Bestrophinopathy, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

Orphanet: ⁵⁹

Rare eye diseases

External Ids:

OMIM ⁵⁷ 611809

Orphanet ⁵⁹ ORPHA139455

ICD10 via Orphanet ³⁴ H35.5

MedGen ⁴² C3888198 C2678493

MeSH ⁴⁴ D012164

SNOMED-CT via HPO ⁶⁹ 258211005 38101003 13164000 more

UMLS ⁷³ C3888198 C2678493

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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

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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:

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Symptoms & Phenotypes for Bestrophinopathy, Autosomal Recessive

Clinical features from OMIM:

611809

Human phenotypes related to Bestrophinopathy, Autosomal Recessive:

³²

#	Description	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

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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

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Genetic Tests for Bestrophinopathy, Autosomal Recessive

Genetic tests related to Bestrophinopathy, Autosomal Recessive:

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

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Anatomical Context for Bestrophinopathy, Autosomal Recessive

MalaCards organs/tissues related to Bestrophinopathy, Autosomal Recessive:

⁴¹

Eye, Kidney, Heart

Sources

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 )	Marmorstein A.D....Pulido J.S.	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 )	Nakanishi A...Terasaki H	2018
5	Clinical Course of Autosomal Recessive Bestrophinopathy Complicated by Choroidal Neovascularization. ( 30457648 )	Introini U...Bandello F	2018
6	Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population. ( 30498755 )	Gao T...Zhao M	2018
7	NORMAL ELECTROOCULOGRAPHY IN BEST DISEASE AND AUTOSOMAL RECESSIVE BESTROPHINOPATHY. ( 28590961 )	Khan K.N....Michaelides M.	2017
8	Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy. ( 28687848 )	Tian L....Li Y.	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 )	Nakanishi A....Terasaki H.	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 )	Johnson A.A....Marmorstein A.D.	2015
14	A novel BEST1 mutation in autosomal recessive bestrophinopathy. ( 26720466 )	Lee C.S....Kim E.K.	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 )	Hussain R.N....Ch'ng S.W.	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 )	Madhusudhan S....Sahni J.N.	2013
20	Autosomal recessive bestrophinopathy: differential diagnosis and treatment options. ( 23290749 )	Boon C.J....van Schooneveld M.J.	2013
21	Clinical and genetic misdiagnosis of autosomal recessive bestrophinopathy. ( 24337562 )		2013
22	Phenotype and genotype of patients with autosomal recessive bestrophinopathy. ( 21809908 )	MacDonald I.M....Ayyagari R.	2012
23	Unilateral vitelliform phenotype in autosomal recessive bestrophinopathy. ( 22584882 )	Cascavilla M.L....Bandello F.	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 )	Davidson A.E....Manson F.D.	2011
26	Childhood-onset autosomal recessive bestrophinopathy. ( 21825197 )	Borman A.D....Moore A.T.	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 )	Davidson A.E....Webster A.R.	2010
29	Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB). ( 18985398 )	Gerth C...H?on E	2009

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Genes for Bestrophinopathy, Autosomal Recessive

Genes related to Bestrophinopathy, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	BEST1	Bestrophin 1	Protein Coding	1688.2	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Variants (show sections)	18179881 22234150 16754206 (more) 21192766
2	LOC107984334	Uncharacterized LOC107984334	RNA Gene	8.28	GeneCards inferred via : Variants (show sections)

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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

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Expression for Bestrophinopathy, Autosomal Recessive

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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Bestrophinopathy, Autosomal Recessive (ARB)

Aliases & Classifications for Bestrophinopathy, Autosomal Recessive

MalaCards integrated aliases for Bestrophinopathy, Autosomal Recessive:

Characteristics:

Orphanet epidemiological data:

HPO:

Classifications:

External Ids:

Summaries for Bestrophinopathy, Autosomal Recessive

Related Diseases for Bestrophinopathy, Autosomal Recessive

Diseases in the Bestrophinopathy family:

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

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

Symptoms & Phenotypes for Bestrophinopathy, Autosomal Recessive

Clinical features from OMIM:

Human phenotypes related to Bestrophinopathy, Autosomal Recessive:

Drugs & Therapeutics for Bestrophinopathy, Autosomal Recessive

Interventional clinical trials:

Genetic Tests for Bestrophinopathy, Autosomal Recessive

Genetic tests related to Bestrophinopathy, Autosomal Recessive:

Anatomical Context for Bestrophinopathy, Autosomal Recessive

MalaCards organs/tissues related to Bestrophinopathy, Autosomal Recessive:

Publications for Bestrophinopathy, Autosomal Recessive

Articles related to Bestrophinopathy, Autosomal Recessive:

Genes for Bestrophinopathy, Autosomal Recessive

Genes related to Bestrophinopathy, Autosomal Recessive (1 elite genes):

Variations for Bestrophinopathy, Autosomal Recessive

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

ClinVar genetic disease variations for Bestrophinopathy, Autosomal Recessive:

Expression for Bestrophinopathy, Autosomal Recessive

Pathways for Bestrophinopathy, Autosomal Recessive

GO Terms for Bestrophinopathy, Autosomal Recessive

Sources for Bestrophinopathy, Autosomal Recessive