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ARB
MCID: BST008
MIFTS: 30

Bestrophinopathy, Autosomal Recessive (ARB)

Categories: Eye diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Bestrophinopathy, Autosomal Recessive

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MalaCards integrated aliases for Bestrophinopathy, Autosomal Recessive:

Name: Bestrophinopathy, Autosomal Recessive 58 76 30 6 74
Bestrophinopathy 76 74
Arb 58 76
Autosomal Recessive Bestrophinopathy 60
Retinopathy, Burgess-Black Type 60
Retinopathy Burgess-Black Type 76

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive bestrophinopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age;

HPO:

33
bestrophinopathy, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare eye diseases


External Ids:

OMIM 58 611809
MeSH 45 D012164
ICD10 via Orphanet 35 H35.5
Orphanet 60 ORPHA139455
Sources

Summaries for Bestrophinopathy, Autosomal Recessive

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UniProtKB/Swiss-Prot : 76 Bestrophinopathy, autosomal recessive: A retinopathy characterized by loss of central vision, an absent electro-oculogram light rise, and electroretinogram anomalies.

MalaCards based summary : Bestrophinopathy, Autosomal Recessive, also known as bestrophinopathy, is related to bestrophinopathy and vitreoretinochoroidopathy. An important gene associated with Bestrophinopathy, Autosomal Recessive is BEST1 (Bestrophin 1). Affiliated tissues include eye, and related phenotypes are reduced visual acuity and hypermetropia

Description from OMIM: 611809
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Related Diseases for Bestrophinopathy, Autosomal Recessive

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Diseases in the Bestrophinopathy family:

Bestrophinopathy, Autosomal Recessive

Diseases related to Bestrophinopathy, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 bestrophinopathy 32.3 BEST1 LOC107984334
2 vitreoretinochoroidopathy 31.2 BEST1 LOC107984334
3 microvascular complications of diabetes 3 10.3
4 microvascular complications of diabetes 4 10.3
5 microvascular complications of diabetes 6 10.3
6 microvascular complications of diabetes 7 10.3
7 rere-related disorders 10.3
8 vitelliform macular dystrophy 10.2
9 best vitelliform macular dystrophy 10.2
10 heart disease 10.2
11 iga glomerulonephritis 10.2
12 kidney disease 10.2
13 bowenoid papulosis 10.2
14 ischemic heart disease 10.1
15 atrial fibrillation 10.1
16 migraine with or without aura 1 10.0
17 congestive heart failure 10.0
18 angioedema 10.0
19 apnea, obstructive sleep 9.9
20 diabetes mellitus, noninsulin-dependent 9.9
21 hypertension, essential 9.9
22 systemic lupus erythematosus 9.9
23 coronary heart disease 1 9.9
24 myocardial infarction 9.9
25 chronic kidney failure 9.9
26 hepatitis 9.9
27 sleep apnea 9.9
28 dementia 9.9
29 hepatitis c 9.9
30 hyperinsulinism 9.9
31 lipid metabolism disorder 9.9
32 skin carcinoma 9.9
33 pneumonia 9.9
34 vascular dementia 9.9
35 systolic heart failure 9.9
36 heparin-induced thrombocytopenia 9.9
37 retinitis pigmentosa 9.6 BEST1 LOC107984334
38 retinitis pigmentosa 50 9.5 BEST1 LOC107984334

Graphical network of the top 20 diseases related to Bestrophinopathy, Autosomal Recessive:



Diseases related to Bestrophinopathy, Autosomal Recessive
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Symptoms & Phenotypes for Bestrophinopathy, Autosomal Recessive

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Human phenotypes related to Bestrophinopathy, Autosomal Recessive:

33
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 33 HP:0007663
2 hypermetropia 33 HP:0000540
3 retinal flecks 33 HP:0012045
4 retinal pigment epithelial atrophy 33 HP:0007722
5 decreased light- and dark-adapted electroretinogram amplitude 33 HP:0000654

Clinical features from OMIM:

611809
Sources

Drugs & Therapeutics for Bestrophinopathy, Autosomal Recessive

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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 Bestrophinopathy, Autosomal Recessive

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Genetic Tests for Bestrophinopathy, Autosomal Recessive

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Genetic tests related to Bestrophinopathy, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Bestrophinopathy, Autosomal Recessive 30 BEST1
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Anatomical Context for Bestrophinopathy, Autosomal Recessive

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MalaCards organs/tissues related to Bestrophinopathy, Autosomal Recessive:

42
Eye
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Publications for Bestrophinopathy, Autosomal Recessive

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Articles related to Bestrophinopathy, Autosomal Recessive:

(show all 30)
# Title Authors Year
1
Mutant Best1 Expression and Impaired Phagocytosis in an iPSC Model of Autosomal Recessive Bestrophinopathy. ( 29540715 )
2018
2
BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes. ( 29668979 )
2018
3
AUTOSOMAL RECESSIVE BESTROPHINOPATHY: MULTIMODAL IMAGING UPDATE. ( 29384981 )
2018
4
CHANGES OF CONE PHOTORECEPTOR MOSAIC IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY. ( 30308565 )
2018
5
Clinical Course of Autosomal Recessive Bestrophinopathy Complicated by Choroidal Neovascularization. ( 30457648 )
2018
6
Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population. ( 30498755 )
2018
7
Novel BEST1 mutations and special clinical characteristics of autosomal recessive bestrophinopathy in Chinese patients. ( 30593719 )
2018
8
NORMAL ELECTROOCULOGRAPHY IN BEST DISEASE AND AUTOSOMAL RECESSIVE BESTROPHINOPATHY. ( 28590961 )
2017
9
Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy. ( 28687848 )
2017
10
Ten-Year Follow-Up after Bilateral Submacular Neovascular Membrane Removal in a Case of Autosomal Recessive Bestrophinopathy. ( 28559838 )
2017
11
A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance. ( 28481155 )
2017
12
Clinical and genetic findings of autosomal recessive bestrophinopathy in Japanese cohort. ( 27163236 )
2016
13
Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation. ( 27071392 )
2016
14
Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation. ( 26200502 )
2015
15
A novel BEST1 mutation in autosomal recessive bestrophinopathy. ( 26720466 )
2015
16
Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy. ( 26333019 )
2015
17
New best1 mutations in autosomal recessive bestrophinopathy. ( 25545482 )
2015
18
Use of Intravitreal Bevacizumab in a 9-year-old Child with Choroidal Neovascularization Associated with Autosomal Recessive Bestrophinopathy. ( 25265375 )
2014
19
Autosomal recessive bestrophinopathy associated with angle-closure glaucoma. ( 24859690 )
2014
20
Value of anti-VEGF treatment in choroidal neovascularization associated with autosomal recessive bestrophinopathy. ( 24459458 )
2013
21
Autosomal recessive bestrophinopathy: differential diagnosis and treatment options. ( 23290749 )
2013
22
Clinical and genetic misdiagnosis of autosomal recessive bestrophinopathy. ( 24337562 )
2013
23
Phenotype and genotype of patients with autosomal recessive bestrophinopathy. ( 21809908 )
2012
24
Unilateral vitelliform phenotype in autosomal recessive bestrophinopathy. ( 22584882 )
2012
25
Nonsense-mediated decay as the molecular cause for autosomal recessive bestrophinopathy in two unrelated families. ( 22199244 )
2012
26
Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. ( 21330666 )
2011
27
Childhood-onset autosomal recessive bestrophinopathy. ( 21825197 )
2011
28
Autosomal recessive bestrophinopathy: new observations on the retinal phenotype - clinical and molecular report of an Italian family. ( 21412020 )
2011
29
A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1. ( 21203346 )
2010
30
Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB). ( 18985398 )
2009
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Variations for Bestrophinopathy, Autosomal Recessive

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UniProtKB/Swiss-Prot genetic disease variations for Bestrophinopathy, Autosomal Recessive:

76
# Symbol AA change Variation ID SNP ID
1 BEST1 p.Arg141His VAR_000847 rs121918284
2 BEST1 p.Asp312Asn VAR_000868 rs281865277
3 BEST1 p.Leu41Pro VAR_017371 rs121918288
4 BEST1 p.Ala195Val VAR_017381 rs200277476
5 BEST1 p.Pro152Ala VAR_043493 rs141747887
6 BEST1 p.Val317Met VAR_043494 rs121918287
7 BEST1 p.Met325Thr VAR_043495 rs368387447
8 BEST1 p.Leu140Val VAR_063169 rs267606678
9 BEST1 p.Arg202Trp VAR_075347 rs765998048

ClinVar genetic disease variations for Bestrophinopathy, Autosomal Recessive:

6 (show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 BEST1 NM_004183.3(BEST1): c.422G> A (p.Arg141His) single nucleotide variant Conflicting interpretations of pathogenicity rs121918284 GRCh37 Chromosome 11, 61723364: 61723364
2 BEST1 NM_004183.3(BEST1): c.422G> A (p.Arg141His) single nucleotide variant Conflicting interpretations of pathogenicity rs121918284 GRCh38 Chromosome 11, 61955892: 61955892
3 BEST1 NM_004183.3(BEST1): c.598C> T (p.Arg200Ter) single nucleotide variant Pathogenic rs121918286 GRCh37 Chromosome 11, 61724432: 61724432
4 BEST1 NM_004183.3(BEST1): c.598C> T (p.Arg200Ter) single nucleotide variant Pathogenic rs121918286 GRCh38 Chromosome 11, 61956960: 61956960
5 BEST1 NM_004183.3(BEST1): c.949G> A (p.Val317Met) single nucleotide variant Pathogenic rs121918287 GRCh37 Chromosome 11, 61727364: 61727364
6 BEST1 NM_004183.3(BEST1): c.949G> A (p.Val317Met) single nucleotide variant Pathogenic rs121918287 GRCh38 Chromosome 11, 61959892: 61959892
7 BEST1 NM_004183.3(BEST1): c.122T> C (p.Leu41Pro) single nucleotide variant Pathogenic rs121918288 GRCh37 Chromosome 11, 61719400: 61719400
8 BEST1 NM_004183.3(BEST1): c.122T> C (p.Leu41Pro) single nucleotide variant Pathogenic rs121918288 GRCh38 Chromosome 11, 61951928: 61951928
9 BEST1 NM_004183.3(BEST1): c.418C> G (p.Leu140Val) single nucleotide variant Uncertain significance rs267606678 GRCh37 Chromosome 11, 61723360: 61723360
10 BEST1 NM_004183.3(BEST1): c.418C> G (p.Leu140Val) single nucleotide variant Uncertain significance rs267606678 GRCh38 Chromosome 11, 61955888: 61955888
11 BEST1 NM_004183.3(BEST1): c.584C> T (p.Ala195Val) single nucleotide variant Likely pathogenic rs200277476 GRCh37 Chromosome 11, 61724418: 61724418
12 BEST1 NM_004183.3(BEST1): c.584C> T (p.Ala195Val) single nucleotide variant Likely pathogenic rs200277476 GRCh38 Chromosome 11, 61956946: 61956946
13 BEST1 NM_004183.3(BEST1): c.602T> C (p.Ile201Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199529046 GRCh37 Chromosome 11, 61724436: 61724436
14 BEST1 NM_004183.3(BEST1): c.602T> C (p.Ile201Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199529046 GRCh38 Chromosome 11, 61956964: 61956964
15 BEST1 NM_004183.3(BEST1): c.658C> T (p.Gln220Ter) single nucleotide variant Likely pathogenic rs775283269 GRCh37 Chromosome 11, 61724880: 61724880
16 BEST1 NM_004183.3(BEST1): c.658C> T (p.Gln220Ter) single nucleotide variant Likely pathogenic rs775283269 GRCh38 Chromosome 11, 61957408: 61957408
17 BEST1 NM_004183.3(BEST1): c.400C> G (p.Leu134Val) single nucleotide variant Pathogenic rs753614067 GRCh38 Chromosome 11, 61955870: 61955870
18 BEST1 NM_004183.3(BEST1): c.400C> G (p.Leu134Val) single nucleotide variant Pathogenic rs753614067 GRCh37 Chromosome 11, 61723342: 61723342
19 BEST1 NM_004183.3(BEST1): c.1514_1515delTG (p.Val505Glufs) deletion Likely pathogenic rs752521456 GRCh37 Chromosome 11, 61730140: 61730141
20 BEST1 NM_004183.3(BEST1): c.1514_1515delTG (p.Val505Glufs) deletion Likely pathogenic rs752521456 GRCh38 Chromosome 11, 61962668: 61962669
21 BEST1 NM_004183.3(BEST1): c.275G> T (p.Arg92Leu) single nucleotide variant Likely pathogenic rs281865225 GRCh38 Chromosome 11, 61955745: 61955745
22 BEST1 NM_004183.3(BEST1): c.275G> T (p.Arg92Leu) single nucleotide variant Likely pathogenic rs281865225 GRCh37 Chromosome 11, 61723217: 61723217
23 BEST1 NM_004183.3(BEST1): c.684C> G (p.Asp228Glu) single nucleotide variant Likely pathogenic rs1431752515 GRCh37 Chromosome 11, 61724906: 61724906
24 BEST1 NM_004183.3(BEST1): c.684C> G (p.Asp228Glu) single nucleotide variant Likely pathogenic rs1431752515 GRCh38 Chromosome 11, 61957434: 61957434
25 BEST1 NM_004183.3(BEST1): c.956T> C (p.Leu319Pro) single nucleotide variant Pathogenic rs1554963305 GRCh38 Chromosome 11, 61959899: 61959899
26 BEST1 NM_004183.3(BEST1): c.956T> C (p.Leu319Pro) single nucleotide variant Pathogenic rs1554963305 GRCh37 Chromosome 11, 61727371: 61727371
27 BEST1 NM_004183.3(BEST1): c.1370C> G (p.Pro457Arg) single nucleotide variant Pathogenic rs1554964287 GRCh38 Chromosome 11, 61962524: 61962524
28 BEST1 NM_004183.3(BEST1): c.1370C> G (p.Pro457Arg) single nucleotide variant Pathogenic rs1554964287 GRCh37 Chromosome 11, 61729996: 61729996
29 BEST1 NM_004183.4(BEST1): c.695T> G (p.Ile232Ser) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 61957445: 61957445
30 BEST1 NM_004183.4(BEST1): c.695T> G (p.Ile232Ser) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 61724917: 61724917
Sources

Expression for Bestrophinopathy, Autosomal Recessive

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Search GEO for disease gene expression data for Bestrophinopathy, Autosomal Recessive.
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Pathways for Bestrophinopathy, Autosomal Recessive

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GO Terms for Bestrophinopathy, Autosomal Recessive

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Sources for Bestrophinopathy, Autosomal Recessive

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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