ARB
MCID: BST008
MIFTS: 33

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 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:

Orphanet: 60  
Rare eye diseases


External Ids:

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

Summaries for Bestrophinopathy, Autosomal Recessive

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 heart, kidney and eye, 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 46)
# Related Disease Score Top Affiliating Genes
1 bestrophinopathy 32.4 BEST1 LOC107984334
2 vitreoretinochoroidopathy 31.7 BEST1 LOC107984334
3 retinitis pigmentosa 29.5 BEST1 LOC107984334
4 retinitis pigmentosa 50 29.3 BEST1 LOC107984334
5 rere-related disorders 10.4
6 microvascular complications of diabetes 3 10.4
7 microvascular complications of diabetes 4 10.4
8 microvascular complications of diabetes 6 10.4
9 microvascular complications of diabetes 7 10.4
10 kidney disease 10.4
11 vitelliform macular dystrophy 10.2
12 best vitelliform macular dystrophy 10.2
13 myocardial infarction 10.2
14 atrial fibrillation 10.2
15 iga glomerulonephritis 10.2
16 bowenoid papulosis 10.2
17 heart disease 10.1
18 macular dystrophy, vitelliform, 2 10.0
19 leber congenital amaurosis 4 10.0
20 macular dystrophy, vitelliform, 3 10.0
21 central serous chorioretinopathy 10.0
22 hypertension, essential 10.0
23 migraine with or without aura 1 10.0
24 osteoporosis 10.0
25 chronic kidney failure 10.0
26 congestive heart failure 10.0
27 diabetes mellitus 10.0
28 ischemic heart disease 10.0
29 dementia 10.0
30 angioedema 10.0
31 apnea, obstructive sleep 9.9
32 diabetes mellitus, noninsulin-dependent 9.9
33 femoral-facial syndrome 9.9
34 systemic lupus erythematosus 9.9
35 coronary heart disease 1 9.9
36 acute myocardial infarction 9.9
37 hepatitis 9.9
38 sleep apnea 9.9
39 hepatitis c 9.9
40 hyperinsulinism 9.9
41 lipid metabolism disorder 9.9
42 skin carcinoma 9.9
43 pneumonia 9.9
44 vascular dementia 9.9
45 systolic heart failure 9.9
46 heparin-induced thrombocytopenia 9.9

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



Diseases related to Bestrophinopathy, Autosomal Recessive

Symptoms & Phenotypes for Bestrophinopathy, Autosomal Recessive

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

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 30 BEST1

Anatomical Context for Bestrophinopathy, Autosomal Recessive

MalaCards organs/tissues related to Bestrophinopathy, Autosomal Recessive:

42
Heart, Kidney, Eye, Testes, Endothelial, Colon, Skin

Publications for Bestrophinopathy, Autosomal Recessive

Articles related to Bestrophinopathy, Autosomal Recessive:

(show top 50) (show all 223)
# Title Authors Year
1
Novel BEST1 mutations and special clinical characteristics of autosomal recessive bestrophinopathy in Chinese patients. ( 30593719 )
2019
2
ARB Superiority Over ACE Inhibitors in Coronary Heart Disease: An Alternative Viewpoint. ( 30633371 )
2019
3
ARB-1740, a RNA Interference Therapeutic for Chronic Hepatitis B Infection. ( 30403127 )
2019
4
Hepatitis B Virus Therapeutic Agent ARB-1740 Has Inhibitory Effect on Hepatitis Delta Virus in a New Dually-Infected Humanized Mouse Model. ( 30408957 )
2019
5
Mineralocorticoid receptor blockade suppresses dietary salt-induced ACEI/ARB-resistant albuminuria in non-diabetic hypertension: a sub-analysis of evaluate study. ( 30631161 )
2019
6
Genome-wide meta-analysis of SNP-by9-ACEI/ARB and SNP-by-thiazide diuretic and effect on serum potassium in cohorts of European and African ancestry. ( 29855607 )
2019
7
Anthropogenic influence shapes the distribution of antibiotic resistant bacteria (ARB) in the sediment of Sundarban estuary in India. ( 30180366 )
2019
8
Effectiveness of zinc oxide-assisted photocatalysis for concerned constituents in reclaimed wastewater: 1,4-Dioxane, trihalomethanes, antibiotics, antibiotic resistant bacteria (ARB), and antibiotic resistance genes (ARGs). ( 30308890 )
2019
9
Discharge treatment with ACE inhibitor/ARB after a heart failure hospitalization is associated with a better prognosis irrespectively of left ventricular ejection fraction. ( 30887642 )
2019
10
Long-term clinical outcome between beta-blocker with ACEI or ARB in patients with NSTEMI who underwent PCI with drug-eluting stents. ( 31080471 )
2019
11
Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population. ( 30498755 )
2018
12
NORMAL ELECTROOCULOGRAPHY IN BEST DISEASE AND AUTOSOMAL RECESSIVE BESTROPHINOPATHY. ( 28590961 )
2018
13
AUTOSOMAL RECESSIVE BESTROPHINOPATHY: MULTIMODAL IMAGING UPDATE. ( 29384981 )
2018
14
Mutant Best1 Expression and Impaired Phagocytosis in an iPSC Model of Autosomal Recessive Bestrophinopathy. ( 29540715 )
2018
15
BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes. ( 29668979 )
2018
16
CHANGES OF CONE PHOTORECEPTOR MOSAIC IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY. ( 30308565 )
2018
17
Clinical Course of Autosomal Recessive Bestrophinopathy Complicated by Choroidal Neovascularization. ( 30457648 )
2018
18
Different CKD aetiologies and duration of ACE inhibitor/ARB use can also affect left ventricular functions. ( 28745136 )
2018
19
Study of Acute Kidney Injury on 309 Hypertensive Inpatients with ACEI/ARB - Diuretic Treatment. ( 29778133 )
2018
20
Solar photo-Fenton disinfection of 11 antibiotic-resistant bacteria (ARB) and elimination of representative AR genes. Evidence that antibiotic resistance does not imply resistance to oxidative treatment. ( 29986243 )
2018
21
Corrigendum to "Effectiveness of zinc oxide-assisted photocatalysis for concerned constituents in reclaimed wastewater: 1,4-Dioxane, trihalomethanes, antibiotics, antibiotic resistant bacteria (ARB), and antibiotic resistance genes (ARGs)" [Sci. Total Environ. 649 (2019) 1189-1197]. ( 30554651 )
2018
22
Developing a multi-center clinical data mart of ACEI and ARB for real-world evidence (RWE). ( 30564448 )
2018
23
Comparison of the Effects of Standard Versus Low-dose Prolonged-release Tacrolimus with or without ACEi/ARB on the Histology and Function of Renal Allografts. ( 30582281 )
2018
24
Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy. ( 28687848 )
2017
25
A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance. ( 28481155 )
2017
26
Ten-Year Follow-Up after Bilateral Submacular Neovascular Membrane Removal in a Case of Autosomal Recessive Bestrophinopathy. ( 28559838 )
2017
27
Coupling ARB-based biological and photochemical (UV/TiO2 and UV/S2O82-) techniques to deal with sanitary landfill leachate. ( 27633719 )
2017
28
ARB users exhibit a lower fracture incidence than ACE inhibitor users among older hypertensive men. ( 28181652 )
2017
29
Comparative Effects of an Angiotensin II Receptor Blocker (ARB)/Diuretic vs. ARB/Calcium-Channel Blocker Combination on Uncontrolled Nocturnal Hypertension Evaluated by Information and Communication Technology-Based Nocturnal Home Blood Pressure Monitoring - The NOCTURNE Study. ( 28321001 )
2017
30
The prevalence of antibiotic-resistant bacteria (ARB) in waters of the Lower Ballona Creek Watershed, Los Angeles County, California. ( 28488226 )
2017
31
Angiotensin Receptor Blockers Do Not Reduce Risk of Myocardial Infarction, Cardiovascular Death, or Total Mortality: Further Evidence for the ARB-MI Paradox. ( 28559493 )
2017
32
Sodium balance, circadian BP rhythm, heart rate variability, and intrarenal renin-angiotensin-aldosterone and dopaminergic systems in acute phase of ARB therapy. ( 28576855 )
2017
33
Microstructure Evolution and Mechanical Properties of Al-TiBâ‚‚/TiC In Situ Aluminum-Based Composites during Accumulative Roll Bonding (ARB) Process. ( 28772467 )
2017
34
Domain swelling in ARB-type triblock copolymers via self-adjusting effective dispersity. ( 28795184 )
2017
35
Diuretic or Beta-Blocker for Hypertensive Patients Already Receiving ACEI/ARB and Calcium Channel Blocker. ( 29218625 )
2017
36
Complete genome sequence of lytic bacteriophage RG-2014 that infects the multidrug resistant bacterium Delftia tsuruhatensis ARB-1. ( 29270250 )
2017
37
Renal Protective Effects of Combination of Diltiazem and ACEI/ARB on the Progression of Diabetic Nephropathy: Randomized Controlled Trial. ( 29927180 )
2017
38
Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy. ( 26333019 )
2016
39
Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation. ( 27071392 )
2016
40
Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort. ( 27163236 )
2016
41
Appropriate baseline laboratory testing following ACEI or ARB initiation by Medicare FFS beneficiaries. ( 26991354 )
2016
42
ACE and ARB Agents in the Prophylactic Therapy of Migraine-How Effective Are They? ( 26923605 )
2016
43
PAI-1 in Myocardial Remodeling: Is Pharmacological Suppression by ARB Beneficial? ( 26686568 )
2016
44
Plasma Biomarkers Reflecting Profibrotic Processes in Heart Failure With a Preserved Ejection Fraction: Data From the Prospective Comparison of ARNI With ARB on Management of Heart Failure With Preserved Ejection Fraction Study. ( 26754625 )
2016
45
L/T-type calcium channel blocker reduces non-Gaussianity of heart rate variability in chronic kidney disease patients under preceding treatment with ARB. ( 27094219 )
2016
46
Angiotensin receptor blockers (ARB) outperform angiotensin-converting enzyme (ACE) inhibitors on ischemic stroke prevention in patients with hypertension and diabetes - A real-world population study in Taiwan. ( 27111172 )
2016
47
Utilization of angiotensin converting enzyme inhibitors (ACEI) and angiotensin receptor blockers (ARB) in patients diagnosed with diabetes: Analysis from the National Ambulatory Medical Care Survey. ( 27419010 )
2016
48
Efficacy and Safety Assessment of Hypertension Management with Coveram (Perindopril/Amlodipine Fixed Combination) in Patients with Previous Angiotensin Receptor Blocker (ARB) Treatment: Arabian Gulf STRONG Study. ( 27456109 )
2016
49
On the top of ARB N/L type Ca channel blocker leads to less elevation of aldosterone. ( 27515419 )
2016
50
Byvalson--a beta blocker/ARB combination for hypertension. ( 27603961 )
2016

