MCID: MCL007
MIFTS: 44

Macular Dystrophy malady

Summaries for Macular Dystrophy

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64Wikipedia, 33MalaCards
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Wikipedia:64 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)), and among its related pathways are SLC-mediated transmembrane transport and Ion channel transport. The drugs interferon alfa-2a and interferon alfa-2b and the compound chlorine have been mentioned in the context of this disorder. Affiliated tissues include retina, smooth muscle and skeletal muscle, and related mouse phenotypes are pigmentation and nervous system.

Aliases & Classifications for Macular Dystrophy

Sources:
61UMLS, 47OMIM
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Aliases & Descriptions:

macular dystrophy 47
age related macular degeneration 61


Related Diseases for Macular Dystrophy

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Macular Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 130)
idRelated DiseaseScoreTop Affiliating Genes
1vitelliform macular dystrophy31.5ROM1, BEST1, FEN1, DDB1, PRPH2
2best vitelliform macular dystrophy31.3BEST1
3adult-onset vitelliform macular dystrophy31.0PRPH2, BEST1
4age related macular degeneration11.0
5north carolina macular dystrophy10.8
6occult macular dystrophy10.8
7char syndrome10.7
8charles bonnet syndrome10.7
9age-related macular degeneration 110.7
10diabetic macular edema10.6
11cystoid macular dystrophy10.6
12atherosclerosis10.6
13macular dystrophy, dominant cystoid10.5
14retinal drusen10.5
15age-related macular degeneration 210.5
16age-related macular degeneration 810.5
17cone dystrophy10.5
18retinitis pigmentosa10.5
19macular dystrophy, atypical vitelliform10.5
20kuhnt-junius degeneration10.5
21vascular disease10.5
22late-onset retinal degeneration10.5
23age-related macular degeneration 310.5
24age-related macular degeneration 410.5
25age-related macular degeneration 510.5
26age-related macular degeneration 610.5
27age-related macular degeneration 710.5
28age-related macular degeneration 910.5
29macular corneal dystrophy10.4
30fundus flavimaculatus10.4
31benign concentric annular macular dystrophy10.4
32eem syndrome10.4
33juvenile macular degeneration and hypotrichosis10.4
34macular dystrophy, concentric annular10.4
35cutis laxa10.4
36alzheimer's disease10.4
37vitreous detachment10.4
38uveitis10.4
39stargardt disease10.3
40ataxia10.3
41ectodermal dysplasia10.3
42macular dystrophy, retinal, 210.3
43fundus albipunctatus10.2
44macular dystrophy, patterned10.2
45macular dystrophy, autosomal dominant, chromosome 6-linked10.2
46coronary artery disease,10.2
47parkinson's disease10.2
48membranoproliferative glomerulonephritis10.2
49choroiditis10.2
50systemic lupus erythematosus10.2

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



Diseases related to macular dystrophy

Clinical Features for Macular Dystrophy

Drugs & Therapeutics for Macular Dystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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 UMLS61/NDF-RT41:

Genetic Tests for Macular Dystrophy

Anatomical Context for Macular Dystrophy

Sources:
33MalaCards
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MalaCards organs/tissues related to Macular Dystrophy:

33
Retina, Smooth muscle, Skeletal muscle, Skin, Endothelial

Animal Models for Macular Dystrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Macular Dystrophy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.9PROM1, PRPH2, BEST1, ELOVL4
2MP:00036319.8FEN1, DDB1, PROM1, PRPH, PRPH2, ROM1
3MP:00053919.7ELOVL4, RP1L1, DDB1, PROM1, PRPH2, ROM1

Publications for Macular Dystrophy

Sources:
51PubMed
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Articles related to Macular Dystrophy:

