VMD2
MCID: MCL066
MIFTS: 42

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 56 73
Best Macular Dystrophy 56 58 73 13
Juvenile-Onset Vitelliform Macular Dystrophy 58 73 71
Vitelliform Macular Dystrophy Type 2 58 29 6
Bmd 56 58 73
Best Vitelliform Macular Dystrophy, Multifocal 56 73
Macular Degeneration, Polymorphic Vitelline 56 73
Early-Onset Vitelliform Macular Dystrophy 58 73
Best Vitelliform Macular Dystrophy 58 73
Best Disease 58 73
Vmd2 56 73
Vitelliform Macular Dystrophy, Juvenile-Onset 56
Vitelliform Macular Dystrophy, Early-Onset 56
Polymorphic Vitelline Macular Degeneration 58
Dystrophy, Macular, Vitelliform, Type 2 39
Vitelliform Macular Dystrophy 71
Best Macular Dystrophy; Bmd 56
Best's Macular Dystrophy 73
Bvmd 58
Vmd 73

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:

56
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 56 153700
OMIM Phenotypic Series 56 PS153840
MeSH 43 D057826
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 72 C0339510 C2745945
Orphanet 58 ORPHA1243
UMLS 71 C0339510 C2745945

Summaries for Macular Dystrophy, Vitelliform, 2

OMIM : 56 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)

MalaCards based summary : Macular Dystrophy, Vitelliform, 2, also known as best macular dystrophy, is related to muscular dystrophy, becker type and osteoporosis. 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, retina and testes, and related phenotypes are visual impairment and cystoid macular degeneration

UniProtKB/Swiss-Prot : 73 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 181)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, becker type 12.4
2 osteoporosis 11.9
3 dystrophinopathies 11.8
4 muscular dystrophy, duchenne type 11.7
5 vitelliform macular dystrophy 11.7
6 best vitelliform macular dystrophy 11.7
7 macular dystrophy, vitelliform, 1 11.5
8 trichodentoosseous syndrome 11.4
9 macular dystrophy, vitelliform, 4 11.2
10 macular dystrophy, vitelliform, 5 11.2
11 bone mineral density quantitative trait locus 8 10.9
12 bone mineral density quantitative trait locus 15 10.9
13 muscular dystrophy 10.7
14 bone resorption disease 10.6
15 macular degeneration, age-related, 1 10.6
16 bone mineral density quantitative trait locus 3 10.6
17 scotoma 10.4
18 myeloma, multiple 10.4
19 bone disease 10.4
20 macular dystrophy, vitelliform, 3 10.3
21 body mass index quantitative trait locus 1 10.3
22 vitreoretinochoroidopathy 10.2
23 microphthalmia 10.2
24 retinal degeneration 10.2
25 fundus dystrophy 10.2
26 inherited retinal disorder 10.2
27 sclerosteosis 10.2
28 chorioretinal scar 10.2
29 acute closed-angle glaucoma 10.2
30 retinal vascular disease 10.2
31 macular retinal edema 10.2
32 refractive error 10.2
33 myofibromatosis, infantile, 1 10.2
34 meester-loeys syndrome 10.2
35 retinitis pigmentosa 10.2
36 neuroretinitis 10.2
37 retinitis 10.2
38 anorexia nervosa 10.2
39 brittle bone disorder 10.1
40 thalassemia 10.1
41 hyperparathyroidism 10.1
42 hypogonadism 10.1
43 mood disorder 10.1
44 osteoarthritis 10.1
45 muscular dystrophy, duchenne and becker type 10.1
46 47,xyy 10.1
47 yemenite deaf-blind hypopigmentation syndrome 10.1
48 leber congenital amaurosis 3 10.1
49 bestrophinopathy, autosomal recessive 10.1
50 microvascular complications of diabetes 5 10.1

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 visual impairment 58 31 Very frequent (99-80%) HP:0000505
2 cystoid macular degeneration 58 31 Very frequent (99-80%) HP:0008028
3 abnormal electroretinogram 31 HP:0000512
4 reduced visual acuity 31 HP:0007663
5 choroideremia 58 Occasional (29-5%)
6 color vision defect 58 Frequent (79-30%)
7 visual field defect 58 Occasional (29-5%)
8 macular dystrophy 31 HP:0007754
9 metamorphopsia 58 Very frequent (99-80%)
10 subretinal fluid 31 HP:0031526

Symptoms via clinical synopsis from OMIM:

56
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

Drugs & Therapeutics for Macular Dystrophy, Vitelliform, 2

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

(show all 21)
# 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
Methotrexate Approved Phase 2 59-05-2, 1959-05-2 126941
4
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
5
Ixazomib Approved, Investigational Phase 2 1072833-77-2
6
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
7
Melphalan Approved Phase 2 148-82-3 460612 4053
8
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
9
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
10 Angiogenesis Inhibitors Phase 1, Phase 2
11 Citrate Phase 2
12 Phosphodiesterase Inhibitors Phase 2
13 Phosphodiesterase 5 Inhibitors Phase 2
14 Vasodilator Agents Phase 2
15 Sildenafil Citrate Phase 2 171599-83-0
16 Imatinib Mesylate Phase 2 220127-57-1 123596
17
protease inhibitors Phase 2
18 Immunosuppressive Agents Phase 2
19 Alkylating Agents Phase 2
20 HIV Protease Inhibitors Phase 2
21 Immunologic Factors Phase 2

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 A Phase 2 Study for Older Adults With Acute Lymphoblastic Leukaemia Active, not recruiting NCT01616238 Phase 2 Chemotherapy
4 Multicenter Phase II, Double-blind Placebo Controlled Trial of Maintenance Ixazomib After Allogeneic Hematopoietic Stem Cell Transplantation for High Risk Multiple Myeloma (BMT CTN #1302) Active, not recruiting NCT02440464 Phase 2 Fludarabine;Melphalan;Bortezomib;Ixazomib;Placebo
5 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
6 Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Participants With Eye Diseases and From Somatic Cells of Matched Controls Recruiting NCT01432847
7 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, Testes

Publications for Macular Dystrophy, Vitelliform, 2

Articles related to Macular Dystrophy, Vitelliform, 2:

(show top 50) (show all 94)
# Title Authors PMID Year
1
Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2. 6 56 61
16754206 2006
2
Identification of the gene responsible for Best macular dystrophy. 56 6 61
9662395 1998
3
Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1. 56 6
21192766 2011
4
Clinical and genetic heterogeneity in multifocal vitelliform dystrophy. 6 56
17698758 2007
5
Late development of vitelliform lesions and flecks in a patient with best disease: clinicopathologic correlation. 6 56
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 56
10854112 2000
7
Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies. 6 56
10453731 1999
8
Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. 6 56
10331951 1999
9
Hereditary maculardegeneration (HMD) in 246 cases traced to one gene-source in central Sweden. 56 6
838599 1977
10
HEREDITARY VITELLINE MACULAR DEGENERATION. A CLINICAL AND FUNCTIONAL EVALUATION OF A NEW PEDIGREE WITH VARIABLE EXPRESSIVITY AND DOMINANT INHERITANCE. 6 56
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. 61 56
17460247 2007
13
Near-infrared fundus autofluorescence in subclinical best vitelliform macular dystrophy. 56
25174897 2014
14
Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes. 56
25085631 2014
15
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
16
OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations. 56
21077756 2011
17
Suppression of Ca2+ signaling in a mouse model of Best disease. 56
20053664 2010
18
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. 6
19853238 2009
19
Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease. 56
17591911 2007
20
Indocyanine green angiography abnormality of the periphery in vitelliform macular dystrophy. 56
16678528 2006
21
Optical coherence tomography in Best's disease: an observational case report. 56
15734003 2005
22
Best Vitelliform Macular Dystrophy 6
20301346 2003
23
Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium. 56
11050159 2000
24
VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies. 56
10737974 2000
25
Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). 6
9700209 1998
26
A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1. 56
9445487 1998
27
Refined genetic localization of the Best disease gene in 11q13 and physical mapping of linked markers on radiation hybrids. 56
9439653 1997
28
Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. 56
9338584 1997
29
Linkage study of Best's vitelliform macular dystrophy (VMD2) in a large North American family. 56
8807324 1996
30
Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy. 56
8592326 1995
31
Fine mapping of Best's macular dystrophy localizes the gene in close proximity to but distinct from the D11S480/ROM1 loci. 56
7713492 1994
32
Molecular evidence for non-penetrance in Best's disease. 56
8064817 1994
33
Best's vitelliform dystrophy (VMD2) maps between D11S903 and PYGM: no evidence for locus heterogeneity. 56
8020974 1994
34
Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1. 56
8279475 1994
35
The gene for Best's macular dystrophy is located at 11q13 in a Swedish family. 56
1395087 1992
36
Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. 56
1302019 1992
37
Adult vitelliform macular dystrophy. 56
2323472 1990
38
Histopathologic findings in Best's vitelliform macular dystrophy. 56
3415551 1988
39
Linkage studies of Best's macular dystrophy. 56
3165727 1988
40
De novo del(6)(q25) associated with macular degeneration. 56
3487275 1986
41
Dominantly inherited macular degeneration (Best's disease) in a homozygous father with 11 children. 56
7438501 1980
42
Hereditary vitelliform macular degeneration: variable fundus findings within a single pedigree. 56
869756 1977
43
Replication pattern of the X chromosomes in three X/autosomal translocations. 56
884969 1977
44
Vitelliform dystrophy in a 64-year-old man. 56
949078 1976
45
Electro-oculography in families with vitelliform dystrophy of the fovea. Detection of the carrier state. 56
5774285 1969
46
Vitelliform degeneration of the macula. 56
5239149 1968
47
Hereditary vitelliruptive macular degeneration. 56
5938308 1966
48
Dystrophy of the macula. 56
5904376 1966
49
Hereditary degeneration of the macula. II. Follow-up report and histopathologic study. 56
5859796 1965
50
Macular cysts; a dominantly inherited affection with a progressive course. 56
13315939 1956

Variations for Macular Dystrophy, Vitelliform, 2

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

6 (show top 50) (show all 106) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BEST1 NM_004183.4(BEST1):c.910G>A (p.Asp304Asn)SNV Pathogenic 496689 rs1554963095 11:61727012-61727012 11:61959540-61959540
2 BEST1 NM_004183.4(BEST1):c.888C>G (p.Asn296Lys)SNV Pathogenic 559498 rs1554963058 11:61726990-61726990 11:61959518-61959518
3 BEST1 NM_004183.4(BEST1):c.58C>G (p.Leu20Val)SNV Pathogenic 636000 11:61719336-61719336 11:61951864-61951864
4 BEST1 NM_004183.4(BEST1):c.904G>A (p.Asp302Asn)SNV Pathogenic 636001 11:61727006-61727006 11:61959534-61959534
5 BEST1 NM_004183.4(BEST1):c.905A>C (p.Asp302Ala)SNV Pathogenic 636002 11:61727007-61727007 11:61959535-61959535
6 BEST1 NM_004183.4(BEST1):c.294G>C (p.Glu98Asp)SNV Pathogenic 812230 11:61723236-61723236 11:61955764-61955764
7 BEST1 NM_004183.4(BEST1):c.404G>A (p.Gly135Asp)SNV Pathogenic 812231 11:61723346-61723346 11:61955874-61955874
8 BEST1 NM_004183.4(BEST1):c.908A>T (p.Asp303Val)SNV Pathogenic 812233 11:61727010-61727010 11:61959538-61959538
9 BEST1 NM_004183.4(BEST1):c.279G>C (p.Trp93Cys)SNV Pathogenic 2727 rs28940273 11:61723221-61723221 11:61955749-61955749
10 BEST1 NM_004183.4(BEST1):c.253T>C (p.Tyr85His)SNV Pathogenic 2728 rs28940274 11:61723195-61723195 11:61955723-61955723
11 BEST1 NM_004183.4(BEST1):c.896G>A (p.Gly299Glu)SNV Pathogenic 2729 rs28941468 11:61726998-61726998 11:61959526-61959526
12 BEST1 NM_004183.4(BEST1):c.87C>G (p.Tyr29Ter)SNV Pathogenic 2730 rs121918285 11:61719365-61719365 11:61951893-61951893
13 BEST1 NM_004183.4(BEST1):c.679T>A (p.Tyr227Asn)SNV Pathogenic 2731 rs28941469 11:61724901-61724901 11:61957429-61957429
14 BEST1 NM_004183.4(BEST1):c.16A>C (p.Thr6Pro)SNV Pathogenic 2732 rs28940275 11:61719294-61719294 11:61951822-61951822
15 BEST1 NM_004183.3(BEST1):c.884_886delTCA (p.Ile295del)short repeat Pathogenic 2733 rs121918283 11:61726983-61726985 11:61959511-61959513
16 BEST1 NM_004183.4(BEST1):c.25G>A (p.Val9Met)SNV Pathogenic 2734 rs28940276 11:61719303-61719303 11:61951831-61951831
17 BEST1 NM_004183.4(BEST1):c.355G>C (p.Glu119Gln)SNV Pathogenic 2735 rs1805142 11:61723297-61723297 11:61955825-61955825
18 BEST1 NM_004183.4(BEST1):c.436_437delinsAA (p.Ala146Lys)indel Pathogenic 2736 rs1800995 11:61723378-61723379 11:61955906-61955907
19 BEST1 NM_004183.4(BEST1):c.728C>T (p.Ala243Val)SNV Pathogenic 2737 rs28940570 11:61725631-61725631 11:61958159-61958159
20 BEST1 NM_004183.4(BEST1):c.1468_1469CA[1] (p.His490fs)short repeat Pathogenic 2739 rs281865528 11:61730094-61730095 11:61962622-61962623
21 BEST1 NM_004183.4(BEST1):c.29C>T (p.Ala10Val)SNV Pathogenic 99709 rs281865207 11:61719307-61719307 11:61951835-61951835
22 BEST1 NM_004183.4(BEST1):c.665G>T (p.Gly222Val)SNV Pathogenic 99739 rs281865241 11:61724887-61724887 11:61957415-61957415
23 BEST1 NM_004183.4(BEST1):c.74G>A (p.Arg25Gln)SNV Pathogenic 99752 rs281865215 11:61719352-61719352 11:61951880-61951880
24 BEST1 NM_004183.4(BEST1):c.889C>T (p.Pro297Ser)SNV Pathogenic 99766 rs1805143 11:61726991-61726991 11:61959519-61959519
25 BEST1 NM_004183.4(BEST1):c.172_173dup (p.Gln58fs)duplication Pathogenic 162042 rs672601356 11:61722596-61722597 11:61955124-61955125
26 BEST1 NM_004183.4(BEST1):c.887A>G (p.Asn296Ser)SNV Pathogenic/Likely pathogenic 99764 rs281865255 11:61726989-61726989 11:61959517-61959517
27 BEST1 NM_004183.4(BEST1):c.874G>A (p.Glu292Lys)SNV Pathogenic/Likely pathogenic 265047 rs886039311 11:61726976-61726976 11:61959504-61959504
28 BEST1 NM_004183.4(BEST1):c.652C>T (p.Arg218Cys)SNV Pathogenic/Likely pathogenic 99735 rs281865238 11:61724874-61724874 11:61957402-61957402
29 BEST1 NM_004183.4(BEST1):c.140G>A (p.Arg47His)SNV Pathogenic/Likely pathogenic 2738 rs28940278 11:61719418-61719418 11:61951946-61951946
30 BEST1 NM_004183.4(BEST1):c.936C>A (p.Asp312Glu)SNV Likely pathogenic 636003 11:61727038-61727038 11:61959566-61959566
31 BEST1 NM_004183.4(BEST1):c.172C>G (p.Gln58Glu)SNV Likely pathogenic 802679 11:61722598-61722598 11:61955126-61955126
32 BEST1 NM_004183.4(BEST1):c.218T>A (p.Ile73Asn)SNV Likely pathogenic 812229 11:61722644-61722644 11:61955172-61955172
33 BEST1 NM_004183.4(BEST1):c.287A>G (p.Gln96Arg)SNV Likely pathogenic 635998 11:61723229-61723229 11:61955757-61955757
34 BEST1 NM_004183.4(BEST1):c.295A>C (p.Asn99His)SNV Likely pathogenic 635999 11:61723237-61723237 11:61955765-61955765
35 BEST1 NM_004183.4(BEST1):c.535A>G (p.Asn179Asp)SNV Likely pathogenic 438484 rs1555099968 11:61724369-61724369 11:61956897-61956897
36 BEST1 NM_004183.4(BEST1):c.26T>G (p.Val9Gly)SNV Likely pathogenic 438579 rs281865205 11:61719304-61719304 11:61951832-61951832
37 BEST1 NM_004183.4(BEST1):c.915T>G (p.Phe305Leu)SNV Likely pathogenic 623155 rs1565036465 11:61727017-61727017 11:61959545-61959545
38 BEST1 NM_004183.4(BEST1):c.86A>G (p.Tyr29Cys)SNV Likely pathogenic 623293 rs1565382549 11:61719364-61719364 11:61951892-61951892
39 BEST1 NM_004183.4(BEST1):c.1415del (p.Leu472fs)deletion Likely pathogenic 632163 rs752125512 11:61730041-61730041 11:61962569-61962569
40 BEST1 NM_004183.4(BEST1):c.874G>C (p.Glu292Gln)SNV Likely pathogenic 544678 rs886039311 11:61726976-61726976 11:61959504-61959504
41 BEST1 NM_004183.4(BEST1):c.653G>A (p.Arg218His)SNV Likely pathogenic 99736 rs281865239 11:61724875-61724875 11:61957403-61957403
42 BEST1 NM_004183.4(BEST1):c.241G>A (p.Val81Met)SNV Likely pathogenic 548451 rs1555098634 11:61722667-61722667 11:61955195-61955195
43 BEST1 NM_004183.4(BEST1):c.680A>G (p.Tyr227Cys)SNV Likely pathogenic 2749 rs267606677 11:61724902-61724902 11:61957430-61957430
44 PRPH2 NM_000322.5(PRPH2):c.628C>T (p.Pro210Ser)SNV Likely pathogenic 98686 rs61755797 6:42672303-42672303 6:42704565-42704565
45 BEST1 NM_004183.4(BEST1):c.482-15C>TSNV Conflicting interpretations of pathogenicity 878549 11:61724301-61724301 11:61956829-61956829
46 BEST1 NM_004183.4(BEST1):c.422G>A (p.Arg141His)SNV Conflicting interpretations of pathogenicity 2740 rs121918284 11:61723364-61723364 11:61955892-61955892
47 BEST1 , FTH1 NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys)SNV Conflicting interpretations of pathogenicity 99684 rs147192139 11:61730295-61730295 11:61962823-61962823
48 BEST1 , FTH1 NM_004183.4(BEST1):c.1699C>T (p.Leu567Phe)SNV Conflicting interpretations of pathogenicity 99686 rs148060787 11:61730325-61730325 11:61962853-61962853
49 BEST1 NM_004183.4(BEST1):c.495G>A (p.Pro165=)SNV Conflicting interpretations of pathogenicity 289316 rs182941675 11:61724329-61724329 11:61956857-61956857
50 BEST1 NM_004183.4(BEST1):c.637-6C>TSNV Conflicting interpretations of pathogenicity 99732 rs62639356 11:61724853-61724853 11:61957381-61957381

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

73 (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

Sources for Macular Dystrophy, Vitelliform, 2

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