NM_004183.3(BEST1): c.813C> T (p.Leu271=) single nucleotide variant Uncertain significance rs370397270 GRCh38 Chromosome 11, 61958244: 61958244
37 BEST1 NM_004183.3(BEST1): c.954C> G (p.Ser318=) single nucleotide variant Uncertain significance rs144231113 GRCh37 Chromosome 11, 61727369: 61727369
38 BEST1 NM_004183.3(BEST1): c.954C> G (p.Ser318=) single nucleotide variant Uncertain significance rs144231113 GRCh38 Chromosome 11, 61959897: 61959897
39 BEST1; FTH1 NM_002032.2(FTH1): c.*222C> T single nucleotide variant Benign rs17156609 GRCh37 Chromosome 11, 61731977: 61731977
40 BEST1; FTH1 NM_002032.2(FTH1): c.*222C> T single nucleotide variant Benign rs17156609 GRCh38 Chromosome 11, 61964505: 61964505
41 BEST1; FTH1 NM_002032.2(FTH1): c.387+12A> G single nucleotide variant Likely benign rs201120647 GRCh37 Chromosome 11, 61732447: 61732447
42 BEST1; FTH1 NM_002032.2(FTH1): c.387+12A> G single nucleotide variant Likely benign rs201120647 GRCh38 Chromosome 11, 61964975: 61964975
43 BEST1; FTH1 NM_002032.2(FTH1): c.161A> G (p.Lys54Arg) single nucleotide variant Likely benign rs186448909 GRCh37 Chromosome 11, 61732941: 61732941
44 BEST1; FTH1 NM_002032.2(FTH1): c.161A> G (p.Lys54Arg) single nucleotide variant Likely benign rs186448909 GRCh38 Chromosome 11, 61965469: 61965469
45 BEST1 NM_004183.3(BEST1): c.-536T> C single nucleotide variant Likely benign rs137965157 GRCh37 Chromosome 11, 61717400: 61717400
46 BEST1 NM_004183.3(BEST1): c.-536T> C single nucleotide variant Likely benign rs137965157 GRCh38 Chromosome 11, 61949928: 61949928
47 BEST1 NM_004183.3(BEST1): c.-428C> T single nucleotide variant Likely benign rs77151527 GRCh38 Chromosome 11, 61950036: 61950036
48 BEST1 NM_004183.3(BEST1): c.-428C> T single nucleotide variant Likely benign rs77151527 GRCh37 Chromosome 11, 61717508: 61717508
49 BEST1 NM_004183.3(BEST1): c.-373T> A single nucleotide variant Likely benign rs117165769 GRCh38 Chromosome 11, 61950091: 61950091
50 BEST1 NM_004183.3(BEST1): c.-373T> A single nucleotide variant Likely benign rs117165769 GRCh37 Chromosome 11, 61717563: 61717563

Expression for Vitreoretinochoroidopathy

Search GEO for disease gene expression data for Vitreoretinochoroidopathy.

Pathways for Vitreoretinochoroidopathy

GO Terms for Vitreoretinochoroidopathy

Sources for Vitreoretinochoroidopathy

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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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45 MESH via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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