(show top 50)    (show all 519)
idTitleAuthorsYear
1
Comparison of macular choroidal thickness in adult onset foveomacular vitelliform dystrophy and age-related macular degeneration. (24282233)
2014
2
Characterizing the phenotype and genotype of a family with occult macular dystrophy. (23229695)
2012
3
Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6. (19204788)
2009
4
Novel mutations of CHST6 in Iranian patients with macular corneal dystrophy. (19223992)
2009
5
Natural history of phenotypic changes in Stargardt macular dystrophy. (19373676)
2009
6
Gene symbol: ABCA4. Disease: Macular dystrophy. (18386365)
2008
7
Spontaneous separation of epiretinal membrane in a child with Stargardt macular dystrophy. (17964205)
2007
8
Corneal macular dystrophy: clinical, histopathologic and ultrastructural features]. (16804774)
2006
9
A Korean family with an early-onset autosomal dominant macular dystrophy resembling North Carolina macular dystrophy. (17302207)
2006
10
Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy. (15652851)
2005
11
Concomitant keratoconus and macular corneal dystrophy. (15220737)
2004
12
Macular translocation in adult-onset vitelliform macular dystrophy: a therapy to be recommended? (15138767)
2004
13
Detection of retinal dysfunction in vitelliform macular dystrophy using the multifocal ERG (MF-ERG). (12678279)
2003
14
Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations. (12883341)
2003
15
Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy. (12324875)
2002
16
L- and M-cone-driven electroretinograms in Stargardt's macular dystrophy-fundus flavimaculatus. (11328755)
2001
17
An Australian family with macular dystrophy linked to autosomal recessive alopecia universalis. (11225573)
2001
18
ABCR expression in foveal cone photoreceptors and its role in stargardt macular dystrophy (11078864)
2000
19
Stargardt's macular dystrophy. (10874205)
2000
20
Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. (11017086)
2000
21
Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14. (10218695)
1999
22
Multifocal electroretinography in patients with occult macular dystrophy. (10636668)
1999
23
A North Carolina macular dystrophy phenotype in a Belizean family maps to the MCDR1 locus. (9559736)
1998
24
Macular function testing in a German pedigree with North Carolina macular dystrophy. (9801043)
1998
25
Multifocal electroretinography in patients with Stargardt's macular dystrophy. (9602623)
1998
26
The EOG in Best's disease and dominant cystoid macular dystrophy (DCMD). (8905850)
1996
27
Still no evidence for heterogeneity in Best's vitelliform macular dystrophy. (8818958)
1996
28
Macular dystrophy as a retinal model of fixation disparity. (21314369)
1996
29
Deletion in the peripherin/RDS gene in two unrelated Sardinian families with autosomal dominant butterfly-shaped macular dystrophy. (8602784)
1996
30
A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13. (7847373)
1995
31
The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. (7647798)
1995
32
Dark adaptation in patients with Best vitelliform macular dystrophy. (8060924)
1994
33
Vitelliform macular dystrophy: a cause of macular holes with retinal detachments. (7821484)
1994
34
A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34. (8002833)
1994
35
Fine mapping of Best's macular dystrophy localizes the gene in close proximity to but distinct from the D11S480/ROM1 loci. (7713492)
1994
36
Visual acuity in patients with best vitelliform macular dystrophy. (8233392)
1993
37
Butterfly-shaped macular dystrophy. Longitudinal case study of two siblings. (8015787)
1993
38
Hereditary hemorrhagic macular dystrophy. (2000899)
1991
39
Macular corneal dystrophy: reduction in both corneal thickness and collagen interfibrillar spacing. (2340750)
1990
40
Vitreous fluorophotometry in patients with Best's macular dystrophy. (2402550)
1990
41
Corneal alpha-galactosidase deficiency in macular corneal dystrophy. (2999674)
1985
42
Vitelliform macular dystrophy and butterfly-shaped epithelial dystrophy: a continuum? (7066268)
1982
43
Research into the pathogenesis of macular corneal dystrophy. (6973846)
1980
44
Abnormal product of corneal explants from patients with macular corneal dystrophy. (6969547)
1980
45
The cornea in normal condition and in Groenouw's macular dystrophy. (161528)
1979
46
Hereditary hemorrhagic macular dystrophy. (655211)
1978
47
Polymorphous presentations in vitelliform macular dystrophy: subretinal neovascularisation and central choroidal atrophy. (687557)
1978
48
Dominant slowly progressive macular dystrophy. (868967)
1977
49
Scheie syndrome and macular corneal dystrophy. An ultrastructural comparison of conjunctiva and skin. (4253322)
1971
50
Olivopontocerebellar degeneration with macular dystrophy. (5173375)
1971

Genetic Variations for Macular Dystrophy

Expression for genes affiliated with Macular Dystrophy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Macular Dystrophy

Search GEO for disease gene expression data for Macular Dystrophy.

Pathways for genes affiliated with Macular Dystrophy

Sources:
54Reactome
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Pathways related to Macular Dystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.1BEST1, BEST2, BEST3, BEST4
2
Hide members
10.1BEST1, BEST2, BEST3, BEST4

Compounds for genes affiliated with Macular Dystrophy

Sources:
45Novoseek, 24HMDB
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Compounds related to Macular Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1chlorine45 2411.1BEST1, BEST2, BEST3, BEST4

GO Terms for genes affiliated with Macular Dystrophy

Sources:
16Gene Ontology
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Cellular components related to Macular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segmentGO:00175010.3PROM1, RP1L1
2chloride channel complexGO:03470710.0BEST1, BEST2, BEST3, BEST4
3photoreceptor outer segment membraneGO:0426229.9ROM1, PRPH, PROM1

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor cell maintenanceGO:04549410.3PROM1, RP1L1
2visual perceptionGO:0076019.8BEST1, ROM1, CDH3, PRPH2, RP1L1

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

idNameGO IDScoreTop Affiliating Genes
1chloride channel activityGO:00525410.1BEST1, BEST2, BEST3, BEST4

Products for genes affiliated with Macular Dystrophy

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  • Proteins
  • Lysates
  • Antibodies

Sources for Macular Dystrophy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet