MCID: BST001
MIFTS: 31

Bestrophinopathy

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Bestrophinopathy

MalaCards integrated aliases for Bestrophinopathy:

Name: Bestrophinopathy 38 12 13 44 15 73
Bestrophinopathy, Autosomal Recessive 73
Autosomal Recessive Bestrophinopathy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050662
MeSH 44 C567518

Summaries for Bestrophinopathy

MalaCards based summary : Bestrophinopathy, also known as bestrophinopathy, autosomal recessive, is related to bestrophinopathy, autosomal recessive and vitreoretinochoroidopathy. An important gene associated with Bestrophinopathy 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 Neuropathic Pain-Signaling in Dorsal Horn Neurons. Affiliated tissues include Eye and Eye, and related phenotypes are pigmentation and vision/eye

Related Diseases for Bestrophinopathy

Graphical network of the top 20 diseases related to Bestrophinopathy:



Diseases related to Bestrophinopathy

Symptoms & Phenotypes for Bestrophinopathy

MGI Mouse Phenotypes related to Bestrophinopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.26 BEST1 PRPH2 RLBP1 RPE65
2 vision/eye MP:0005391 9.02 BEST1 BEST2 PRPH2 RLBP1 RPE65

Drugs & Therapeutics for Bestrophinopathy

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

Cochrane evidence based reviews: bestrophinopathy

Genetic Tests for Bestrophinopathy

Anatomical Context for Bestrophinopathy

MalaCards organs/tissues related to Bestrophinopathy:

41
Eye
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Bestrophinopathy:
# Tissue Anatomical CompartmentCell Relevance
1 Eye Retinal Pigmented Epithelium Mature Retinal Pigmented Epithelium Cells Affected by disease, potential therapeutic candidate
2 Eye Retinal Pigmented Epithelium Retinal Pigmented Epithelium Progenitor Cells Affected by disease, potential therapeutic candidate

Publications for Bestrophinopathy

Articles related to Bestrophinopathy:

(show all 34)
# Title Authors Year
1
Mutant Best1 Expression and Impaired Phagocytosis in an iPSC Model of Autosomal Recessive Bestrophinopathy. ( 29540715 )
2018
2
Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients. ( 29976937 )
2018
3
BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes. ( 29668979 )
2018
4
AUTOSOMAL RECESSIVE BESTROPHINOPATHY: MULTIMODAL IMAGING UPDATE. ( 29384981 )
2018
5
CHANGES OF CONE PHOTORECEPTOR MOSAIC IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY. ( 30308565 )
2018
6
Clinical Course of Autosomal Recessive Bestrophinopathy Complicated by Choroidal Neovascularization. ( 30457648 )
2018
7
Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population. ( 30498755 )
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
Bestrophinopathy: An RPE-photoreceptor interface disease. ( 28111324 )
2017
11
Ten-Year Follow-Up after Bilateral Submacular Neovascular Membrane Removal in a Case of Autosomal Recessive Bestrophinopathy. ( 28559838 )
2017
12
A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance. ( 28481155 )
2017
13
Clinical and genetic findings of autosomal recessive bestrophinopathy in Japanese cohort. ( 27163236 )
2016
14
Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation. ( 27071392 )
2016
15
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
16
BESTROPHINOPATHY: A Spectrum of Ocular Abnormalities Caused by the c.614T>C Mutation in the BEST1 Gene. ( 26716959 )
2015
17
A novel BEST1 mutation in autosomal recessive bestrophinopathy. ( 26720466 )
2015
18
Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy. ( 26333019 )
2015
19
New best1 mutations in autosomal recessive bestrophinopathy. ( 25545482 )
2015
20
Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy. ( 25489231 )
2014
21
Use of Intravitreal Bevacizumab in a 9-year-old Child with Choroidal Neovascularization Associated with Autosomal Recessive Bestrophinopathy. ( 25265375 )
2014
22
Autosomal recessive bestrophinopathy associated with angle-closure glaucoma. ( 24859690 )
2014
23
Value of anti-VEGF treatment in choroidal neovascularization associated with autosomal recessive bestrophinopathy. ( 24459458 )
2013
24
Autosomal recessive bestrophinopathy: differential diagnosis and treatment options. ( 23290749 )
2013
25
Clinical and genetic misdiagnosis of autosomal recessive bestrophinopathy. ( 24337562 )
2013
26
Phenotype and genotype of patients with autosomal recessive bestrophinopathy. ( 21809908 )
2012
27
Unilateral vitelliform phenotype in autosomal recessive bestrophinopathy. ( 22584882 )
2012
28
Nonsense-mediated decay as the molecular cause for autosomal recessive bestrophinopathy in two unrelated families. ( 22199244 )
2012
29
Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. ( 21330666 )
2011
30
Childhood-onset autosomal recessive bestrophinopathy. ( 21825197 )
2011
31
Autosomal recessive bestrophinopathy: new observations on the retinal phenotype - clinical and molecular report of an Italian family. ( 21412020 )
2011
32
A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1. ( 21203346 )
2010
33
Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3). ( 21197113 )
2010
34
Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB). ( 18985398 )
2009

Variations for Bestrophinopathy

Expression for Bestrophinopathy

Search GEO for disease gene expression data for Bestrophinopathy.

Pathways for Bestrophinopathy

Pathways related to Bestrophinopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.85 BEST1 BEST2 CLCA1 CLCA2 CLCA4
2
Show member pathways
12.2 CLCA1 CLCA2 CLCA4
3
Show member pathways
11.53 CLCA1 CLCA2 CLCA4
4
Show member pathways
11.52 BEST1 BEST2 CLCA1 CLCA2 CLCA4
5 11.31 CLCA1 CLCA2 CLCA4
6
Show member pathways
11.14 RLBP1 RPE65
7 11.01 RLBP1 RPE65
8 10.94 CLCA1 CLCA2 CLCA4

GO Terms for Bestrophinopathy

Cellular components related to Bestrophinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell body GO:0044297 8.96 RLBP1 RPE65
2 chloride channel complex GO:0034707 8.62 BEST1 BEST2

Biological processes related to Bestrophinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.71 BEST1 BEST2 CLCA1 CLCA2
2 ion transmembrane transport GO:0034220 9.56 BEST1 CLCA1 CLCA2 CLCA4
3 retina development in camera-type eye GO:0060041 9.46 PRPH2 RPE65
4 visual perception GO:0007601 9.46 BEST1 PRPH2 RLBP1 RPE65
5 retinoid metabolic process GO:0001523 9.43 RLBP1 RPE65
6 detection of light stimulus involved in visual perception GO:0050908 9.37 BEST1 RPE65
7 chloride transmembrane transport GO:1902476 9.35 BEST1 BEST2 CLCA1 CLCA2 CLCA4
8 vitamin A metabolic process GO:0006776 9.32 RLBP1 RPE65
9 chloride transport GO:0006821 9.02 BEST1 BEST2 CLCA1 CLCA2 CLCA4

Molecular functions related to Bestrophinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metallopeptidase activity GO:0008237 9.43 CLCA1 CLCA2 CLCA4
2 metalloendopeptidase activity GO:0004222 9.33 CLCA1 CLCA2 CLCA4
3 intracellular calcium activated chloride channel activity GO:0005229 9.26 BEST1 CLCA1 CLCA2 CLCA4
4 chloride channel activity GO:0005254 9.02 BEST1 BEST2 CLCA1 CLCA2 CLCA4

Sources for Bestrophinopathy

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
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