ARB
MCID: BST008
MIFTS: 31

Bestrophinopathy, Autosomal Recessive (ARB)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Bestrophinopathy, Autosomal Recessive

MalaCards integrated aliases for Bestrophinopathy, Autosomal Recessive:

Name: Bestrophinopathy, Autosomal Recessive 57 75 29 6 73
Bestrophinopathy 75 73
Arb 57 75
Autosomal Recessive Bestrophinopathy 59
Retinopathy, Burgess-Black Type 59
Retinopathy Burgess-Black Type 75

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive bestrophinopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age;

HPO:

32
bestrophinopathy, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 611809
Orphanet 59 ORPHA139455
ICD10 via Orphanet 34 H35.5
MeSH 44 D012164

Summaries for Bestrophinopathy, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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, kidney and heart, and related phenotypes are reduced visual acuity and hypermetropia

Description from OMIM: 611809

Related Diseases for Bestrophinopathy, Autosomal Recessive

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 28)
# Related Disease Score Top Affiliating Genes
1 bestrophinopathy 32.3 BEST1 LOC107984334
2 vitreoretinochoroidopathy 31.4 BEST1 LOC107984334
3 vitelliform macular dystrophy 10.2
4 best vitelliform macular dystrophy 10.2
5 ischemic heart disease 10.1
6 atrial fibrillation 10.1
7 heart disease 10.1
8 kidney disease 10.1
9 bowenoid papulosis 10.1
10 microvascular complications of diabetes 3 10.0
11 microvascular complications of diabetes 4 10.0
12 microvascular complications of diabetes 6 10.0
13 microvascular complications of diabetes 7 10.0
14 apnea, obstructive sleep 9.9
15 hypertension, essential 9.9
16 myocardial infarction 9.9
17 chronic kidney failure 9.9
18 hepatitis 9.9
19 sleep apnea 9.9
20 dementia 9.9
21 angioedema 9.9
22 hepatitis c 9.9
23 hyperinsulinism 9.9
24 pneumonia 9.9
25 vascular dementia 9.9
26 systolic heart failure 9.9
27 retinitis pigmentosa 9.8 BEST1 LOC107984334
28 retinitis pigmentosa 50 9.7 BEST1 LOC107984334

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



Diseases related to Bestrophinopathy, Autosomal Recessive

Symptoms & Phenotypes for Bestrophinopathy, Autosomal Recessive

Clinical features from OMIM:

611809

Human phenotypes related to Bestrophinopathy, Autosomal Recessive:

32
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 32 HP:0007663
2 hypermetropia 32 HP:0000540
3 retinal flecks 32 HP:0012045
4 retinal pigment epithelial atrophy 32 HP:0007722
5 decreased light- and dark-adapted electroretinogram amplitude 32 HP:0000654

Drugs & Therapeutics for Bestrophinopathy, Autosomal Recessive

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

Genetic Tests for Bestrophinopathy, Autosomal Recessive

Genetic tests related to Bestrophinopathy, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Bestrophinopathy, Autosomal Recessive 29 BEST1

Anatomical Context for Bestrophinopathy, Autosomal Recessive

MalaCards organs/tissues related to Bestrophinopathy, Autosomal Recessive:

41
Eye, Kidney, Heart

Publications for Bestrophinopathy, Autosomal Recessive

Articles related to Bestrophinopathy, Autosomal Recessive:

(show all 29)
# 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
NORMAL ELECTROOCULOGRAPHY IN BEST DISEASE AND AUTOSOMAL RECESSIVE BESTROPHINOPATHY. ( 28590961 )
2017
8
Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy. ( 28687848 )
2017
9
Ten-Year Follow-Up after Bilateral Submacular Neovascular Membrane Removal in a Case of Autosomal Recessive Bestrophinopathy. ( 28559838 )
2017
10
A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance. ( 28481155 )
2017
11
Clinical and genetic findings of autosomal recessive bestrophinopathy in Japanese cohort. ( 27163236 )
2016
12
Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation. ( 27071392 )
2016
13
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
14
A novel BEST1 mutation in autosomal recessive bestrophinopathy. ( 26720466 )
2015
15
Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy. ( 26333019 )
2015
16
New best1 mutations in autosomal recessive bestrophinopathy. ( 25545482 )
2015
17
Use of Intravitreal Bevacizumab in a 9-year-old Child with Choroidal Neovascularization Associated with Autosomal Recessive Bestrophinopathy. ( 25265375 )
2014
18
Autosomal recessive bestrophinopathy associated with angle-closure glaucoma. ( 24859690 )
2014
19
Value of anti-VEGF treatment in choroidal neovascularization associated with autosomal recessive bestrophinopathy. ( 24459458 )
2013
20
Autosomal recessive bestrophinopathy: differential diagnosis and treatment options. ( 23290749 )
2013
21
Clinical and genetic misdiagnosis of autosomal recessive bestrophinopathy. ( 24337562 )
2013
22
Phenotype and genotype of patients with autosomal recessive bestrophinopathy. ( 21809908 )
2012
23
Unilateral vitelliform phenotype in autosomal recessive bestrophinopathy. ( 22584882 )
2012
24
Nonsense-mediated decay as the molecular cause for autosomal recessive bestrophinopathy in two unrelated families. ( 22199244 )
2012
25
Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. ( 21330666 )
2011
26
Childhood-onset autosomal recessive bestrophinopathy. ( 21825197 )
2011
27
Autosomal recessive bestrophinopathy: new observations on the retinal phenotype - clinical and molecular report of an Italian family. ( 21412020 )
2011
28
A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1. ( 21203346 )
2010
29
Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB). ( 18985398 )
2009

Variations for Bestrophinopathy, Autosomal Recessive

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

75
# 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
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 28)
# 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 GRCh37 Chromosome 11, 61730140: 61730141
20 BEST1 NM_004183.3(BEST1): c.1514_1515delTG (p.Val505Glufs) deletion Likely pathogenic 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 GRCh37 Chromosome 11, 61724906: 61724906
24 BEST1 NM_004183.3(BEST1): c.684C> G (p.Asp228Glu) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 61957434: 61957434
25 BEST1 NM_004183.3(BEST1): c.956T> C (p.Leu319Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 61959899: 61959899
26 BEST1 NM_004183.3(BEST1): c.956T> C (p.Leu319Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 61727371: 61727371
27 BEST1 NM_004183.3(BEST1): c.1370C> G (p.Pro457Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 61962524: 61962524
28 BEST1 NM_004183.3(BEST1): c.1370C> G (p.Pro457Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 61729996: 61729996

Expression for Bestrophinopathy, Autosomal Recessive

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

Pathways for Bestrophinopathy, Autosomal Recessive

GO Terms for Bestrophinopathy, Autosomal Recessive

Sources for Bestrophinopathy, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....