Variations for Bestrophinopathy, Autosomal Recessive

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 32)
# 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.652C> T (p.Arg218Cys) single nucleotide variant Pathogenic/Likely pathogenic rs281865238 GRCh37 Chromosome 11, 61724874: 61724874
16 BEST1 NM_004183.3(BEST1): c.652C> T (p.Arg218Cys) single nucleotide variant Pathogenic/Likely pathogenic rs281865238 GRCh38 Chromosome 11, 61957402: 61957402
17 BEST1 NM_004183.3(BEST1): c.658C> T (p.Gln220Ter) single nucleotide variant Likely pathogenic rs775283269 GRCh37 Chromosome 11, 61724880: 61724880
18 BEST1 NM_004183.3(BEST1): c.658C> T (p.Gln220Ter) single nucleotide variant Likely pathogenic rs775283269 GRCh38 Chromosome 11, 61957408: 61957408
19 BEST1 NM_004183.3(BEST1): c.400C> G (p.Leu134Val) single nucleotide variant Pathogenic rs753614067 GRCh38 Chromosome 11, 61955870: 61955870
20 BEST1 NM_004183.3(BEST1): c.400C> G (p.Leu134Val) single nucleotide variant Pathogenic rs753614067 GRCh37 Chromosome 11, 61723342: 61723342
21 BEST1 NM_004183.3(BEST1): c.1514_1515delTG (p.Val505Glufs) deletion Likely pathogenic rs752521456 GRCh37 Chromosome 11, 61730140: 61730141
22 BEST1 NM_004183.3(BEST1): c.1514_1515delTG (p.Val505Glufs) deletion Likely pathogenic rs752521456 GRCh38 Chromosome 11, 61962668: 61962669
23 BEST1 NM_004183.3(BEST1): c.275G> T (p.Arg92Leu) single nucleotide variant Likely pathogenic rs281865225 GRCh38 Chromosome 11, 61955745: 61955745
24 BEST1 NM_004183.3(BEST1): c.275G> T (p.Arg92Leu) single nucleotide variant Likely pathogenic rs281865225 GRCh37 Chromosome 11, 61723217: 61723217
25 BEST1 NM_004183.3(BEST1): c.684C> G (p.Asp228Glu) single nucleotide variant Likely pathogenic rs1431752515 GRCh37 Chromosome 11, 61724906: 61724906
26 BEST1 NM_004183.3(BEST1): c.684C> G (p.Asp228Glu) single nucleotide variant Likely pathogenic rs1431752515 GRCh38 Chromosome 11, 61957434: 61957434
27 BEST1 NM_004183.3(BEST1): c.956T> C (p.Leu319Pro) single nucleotide variant Pathogenic rs1554963305 GRCh38 Chromosome 11, 61959899: 61959899
28 BEST1 NM_004183.3(BEST1): c.956T> C (p.Leu319Pro) single nucleotide variant Pathogenic rs1554963305 GRCh37 Chromosome 11, 61727371: 61727371
29 BEST1 NM_004183.3(BEST1): c.1370C> G (p.Pro457Arg) single nucleotide variant Pathogenic rs1554964287 GRCh38 Chromosome 11, 61962524: 61962524
30 BEST1 NM_004183.3(BEST1): c.1370C> G (p.Pro457Arg) single nucleotide variant Pathogenic rs1554964287 GRCh37 Chromosome 11, 61729996: 61729996
31 BEST1 NM_004183.4(BEST1): c.695T> G (p.Ile232Ser) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 61724917: 61724917
32 BEST1 NM_004183.4(BEST1): c.695T> G (p.Ile232Ser) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 61957445: 61957445

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

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