MCID: VTL001
MIFTS: 55

Vitelliform Macular Dystrophy malady

Genetic diseases, Rare diseases, Eye diseases categories

Summaries for Vitelliform Macular Dystrophy

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Genetics Home Reference:23 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 based summary: Vitelliform Macular Dystrophy, also known as juvenile-onset vitelliform macular dystrophy, is related to best vitelliform macular dystrophy and macular dystrophy, vitelliform, 3. An important gene associated with Vitelliform Macular Dystrophy is BEST1 (bestrophin 1), and among its related pathways are stearate biosynthesis I (animals) and Fatty acid metabolism. The drugs interferon alfa-2a and interferon alfa-2b and the compounds glycogen and Pyridoxal 5'-phosphate have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and smooth muscle, and related mouse phenotype vision/eye.

Disease Ontology:10 A macular degeneration that can cause progressive vision loss, it is characterized by the disruption of cells in a small area near the center of the retina, the macula.

Wikipedia:65 Vitelliform macular dystrophy or vitelliform dystrophy is a genetic eye disorder that can cause... more...

Aliases & Classifications for Vitelliform Macular Dystrophy

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Vitelliform Macular Dystrophy, Aliases & Descriptions:

Name: Vitelliform Macular Dystrophy 10 23 12 62
Juvenile-Onset Vitelliform Macular Dystrophy 10 62
Best Macular Dystrophy 10 11
Vitelliform Dystrophy 23 24
Macular Degeneration, Polymorphic Vitelline 62
Vitelliform Macular Dystrophy, Early-Onset 62
Adult-Onset Vitelliform Macular Dystrophy 62
Vitelliform Macular Dystrophy Type 2 62
 
Foveomacular Dystrophy, Adult-Onset 62
Best Vitelliform Macular Dystrophy 62
Age Related Macular Degeneration 62
Macular Dystrophy, Vitelliform 45
Best Disease 10
Aofmd 62
Avmd 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases


External Ids:

Disease Ontology10 DOID:0050661

Related Diseases for Vitelliform Macular Dystrophy

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



Diseases related to vitelliform macular dystrophy

Symptoms for Vitelliform Macular Dystrophy

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Drugs & Therapeutics for Vitelliform Macular Dystrophy

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Genetic Tests for Vitelliform Macular Dystrophy

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Genetic tests related to Vitelliform Macular Dystrophy:

id Genetic test Affiliating Genes
1 Vitelliform Dystrophy24

Anatomical Context for Vitelliform Macular Dystrophy

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MalaCards organs/tissues related to Vitelliform Macular Dystrophy:

33
Retina, Eye, Smooth muscle

Animal Models for Vitelliform Macular Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Vitelliform Macular Dystrophy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.7ROM1, BEST1, BEST2, PRPH2, DDB1

Publications for Vitelliform Macular Dystrophy

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Articles related to Vitelliform Macular Dystrophy:

(show top 50)    (show all 115)
idTitleAuthorsYear
1
Long-Term Results of Photodynamic Therapy for Choroidal Neovascularization in Pediatric Patients with Best Vitelliform Macular Dystrophy. (25675349)
2015
2
Bilateral choroidal excavation in best vitelliform macular dystrophy. (24512759)
2014
3
Quantitative fundus autofluorescence and optical coherence tomography in best vitelliform macular dystrophy. (24526438)
2014
4
Multimodal analysis of the progression of Best vitelliform macular dystrophy. (24791142)
2014
5
Outer retinal structure in best vitelliform macular dystrophy. (23765342)
2013
6
BEST1 sequence variants in Italian patients with vitelliform macular dystrophy. (23213274)
2012
7
Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark. (22633354)
2012
8
Heavy silicone oil effective in macular hole surgery associated with adult vitelliform macular dystrophy. (21631684)
2012
9
Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients. (21273940)
2011
10
Intravitreal Ranibizumab for Choroidal Neovascularization in Best's Vitelliform Macular Dystrophy in a 6-Year-Old Boy. (21417187)
2011
11
Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy. (20381869)
2010
12
Macular lesion resembling adult-onset vitelliform macular dystrophy in Kearns-Sayre syndrome with multiple mtDNA deletions. (20497429)
2010
13
Novel and homozygous BEST1 mutations in Chinese patients with Best vitelliform macular dystrophy. (20057343)
2010
14
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. (20057903)
2009
15
Vitelliform macular dystrophy. (19621556)
2009
16
Exudative age-related macular degeneration or Best vitelliform macular dystrophy?--A case report. (18655458)
2008
17
Optical coherence tomography demonstration of Best's vitelliform macular dystrophy in a child. (18050818)
2007
18
New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy. (17287362)
2007
19
In vivo microscopy of Best's Vitelliform Macular Dystrophy: optical coherence tomography study of combined stage III and IV lesions. (17430522)
2007
20
Vitelliform macular dystrophy. (16877078)
2006
21
A novel mutation of the VMD2 gene in a Chinese family with best vitelliform macular dystrophy. (16865191)
2006
22
Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2. (16754206)
2006
23
Indocyanine green angiography abnormality of the periphery in vitelliform macular dystrophy. (16678528)
2006
24
Gene Symbol: VMD2. Disease: Best vitelliform macular dystrophy (VMD2). (15176385)
2004
25
Morphology and functional characteristics in adult vitelliform macular dystrophy. (15579992)
2004
26
A model of best vitelliform macular dystrophy in rats. (15452084)
2004
27
Detection of retinal dysfunction in vitelliform macular dystrophy using the multifocal ERG (MF-ERG). (12678279)
2003
28
The vitelliform macular dystrophy protein defines a new family of chloride channels. (11904445)
2002
29
Identification of novel VMD2 gene mutations in patients with Best vitelliform macular dystrophy. (11241846)
2001
30
Blunt trauma in Best's vitelliform macular dystrophy. (11203180)
2000
31
Ophthaproblem. Vitelliform macular dystrophy (Best's disease). (10587765)
1999
32
Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin gene. (10617923)
1999
33
Still no evidence for heterogeneity in Best's vitelliform macular dystrophy. (8818958)
1996
34
Observation of macular lesion in Best's vitelliform macular dystrophy by scanning laser ophthalmoscope. (8970872)
1995-1996
35
Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy. (8592326)
1995
36
A recombination event excludes the ROM1 locus from the Best's vitelliform macular dystrophy region. (7860071)
1995
37
Dark adaptation in patients with Best vitelliform macular dystrophy. (8060924)
1994
38
High-resolution meiotic and physical mapping of the best vitelliform macular dystrophy (VMD2) locus to pericentromeric chromosome 11. (7977378)
1994
39
Vitelliform macular dystrophy: a cause of macular holes with retinal detachments. (7821484)
1994
40
Monozygotic twin sisters with adult vitelliform macular dystrophy. (8352318)
1993
41
Visual acuity in patients with best vitelliform macular dystrophy. (8233392)
1993
42
Various fundus manifestations in a Japanese family with Best's vitelliform macular dystrophy. (8145393)
1993
43
Best Vitelliform Macular Dystrophy (20301346)
1993
44
Hereditary vitelliform macular dystrophy. (3768176)
1986
45
Linkage of atypical vitelliform macular dystrophy (VMD-1) to the soluble glutamate pyruvate transaminase (GPT1) locus. (6823974)
1983
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 of late onset. (7317335)
1981
49
Choroidal neovascular membrane in Best's vitelliform macular dystrophy. (949077)
1976
50
A family with vitelliform macular dystrophy. Best's disease. (4479519)
1974

Variations for Vitelliform Macular Dystrophy

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Clinvar genetic disease variations for Vitelliform Macular Dystrophy:

7
id Gene Variation Type Significance SNP ID Assembly Location
1BEST1NM_004183.3(BEST1): c.87C> G (p.Tyr29Ter)single nucleotide variantPathogenicrs121918285GRCh37Chr 11, 61719365: 61719365
2BEST1NM_004183.3(BEST1): c.16A> C (p.Thr6Pro)single nucleotide variantPathogenicrs28940275GRCh37Chr 11, 61719294: 61719294
3BEST1NM_004183.3(BEST1): c.883_885delATC (p.Ile295del)deletionPathogenicrs121918283GRCh37Chr 11, 61726985: 61726987

Expression for genes affiliated with Vitelliform Macular Dystrophy

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

Pathways for genes affiliated with Vitelliform Macular Dystrophy

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
fatty acid beta-oxidation I38
eicosapentaenoate biosynthesis II (metazoa)38
gamma-linolenate biosynthesis II (animals)38
fatty acid activation38
9.4FADS1, FADS2
2
Show member pathways
mitochondrial L-carnitine shuttle pathway38
Saturated fatty acid biosynthesis60
9.4FADS1, FADS2
3
Show member pathways
9.4FADS1, FADS2
4
Show member pathways
oleate biosynthesis II (animals)38
9.4FADS1, FADS2
5
Show member pathways
8.8BEST1, BEST2, BEST3, BEST4
6
Show member pathways
8.8BEST4, BEST3, BEST2, BEST1

Compounds for genes affiliated with Vitelliform Macular Dystrophy

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Sources:
45Novoseek, 26HMDB, 30IUPHAR, 13DrugBank, 51PharmGKB
See all sources

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

idCompoundScoreTop Affiliating Genes
1glycogen45 2610.6ROM1, GPT, PYGM
2Pyridoxal 5'-phosphate269.5GPT, PYGM
3gamma-linolenic acid45 2610.4FADS1, FADS2
4alpha-linolenic acid45 30 26 1312.4FADS1, FADS2
5Hydrogen carbonate269.0BEST1, BEST2, BEST3, BEST4
6chlorine45 2610.0BEST4, BEST3, BEST2, BEST1
7phospholipid458.9SCGB1A1, FEN1, FADS1
8calcium45 51 26 1311.0SCGB1A1, FEN1, PRPH2, BEST4, BEST3, BEST2

GO Terms for genes affiliated with Vitelliform Macular Dystrophy

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

idNameGO IDScoreTop Affiliating Genes
1chloride channel complexGO:00347078.8BEST1, BEST2, BEST3, BEST4

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

idNameGO IDScoreTop Affiliating Genes
1chloride transmembrane transportGO:019024769.8BEST1, BEST2
2unsaturated fatty acid biosynthetic processGO:00066369.5FADS1, FADS2
3unsaturated fatty acid metabolic processGO:00335599.4FADS1, FADS2
4visual perceptionGO:00076019.4ROM1, BEST1, PRPH2
5alpha-linolenic acid metabolic processGO:00361099.4FADS1, FADS2
6linoleic acid metabolic processGO:00436519.3FADS2, FADS1

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

idNameGO IDScoreTop Affiliating Genes
1pyridoxal phosphate bindingGO:00301709.8GPT, PYGM
2damaged DNA bindingGO:00036849.3FEN1, DDB1
3chloride channel activityGO:00052548.7BEST1, BEST2, BEST3, BEST4

Products for genes affiliated with Vitelliform Macular Dystrophy

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Sources for Vitelliform Macular Dystrophy

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet