MCID: MCL007
MIFTS: 41

Macular Dystrophy malady

Summaries for Macular Dystrophy

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66Wikipedia, 34MalaCards
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Wikipedia:66 Macular dystrophy may refer to any of these eye diseases: more...

MalaCards: Macular Dystrophy, also known as age related macular degeneration, is related to vitelliform macular dystrophy and best 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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Sources:
63UMLS, 48OMIM
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Aliases & Descriptions:

macular dystrophy 48
age related macular degeneration 63


Related Diseases for Macular Dystrophy

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Macular Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 88)
idRelated DiseaseScoreTop Affiliating Genes
1vitelliform macular dystrophy31.5FEN1, PRPH2, BEST1, ROM1
2best vitelliform macular dystrophy31.5BEST1
3adult-onset vitelliform macular dystrophy31.1BEST1, PRPH2
4fundus flavimaculatus30.7ROM1
5retinal degeneration30.1ROM1, BEST1, ELOVL4, PROM1, PRPH2
6fundus dystrophy30.0ROM1, BEST1
7north carolina macular dystrophy10.9
8occult macular dystrophy10.8
9retinitis10.7
10hypotrichosis10.6
11cystoid macular dystrophy10.6
12choroiditis10.6
13retinitis pigmentosa10.5
14eem syndrome10.5
15benign concentric annular macular dystrophy10.4
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
23macular holes10.3
24fundus albipunctatus10.3
25maternally inherited diabetes and deafness10.3
26stargardt disease10.2
27macular corneal dystrophy10.2
28aniridia10.2
29sjogren-larsson syndrome10.2
30glaucoma10.2
31retinal disease10.2
32fundus dystrophy, pseudoinflammatory, of sorsby10.2
33macular dystrophy, concentric annular10.2
34progressive bifocal chorioretinal atrophy10.2
35prph2-related adult-onset vitelliform macular dystrophy10.2
36macular dystrophy, retinal, 310.2
37macular dystrophy, patterned10.2
38macular dystrophy, autosomal dominant, chromosome 6-linked10.2
39macular dystrophy, dominant cystoid10.2
40amyotrophic lateral sclerosis10.1PRPH2
41peripheral retinal degeneration10.1ROM1
42kearns-sayre syndrome10.0
43scotoma10.0
44coats disease10.0
45limb-girdle muscular dystrophy10.0
46sensorineural hearing loss10.0
47cystoid macular edema10.0
48alopecia universalis10.0
49oculocutaneous albinism10.0
50melas syndrome10.0

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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Macular Dystrophy

Drug clinical trials:

Search ClinicalTrials for Macular Dystrophy

Search NIH Clinical Center for Macular Dystrophy

Search CenterWatch for Macular Dystrophy

Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Macular Dystrophy

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Anatomical Context for Macular Dystrophy

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34MalaCards
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MalaCards organs/tissues related to Macular Dystrophy:

34
Eye, Retina, Smooth muscle, Testes, Endothelial

Animal Models for Macular Dystrophy or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Macular Dystrophy:

38
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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53PubMed
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Articles related to Macular Dystrophy:

(show top 50)    (show all 416)
idTitleAuthorsYear
1
Deciphering mutant ELOVL4 activity in autosomal-dominant Stargardt macular dystrophy. (23509295)
2013
2
BEST1 sequence variants in Italian patients with vitelliform macular dystrophy. (23213274)
2012
3
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
4
Macular dystrophy in Heimler syndrome. (21366429)
2011
5
Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients. (21273940)
2011
6
Morphologic photoreceptor abnormality in occult macular dystrophy on spectral-domain optical coherence tomography. (20164460)
2010
7
Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy. (20381869)
2010
8
Historical evolution in the understanding of Stargardt macular dystrophy. (20809774)
2010
9
Phenotypic heterogeneity and lesion size measurements in Stargardt macular dystrophy. (19772279)
2009
10
Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy. (19597114)
2009
11
Spectral domain optical coherence tomographic findings of occult macular dystrophy. (19320307)
2009
12
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. (20057903)
2009
13
Juvenile macular dystrophy and forearm pronation-supination restriction presenting with features of distal arthrogryposis type 5. (19213027)
2009
14
Exudative age-related macular degeneration or Best vitelliform macular dystrophy?--A case report. (18655458)
2008
15
Optical coherence tomography demonstration of Best's vitelliform macular dystrophy in a child. (18050818)
2007
16
Subfoveal choroidal neovascularization in a 3-year-old child with North Carolina macular dystrophy. (17913524)
2007
17
Corneal macular dystrophy: clinical, histopathologic and ultrastructural features]. (16804774)
2006
18
Vitelliform macular dystrophy. (16877078)
2006
19
A novel mutation of the VMD2 gene in a Chinese family with best vitelliform macular dystrophy. (16865191)
2006
20
Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2. (16754206)
2006
21
Late onset is common in best macular dystrophy associated with VMD2 gene mutations. (15808248)
2005
22
Gene Symbol: VMD2. Disease: Best vitelliform macular dystrophy (VMD2). (15176385)
2004
23
Morphology and functional characteristics in adult vitelliform macular dystrophy. (15579992)
2004
24
A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy. (15557430)
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
Vitelliform macular dystrophy of late onset. (7317335)
1981
46
Fenestrated sheen macular dystrophy. (7362516)
1980
47
Fenestrated sheen macular dystrophy. A new autosomal dominant maculopathy. (454265)
1979
48
Benign concentric annular macular dystrophy. (4412179)
1974
49
Cytochemical study of macular dystrophy of the cornea (Groenouw II): an ultrastructural study. (4133066)
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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2BioGPS, 16Gene Expression Omnibus DataSets
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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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17Gene Ontology
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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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Sources for Macular Dystrophy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet