BMD
MCID: VTL001
MIFTS: 65

Vitelliform Macular Dystrophy (BMD) malady

Genetic diseases, Eye diseases, Rare diseases categories
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Summaries for Vitelliform Macular Dystrophy

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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 based summary: Vitelliform Macular Dystrophy, also known as best macular dystrophy, is related to best vitelliform macular dystrophy and adult-onset vitelliform macular dystrophy, and has symptoms including macular dystrophy/absence/hypoplasia of the macula, mild visual loss/impaired visual acuity and autosomal dominant inheritance. An important gene associated with Vitelliform Macular Dystrophy is BEST1 (bestrophin 1), and among its related pathways are Biosynthesis of unsaturated fatty acids and alpha-linolenic (omega3) and linoleic (omega6) acid metabolism. The drugs interferon alfa-2a and interferon alfa-2b and the compounds Pyridoxal 5'-phosphate and gamma-linolenic acid 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:8 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...

Descriptions from OMIM:46 153700,153840,608161

Aliases & Classifications for Vitelliform Macular Dystrophy

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Sources:
62UMLS, 8Disease Ontology, 21Genetics Home Reference, 10DISEASES, 9diseasecard, 46OMIM, 48Orphanet, 44Novoseek, 26ICD10 via Orphanet
See all sources

Vitelliform Macular Dystrophy, Aliases & Descriptions:

Name: Vitelliform Macular Dystrophy 8 21 10 62
Best Macular Dystrophy 8 9 46 48
Juvenile-Onset Vitelliform Macular Dystrophy 8 48 62
Adult-Onset Vitelliform Macular Dystrophy 48 62
Vitelliform Macular Dystrophy Type 2 48 62
Best Vitelliform Macular Dystrophy 48 62
Macular Dystrophy, Vitelliform 46 44
Best Disease 8 48
Aofmd 48 62
Avmd 48 62
Adult-Onset Foveomacular Dystrophy with Choroidal Neovascularization 48
Adult-Onset Foveomacular Vitelliform Dystrophy 48
Macular Degeneration, Polymorphic Vitelline 62
 
Vitelliform Macular Dystrophy, Early-Onset 62
Polymorphic Vitelline Macular Degeneration 48
Early-Onset Vitelliform Macular Dystrophy 48
Pseudo-Vitelliform Macular Dystrophy 48
Foveomacular Dystrophy, Adult-Onset 62
Adult-Onset Foveomacular Dystrophy 48
Age Related Macular Degeneration 62
Vitelliform Dystrophy 21
Pseudo-Best Disease 48
Gass Disease 48
Bvmd 48
Bmd 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 48 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

48
best macular dystrophy:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Normal
adult-onset vitelliform macular dystrophy:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Adulthood; Age of death: Normal


External Ids:

Disease Ontology8 DOID:0050661
ICD10 via Orphanet26 H35.5

Related Diseases for Vitelliform Macular Dystrophy

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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 56)
idRelated DiseaseScoreTop Affiliating Genes
1best vitelliform macular dystrophy32.5BEST1
2adult-onset vitelliform macular dystrophy31.9BEST1, PRPH2
3macular dystrophy11.3
4choroiditis10.8
5retinitis10.7
6age related macular degeneration10.6
7macular dystrophy, atypical vitelliform10.6
8becker muscular dystrophy10.5
9macular holes10.5
10prph2-related adult-onset vitelliform macular dystrophy10.5
11osteoporosis10.5
12muscular dystrophy10.4
13fundus flavimaculatus10.4ROM1
14peripheral retinal degeneration10.4ROM1
15bestrophinopathy10.3BEST1, BEST2
16kearns-sayre syndrome10.3
17cystoid macular edema10.3
18retinal detachment10.3
19central serous chorioretinopathy10.3
20osteoporotic fracture10.3
21anorexia nervosa10.2
22retinal degeneration10.1PRPH2, BEST1, ROM1
23bone fracture10.1
24duchenne muscular dystrophy10.1
25obesity10.1
26klinefelter's syndrome10.1
27growth hormone deficiency10.1
28fundus dystrophy10.1ROM1, BEST1
29acute kidney failure10.0GPT, PYGM
30alcoholic liver cirrhosis10.0
31ankylosing spondylitis10.0
32diabetes mellitus10.0
33gitelman syndrome10.0
34liver cirrhosis10.0
35osteoarthritis10.0
36osteochondrosis10.0
37type 2 diabetes mellitus10.0
38acromegaly10.0
39hypervitaminosis a10.0
40prader-willi syndrome10.0
41osteogenesis imperfecta10.0
42premature menopause10.0
43lactose intolerance10.0
44primary hyperparathyroidism10.0
45arthropathy10.0
46hyperparathyroidism10.0
47peritonitis10.0
48spondylitis10.0
49germ cell tumors10.0
50testicular germ cell tumor10.0

