VMD2
MCID: MCL066
MIFTS: 48

Macular Dystrophy, Vitelliform, 2 (VMD2)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Macular Dystrophy, Vitelliform, 2

MalaCards integrated aliases for Macular Dystrophy, Vitelliform, 2:

Name: Macular Dystrophy, Vitelliform, 2 57 72
Best Macular Dystrophy 57 20 58 72 13
Juvenile-Onset Vitelliform Macular Dystrophy 20 58 72 70
Vitelliform Macular Dystrophy Type 2 20 58 29 6
Macular Degeneration, Polymorphic Vitelline 57 20 72
Early-Onset Vitelliform Macular Dystrophy 20 58 72
Best Vitelliform Macular Dystrophy 20 58 72
Best Disease 20 58 72
Vmd2 57 20 72
Bmd 57 58 72
Best Vitelliform Macular Dystrophy, Multifocal 57 72
Polymorphic Vitelline Macular Degeneration 20 58
Bvmd 20 58
Vitelliform Macular Dystrophy, Juvenile-Onset 57
Vitelliform Macular Dystrophy, Early-Onset 57
Vitelliform Macular Dystrophy 70
Best Macular Dystrophy; Bmd 57
Best's Macular Dystrophy 72
Vmd 72

Characteristics:

Orphanet epidemiological data:

58
best vitelliform macular dystrophy
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Denmark),1-5/10000 (Sweden),1-9/100000 (Europe); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable age of onset, from early childhood to seventh decade of life
some patients with vitelliform macular dystrophy are homozygous or compound heterozygous for mutations in best1, with their heterozygous relatives showing milder forms of eye disease


HPO:

31
macular dystrophy, vitelliform, 2:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

OMIM® 57 153700
OMIM Phenotypic Series 57 PS153840
MeSH 44 D057826
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 71 C0339510 C2745945
Orphanet 58 ORPHA1243
UMLS 70 C0339510 C2745945

Summaries for Macular Dystrophy, Vitelliform, 2

OMIM® : 57 Best vitelliform macular dystrophy is an early-onset autosomal dominant disorder characterized by large deposits of lipofuscin-like material in the subretinal space, which creates characteristic macular lesions resembling the yolk of an egg ('vitelliform'). Although the diagnosis of Best disease is often made during the childhood years, it is more frequently made much later and into the sixth decade of life. In addition, the typical egg yolk-like lesion is present only during a limited period in the natural evolution of the disease; later, the affected area becomes deeply and irregularly pigmented and a process called 'scrambling the egg' occurs, at which point the lesion may appear as a 'bull's eye.' The disorder is progressive and loss of vision may occur. A defining characteristic of Best disease is a light peak/dark trough ratio of the electrooculogram (EOG) of less than 1.5, without aberrations in the clinical electroretinogram (ERG). Even otherwise asymptomatic carriers of BEST1 mutations, as assessed by pedigree, will exhibit an altered EOG. Histopathologically, the disease has been shown to manifest as a generalized retinal pigment epithelium (RPE) abnormality associated with excessive lipofuscin accumulation, regions of geographic RPE atrophy, and deposition of abnormal fibrillar material beneath the RPE, similar to drusen. Occasional breaks in the Bruch membrane with accompanying neovascularization have also been reported, although Best disease is not noted for extensive choroidal neovascularization. Many of these features are also found in age-related macular degeneration (see 603075) (summary by Braley, 1966; White et al., 2000; Marmorstein et al., 2000; Leroy, 2012). For a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 (153840). (153700) (Updated 05-Apr-2021)

MalaCards based summary : Macular Dystrophy, Vitelliform, 2, also known as best macular dystrophy, is related to vitelliform macular dystrophy and chorioretinal scar. An important gene associated with Macular Dystrophy, Vitelliform, 2 is BEST1 (Bestrophin 1). The drugs Ranibizumab and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related phenotypes are cystoid macular degeneration and metamorphopsia

GARD : 20 Best vitelliform macular dystrophy (BVMD) is a slowly progressive form of macular degeneration. It usually begins in childhood or adolescence, but age of onset and severity of vision loss can vary. Affected people first have normal vision, followed by decreased central visual acuity and distorted vision (metamorphopsia). Peripheral vision is not affected. BVMD is characterized by atrophy of the retinal pigment epithelium (The retina is the back part of the eye that contains the specialized cells that respond to light, known as photoreceptors) and impaired central visual function. BVMD is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has been reported. The condition is typically caused by mutations in the BEST1 gene ; in a few cases the cause is unknown. Treatment is symptomatic and involves the use of low vision aids, and direct laser treatment or photodynamic therapy. Newer treatment includes anti-VEGF agents ( bevacizumab ) and transcorneal electrical retinal stimulation.

UniProtKB/Swiss-Prot : 72 Macular dystrophy, vitelliform, 2: An autosomal dominant form of macular degeneration that usually begins in childhood or adolescence. VMD2 is characterized by typical 'egg- yolk' macular lesions due to abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. Progression of the disease leads to destruction of the retinal pigment epithelium and vision loss.

Related Diseases for Macular Dystrophy, Vitelliform, 2

Diseases in the Vitelliform Macular Dystrophy family:

Macular Dystrophy, Vitelliform, 2 Macular Dystrophy, Vitelliform, 1
Macular Dystrophy, Vitelliform, 3 Macular Dystrophy, Vitelliform, 4
Macular Dystrophy, Vitelliform, 5

Diseases related to Macular Dystrophy, Vitelliform, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 223)
# Related Disease Score Top Affiliating Genes
1 vitelliform macular dystrophy 30.5 PRPH2 IMPG2 IMPG1 BEST1
2 chorioretinal scar 30.2 IMPG2 BEST1
3 macular degeneration, age-related, 1 29.4 PRPH2 IMPG2 IMPG1 BEST1
4 nanophthalmos 29.4 PRPH2 BEST1
5 stargardt disease 29.3 PRPH2 IMPG2 IMPG1 BEST1
6 bestrophinopathy, autosomal recessive 29.3 PRPH2 IMPG2 IMPG1 BEST1
7 macular dystrophy, vitelliform, 3 29.0 PRPH2 IMPG2 IMPG1 BEST1
8 vitreoretinochoroidopathy 28.9 PRPH2 IMPG2 IMPG1 BEST1
9 fundus dystrophy 28.8 PRPH2 IMPG2 IMPG1 BEST1
10 retinal disease 28.6 PRPH2 IMPG2 IMPG1 BEST1
11 retinitis pigmentosa 28.6 PRPH2 IMPG2 IMPG1 BEST1
12 muscular dystrophy, becker type 11.6
13 osteoporosis 11.3
14 dystrophinopathies 11.2
15 muscular dystrophy, duchenne type 11.2
16 trichodentoosseous syndrome 11.1
17 macular dystrophy, vitelliform, 1 11.1
18 bone mineral density quantitative trait locus 8 10.8
19 bone mineral density quantitative trait locus 15 10.8
20 muscular dystrophy 10.6
21 bone resorption disease 10.5
22 bone mineral density quantitative trait locus 3 10.5
23 scotoma 10.3
24 refractive error 10.3
25 bone disease 10.3
26 body mass index quantitative trait locus 1 10.2
27 acute closed-angle glaucoma 10.2
28 retinal vascular disease 10.2
29 macular retinal edema 10.2
30 arterial calcification, generalized, of infancy, 1 10.2
31 neuroretinitis 10.1
32 retinitis 10.1
33 sclerosteosis 10.1
34 anorexia nervosa 10.1
35 myeloma, multiple 10.1
36 rheumatoid arthritis 10.0
37 brittle bone disorder 10.0
38 rickets 10.0
39 hyperparathyroidism 10.0
40 hypogonadism 10.0
41 mood disorder 10.0
42 osteoarthritis 10.0
43 muscular dystrophy, duchenne and becker type 10.0
44 48,xyyy 10.0
45 thalassemia 10.0
46 microphthalmia 10.0
47 retinal degeneration 10.0
48 inherited retinal disorder 10.0
49 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.0
50 central serous chorioretinopathy 10.0

Graphical network of the top 20 diseases related to Macular Dystrophy, Vitelliform, 2:



Diseases related to Macular Dystrophy, Vitelliform, 2

Symptoms & Phenotypes for Macular Dystrophy, Vitelliform, 2

Human phenotypes related to Macular Dystrophy, Vitelliform, 2:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cystoid macular degeneration 58 31 hallmark (90%) Very frequent (99-80%) HP:0008028
2 metamorphopsia 58 31 hallmark (90%) Very frequent (99-80%) HP:0012508
3 color vision defect 58 31 frequent (33%) Frequent (79-30%) HP:0000551
4 choroideremia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001139
5 visual field defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001123
6 visual impairment 58 31 Very frequent (99-80%) HP:0000505
7 abnormal electroretinogram 31 HP:0000512
8 reduced visual acuity 31 HP:0007663
9 macular dystrophy 31 HP:0007754
10 subretinal fluid 31 HP:0031526

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
decreased visual acuity
vitelliform ('egg-yolk') deposits, macular or multifocal
abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium (rpe) on optical coherence tomography (oct)
thickening and elevation of the outer retina-rpe-choroid complex on oct
intraretinal and subretinal fluid in cystic spaces with splitting of retina on oct
more

Clinical features from OMIM®:

153700 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Macular Dystrophy, Vitelliform, 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability ratio GR00368-A 8.92 BEST1 IMPG1 IMPG2 PRPH2

Drugs & Therapeutics for Macular Dystrophy, Vitelliform, 2

Drugs for Macular Dystrophy, Vitelliform, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 1, Phase 2 347396-82-1 459903
2
Sodium citrate Approved, Investigational Phase 2 68-04-2
3
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
4 Angiogenesis Inhibitors Phase 1, Phase 2
5 Citrate Phase 2
6 Vasodilator Agents Phase 2
7 Phosphodiesterase Inhibitors Phase 2
8 Phosphodiesterase 5 Inhibitors Phase 2
9 Sildenafil Citrate Phase 2 171599-83-0

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related Maculopathy With Intravitreal Injection of Lucentis (Ranibizumab Injection) Completed NCT00470977 Phase 1, Phase 2 ranibizumab injection (0.5 mg)
2 Sildenafil for Treatment of Choroidal Ischemia Recruiting NCT04356716 Phase 2 Sildenafil
3 Phase I Trial of Ocular Subretinal Injection of a Recombinant Adeno-Associated Virus (rAAV2-VMD2-hMERTK) Gene Vector to Patients With Retinal Disease Due to MERTK Mutations Recruiting NCT01482195 Phase 1
4 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 Macular Dystrophy, Vitelliform, 2

Genetic Tests for Macular Dystrophy, Vitelliform, 2

Genetic tests related to Macular Dystrophy, Vitelliform, 2:

# Genetic test Affiliating Genes
1 Vitelliform Macular Dystrophy Type 2 29 BEST1

Anatomical Context for Macular Dystrophy, Vitelliform, 2

MalaCards organs/tissues related to Macular Dystrophy, Vitelliform, 2:

40
Eye, Retina

Publications for Macular Dystrophy, Vitelliform, 2

Articles related to Macular Dystrophy, Vitelliform, 2:

(show top 50) (show all 101)
# Title Authors PMID Year
1
Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2. 61 57 6
16754206 2006
2
Identification of the gene responsible for Best macular dystrophy. 61 6 57
9662395 1998
3
Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1. 6 57
21192766 2011
4
Clinical and genetic heterogeneity in multifocal vitelliform dystrophy. 6 57
17698758 2007
5
Late development of vitelliform lesions and flecks in a patient with best disease: clinicopathologic correlation. 57 6
16286623 2005
6
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration. 6 57
10854112 2000
7
Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies. 57 6
10453731 1999
8
Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. 57 6
10331951 1999
9
Hereditary maculardegeneration (HMD) in 246 cases traced to one gene-source in central Sweden. 6 57
838599 1977
10
HEREDITARY VITELLINE MACULAR DEGENERATION. A CLINICAL AND FUNCTIONAL EVALUATION OF A NEW PEDIGREE WITH VARIABLE EXPRESSIVITY AND DOMINANT INHERITANCE. 57 6
14205432 1964
11
Biallelic mutation of BEST1 causes a distinct retinopathy in humans. 6 61
18179881 2008
12
Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease. 57 61
17460247 2007
13
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. 6
33546218 2021
14
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 6
30718709 2019
15
Near-infrared fundus autofluorescence in subclinical best vitelliform macular dystrophy. 57
25174897 2014
16
Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes. 57
25085631 2014
17
Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1. 6
24560797 2014
18
A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode. 6
21467170 2011
19
OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations. 57
21077756 2011
20
Suppression of Ca2+ signaling in a mouse model of Best disease. 57
20053664 2010
21
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. 6
19853238 2009
22
A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene. 6
18703557 2008
23
Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease. 57
17591911 2007
24
Indocyanine green angiography abnormality of the periphery in vitelliform macular dystrophy. 57
16678528 2006
25
Optical coherence tomography in Best's disease: an observational case report. 57
15734003 2005
26
Visual outcome following subretinal hemorrhage in Best disease. 6
11756879 2001
27
Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium. 57
11050159 2000
28
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. 6
10798642 2000
29
VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies. 57
10737974 2000
30
Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). 6
9700209 1998
31
A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1. 57
9445487 1998
32
Refined genetic localization of the Best disease gene in 11q13 and physical mapping of linked markers on radiation hybrids. 57
9439653 1997
33
Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. 57
9338584 1997
34
Linkage study of Best's vitelliform macular dystrophy (VMD2) in a large North American family. 57
8807324 1996
35
Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy. 57
8592326 1995
36
Fine mapping of Best's macular dystrophy localizes the gene in close proximity to but distinct from the D11S480/ROM1 loci. 57
7713492 1994
37
Molecular evidence for non-penetrance in Best's disease. 57
8064817 1994
38
Best's vitelliform dystrophy (VMD2) maps between D11S903 and PYGM: no evidence for locus heterogeneity. 57
8020974 1994
39
Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1. 57
8279475 1994
40
The gene for Best's macular dystrophy is located at 11q13 in a Swedish family. 57
1395087 1992
41
Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. 57
1302019 1992
42
Adult vitelliform macular dystrophy. 57
2323472 1990
43
Histopathologic findings in Best's vitelliform macular dystrophy. 57
3415551 1988
44
Linkage studies of Best's macular dystrophy. 57
3165727 1988
45
De novo del(6)(q25) associated with macular degeneration. 57
3487275 1986
46
Dominantly inherited macular degeneration (Best's disease) in a homozygous father with 11 children. 57
7438501 1980
47
Hereditary vitelliform macular degeneration: variable fundus findings within a single pedigree. 57
869756 1977
48
Replication pattern of the X chromosomes in three X/autosomal translocations. 57
884969 1977
49
Vitelliform dystrophy in a 64-year-old man. 57
949078 1976
50
Electro-oculography in families with vitelliform dystrophy of the fovea. Detection of the carrier state. 57
5774285 1969

Variations for Macular Dystrophy, Vitelliform, 2

ClinVar genetic disease variations for Macular Dystrophy, Vitelliform, 2:

6 (show top 50) (show all 138)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BEST1 NM_004183.4(BEST1):c.279G>C (p.Trp93Cys) SNV Pathogenic 2727 rs28940273 GRCh37: 11:61723221-61723221
GRCh38: 11:61955749-61955749
2 BEST1 NM_004183.4(BEST1):c.896G>A (p.Gly299Glu) SNV Pathogenic 2729 rs28941468 GRCh37: 11:61726998-61726998
GRCh38: 11:61959526-61959526
3 BEST1 NM_004183.4(BEST1):c.87C>G (p.Tyr29Ter) SNV Pathogenic 2730 rs121918285 GRCh37: 11:61719365-61719365
GRCh38: 11:61951893-61951893
4 BEST1 NM_004183.4(BEST1):c.679T>A (p.Tyr227Asn) SNV Pathogenic 2731 rs28941469 GRCh37: 11:61724901-61724901
GRCh38: 11:61957429-61957429
5 BEST1 NM_004183.4(BEST1):c.16A>C (p.Thr6Pro) SNV Pathogenic 2732 rs28940275 GRCh37: 11:61719294-61719294
GRCh38: 11:61951822-61951822
6 BEST1 NM_004183.4(BEST1):c.25G>A (p.Val9Met) SNV Pathogenic 2734 rs28940276 GRCh37: 11:61719303-61719303
GRCh38: 11:61951831-61951831
7 BEST1 NM_004183.4(BEST1):c.910G>A (p.Asp304Asn) SNV Pathogenic 496689 rs1554963095 GRCh37: 11:61727012-61727012
GRCh38: 11:61959540-61959540
8 BEST1 NM_004183.4(BEST1):c.888C>G (p.Asn296Lys) SNV Pathogenic 559498 rs1554963058 GRCh37: 11:61726990-61726990
GRCh38: 11:61959518-61959518
9 BEST1 NM_004183.4(BEST1):c.29C>T (p.Ala10Val) SNV Pathogenic 99709 rs281865207 GRCh37: 11:61719307-61719307
GRCh38: 11:61951835-61951835
10 BEST1 NM_004183.4(BEST1):c.665G>T (p.Gly222Val) SNV Pathogenic 99739 rs281865241 GRCh37: 11:61724887-61724887
GRCh38: 11:61957415-61957415
11 BEST1 NM_004183.4(BEST1):c.294G>C (p.Glu98Asp) SNV Pathogenic 812230 rs1591283793 GRCh37: 11:61723236-61723236
GRCh38: 11:61955764-61955764
12 BEST1 NM_004183.4(BEST1):c.908A>T (p.Asp303Val) SNV Pathogenic 812233 rs1591301548 GRCh37: 11:61727010-61727010
GRCh38: 11:61959538-61959538
13 BEST1 NM_004183.4(BEST1):c.851A>T (p.Tyr284Phe) SNV Pathogenic 813024 GRCh37: 11:61725754-61725754
GRCh38: 11:61958282-61958282
14 IMPG2 NM_016247.4(IMPG2):c.455G>A (p.Gly152Asp) SNV Pathogenic 813258 GRCh37: 3:101023036-101023036
GRCh38: 3:101304192-101304192
15 BEST1 NM_004183.4(BEST1):c.74G>A (p.Arg25Gln) SNV Pathogenic 99752 rs281865215 GRCh37: 11:61719352-61719352
GRCh38: 11:61951880-61951880
16 BEST1 NM_004183.4(BEST1):c.172_173dup (p.Gln58fs) Duplication Pathogenic 162042 rs672601356 GRCh37: 11:61722596-61722597
GRCh38: 11:61955124-61955125
17 IMPG1 NM_001563.4(IMPG1):c.807+1G>C SNV Pathogenic 813048 GRCh37: 6:76728434-76728434
GRCh38: 6:76018717-76018717
18 PRPH2 NM_000322.5(PRPH2):c.612C>A (p.Tyr204Ter) SNV Pathogenic 973708 GRCh37: 6:42672319-42672319
GRCh38: 6:42704581-42704581
19 BEST1 NM_004183.4(BEST1):c.58C>G (p.Leu20Val) SNV Pathogenic 636000 rs1591266379 GRCh37: 11:61719336-61719336
GRCh38: 11:61951864-61951864
20 BEST1 NM_004183.4(BEST1):c.904G>A (p.Asp302Asn) SNV Pathogenic 636001 rs281865262 GRCh37: 11:61727006-61727006
GRCh38: 11:61959534-61959534
21 BEST1 NM_004183.4(BEST1):c.905A>C (p.Asp302Ala) SNV Pathogenic 636002 rs281865263 GRCh37: 11:61727007-61727007
GRCh38: 11:61959535-61959535
22 BEST1 NM_004183.4(BEST1):c.887A>G (p.Asn296Ser) SNV Pathogenic 99764 rs281865255 GRCh37: 11:61726989-61726989
GRCh38: 11:61959517-61959517
23 BEST1 NM_004183.4(BEST1):c.436_437delinsAA (p.Ala146Lys) Indel Pathogenic 2736 rs1800995 GRCh37: 11:61723378-61723379
GRCh38: 11:61955906-61955907
24 BEST1 NM_004183.4(BEST1):c.1468_1469CA[1] (p.His490fs) Microsatellite Pathogenic 2739 rs281865528 GRCh37: 11:61730094-61730095
GRCh38: 11:61962622-61962623
25 BEST1 NM_004183.4(BEST1):c.680A>G (p.Tyr227Cys) SNV Pathogenic 2749 rs267606677 GRCh37: 11:61724902-61724902
GRCh38: 11:61957430-61957430
26 BEST1 NM_004183.4(BEST1):c.652C>T (p.Arg218Cys) SNV Pathogenic 99735 rs281865238 GRCh37: 11:61724874-61724874
GRCh38: 11:61957402-61957402
27 BEST1 NM_004183.4(BEST1):c.874G>A (p.Glu292Lys) SNV Pathogenic 265047 rs886039311 GRCh37: 11:61726976-61726976
GRCh38: 11:61959504-61959504
28 PRPH2 NM_000322.5(PRPH2):c.828+3A>T SNV Pathogenic 98713 rs281865373 GRCh37: 6:42672100-42672100
GRCh38: 6:42704362-42704362
29 BEST1 NM_004183.4(BEST1):c.1315C>T (p.Gln439Ter) SNV Pathogenic 813025 GRCh37: 11:61729941-61729941
GRCh38: 11:61962469-61962469
30 BEST1 NM_004183.4(BEST1):c.712del (p.Gln238fs) Deletion Pathogenic 444256 rs1555100476 GRCh37: 11:61724934-61724934
GRCh38: 11:61957462-61957462
31 PRPH2 NM_000322.5(PRPH2):c.582-1G>C SNV Pathogenic 813082 GRCh37: 6:42672350-42672350
GRCh38: 6:42704612-42704612
32 IMPG2 NM_016247.4(IMPG2):c.3142C>T (p.Arg1048Trp) SNV Pathogenic 342339 rs770293441 GRCh37: 3:100951716-100951716
GRCh38: 3:101232872-101232872
33 BEST1 NM_004183.4(BEST1):c.355G>C (p.Glu119Gln) SNV Pathogenic 2735 rs1805142 GRCh37: 11:61723297-61723297
GRCh38: 11:61955825-61955825
34 BEST1 NM_004183.4(BEST1):c.404G>A (p.Gly135Asp) SNV Pathogenic 812231 rs1159966472 GRCh37: 11:61723346-61723346
GRCh38: 11:61955874-61955874
35 PRPH2 NM_000322.5(PRPH2):c.904G>T (p.Glu302Ter) SNV Pathogenic 98717 rs61748430 GRCh37: 6:42666170-42666170
GRCh38: 6:42698432-42698432
36 PRPH2 NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg) SNV Pathogenic 13173 rs61755798 GRCh37: 6:42672302-42672302
GRCh38: 6:42704564-42704564
37 PRPH2 NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) SNV Pathogenic 13170 rs61755792 GRCh37: 6:42689559-42689559
GRCh38: 6:42721821-42721821
38 BEST1 NM_004183.4(BEST1):c.253T>C (p.Tyr85His) SNV Pathogenic/Likely pathogenic 2728 rs28940274 GRCh37: 11:61723195-61723195
GRCh38: 11:61955723-61955723
39 BEST1 NM_004183.4(BEST1):c.140G>A (p.Arg47His) SNV Pathogenic/Likely pathogenic 2738 rs28940278 GRCh37: 11:61719418-61719418
GRCh38: 11:61951946-61951946
40 BEST1 NM_004183.4(BEST1):c.287A>G (p.Gln96Arg) SNV Likely pathogenic 635998 rs1225032182 GRCh37: 11:61723229-61723229
GRCh38: 11:61955757-61955757
41 BEST1 NM_004183.4(BEST1):c.295A>C (p.Asn99His) SNV Likely pathogenic 635999 rs1591283811 GRCh37: 11:61723237-61723237
GRCh38: 11:61955765-61955765
42 BEST1 NM_004183.4(BEST1):c.915T>G (p.Phe305Leu) SNV Likely pathogenic 623155 rs1565036465 GRCh37: 11:61727017-61727017
GRCh38: 11:61959545-61959545
43 BEST1 NM_004183.4(BEST1):c.1444del (p.Glu482fs) Deletion Likely pathogenic 931891 GRCh37: 11:61730070-61730070
GRCh38: 11:61962598-61962598
44 PRPH2 NM_000322.5(PRPH2):c.903_906del (p.Ser301fs) Deletion Likely pathogenic 866239 GRCh37: 6:42666168-42666171
GRCh38: 6:42698430-42698433
45 BEST1 NM_004183.4(BEST1):c.172C>G (p.Gln58Glu) SNV Likely pathogenic 802679 rs1591280478 GRCh37: 11:61722598-61722598
GRCh38: 11:61955126-61955126
46 BEST1 NM_004183.4(BEST1):c.218T>A (p.Ile73Asn) SNV Likely pathogenic 812229 rs1591280714 GRCh37: 11:61722644-61722644
GRCh38: 11:61955172-61955172
47 BEST1 NM_004183.4(BEST1):c.874G>C (p.Glu292Gln) SNV Likely pathogenic 544678 rs886039311 GRCh37: 11:61726976-61726976
GRCh38: 11:61959504-61959504
48 BEST1 NM_004183.4(BEST1):c.241G>A (p.Val81Met) SNV Likely pathogenic 548451 rs1555098634 GRCh37: 11:61722667-61722667
GRCh38: 11:61955195-61955195
49 BEST1 NM_004183.4(BEST1):c.535A>G (p.Asn179Asp) SNV Likely pathogenic 438484 rs1555099968 GRCh37: 11:61724369-61724369
GRCh38: 11:61956897-61956897
50 BEST1 NM_004183.4(BEST1):c.26T>G (p.Val9Gly) SNV Likely pathogenic 438579 rs281865205 GRCh37: 11:61719304-61719304
GRCh38: 11:61951832-61951832

UniProtKB/Swiss-Prot genetic disease variations for Macular Dystrophy, Vitelliform, 2:

72 (show top 50) (show all 92)
# Symbol AA change Variation ID SNP ID
1 BEST1 p.Thr6Pro VAR_000830 rs28940275
2 BEST1 p.Val9Ala VAR_000831 rs281865205
3 BEST1 p.Val9Met VAR_000832 rs28940276
4 BEST1 p.Ala10Thr VAR_000833 rs281865206
5 BEST1 p.Leu21Val VAR_000834 rs281865212
6 BEST1 p.Trp24Cys VAR_000835 rs281865213
7 BEST1 p.Arg25Gln VAR_000836 rs281865215
8 BEST1 p.Arg25Trp VAR_000837 rs281865214
9 BEST1 p.Ser27Arg VAR_000838 rs281865216
10 BEST1 p.Gln58Leu VAR_000839 rs281865529
11 BEST1 p.Tyr85His VAR_000841 rs28940274
12 BEST1 p.Arg92Ser VAR_000842 rs281865224
13 BEST1 p.Trp93Cys VAR_000843 rs28940273
14 BEST1 p.Asn99Lys VAR_000844 rs281865227
15 BEST1 p.Leu100Arg VAR_000845 rs281865228
16 BEST1 p.Asp104Glu VAR_000846 rs281865232
17 BEST1 p.Arg141His VAR_000847 rs121918284
18 BEST1 p.Ser209Asn VAR_000848 rs281865237
19 BEST1 p.Arg218Cys VAR_000849 rs281865238
20 BEST1 p.Arg218Gln VAR_000850
21 BEST1 p.Arg218Ser VAR_000851 rs281865238
22 BEST1 p.Leu224Met VAR_000852 rs281865242
23 BEST1 p.Tyr227Asn VAR_000854 rs28941469
24 BEST1 p.Ser231Arg VAR_000855 rs281865244
25 BEST1 p.Val235Met VAR_000856 rs281865245
26 BEST1 p.Thr237Arg VAR_000857 rs281865246
27 BEST1 p.Ala243Val VAR_000858 rs28940570
28 BEST1 p.Pro297Ala VAR_000860 rs1805143
29 BEST1 p.Gly299Glu VAR_000861 rs28941468
30 BEST1 p.Glu300Lys VAR_000862 rs281865258
31 BEST1 p.Asp301Glu VAR_000863 rs281865261
32 BEST1 p.Asp301Asn VAR_000864 rs281865259
33 BEST1 p.Phe305Ser VAR_000865 rs281865265
34 BEST1 p.Ile310Thr VAR_000866 rs281865271
35 BEST1 p.Val311Gly VAR_000867
36 BEST1 p.Asp312Asn VAR_000868 rs281865277
37 BEST1 p.Ala10Val VAR_010468 rs281865207
38 BEST1 p.Arg13His VAR_010469 rs281865209
39 BEST1 p.Ser16Phe VAR_010470 rs281865210
40 BEST1 p.Phe17Cys VAR_010471 rs281865211
41 BEST1 p.Ile73Asn VAR_010472
42 BEST1 p.Leu82Val VAR_010473 rs281865530
43 BEST1 p.Arg92Cys VAR_010474 rs281865224
44 BEST1 p.Arg92His VAR_010475 rs281865225
45 BEST1 p.Gln96His VAR_010476 rs281865226
46 BEST1 p.Gly135Ser VAR_010478 rs281865234
47 BEST1 p.Ala146Lys VAR_010479 rs1800995
48 BEST1 p.Arg218His VAR_010481 rs281865239
49 BEST1 p.Val235Leu VAR_010482 rs281865245
50 BEST1 p.Gln293Lys VAR_010483 rs281865250

Expression for Macular Dystrophy, Vitelliform, 2

Search GEO for disease gene expression data for Macular Dystrophy, Vitelliform, 2.

Pathways for Macular Dystrophy, Vitelliform, 2

GO Terms for Macular Dystrophy, Vitelliform, 2

Cellular components related to Macular Dystrophy, Vitelliform, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.43 PRPH2 IMPG2 IMPG1
2 extracellular matrix GO:0031012 9.32 IMPG2 IMPG1
3 photoreceptor outer segment GO:0001750 9.16 PRPH2 IMPG1
4 photoreceptor inner segment GO:0001917 8.96 PRPH2 IMPG1
5 interphotoreceptor matrix GO:0033165 8.62 IMPG2 IMPG1

Biological processes related to Macular Dystrophy, Vitelliform, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 detection of light stimulus involved in visual perception GO:0050908 8.96 PRPH2 BEST1
2 visual perception GO:0007601 8.92 PRPH2 IMPG2 IMPG1 BEST1

Molecular functions related to Macular Dystrophy, Vitelliform, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.16 IMPG2 IMPG1
2 extracellular matrix structural constituent GO:0005201 8.96 IMPG2 IMPG1
3 hyaluronic acid binding GO:0005540 8.62 IMPG2 IMPG1

Sources for Macular Dystrophy, Vitelliform, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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