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 ⁷³ ³⁸ ⁷¹

Autosomal Recessive Bestrophinopathy ¹¹ ¹⁹ ⁵⁸ ²⁸ ⁵ ⁷⁵

Bestrophinopathy ¹¹ ⁷³ ¹² ⁴³ ¹⁴ ⁷¹

Arb ⁵⁷ ⁷³

Retinopathy, Burgess-Black Type ⁵⁸

Retinopathy Burgess-Black Type ⁷³

Bestrophinopathies ²⁴

Characteristics:

Inheritance:

Autosomal Recessive Bestrophinopathy: Autosomal recessive ⁵⁸

Prevelance:

Autosomal Recessive Bestrophinopathy: <1/1000000 (Worldwide) ⁵⁸

Age Of Onset:

Autosomal Recessive Bestrophinopathy: All ages ⁵⁸

GeneReviews:

²⁴

Penetrance Bvmd shows high but reduced (>70%) penetrance, especially when electrooculogram is used as evidence of clinical expression....

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

Orphanet: ⁵⁸

Rare eye diseases

External Ids:

Disease Ontology ¹¹ DOID:0050662

OMIM® ⁵⁷ 611809

MeSH ⁴³ C567518 D012164

ICD10 via Orphanet ³² H35.5

Orphanet ⁵⁸ ORPHA139455

MedGen ⁴⁰ C2678493 C3888198

SNOMED-CT via HPO ⁶⁹ 13164000 247138002 38101003

UMLS ⁷¹ C2678493 C3888198

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Summaries for Bestrophinopathy, Autosomal Recessive

Disease Ontology: ¹¹ A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12.

MalaCards based summary: Bestrophinopathy, Autosomal Recessive, also known as autosomal recessive bestrophinopathy, is related to macular retinal edema and macular holes. An important gene associated with Bestrophinopathy, Autosomal Recessive is BEST1 (Bestrophin 1), and among its related pathways/superpathways are Visual phototransduction and Ion channel transport. Affiliated tissues include Eye, and related phenotypes are reduced visual acuity and hypermetropia

Orphanet: ⁵⁸ A rare retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).

UniProtKB/Swiss-Prot: ⁷³ A retinopathy characterized by loss of central vision, an absent electro-oculogram light rise, and electroretinogram anomalies.

Wikipedia: ⁷⁵ Autosomal recessive bestrophinopathy is a rare genetic disorder characterized by central vision loss,... more...

More information from OMIM: 611809

GeneReviews: NBK1167

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Related Diseases for Bestrophinopathy, Autosomal Recessive

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

(show top 50) (show all 239)

#	Related Disease	Score	Top Affiliating Genes
1	macular retinal edema	30.4	RPE65 CRB1 BEST1 ABCA4
2	macular holes	30.2	RPE65 RLBP1 ABCA4
3	macular dystrophy, vitelliform, 2	30.1	PRPH2 IMPG2 IMPG1 BEST1
4	macular dystrophy, vitelliform, 3	30.1	PRPH2 IMPG2 IMPG1 BEST1
5	macular dystrophy, dominant cystoid	29.6	RPGR RPE65 CRB1 BEST1 ABCA4
6	retinitis pigmentosa 50	29.5	RPE65 RLBP1 BEST2 BEST1
7	progressive cone dystrophy	29.3	RPGR PRPH2 CNGB3 ABCA4
8	retinal disease	29.2	RPGR RPE65 RLBP1 PRPH2 IMPG2 IMPG1
9	nanophthalmos	29.2	RPGR RPE65 PRPH2 CRB1 BEST1 ABCA4
10	peripheral retinal degeneration	29.0	RPGR RPE65 RLBP1 CNGB3 ABCA4
11	retinitis	29.0	RPGR RPE65 RLBP1 PRPH2 CRB1 ABCA4
12	retinoschisis 1, x-linked, juvenile	28.4	RPGR RPE65 RLBP1 PRPH2 CRB1 CNGB3
13	vitreoretinochoroidopathy	28.1	RPE65 RLBP1 PRPH2 IMPG2 IMPG1 BEST4
14	macular degeneration, age-related, 1	27.9	RPGR RPE65 RLBP1 PRPH2 IMPG2 IMPG1
15	cone dystrophy	27.6	RPGR RPE65 RLBP1 PRPH2 IMPG2 CRB1
16	retinal degeneration	27.6	RPGR RPE65 RLBP1 PRPH2 PRCD CRB1
17	vitelliform macular dystrophy	27.2	RPGR RPE65 RLBP1 PRPH2 IMPG2 IMPG1
18	retinitis pigmentosa	26.8	RPGR RPE65 RLBP1 PRPH2 PRCD IMPG2
19	fundus dystrophy	26.0	RPGR RPE65 RLBP1 PRPH2 PRCD IMPG2
20	hypertension, essential	10.4
21	microvascular complications of diabetes 1	10.4
22	microvascular complications of diabetes 2	10.4
23	microvascular complications of diabetes 3	10.4
24	microvascular complications of diabetes 4	10.4
25	microvascular complications of diabetes 5	10.4
26	microvascular complications of diabetes 6	10.4
27	microvascular complications of diabetes 7	10.4
28	chronic kidney disease	10.4
29	primary angle-closure glaucoma	10.3
30	patterned macular dystrophy	10.3	PRPH2 BEST1
31	aqueous misdirection	10.3	CRB1 BEST1
32	retinal detachment	10.3
33	microphthalmia, isolated 6	10.3	CRB1 BEST1
34	kidney disease	10.3
35	cold-induced sweating syndrome 3	10.3	RPE65 BEST1
36	acute closed-angle glaucoma	10.3	CRB1 BEST1
37	macular dystrophy, patterned, 2	10.2	PRPH2 BEST1
38	pseudopapilledema	10.2	RPE65 CRB1
39	congestive heart failure	10.2
40	toxic maculopathy	10.2	PRPH2 ABCA4
41	interval angle-closure glaucoma	10.2	BEST1 ABCA4
42	covid-19	10.2
43	severe acute respiratory syndrome	10.2
44	farsightedness	10.2
45	newfoundland rod-cone dystrophy	10.2	RLBP1 PRPH2
46	macular dystrophy, concentric annular	10.2	IMPG1 ABCA4
47	retinitis pigmentosa 91	10.2	IMPG1 ABCA4
48	leber congenital amaurosis 8	10.2	RPE65 CRB1
49	heart disease	10.2
50	lipid metabolism disorder	10.2

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

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Symptoms & Phenotypes for Bestrophinopathy, Autosomal Recessive

Human phenotypes related to Bestrophinopathy, Autosomal Recessive:

³⁰

#	Description	HPO Source Accession
1	reduced visual acuity ³⁰	HP:0007663
2	hypermetropia ³⁰	HP:0000540
3	retinal pigment epithelial atrophy ³⁰	HP:0007722
4	retinal flecks ³⁰	HP:0012045
5	decreased light- and dark-adapted electroretinogram amplitude ³⁰	HP:0000654

Clinical features from OMIM®:

611809 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Bestrophinopathy, Autosomal Recessive:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	pigmentation	MP:0001186	9.81	ABCA4 BEST1 CNGB1 CRB1 PRCD PRPH2
2	nervous system	MP:0003631	9.7	ABCA4 CNGB1 CNGB3 CRB1 IMPG1 IMPG2
3	vision/eye	MP:0005391	9.44	ABCA4 BEST1 BEST2 CNGB1 CNGB3 CRB1

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Drugs & Therapeutics for Bestrophinopathy, Autosomal Recessive

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Development of Induced Pluripotent Stem Cells From Patients With Best Disease and Other Inherited Retinal Degenerative Diseases.	Active, not recruiting	NCT02162953

Search NIH Clinical Center for Bestrophinopathy, Autosomal Recessive

Cochrane evidence based reviews: bestrophinopathy

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Genetic Tests for Bestrophinopathy, Autosomal Recessive

Genetic tests related to Bestrophinopathy, Autosomal Recessive:

#	Genetic test	Affiliating Genes
1	Autosomal Recessive Bestrophinopathy ²⁸	BEST1

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Anatomical Context for Bestrophinopathy, Autosomal Recessive

Organs/tissues related to Bestrophinopathy, Autosomal Recessive:

MalaCards : Eye, Retina

Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Bestrophinopathy, Autosomal Recessive:

#	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

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Publications for Bestrophinopathy, Autosomal Recessive

Articles related to Bestrophinopathy, Autosomal Recessive:

(show top 50) (show all 185)

#	Title	Authors	PMID	Year
1	A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy. ⁶² ⁵⁷ ⁵	Lee CS...Kim EK	26720466	2015
2	Biallelic mutation of BEST1 causes a distinct retinopathy in humans. ⁶² ⁵⁷ ⁵	Burgess R...Black GC	18179881	2008
3	Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy. ⁶² ²⁴ ⁵	Wivestad Jansson R...Wittstrom E	26333019	2016
4	The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. ⁶² ²⁴ ⁵	Boon CJ...den Hollander AI	19375515	2009
5	A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy. ²⁴ ⁵	Zhao L...Zhang K	22422030	2012
6	Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients. ²⁴ ⁵	Kinnick TR...Stone EM	21273940	2011
7	Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies. ⁶² ⁵	Nowomiejska K...Zrenner E	34327816	2022
8	Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene. ⁶² ⁵	Hufendiek K...Kellner U	33302512	2020
9	Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations. ⁶² ⁵	Shah M...Downes SM	32239196	2020
10	Novel BEST1 mutations and special clinical characteristics of autosomal recessive bestrophinopathy in Chinese patients. ⁶² ⁵	Luo J...Liu X	30593719	2019
11	IMAGING OF VITELLIFORM MACULAR LESIONS USING POLARIZATION-SENSITIVE OPTICAL COHERENCE TOMOGRAPHY. ⁶² ⁵	Deak GG...Ritter M	29215532	2019
12	BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure. ⁶² ⁵	Guziewicz KE...Aguirre GD	29507198	2018
13	Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population. ⁶² ⁵	Gao T...Zhao M	30498755	2018
14	Best Vitelliform Macular Dystrophy. ⁶² ⁵	Tsang SH...Sharma T	30578502	2018
15	Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy. ⁶² ⁵	Tian L...Li Y	28687848	2017
16	FUNCTIONAL AND ANATOMICAL OUTCOMES OF CHOROIDAL NEOVASCULARIZATION COMPLICATING BEST1-RELATED RETINOPATHY. ⁶² ⁵	Khan KN...Michaelides M	27764019	2017
17	Childhood-onset autosomal recessive bestrophinopathy. ⁶² ⁵	Borman AD...Moore AT	21825197	2011
18	Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. ⁶² ⁵	Davidson AE...Manson FD	21330666	2011
19	Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. ⁵	Maggi J...Berger W	33546218	2021
20	Patient-specific mutations impair BESTROPHIN1's essential role in mediating Ca2+-dependent Cl- currents in human RPE. ⁵	Li Y...Yang T	29063836	2017
21	The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes. ⁵	Motta FL...Sallum JMF	28819299	2017
22	Bestrophin 1 and retinal disease. ⁶² ²⁴	Johnson AA...Marmorstein AD	28153808	2017
23	Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies. ⁵	Riera M...Pomares E	28181551	2017
24	Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis. ⁵	Vincent A...Heon E	27258436	2016
25	Autosomal recessive bestrophinopathy: differential diagnosis and treatment options. ⁶² ²⁴	Boon CJ...van Schooneveld MJ	23290749	2013
26	High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population. ⁵	Corton M...Ayuso C	23379534	2013
27	Phenotype and genotype of patients with autosomal recessive bestrophinopathy. ⁶² ²⁴	MacDonald IM...Ayyagari R	21809908	2012
28	Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1. ⁵	Wittstrom E...Andreasson S	21192766	2011
29	Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. ⁶² ²⁴	Davidson AE...Manson FD	19853238	2009
30	Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane. ⁵	Milenkovic VM...Weber BH	17110374	2007
31	Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2. ⁵	Schatz P...Dahl N	16754206	2006
32	Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. ⁵	Lotery AJ...Stone EM	10798642	2000
33	Cortical image density determines the probability of target discovery during active search. ⁵	Motter BC...Holsapple JW	10788642	2000
34	The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. ²⁴	Stenson PD...Cooper DN	32596782	2020
35	THE FUNDUS PHENOTYPE ASSOCIATED WITH THE p.Ala243Val BEST1 MUTATION. ²⁴	Khan KN...Michaelides M	28225368	2018
36	Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations. ²⁴	Van Schil K...De Baere E	28749477	2018
37	Parental influence on human germline de novo mutations in 1,548 trios from Iceland. ²⁴	Jonsson H...Stefansson K	28959963	2017
38	Validation of copy number variation analysis for next-generation sequencing diagnostics. ²⁴	Ellingford JM...Black GC	28378820	2017
39	Vitelliform dystrophies: Prevalence in Olmsted County, Minnesota, United States. ²⁴	Dalvin LA...Marmorstein AD	27120116	2017
40	Timing, rates and spectra of human germline mutation. ²⁴	Rahbari R...Hurles ME	26656846	2016
41	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. ²⁴	Richards S...ACMG Laboratory Quality Assurance Committee	25741868	2015
42	A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode. ²⁴	Bitner H...Banin E	21467170	2011
43	The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene. ²⁴	Querques G...Souied EH	21436265	2011
44	Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications. ²⁴	Iannaccone A...Stone EM	21320969	2011
45	Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. ²⁴	Querques G...Souied EH	20057903	2009
46	A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene. ²⁴	Testa F...Simonelli F	18703557	2008
47	High-definition optical coherence tomography features in vitelliform macular dystrophy. ²⁴	Querques G...Souied EH	18619572	2008
48	Mutation analysis of the VMD2 gene in thai families with best macular dystrophy. ²⁴	Atchaneeyasakul LO...Limwongse C	18766995	2008
49	The best disease-linked Cl- channel hBest1 regulates Ca V 1 (L-type) Ca2+ channels via src-homology-binding domains. ²⁴	Yu K...Hartzell HC	18509027	2008
50	Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies. ²⁴	Hartzell HC...Chien LT	18391176	2008

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Genes for Bestrophinopathy, Autosomal Recessive

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

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	BEST1	Bestrophin 1	Protein Coding	1692.55	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	10788642 10798642 17110374 (more) 18179881 21273940 21330666 22422030 26333019 26720466 27764019 28687848 29063836 30498755 30593719 33546218 16754206 19375515 21192766 21825197 29215532 29507198 30578502 32239196 33302512 34327816
2	PRPH2	Peripherin 2	Protein Coding	30.89	Likely pathogenic ⁵ DISEASES inferred ¹⁴	33546218
3	CRB1	Crumbs Cell Polarity Complex Component 1	Protein Coding	30.8	Likely pathogenic ⁵ DISEASES inferred ¹⁴	23379534 28181551 27258436 (more) 28819299
4	BEST4	Bestrophin 4	Protein Coding	6.71	DISEASES inferred ¹⁴
5	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	6.56	DISEASES inferred ¹⁴
6	IMPG2	Interphotoreceptor Matrix Proteoglycan 2	Protein Coding	6.38	DISEASES inferred ¹⁴
7	IMPG1	Interphotoreceptor Matrix Proteoglycan 1	Protein Coding	6.38	DISEASES inferred ¹⁴
8	ABCA4	ATP Binding Cassette Subfamily A Member 4	Protein Coding	6.37	DISEASES inferred ¹⁴
9	RLBP1	Retinaldehyde Binding Protein 1	Protein Coding	6.06	DISEASES inferred ¹⁴
10	BEST3	Bestrophin 3	Protein Coding	6.03	DISEASES inferred ¹⁴
11	BEST2	Bestrophin 2	Protein Coding	6.01	DISEASES inferred ¹⁴
12	PRCD	Photoreceptor Disc Component	Protein Coding	5.75	DISEASES inferred ¹⁴
13	CNGB3	Cyclic Nucleotide Gated Channel Subunit Beta 3	Protein Coding	5.67	DISEASES inferred ¹⁴
14	CNGB1	Cyclic Nucleotide Gated Channel Subunit Beta 1	Protein Coding	5.64	DISEASES inferred ¹⁴
15	RPGR	Retinitis Pigmentosa GTPase Regulator	Protein Coding	5.44	DISEASES inferred ¹⁴

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Variations for Bestrophinopathy, Autosomal Recessive

ClinVar genetic disease variations for Bestrophinopathy, Autosomal Recessive:

⁵ (show all 34)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	BEST1	NM_004183.4(BEST1):c.949G>A (p.Val317Met)	SNV	Pathogenic	2742	rs121918287	GRCh37: 11:61727364-61727364 GRCh38: 11:61959892-61959892
2	BEST1	NM_004183.4(BEST1):c.1370C>G (p.Pro457Arg)	SNV	Pathogenic	522511	rs1554964287	GRCh37: 11:61729996-61729996 GRCh38: 11:61962524-61962524
3	BEST1	NM_004183.4(BEST1):c.956T>C (p.Leu319Pro)	SNV	Pathogenic	522530	rs1554963305	GRCh37: 11:61727371-61727371 GRCh38: 11:61959899-61959899
4	BEST1	NM_004183.4(BEST1):c.598C>T (p.Arg200Ter)	SNV	Pathogenic	2741	rs121918286	GRCh37: 11:61724432-61724432 GRCh38: 11:61956960-61956960
5	BEST1	NM_004183.4(BEST1):c.122T>C (p.Leu41Pro)	SNV	Pathogenic	2743	rs121918288	GRCh37: 11:61719400-61719400 GRCh38: 11:61951928-61951928
6	BEST1	NM_004183.4(BEST1):c.652C>T (p.Arg218Cys)	SNV	Pathogenic	99735	rs281865238	GRCh37: 11:61724874-61724874 GRCh38: 11:61957402-61957402
7	BEST1	NM_004183.4(BEST1):c.602T>C (p.Ile201Thr)	SNV	Pathogenic/Likely Pathogenic	99726	rs199529046	GRCh37: 11:61724436-61724436 GRCh38: 11:61956964-61956964
8	BEST1	NM_004183.4(BEST1):c.584C>T (p.Ala195Val)	SNV	Pathogenic/Likely Pathogenic	99725	rs200277476	GRCh37: 11:61724418-61724418 GRCh38: 11:61956946-61956946
9	CRB1	NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)	DEL	Likely Pathogenic	96659	rs398124615	GRCh37: 1:197297974-197297982 GRCh38: 1:197328844-197328852
10	PRPH2	NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)	SNV	Likely Pathogenic	98666	rs61755781	GRCh37: 6:42689651-42689651 GRCh38: 6:42721913-42721913
11	BEST1	NM_004183.4(BEST1):c.1013G>A (p.Trp338Ter)	SNV	Likely Pathogenic	1709024		GRCh37: 11:61727428-61727428 GRCh38: 11:61959956-61959956
12	BEST1	NM_004183.4(BEST1):c.400C>G (p.Leu134Val)	SNV	Likely Pathogenic	427886	rs753614067	GRCh37: 11:61723342-61723342 GRCh38: 11:61955870-61955870
13	BEST1	NM_004183.4(BEST1):c.422G>A (p.Arg141His)	SNV	Likely Pathogenic	2740	rs121918284	GRCh37: 11:61723364-61723364 GRCh38: 11:61955892-61955892
14	BEST1	NM_004183.4(BEST1):c.70T>C (p.Trp24Arg)	SNV	Likely Pathogenic	1056587		GRCh37: 11:61719348-61719348 GRCh38: 11:61951876-61951876
15	BEST1	NM_004183.4(BEST1):c.1622del (p.Leu541fs)	DEL	Likely Pathogenic	1448247		GRCh37: 11:61730248-61730248 GRCh38: 11:61962776-61962776
16	BEST1	NM_004183.4(BEST1):c.388C>A (p.Arg130Ser)	SNV	Likely Pathogenic	962776	rs750102662	GRCh37: 11:61723330-61723330 GRCh38: 11:61955858-61955858
17	BEST1	NM_004183.4(BEST1):c.638A>G (p.Glu213Gly)	SNV	Likely Pathogenic	1004951	rs748685592	GRCh37: 11:61724860-61724860 GRCh38: 11:61957388-61957388
18	BEST1	NM_004183.4(BEST1):c.1514_1515del (p.Val505fs)	MICROSAT	Likely Pathogenic	505511	rs752521456	GRCh37: 11:61730138-61730139 GRCh38: 11:61962666-61962667
19	BEST1	NM_004183.4(BEST1):c.365G>C (p.Arg122Pro)	SNV	Likely Pathogenic	1676943		GRCh37: 11:61723307-61723307 GRCh38: 11:61955835-61955835
20	BEST1	NM_004183.4(BEST1):c.-37+1G>T	SNV	Likely Pathogenic	438184	rs1555096248	GRCh37: 11:61717900-61717900 GRCh38: 11:61950428-61950428
21	BEST1	NM_004183.4(BEST1):c.695T>G (p.Ile232Ser)	SNV	Likely Pathogenic	599167	rs1565392261	GRCh37: 11:61724917-61724917 GRCh38: 11:61957445-61957445
22	BEST1	NM_004183.4(BEST1):c.424_426dup (p.Ser142dup)	DUP	Likely Pathogenic	829895	rs1591284563	GRCh37: 11:61723363-61723364 GRCh38: 11:61955891-61955892
23	BEST1	NM_004183.4(BEST1):c.658C>T (p.Gln220Ter)	SNV	Likely Pathogenic	422323	rs775283269	GRCh37: 11:61724880-61724880 GRCh38: 11:61957408-61957408
24	BEST1	NM_004183.4(BEST1):c.684C>G (p.Asp228Glu)	SNV	Likely Pathogenic	522450	rs1431752515	GRCh37: 11:61724906-61724906 GRCh38: 11:61957434-61957434
25	BEST1	NM_004183.4(BEST1):c.275G>T (p.Arg92Leu)	SNV	Likely Pathogenic	522452	rs281865225	GRCh37: 11:61723217-61723217 GRCh38: 11:61955745-61955745
26	BEST1	NM_004183.4(BEST1):c.448C>G (p.Arg150Gly)	SNV	Uncertain Significance	1028198	rs1177798663	GRCh37: 11:61723390-61723390 GRCh38: 11:61955918-61955918
27	BEST1	NM_004183.4(BEST1):c.949G>T (p.Val317Leu)	SNV	Uncertain Significance	1678581		GRCh37: 11:61727364-61727364 GRCh38: 11:61959892-61959892
28	BEST1	NM_004183.4(BEST1):c.533ACA[1] (p.Asn179del)	MICROSAT	Uncertain Significance	931318	rs775979290	GRCh37: 11:61724367-61724369 GRCh38: 11:61956895-61956897
29	BEST1	NM_004183.4(BEST1):c.105G>C (p.Glu35Asp)	SNV	Uncertain Significance	1695423		GRCh37: 11:61719383-61719383 GRCh38: 11:61951911-61951911
30	FTH1, BEST1	NM_004183.4(BEST1):c.1410G>A (p.Thr470=)	SNV	Benign	193666	rs149698	GRCh37: 11:61730036-61730036 GRCh38: 11:61962564-61962564
31	BEST1	NM_004183.4(BEST1):c.109T>C (p.Leu37=)	SNV	Benign	99678	rs1800007	GRCh37: 11:61719387-61719387 GRCh38: 11:61951915-61951915
32	BEST1	NM_004183.4(BEST1):c.868-99G>T	SNV	Benign	1192353		GRCh37: 11:61726871-61726871 GRCh38: 11:61959399-61959399
33	BEST1	NM_004183.4(BEST1):c.636+44C>T	SNV	Benign	1192494		GRCh37: 11:61724514-61724514 GRCh38: 11:61957042-61957042
34	BEST1	NM_004183.4(BEST1):c.867+327T>G	SNV	Benign	1181045		GRCh37: 11:61726097-61726097 GRCh38: 11:61958625-61958625

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

⁷³

#	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	rs1417478879
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

Sources

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

Pathways related to Bestrophinopathy, Autosomal Recessive according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Visual phototransduction ⁶⁶ Show member pathways Activation of the phototransduction cascade ⁶⁶ Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D) ⁶⁶ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁶ menaquinol-4 biosynthesis II ⁶¹ Metabolism of fat-soluble vitamins ⁶⁶ Metabolism of vitamin K ⁶⁶ Retinoid metabolism and transport ⁶⁶ retinol biosynthesis ⁶¹ The phototransduction cascade ⁶⁶ The retinoid cycle in cones (daylight vision) ⁶⁶ the visual cycle I (vertebrates) ⁶¹ Visual signal transduction: Rods ⁶¹ Vitamin E ⁶⁶	12.1	RPE65 RLBP1 CNGB1 ABCA4
2	Ion channel transport ⁶⁶ Show member pathways Stimuli-sensing channels ⁶⁶	11.93	BEST4 BEST3 BEST2 BEST1
3	Diseases of the neuronal system ⁶⁶ Show member pathways Biosynthesis of A2E, implicated in retinal degradation ⁶⁶ Diseases associated with visual transduction ⁶⁶ Retinoid cycle disease events ⁶⁶ The canonical retinoid cycle in rods (twilight vision) ⁶⁶	10.97	RPE65 RLBP1 ABCA4
4	Visual Cycle in Retinal Rods ⁶⁴	10.9	RPE65 RLBP1 CNGB3 CNGB1
5	Visual signal transduction: Cones ⁶¹	10.68	RPE65 CNGB3

Sources

GO Terms for Bestrophinopathy, Autosomal Recessive

Cellular components related to Bestrophinopathy, Autosomal Recessive according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane	GO:0016021	10.51	PRPH2 IMPG2 CRB1 CNGB3 CNGB1 BEST4
2	membrane	GO:0016020	10.51	PRPH2 IMPG2 CRB1 CNGB3 CNGB1 BEST4
3	photoreceptor inner segment	GO:0001917	9.88	PRPH2 IMPG1 CRB1
4	cell projection	GO:0042995	9.76	RPGR PRPH2 PRCD IMPG2 IMPG1 CRB1
5	transmembrane transporter complex	GO:1902495	9.67	CNGB3 CNGB1
6	intracellular cyclic nucleotide activated cation channel complex	GO:0017071	9.62	CNGB1 CNGB3
7	interphotoreceptor matrix	GO:0033165	9.56	IMPG2 IMPG1
8	chloride channel complex	GO:0034707	9.56	BEST4 BEST3 BEST2 BEST1
9	photoreceptor outer segment	GO:0001750	9.5	RPGR PRPH2 PRCD IMPG1 CRB1 CNGB3

Biological processes related to Bestrophinopathy, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	chloride transmembrane transport	GO:1902476	10.03	BEST1 BEST2 BEST3 BEST4
2	photoreceptor cell maintenance	GO:0045494	9.93	CRB1 CNGB1 ABCA4
3	monoatomic ion transport	GO:0006811	9.88	CNGB3 CNGB1 BEST4 BEST3 BEST2 BEST1
4	detection of light stimulus involved in visual perception	GO:0050908	9.85	RPE65 PRPH2 CRB1 CNGB1 BEST1
5	membrane depolarization	GO:0051899	9.83	CNGB1 BEST2
6	retinal metabolic process	GO:0042574	9.81	RPE65 ABCA4
7	retina development in camera-type eye	GO:0060041	9.8	RPE65 PRPH2 CRB1
8	photoreceptor cell outer segment organization	GO:0035845	9.8	PRPH2 CRB1 CNGB1
9	vitamin A metabolic process	GO:0006776	9.78	RPE65 RLBP1
10	chloride transport	GO:0006821	9.77	BEST4 BEST3 BEST2 BEST1
11	response to stimulus	GO:0050896	9.73	ABCA4 BEST1 CNGB1 CNGB3 PRCD PRPH2
12	visual perception	GO:0007601	9.68	RPGR RPE65 RLBP1 PRPH2 PRCD IMPG2
13	retina morphogenesis in camera-type eye	GO:0060042	9.65	CRB1 IMPG2 RPE65

Molecular functions related to Bestrophinopathy, Autosomal Recessive according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cGMP binding	GO:0030553	9.62	CNGB3 CNGB1
2	intracellular cAMP-activated cation channel activity	GO:0005222	9.56	CNGB3 CNGB1
3	11-cis retinal binding	GO:0005502	9.46	RLBP1 ABCA4
4	intracellular cGMP-activated cation channel activity	GO:0005223	9.26	CNGB3 CNGB1
5	chloride channel activity	GO:0005254	9.23	BEST4 BEST3 BEST2 BEST1

Sources

Sources for Bestrophinopathy, Autosomal Recessive

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

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⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

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¹³ DiseaseEnhancer

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¹⁵ DrugBank

¹⁶ EFO

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¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

ARB MCID: BST008 MIFTS: 48	Bestrophinopathy, Autosomal Recessive (ARB) Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Bestrophinopathy, Autosomal Recessive (ARB)

Aliases & Classifications for Bestrophinopathy, Autosomal Recessive

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Summaries for Bestrophinopathy, Autosomal Recessive

Related Diseases for Bestrophinopathy, Autosomal Recessive

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

Expression for Bestrophinopathy, Autosomal Recessive

Pathways for Bestrophinopathy, Autosomal Recessive

Pathways related to Bestrophinopathy, Autosomal Recessive according to GeneCards Suite gene sharing:

GO Terms for Bestrophinopathy, Autosomal Recessive

Cellular components related to Bestrophinopathy, Autosomal Recessive according to GeneCards Suite gene sharing:

Biological processes related to Bestrophinopathy, Autosomal Recessive according to GeneCards Suite gene sharing:

Molecular functions related to Bestrophinopathy, Autosomal Recessive according to GeneCards Suite gene sharing:

Sources for Bestrophinopathy, Autosomal Recessive