MCID: MCL007
MIFTS: 40

Macular Dystrophy malady

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Summaries for Macular Dystrophy

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Wikipedia:65 Macular dystrophy may refer to any of these eye diseases: more...

MalaCards based summary: Macular Dystrophy is related to best vitelliform macular dystrophy and adult-onset vitelliform macular dystrophy. An important gene associated with Macular Dystrophy is PRPH2 (peripherin 2 (retinal degeneration, slow)). The drugs interferon alfa-2a and interferon alfa-2b 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.

Aliases & Classifications for Macular Dystrophy

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Macular Dystrophy, Aliases & Descriptions:

Name: Macular Dystrophy 46 62


Related Diseases for Macular Dystrophy

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

(show top 50)    (show all 83)
idRelated DiseaseScoreTop Affiliating Genes
1best vitelliform macular dystrophy32.0BEST1
2adult-onset vitelliform macular dystrophy31.4BEST1, PRPH2
3vitelliform macular dystrophy31.4FEN1, PRPH2, BEST1, ROM1
4fundus flavimaculatus31.1ROM1
5fundus dystrophy30.1ROM1, BEST1
6retinal degeneration29.8ROM1, BEST1, ELOVL4, PROM1, PRPH2
7north carolina macular dystrophy10.9
8occult macular dystrophy10.8
9retinitis10.8
10cystoid macular dystrophy10.6
11choroiditis10.6
12hypotrichosis10.6
13retinitis pigmentosa10.5
14eem syndrome10.5
15benign concentric annular macular dystrophy10.5
16juvenile macular degeneration and hypotrichosis10.4
17age related macular degeneration10.4
18macular dystrophy, atypical vitelliform10.4
19ataxia10.4
20cerebellar ataxia10.3
21ectodermal dysplasia10.3
22macular dystrophy, retinal, 210.3
23amyotrophic lateral sclerosis type 1410.3PRPH2
24macular holes10.3
25fundus albipunctatus10.3
26maternally inherited diabetes and deafness10.3
27peripheral retinal degeneration10.2ROM1
28stargardt disease10.2
29sjogren-larsson syndrome10.2
30macular corneal dystrophy10.2
31retinal detachment10.2
32retinal disease10.2
33fundus dystrophy, pseudoinflammatory, of sorsby10.2
34macular dystrophy, concentric annular10.2
35progressive bifocal chorioretinal atrophy10.2
36prph2-related adult-onset vitelliform macular dystrophy10.2
37macular dystrophy, retinal, 310.2
38macular dystrophy, patterned10.2
39macular dystrophy, dominant cystoid10.2
40achromatopsia10.0
41alopecia10.0
42keratoconus10.0
43coats disease10.0
44von hippel-lindau disease10.0
45kearns-sayre syndrome10.0
46scotoma10.0
47limb-girdle muscular dystrophy10.0
48sensorineural hearing loss10.0
49cystoid macular edema10.0
50aniridia10.0

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



Diseases related to macular dystrophy

Symptoms for Macular Dystrophy

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Drugs & Therapeutics for Macular Dystrophy

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Genetic Tests for Macular Dystrophy

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Anatomical Context for Macular Dystrophy

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MalaCards organs/tissues related to Macular Dystrophy:

32
Eye, Retina, Smooth muscle, Testes, Endothelial

Animal Models for Macular Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Macular Dystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9BEST1, ELOVL4, PROM1, PRPH2
2MP:00053917.8ROM1, RP1L1, BEST1, ELOVL4, PROM1, PRPH2
3MP:00036316.8FEN1, PRPH2, PROM1, PRPH, ELOVL4, RP1L1

Publications for Macular Dystrophy

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Articles related to Macular Dystrophy:

(show top 50)    (show all 438)
idTitleAuthorsYear
1
Macular caldera in North Carolina macular dystrophy--reply. (24921180)
2014
2
Deciphering mutant ELOVL4 activity in autosomal-dominant Stargardt macular dystrophy. (23509295)
2013
3
BEST1 sequence variants in Italian patients with vitelliform macular dystrophy. (23213274)
2012
4
A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms. (22605915)
2012
5
Macular dystrophy in Heimler syndrome. (21366429)
2011
6
Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients. (21273940)
2011
7
Morphologic photoreceptor abnormality in occult macular dystrophy on spectral-domain optical coherence tomography. (20164460)
2010
8
Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy. (20381869)
2010
9
Historical evolution in the understanding of Stargardt macular dystrophy. (20809774)
2010
10
Phenotypic heterogeneity and lesion size measurements in Stargardt macular dystrophy. (19772279)
2009
11
Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy. (19597114)
2009
12
Spectral domain optical coherence tomographic findings of occult macular dystrophy. (19320307)
2009
13
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. (20057903)
2009
14
Juvenile macular dystrophy and forearm pronation-supination restriction presenting with features of distal arthrogryposis type 5. (19213027)
2009
15
Exudative age-related macular degeneration or Best vitelliform macular dystrophy?--A case report. (18655458)
2008
16
Optical coherence tomography demonstration of Best's vitelliform macular dystrophy in a child. (18050818)
2007
17
Subfoveal choroidal neovascularization in a 3-year-old child with North Carolina macular dystrophy. (17913524)
2007
18
Corneal macular dystrophy: clinical, histopathologic and ultrastructural features]. (16804774)
2006
19
Vitelliform macular dystrophy. (16877078)
2006
20
A novel mutation of the VMD2 gene in a Chinese family with best vitelliform macular dystrophy. (16865191)
2006
21
Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2. (16754206)
2006
22
Late onset is common in best macular dystrophy associated with VMD2 gene mutations. (15808248)
2005
23
Gene Symbol: VMD2. Disease: Best vitelliform macular dystrophy (VMD2). (15176385)
2004
24
Morphology and functional characteristics in adult vitelliform macular dystrophy. (15579992)
2004
25
Detection of retinal dysfunction in vitelliform macular dystrophy using the multifocal ERG (MF-ERG). (12678279)
2003
26
Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss. (12812894)
2003
27
An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5. (12714659)
2003
28
The vitelliform macular dystrophy protein defines a new family of chloride channels. (11904445)
2002
29
Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation. (12192456)
2002
30
L- and M-cone-driven electroretinograms in Stargardt's macular dystrophy-fundus flavimaculatus. (11328755)
2001
31
A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family. (11581213)
2001
32
North Carolina macular dystrophy: clinicopathologic correlation. (11797312)
2001
33
The effect of lipid environment and retinoids on the ATPase activity of ABCR, the photoreceptor ABC transporter responsible for Stargardt macular dystrophy. (10767284)
2000
34
Ophthaproblem. Vitelliform macular dystrophy (Best's disease). (10587765)
1999
35
A North Carolina macular dystrophy phenotype in a Belizean family maps to the MCDR1 locus. (9559736)
1998
36
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. (9288113)
1997
37
Observation of macular lesion in Best's vitelliform macular dystrophy by scanning laser ophthalmoscope. (8970872)
1995-1996
38
Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight families. (8032856)
1994
39
Loci for autosomal dominant retinitis pigmentosa and dominant cystoid macular dystrophy on chromosome 7p are not allelic. (8079997)
1994
40
Stargardt's macular dystrophy. (8002831)
1994
41
Dark adaptation in patients with Best vitelliform macular dystrophy. (8060924)
1994
42
Monozygotic twin sisters with adult vitelliform macular dystrophy. (8352318)
1993
43
Long-term follow-up of dominant macular dystrophy with flecks (Stargardt). (1475092)
1992
44
Histopathology of Best's macular dystrophy. (7092654)
1982
45
Pseudohypopyon in Best's vitelliform macular dystrophy. (7091279)
1982
46
Vitelliform macular dystrophy of late onset. (7317335)
1981
47
Fenestrated sheen macular dystrophy. (7362516)
1980
48
Fenestrated sheen macular dystrophy. A new autosomal dominant maculopathy. (454265)
1979
49
Benign concentric annular macular dystrophy. (4412179)
1974
50
Histochemistry of corneal macular dystrophy. (4186541)
1969

Variations for Macular Dystrophy

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Expression for genes affiliated with Macular Dystrophy

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Expression patterns in normal tissues for genes affiliated with Macular Dystrophy

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Pathways for genes affiliated with Macular Dystrophy

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Compounds for genes affiliated with Macular Dystrophy

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GO Terms for genes affiliated with Macular Dystrophy

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segmentGO:0017509.5RP1L1, PROM1
2photoreceptor outer segment membraneGO:0426228.7ROM1, PRPH, PROM1

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor cell maintenanceGO:0454949.2RP1L1, PROM1
2cell adhesionGO:0071559.1CDH3, ROM1, PRPH2
3visual perceptionGO:0076017.7IMPG1, PRPH2, BEST1, RP1L1, ROM1, CDH3

Products for genes affiliated with Macular Dystrophy

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  • Antibodies
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Sources for 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