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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Symptoms by clinical synopsis from OMIM:

153700

Clinical features from OMIM:

153700,153840,608161

Symptoms:

48 (show all 10)
  • macular dystrophy/absence/hypoplasia of the macula
  • mild visual loss/impaired visual acuity
  • autosomal dominant inheritance
  • achromatopsia/dyschromatopsia/daltonism/impaired colour vision
  • choroidal anomalies/atrophy/choroideremia
  • abnormal visual field/hemianopsia/hemianopia/scotoma/visual peripheral rim
  • anomalies of eyes and vision
  • retinitis pigmentosa/retinal pigmentary changes
  • retinal detachment
  • visual loss/blindness/amblyopia

HPO human phenotypes related to Vitelliform Macular Dystrophy:

(show all 20)
id Description Frequency HPO Source Accession
1 visual impairment hallmark (90%) HP:0000505
2 abnormality of the macula hallmark (90%) HP:0001103
3 visual impairment hallmark (90%) HP:0000505
4 abnormality of the macula hallmark (90%) HP:0001103
5 abnormality of color vision typical (50%) HP:0000551
6 abnormality of color vision typical (50%) HP:0000551
7 visual field defect typical (50%) HP:0001123
8 choroideremia typical (50%) HP:0001139
9 abnormal retinal pigmentation typical (50%) HP:0007703
10 visual field defect occasional (7.5%) HP:0001123
11 choroideremia occasional (7.5%) HP:0001139
12 visual impairment occasional (7.5%) HP:0000505
13 retinal detachment occasional (7.5%) HP:0000541
14 autosomal dominant inheritance HP:0000006
15 visual impairment HP:0000505
16 abnormal electroretinogram HP:0000512
17 cystoid macular degeneration HP:0008028
18 autosomal dominant inheritance HP:0000006
19 visual impairment HP:0000505
20 vitelliform maculopathy HP:0007677

Drugs & Therapeutics for Vitelliform Macular Dystrophy

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Genetic Tests for Vitelliform Macular Dystrophy

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Anatomical Context for Vitelliform Macular Dystrophy

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MalaCards organs/tissues related to Vitelliform Macular Dystrophy:

32
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:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.8ROM1, 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
Bilateral choroidal excavation in best vitelliform macular dystrophy. (24512759)
2014
2
Multimodal analysis of the progression of Best vitelliform macular dystrophy. (24791142)
2014
3
Near-Infrared Fundus Autofluorescence in Subclinical Best Vitelliform Macular Dystrophy. (25174897)
2014
4
Outer retinal structure in best vitelliform macular dystrophy. (23765342)
2013
5
BEST1 sequence variants in Italian patients with vitelliform macular dystrophy. (23213274)
2012
6
Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark. (22633354)
2012
7
Heavy silicone oil effective in macular hole surgery associated with adult vitelliform macular dystrophy. (21631684)
2012
8
Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients. (21273940)
2011
9
Intravitreal Ranibizumab for Choroidal Neovascularization in Best's Vitelliform Macular Dystrophy in a 6-Year-Old Boy. (21417187)
2011
10
Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy. (20381869)
2010
11
Macular lesion resembling adult-onset vitelliform macular dystrophy in Kearns-Sayre syndrome with multiple mtDNA deletions. (20497429)
2010
12
Novel and homozygous BEST1 mutations in Chinese patients with Best vitelliform macular dystrophy. (20057343)
2010
13
Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1. (20375334)
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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UniProtKB/Swiss-Prot genetic disease variations for Vitelliform Macular Dystrophy:

64 (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

Clinvar genetic disease variations for Vitelliform Macular Dystrophy:

6 (show all 19)
id Gene Name Type Significance SNP ID Assembly Location
1PRPH2NM_000322.4(PRPH2): c.774C> A (p.Tyr258Ter)single nucleotide variantPathogenicrs121918564GRCh37Chr 6, 42672157: 42672157
2PRPH2NM_000322.4(PRPH2): c.629C> G (p.Pro210Arg)single nucleotide variantPathogenicrs61755798GRCh37Chr 6, 42672302: 42672302
3PRPH2NM_000322.4(PRPH2): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs121918565GRCh37Chr 6, 42690071: 42690071
4PRPH2NM_000322.4(PRPH2): c.947G> A (p.Trp316Ter)single nucleotide variantPathogenicrs121918566GRCh37Chr 6, 42666127: 42666127
5PRPH2PRPH2, 1-BP DEL, 112GdeletionPathogenic
6BEST1NM_004183.3(BEST1): c.279G> C (p.Trp93Cys)single nucleotide variantPathogenicrs28940273GRCh37Chr 11, 61723221: 61723221
7BEST1NM_004183.3(BEST1): c.253T> C (p.Tyr85His)single nucleotide variantPathogenicrs28940274GRCh37Chr 11, 61723195: 61723195
8BEST1NM_004183.3(BEST1): c.896G> A (p.Gly299Glu)single nucleotide variantPathogenicrs28941468GRCh37Chr 11, 61726998: 61726998
9BEST1NM_004183.3(BEST1): c.87C> G (p.Tyr29Ter)single nucleotide variantPathogenicrs121918285GRCh37Chr 11, 61719365: 61719365
10BEST1NM_004183.3(BEST1): c.679T> A (p.Tyr227Asn)single nucleotide variantPathogenicrs28941469GRCh37Chr 11, 61724901: 61724901
11BEST1NM_004183.3(BEST1): c.16A> C (p.Thr6Pro)single nucleotide variantPathogenicrs28940275GRCh37Chr 11, 61719294: 61719294
12BEST1NM_004183.3(BEST1): c.883_885delATC (p.Ile295del)deletionPathogenicrs121918283GRCh37Chr 11, 61726985: 61726987
13BEST1NM_004183.3(BEST1): c.25G> A (p.Val9Met)single nucleotide variantPathogenicrs28940276GRCh37Chr 11, 61719303: 61719303
14BEST1NM_004183.3(BEST1): c.436_437delGCinsAA (p.Ala146Lys)indelPathogenicrs1800995GRCh37Chr 11, 61723378: 61723379
15BEST1NM_004183.3(BEST1): c.728C> T (p.Ala243Val)single nucleotide variantPathogenicrs28940570GRCh37Chr 11, 61725631: 61725631
16BEST1NM_004183.3(BEST1): c.140G> A (p.Arg47His)single nucleotide variantPathogenicrs28940278GRCh37Chr 11, 61719418: 61719418
17BEST1BEST1, 2-BP DEL, 1574CAdeletionPathogenic
18BEST1NM_004183.3(BEST1): c.422G> A (p.Arg141His)single nucleotide variantPathogenicrs121918284GRCh37Chr 11, 61723364: 61723364
19BEST1NM_004183.3(BEST1): c.680A> G (p.Tyr227Cys)single nucleotide variantPathogenicrs267606677GRCh37Chr 11, 61724902: 61724902

Expression for genes affiliated with Vitelliform Macular Dystrophy

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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

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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
oleate biosynthesis II (animals)37
9.4FADS1, FADS2
2
Show member pathways
9.4FADS1, FADS2
3
Show member pathways
fatty acid beta-oxidation I37
eicosapentaenoate biosynthesis II (metazoa)37
gamma-linolenate biosynthesis II (animals)37
fatty acid activation37
9.4FADS1, FADS2
4
Show member pathways
8.9BEST4, BEST3, BEST2, BEST1
5
Show member pathways
8.9BEST1, BEST2, BEST3, BEST4

Compounds for genes affiliated with Vitelliform Macular Dystrophy

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Sources:
24HMDB, 44Novoseek, 28IUPHAR, 11DrugBank, 50PharmGKB
See all sources

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

idCompoundScoreTop Affiliating Genes
1Pyridoxal 5'-phosphate249.8GPT, PYGM
2gamma-linolenic acid44 2410.4FADS1, FADS2
3alpha-linolenic acid44 28 24 1112.3FADS2, FADS1
4Hydrogen carbonate249.0BEST1, BEST2, BEST3, BEST4
5chlorine44 2410.0BEST4, BEST3, BEST2, BEST1
6phospholipid448.7FADS1, FEN1, SCGB1A1
7calcium44 50 24 1111.0SCGB1A1, 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
1photoreceptor outer segment membraneGO:04262210.0ROM1, PRPH
2chloride channel complexGO:0347078.6BEST1, BEST2, BEST3, BEST4

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

idNameGO IDScoreTop Affiliating Genes
1chloride transmembrane transportGO:19024769.8BEST1, BEST2
2visual perceptionGO:0076019.6IMPG1, ROM1, BEST1, PRPH2
3unsaturated fatty acid biosynthetic processGO:0066369.4FADS1, FADS2
4alpha-linolenic acid metabolic processGO:0361099.4FADS2, FADS1
5unsaturated fatty acid metabolic processGO:0335599.3FADS2, FADS1
6linoleic acid metabolic processGO:0436519.1FADS1, FADS2

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

idNameGO IDScoreTop Affiliating Genes
1pyridoxal phosphate bindingGO:0301709.8GPT, PYGM
2damaged DNA bindingGO:0036849.3FEN1, DDB1
3chloride channel activityGO:0052548.8BEST1, BEST2, BEST3, BEST4

Products for genes affiliated with Vitelliform Macular Dystrophy

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  • Antibodies
  • Proteins
  • Lysates

Sources for Vitelliform Macular Dystrophy

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet