BMD
MCID: VTL001
MIFTS: 66

Vitelliform Macular Dystrophy (BMD) malady

Eye diseases, Ear diseases categories

Summaries for Vitelliform Macular Dystrophy

About this section
Sources:
21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Genetics Home Reference:21 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.

MalaCards: Vitelliform Macular Dystrophy, also known as best macular dystrophy, is related to retinal degeneration and best vitelliform macular dystrophy. An important gene associated with Vitelliform Macular Dystrophy is BEST1 (bestrophin 1), and among its related pathways are eicosapentaenoate biosynthesis II (metazoa) and alpha-linolenic (omega3) and linoleic (omega6) acid metabolism. The drugs interferon alfa-2a and interferon alfa-2b and the compounds alpha-linolenic acid and gamma-linolenic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and smooth muscle, and related mouse phenotypes are pigmentation and vision/eye.

Wikipedia:63 Vitelliform macular dystrophy or vitelliform dystrophy is a genetic eye disorder that can cause... more...

Description from OMIM:46 153700,608161

Aliases & Classifications for Vitelliform Macular Dystrophy

About this section
Sources:
8Disease Ontology, 9diseasecard, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases, Ear diseases


Characteristics (Orphanet epidemiological data):

48
best macular dystrophy:
Inheritance: Autosomal dominant; Age of onset: Variable; Age of death: Normal
adult-onset foveomacular dystrophy with choroidal neovascularization:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

vitelliform macular dystrophy 8 21 10 60
best macular dystrophy 8 9 46 48
juvenile-onset vitelliform macular dystrophy 8 48 60
macular dystrophy, vitelliform 46 44
best disease 8 48
adult-onset foveomacular dystrophy with choroidal neovascularization 48
adult-onset foveomacular vitelliform dystrophy 48
polymorphic vitelline macular degeneration 48
early-onset vitelliform macular dystrophy 48
adult-onset vitelliform macular dystrophy 48
pseudo-vitelliform macular dystrophy 48
vitelliform macular dystrophy type 2 48
best vitelliform macular dystrophy 48
adult-onset foveomacular dystrophy 48
age related macular degeneration 60
vitelliform dystrophy 21
pseudo-best disease 48
gass disease 48
aofmd 48
bvmd 48
avmd 48
bmd 48


External Ids:

Disease Ontology8 DOID:0050661
ICD10 via Orphanet26 H35.5
SNOMED-CT via Orphanet57 232049001

Related Diseases for Vitelliform Macular Dystrophy

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Vitelliform Macular Dystrophy family:

Adult-Onset Vitelliform Macular Dystrophy Prph2-Related Adult-Onset Vitelliform Macular Dystrophy

Diseases related to Vitelliform Macular Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 127)
idRelated DiseaseScoreTop Affiliating Genes
1retinal degeneration31.7BEST1, ROM1, ABCA4, PRPH2
2best vitelliform macular dystrophy31.7BEST1
3adult-onset vitelliform macular dystrophy31.2PRPH2, BEST1
4scotoma31.0ABCA4
5fundus dystrophy30.7BEST1, ABCA4, ROM1
6peripheral retinal degeneration30.3ROM1
7retinal disease29.8BEST1, ROM1, PRPH2, ABCA4
8stargardt disease10.8
9choroiditis10.7
10cataract10.7
11diabetic retinopathy10.7
12age-related macular degeneration 110.6
13retinitis10.6
14diabetic macular edema10.6
15atherosclerosis10.6
16refractive error10.5
17age-related macular degeneration 210.5
18age-related macular degeneration 810.5
19age related macular degeneration10.5
20macular dystrophy, atypical vitelliform10.5
21retinal drusen10.4
22retinitis pigmentosa10.4
23kuhnt-junius degeneration10.4
24pneumonia10.4
25age-related macular degeneration 310.4
26age-related macular degeneration 410.4
27age-related macular degeneration 510.4
28age-related macular degeneration 610.4
29age-related macular degeneration 710.4
30age-related macular degeneration 910.4
31becker muscular dystrophy10.4
32osteoporosis10.4
33macular holes10.4
34prph2-related adult-onset vitelliform macular dystrophy10.4
35cutis laxa10.4
36alzheimer's disease10.4
37vitreous detachment10.4
38complement deficiency10.4
39hepatitis10.4
40myopia10.4
41bone fracture10.3
42muscular dystrophy10.3
43osteoporotic fracture10.3
44cystoid macular edema10.3
45kearns-sayre syndrome10.3
46adult syndrome10.3
47glaucoma10.3
48retinal detachment10.3
49vitiligo-associated multiple autoimmune disease susceptiblity 610.3
50coronary artery disease10.2

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



Diseases related to vitelliform macular dystrophy

Clinical Features for Vitelliform Macular Dystrophy

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

153700,608161

Clinical synopsis from OMIM:

153700

Drugs & Therapeutics for Vitelliform Macular Dystrophy

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Vitelliform Macular Dystrophy

Drug clinical trials:

Search ClinicalTrials for Vitelliform Macular Dystrophy

Search NIH Clinical Center for Vitelliform Macular Dystrophy

Search CenterWatch for Vitelliform Macular Dystrophy

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Vitelliform Macular Dystrophy

About this section

Anatomical Context for Vitelliform Macular Dystrophy

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Vitelliform Macular Dystrophy:

32
Eye, Retina, Smooth muscle

Animal Models for Vitelliform Macular Dystrophy or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Vitelliform Macular Dystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.5BEST1, ABCA4, MITF, PRPH2
2MP:00053918.0BEST1, DDB1, PRPH2, MITF, ABCA4, ROM1

Publications for Vitelliform Macular Dystrophy

About this section
Sources:
50PubMed
See all sources

Articles related to Vitelliform Macular Dystrophy:

(show top 50)    (show all 108)
idTitleAuthorsYear
1
Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy. (22084158)
2012
2
Functional and anatomic changes in bilateral choroidal neovascularization associated with vitelliform macular dystrophy after intravitreal bevacizumab. (22742532)
2012
3
Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications. (21320969)
2011
4
Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy. (21473666)
2011
5
Macular lesion resembling adult-onset vitelliform macular dystrophy in Kearns-Sayre syndrome with multiple mtDNA deletions. (20497429)
2010
6
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. (20057903)
2009
7
Clinical and molecular genetic analysis of Best vitelliform macular dystrophy. (19357557)
2009
8
Intravitreal ranibizumab (Lucentis) for choroidal neovascularization associated with vitelliform macular dystrophy. (18752521)
2008
9
Correlation of visual function impairment and optical coherence tomography findings in patients with adult-onset foveomacular vitelliform macular dystrophy. (18439561)
2008
10
Optical coherence tomography demonstration of Best's vitelliform macular dystrophy in a child. (18050818)
2007
11
Vitelliform macular dystrophy. (16877078)
2006
12
A novel mutation of the VMD2 gene in a Chinese family with best vitelliform macular dystrophy. (16865191)
2006
13
Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2. (16754206)
2006
14
Indocyanine green angiography abnormality of the periphery in vitelliform macular dystrophy. (16678528)
2006
15
Peripherin/RDS and VMD2 mutations in macular dystrophies with adult-onset vitelliform lesion. (16885924)
2006
16
The bestrophin mutation A243V, linked to adult-onset vitelliform macular dystrophy, impairs its chloride channel function. (17065513)
2006
17
Morphology and functional characteristics in adult vitelliform macular dystrophy. (15579992)
2004
18
Treatment of cystoid macular edema with oral acetazolamide in a patient with best vitelliform macular dystrophy. (15187682)
2004
19
Best's vitelliform macular dystrophy with pseudohypopyon: an optical coherence tomography study. (15126177)
2004
20
Macular translocation in adult-onset vitelliform macular dystrophy: a therapy to be recommended? (15138767)
2004
21
Detection of retinal dysfunction in vitelliform macular dystrophy using the multifocal ERG (MF-ERG). (12678279)
2003
22
Identification of novel VMD2 gene mutations in patients with Best vitelliform macular dystrophy. (11241846)
2001
23
Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene. (11449320)
2001
24
Blunt trauma in Best's vitelliform macular dystrophy. (11203180)
2000
25
VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies. (10737974)
2000
26
Photo essay: normal electro-oculogram in a patient with vitelliruptive macular dystrophy and multiple vitelliform cysts. (11030841)
2000
27
Ophthaproblem. Vitelliform macular dystrophy (Best's disease). (10587765)
1999
28
Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin gene. (10617923)
1999
29
Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). (9700209)
1998
30
A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1. (9445487)
1998
31
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. (9781049)
1998
32
Lack of evidence for genetic heterogeneity in Best vitelliform macular dystrophy. (9475108)
1998
33
Still no evidence for heterogeneity in Best's vitelliform macular dystrophy. (8818958)
1996
34
Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy. (8592326)
1995
35
A recombination event excludes the ROM1 locus from the Best's vitelliform macular dystrophy region. (7860071)
1995
36
Dark adaptation in patients with Best vitelliform macular dystrophy. (8060924)
1994
37
High-resolution meiotic and physical mapping of the best vitelliform macular dystrophy (VMD2) locus to pericentromeric chromosome 11. (7977378)
1994
38
Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1. (8279475)
1994
39
Monozygotic twin sisters with adult vitelliform macular dystrophy. (8352318)
1993
40
Various fundus manifestations in a Japanese family with Best's vitelliform macular dystrophy. (8145393)
1993
41
Adult vitelliform macular dystrophy. (2323472)
1990
42
Histopathologic findings in Best's vitelliform macular dystrophy. (3415551)
1988
43
Hereditary vitelliform macular dystrophy. (3768176)
1986
44
Best's vitelliform macular dystrophy. (3006423)
1986
45
Atypical vitelliform macular dystrophy in a 5-generation family. (6607743)
1984
46
Pseudohypopyon in Best's vitelliform macular dystrophy. (7091279)
1982
47
Vitelliform macular dystrophy and butterfly-shaped epithelial dystrophy: a continuum? (7066268)
1982
48
Vitelliform macular dystrophy. (293080)
1979
49
EOG in a large family with hereditary macular degeneration. (Best's vitelliform macular dystrophy) identification of gene carriers. (581134)
1978
50
Best's vitelliform macular dystrophy. (1110202)
1975

Genetic Variations for Vitelliform Macular Dystrophy

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Vitelliform Macular Dystrophy:

62 (show all 98)
id Symbol AA change Variation ID SNP ID
1BEST1p.Thr6ProVAR_000830rs28940275
2BEST1p.Thr6ProVAR_000830rs28940275
3BEST1p.Val9AlaVAR_000831
4BEST1p.Val9MetVAR_000832rs28940276
5BEST1p.Ala10ThrVAR_000833
6BEST1p.Leu21ValVAR_000834
7BEST1p.Trp24CysVAR_000835
8BEST1p.Arg25GlnVAR_000836
9BEST1p.Arg25TrpVAR_000837
10BEST1p.Ser27ArgVAR_000838
11BEST1p.Gln58LeuVAR_000839
12BEST1p.Tyr85HisVAR_000841rs28940274
13BEST1p.Arg92SerVAR_000842
14BEST1p.Trp93CysVAR_000843rs28940273
15BEST1p.Asn99LysVAR_000844
16BEST1p.Leu100ArgVAR_000845
17BEST1p.Asp104GluVAR_000846
18BEST1p.Arg141HisVAR_000847rs121918284
19BEST1p.Ser209AsnVAR_000848
20BEST1p.Arg218CysVAR_000849
21BEST1p.Arg218GlnVAR_000850
22BEST1p.Arg218SerVAR_000851
23BEST1p.Leu224MetVAR_000852
24BEST1p.Tyr227AsnVAR_000854rs28941469
25BEST1p.Ser231ArgVAR_000855
26BEST1p.Val235MetVAR_000856
27BEST1p.Thr237ArgVAR_000857
28BEST1p.Ala243ValVAR_000858rs28940570
29BEST1p.Ala243ValVAR_000858rs28940570
30BEST1p.Pro297AlaVAR_000860
31BEST1p.Gly299GluVAR_000861rs28941468
32BEST1p.Glu300LysVAR_000862
33BEST1p.Asp301GluVAR_000863
34BEST1p.Asp301AsnVAR_000864
35BEST1p.Phe305SerVAR_000865
36BEST1p.Ile310ThrVAR_000866
37BEST1p.Val311GlyVAR_000867
38BEST1p.Asp312AsnVAR_000868
39BEST1p.Ala10ValVAR_010468
40BEST1p.Arg13HisVAR_010469
41BEST1p.Ser16PheVAR_010470
42BEST1p.Phe17CysVAR_010471
43BEST1p.Ile73AsnVAR_010472
44BEST1p.Leu82ValVAR_010473
45BEST1p.Arg92CysVAR_010474
46BEST1p.Arg92HisVAR_010475
47BEST1p.Gln96HisVAR_010476
48BEST1p.Gly135SerVAR_010478
49BEST1p.Ala146LysVAR_010479rs1800995
50BEST1p.Arg218HisVAR_010481
51BEST1p.Val235LeuVAR_010482
52BEST1p.Gln293LysVAR_010483
53BEST1p.Asn296SerVAR_010484
54BEST1p.Pro297SerVAR_010485rs1805143
55BEST1p.Glu300AspVAR_010486rs1805144
56BEST1p.Thr307IleVAR_010487
57BEST1p.Thr6ArgVAR_017366
58BEST1p.Asn11IleVAR_017367
59BEST1p.Gly26ArgVAR_017368
60BEST1p.Tyr29HisVAR_017369
61BEST1p.Lys30ArgVAR_017370
62BEST1p.Leu41ProVAR_017371
63BEST1p.Arg47HisVAR_017372rs28940278
64BEST1p.Phe80LeuVAR_017373
65BEST1p.Val89AlaVAR_017374
66BEST1p.Thr91IleVAR_017375
67BEST1p.Pro101ThrVAR_017376
68BEST1p.Trp102ArgVAR_017377
69BEST1p.Asp104HisVAR_017378
70BEST1p.Asn133LysVAR_017379
71BEST1p.Leu140ArgVAR_017380
72BEST1p.Ala195ValVAR_017381rs200277476
73BEST1p.Phe113LeuVAR_025732
74BEST1p.Ile201ThrVAR_025733
75BEST1p.Leu207IleVAR_025734rs74653691
76BEST1p.Cys221TrpVAR_025735
77BEST1p.Leu224ProVAR_025737
78BEST1p.Thr241AsnVAR_025738
79BEST1p.Ala243ThrVAR_025739rs28940570
80BEST1p.Phe276LeuVAR_025741
81BEST1p.Leu294ValVAR_025742
82BEST1p.Ile295ThrVAR_025743
83BEST1p.Asn296HisVAR_025744
84BEST1p.Phe298SerVAR_025745
85BEST1p.Asp302GlyVAR_025746
86BEST1p.Asp302HisVAR_025747
87BEST1p.Asp302ValVAR_025748
88BEST1p.Asp303GluVAR_025749
89BEST1p.Glu306AspVAR_025750
90BEST1p.Glu306GlyVAR_025751
91BEST1p.Thr307AlaVAR_025752
92BEST1p.Asn308SerVAR_025753
93BEST1p.Ile3ThrVAR_058273
94BEST1p.Val242MetVAR_058277
95BEST1p.Gly299AlaVAR_058313
96PRPH2p.Ser212ThrVAR_006878
97PRPH2p.Val268IleVAR_006890
98PRPH2p.Gly305AspVAR_006892

Expression for genes affiliated with Vitelliform Macular Dystrophy

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Vitelliform Macular Dystrophy

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

Pathways for genes affiliated with Vitelliform Macular Dystrophy

About this section
Sources:
37NCBI BioSystems Database, 53Reactome
See all sources

Compounds for genes affiliated with Vitelliform Macular Dystrophy

About this section
Sources:
44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB
See all sources

Compounds related to Vitelliform Macular Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1alpha-linolenic acid44 11 2411.7FADS2, FADS1
2gamma-linolenic acid44 2410.6FADS2, FADS1
3chlorine44 2410.3BEST1, BEST2, BEST3, BEST4
4phospholipid449.2FEN1, FADS1, SCGB1A1, ABCA4
5lipid448.3FEN1, FADS1, SCGB1A1, MITF, GPT, ABCA4
6calcium44 49 11 2411.2FEN1, SCGB1A1, PRPH2, MITF, BEST4, BEST3

GO Terms for genes affiliated with Vitelliform Macular Dystrophy

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Vitelliform Macular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segment membraneGO:04262210.1ROM1, PRPH
2chloride channel complexGO:0347078.9BEST1, BEST2, BEST3, BEST4

Biological processes related to Vitelliform Macular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1unsaturated fatty acid biosynthetic processGO:0066369.7FADS1, FADS2
2linoleic acid metabolic processGO:0436519.7FADS2, FADS1
3unsaturated fatty acid metabolic processGO:0335599.6FADS2, FADS1
4visual perceptionGO:0076019.5BEST1, ROM1, ABCA4, IMPG1, PRPH2
5alpha-linolenic acid metabolic processGO:0361099.4FADS2, FADS1

Molecular functions related to Vitelliform Macular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chloride channel activityGO:0052549.2BEST1, BEST2, BEST3, BEST4

Products for genes affiliated with Vitelliform Macular Dystrophy

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Vitelliform Macular Dystrophy

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet