MCID: VTL001
MIFTS: 45

Vitelliform Macular Dystrophy

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

Aliases & Classifications for Vitelliform Macular Dystrophy

MalaCards integrated aliases for Vitelliform Macular Dystrophy:

Name: Vitelliform Macular Dystrophy 12 43 36 29 6 44 15 70
Juvenile-Onset Vitelliform Macular Dystrophy 12 70
Macular Dystrophy, Vitelliform 73 54
Best Disease 12 6
Dystrophy, Macular, Vitelliform 39
Best Macular Dystrophy 12
Vitelliform Dystrophy 43

Classifications:



External Ids:

Disease Ontology 12 DOID:0050661
KEGG 36 H00814
MeSH 44 D057826
ICD10 32 H35.5
UMLS 70 C0339510 C2745945

Summaries for Vitelliform Macular Dystrophy

MedlinePlus Genetics : 43 Vitelliform macular dystrophy is a genetic eye disorder that can cause progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, vitelliform macular dystrophy disrupts cells in a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces.Vitelliform macular dystrophy causes a fatty yellow pigment (lipofuscin) to build up in cells underlying the macula. Over time, the abnormal accumulation of this substance can damage cells that are critical for clear central vision. As a result, people with this disorder often lose their central vision, and their eyesight may become blurry or distorted. Vitelliform macular dystrophy typically does not affect side (peripheral) vision or the ability to see at night.Researchers have described two forms of vitelliform macular dystrophy with similar features. The early-onset form (known as Best disease) usually appears in childhood; the onset of symptoms and the severity of vision loss vary widely. The adult-onset form begins later, usually in mid-adulthood, and tends to cause vision loss that worsens slowly over time. The two forms of vitelliform macular dystrophy each have characteristic changes in the macula that can be detected during an eye examination.

MalaCards based summary : Vitelliform Macular Dystrophy, also known as juvenile-onset vitelliform macular dystrophy, is related to macular dystrophy, vitelliform, 2 and macular dystrophy, vitelliform, 3. An important gene associated with Vitelliform Macular Dystrophy is BEST1 (Bestrophin 1), and among its related pathways/superpathways is Ion channel transport. The drugs Ranibizumab and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and smooth muscle, and related phenotypes are vision/eye and pigmentation

Disease Ontology : 12 A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss.

KEGG : 36 Vitelliform macular dystrophy is characterized by autosomal dominant inheritance and autofluorescent deposits within and beneath the retinal pigment epithelium. The onset of Juvenile vitelliform macular dystrophy (VMD2) is less than 30 years of age in most cases, whereas the onset of Adult-onset vitelliform macular dystrophy (AVMD) is between 30 and 50 years accompanied by slowly progressive visual loss.

Wikipedia : 73 Vitelliform macular dystrophy, is an irregular autosomal dominant eye disorder which can cause... more...

Related Diseases for Vitelliform Macular Dystrophy

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 Vitelliform Macular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 105)
# Related Disease Score Top Affiliating Genes
1 macular dystrophy, vitelliform, 2 33.7 PRPH2 IMPG2 IMPG1 BEST1
2 macular dystrophy, vitelliform, 3 33.6 PRPH2 IMPG2 IMPG1 BEST1
3 bestrophinopathy, autosomal recessive 32.1 RPE65 PRPH2 IMPG2 IMPG1 BEST4 BEST3
4 vitreoretinochoroidopathy 31.8 RPE65 PRPH2 IMPG2 IMPG1 FTH1 BEST4
5 macular degeneration, age-related, 1 31.2 TIMP3 RPE65 ROM1 PRPH2 IMPG2 IMPG1
6 chorioretinal scar 30.7 IMPG2 BEST1 ABCA4
7 retinal disease 30.6 TIMP3 RPE65 ROM1 PRPH2 IMPG2 IMPG1
8 retinoschisis 1, x-linked, juvenile 30.6 RPE65 BEST1 ABCA4
9 stargardt disease 30.6 RPE65 ROM1 PRPH2 IMPG2 IMPG1 BEST1
10 retinal degeneration 30.6 TIMP3 RPE65 ROM1 PRPH2 BEST2 BEST1
11 retinitis 30.5 RPE65 ROM1 PRPH2 ABCA4
12 yemenite deaf-blind hypopigmentation syndrome 30.5 RPE65 ABCA4
13 eye disease 30.4 RPE65 ROM1 PRPH2 IMPG2 BEST1 ABCA4
14 fundus dystrophy 30.2 TIMP3 RPE65 ROM1 PRPH2 IMPG2 IMPG1
15 retinitis pigmentosa 30.2 TIMP3 RPE65 ROM1 PRPH2 IMPG2 IMPG1
16 pattern dystrophy 30.1 ROM1 PRPH2
17 macular dystrophy, vitelliform, 1 11.5
18 macular dystrophy, vitelliform, 4 11.4
19 macular dystrophy, vitelliform, 5 11.4
20 retinal detachment 10.6
21 viral esophagitis 10.4 BEST3 BEST2 BEST1
22 macular holes 10.4
23 stargardt macular degeneration 10.4 PRPH2 ABCA4
24 interval angle-closure glaucoma 10.4 BEST1 ABCA4
25 butterfly-shaped pigment dystrophy 10.4 ROM1 PRPH2
26 peripheral retinal degeneration 10.4 PRPH2 BEST1 ABCA4
27 partial central choroid dystrophy 10.4 ROM1 PRPH2 ABCA4
28 hereditary choroidal atrophy 10.4 ROM1 PRPH2 ABCA4
29 solar retinopathy 10.4 IMPG2 ABCA4
30 nonsyndromic retinitis pigmentosa 10.4 BEST1 ABCA4
31 occult macular dystrophy 10.4 PRPH2 IMPG2 ABCA4
32 macular degeneration, age-related, 6 10.4 BEST1 ABCA4
33 hemochromatosis, type 5 10.4 FTH1 BEST1
34 isolated macular dystrophy 10.4 PRPH2 IMPG1 BEST1 ABCA4
35 macular degeneration, age-related, 4 10.4 BEST1 ABCA4
36 macular dystrophy, dominant cystoid 10.4 RPE65 BEST1 ABCA4
37 basal laminar drusen 10.4 IMPG2 IMPG1 BEST1 ABCA4
38 retinal drusen 10.3 TIMP3 BEST1 ABCA4
39 stargardt disease 1 10.3 ROM1 PRPH2 BEST1 ABCA4
40 enhanced s-cone syndrome 10.3 RPE65 ROM1 IMPG2
41 doyne honeycomb retinal dystrophy 10.3 TIMP3 PRPH2 BEST1 ABCA4
42 red-green color blindness 10.3 RPE65 ABCA4
43 nanophthalmos 10.3 RPE65 ROM1 PRPH2 BEST1
44 choroid disease 10.3 RPE65 PRPH2 BEST1 ABCA4
45 microvascular complications of diabetes 5 10.3
46 scotoma 10.3
47 central serous chorioretinopathy 10.3
48 optic nerve hypoplasia, bilateral 10.3 RPE65 BEST1 ABCA4
49 choroideremia 10.3 RPE65 PRPH2 BEST1 ABCA4
50 retinitis pigmentosa 32 10.3 IMPG2 ABCA4

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



Diseases related to Vitelliform Macular Dystrophy

Symptoms & Phenotypes for Vitelliform Macular Dystrophy

MGI Mouse Phenotypes related to Vitelliform Macular Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.36 ABCA4 BEST1 BEST2 DDB1 FTH1 IMPG2
2 pigmentation MP:0001186 9.35 ABCA4 BEST1 PRPH2 RPE65 TIMP3

Drugs & Therapeutics for Vitelliform Macular Dystrophy

Drugs for Vitelliform Macular Dystrophy (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 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 Vitelliform Macular Dystrophy

Cochrane evidence based reviews: vitelliform macular dystrophy

Genetic Tests for Vitelliform Macular Dystrophy

Genetic tests related to Vitelliform Macular Dystrophy:

# Genetic test Affiliating Genes
1 Vitelliform Macular Dystrophy 29

Anatomical Context for Vitelliform Macular Dystrophy

MalaCards organs/tissues related to Vitelliform Macular Dystrophy:

40
Retina, Eye, Smooth Muscle, Kidney

Publications for Vitelliform Macular Dystrophy

Articles related to Vitelliform Macular Dystrophy:

(show top 50) (show all 351)
# Title Authors PMID Year
1
Clinical and genetic heterogeneity in multifocal vitelliform dystrophy. 6 54 61
17698758 2007
2
Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2. 61 6 54
16754206 2006
3
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. 61 6 54
10854112 2000
4
Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). 54 61 6
9700209 1998
5
Identification of the gene responsible for Best macular dystrophy. 61 6 54
9662395 1998
6
Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1. 6 61
24560797 2014
7
Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1. 6 61
21192766 2011
8
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. 61 6
19853238 2009
9
Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies. 61 6
10453731 1999
10
Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. 61 6
10331951 1999
11
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. 6
33546218 2021
12
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 6
30718709 2019
13
A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode. 6
21467170 2011
14
A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene. 6
18703557 2008
15
Biallelic mutation of BEST1 causes a distinct retinopathy in humans. 6
18179881 2008
16
Late development of vitelliform lesions and flecks in a patient with best disease: clinicopathologic correlation. 6
16286623 2005
17
Visual outcome following subretinal hemorrhage in Best disease. 6
11756879 2001
18
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. 6
10798642 2000
19
Hereditary maculardegeneration (HMD) in 246 cases traced to one gene-source in central Sweden. 6
838599 1977
20
HEREDITARY VITELLINE MACULAR DEGENERATION. A CLINICAL AND FUNCTIONAL EVALUATION OF A NEW PEDIGREE WITH VARIABLE EXPRESSIVITY AND DOMINANT INHERITANCE. 6
14205432 1964
21
Suppression of Ca2+ signaling in a mouse model of Best disease. 61 54
20053664 2010
22
Unexpected transcriptional activity of the human VMD2 promoter in retinal development. 54 61
20238019 2010
23
Dysregulation of human bestrophin-1 by ceramide-induced dephosphorylation. 61 54
19635817 2009
24
Human disease-causing mutations disrupt an N-C-terminal interaction and channel function of bestrophin 1. 61 54
19372599 2009
25
Age-related macular degeneration: a perspective on genetic studies. 54 61
17491602 2008
26
Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies. 54 61
18391176 2008
27
[Clinical manifestations and gene analysis in one Chinese family with Best vitelliform macular dystrophy]. 61 54
18844018 2008
28
Molecular evolution and functional divergence of the bestrophin protein family. 54 61
18307799 2008
29
Drosophila bestrophin-1 chloride current is dually regulated by calcium and cell volume. 54 61
17968025 2007
30
Chloride channel activity of bestrophin mutants associated with mild or late-onset macular degeneration. 54 61
17898294 2007
31
Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2). 54 61
17477921 2007
32
New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy. 61 54
17287362 2007
33
Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane. 61 54
17110374 2007
34
The bestrophin mutation A243V, linked to adult-onset vitelliform macular dystrophy, impairs its chloride channel function. 61 54
17065513 2006
35
Vitelliform macular dystrophy. 61 54
16877078 2006
36
A novel mutation of the VMD2 gene in a Chinese family with best vitelliform macular dystrophy. 54 61
16865191 2006
37
The bestrophin family of anion channels: identification of prokaryotic homologues. 61 54
16154901 2005
38
Nonviral ocular gene transfer. 54 61
15789063 2005
39
[VMD2 and its role in Best's disease and other retinopathies]. 61 54
15627199 2005
40
Volume sensitivity of the bestrophin family of chloride channels. 54 61
15564283 2005
41
Increased expression of VEGF in retinal pigmented epithelial cells is not sufficient to cause choroidal neovascularization. 61 54
15389527 2004
42
Cloning and characterization of the murine Vmd2 RFP-TM gene family. 61 54
15218265 2004
43
Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD). 54 61
14517959 2003
44
Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy. 61 54
12324875 2002
45
Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene. 54 61
11449320 2001
46
Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy. 54 61
11241846 2001
47
Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium. 61 54
11050159 2000
48
cDNA cloning and characterization of human Delta5-desaturase involved in the biosynthesis of arachidonic acid. 54 61
10769175 2000
49
VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies. 61 54
10737974 2000
50
Refined mapping of the gene encoding the p127 kDa UV-damaged DNA-binding protein (DDB1) within 11q12-q13.1 and its exclusion in Best's vitelliform macular dystrophy. 61 54
9781049 1998

Variations for Vitelliform Macular Dystrophy

ClinVar genetic disease variations for Vitelliform Macular Dystrophy:

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

Expression for Vitelliform Macular Dystrophy

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

Pathways for Vitelliform Macular Dystrophy

Pathways related to Vitelliform Macular Dystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.42 BEST4 BEST3 BEST2 BEST1

GO Terms for Vitelliform Macular Dystrophy

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

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 9.26 ROM1 PRPH2 IMPG1 ABCA4
2 interphotoreceptor matrix GO:0033165 9.16 IMPG2 IMPG1
3 chloride channel complex GO:0034707 8.92 BEST4 BEST3 BEST2 BEST1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.8 TIMP3 RPE65 ROM1 PRPH2 BEST1 ABCA4
2 chloride transmembrane transport GO:1902476 9.56 BEST4 BEST3 BEST2 BEST1
3 retina development in camera-type eye GO:0060041 9.54 RPE65 ROM1 PRPH2
4 linoleic acid metabolic process GO:0043651 9.51 FADS2 FADS1
5 unsaturated fatty acid biosynthetic process GO:0006636 9.49 FADS2 FADS1
6 alpha-linolenic acid metabolic process GO:0036109 9.48 FADS2 FADS1
7 photoreceptor cell outer segment organization GO:0035845 9.46 ROM1 PRPH2
8 chloride transport GO:0006821 9.46 BEST4 BEST3 BEST2 BEST1
9 retina morphogenesis in camera-type eye GO:0060042 9.43 RPE65 ROM1
10 protein heterooligomerization GO:0051291 9.4 ROM1 PRPH2
11 detection of light stimulus involved in visual perception GO:0050908 9.26 RPE65 ROM1 PRPH2 BEST1
12 visual perception GO:0007601 9.23 TIMP3 RPE65 ROM1 PRPH2 IMPG2 IMPG1

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

# Name GO ID Score Top Affiliating Genes
1 linoleoyl-CoA desaturase activity GO:0016213 8.96 FADS2 FADS1
2 chloride channel activity GO:0005254 8.92 BEST4 BEST3 BEST2 BEST1

Sources for Vitelliform Macular Dystrophy

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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