MCID: MCL007
MIFTS: 33

Macular Dystrophy malady

Summaries for Macular Dystrophy

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63Wikipedia, 32MalaCards
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Wikipedia:63 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 eye, and related mouse phenotypes are pigmentation and nervous system.

Aliases & Classifications for Macular Dystrophy

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60UMLS, 46OMIM
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Aliases & Descriptions:

macular dystrophy 46
age related macular degeneration 60


Related Diseases for Macular Dystrophy

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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 139)
idRelated DiseaseScoreTop Affiliating Genes
1vitelliform macular dystrophy31.5FEN1, DDB1, PRPH2, ROM1, BEST1
2best vitelliform macular dystrophy31.3BEST1
3fundus dystrophy30.9BEST1, ROM1
4adult-onset vitelliform macular dystrophy30.8BEST1, PRPH2
5retinal disease30.3PRPH2, ROM1, BEST1
6peripheral retinal degeneration30.3ROM1
7retinal degeneration30.2PROM1, PRPH2, ROM1, BEST1, ELOVL4
8eye disease10.9
9occult macular dystrophy10.8
10retinitis10.7
11cataract10.7
12diabetic retinopathy10.7
13age-related macular degeneration 110.6
14diabetic macular edema10.6
15north carolina macular dystrophy10.6
16hypotrichosis10.6
17atherosclerosis10.6
18choroiditis10.5
19cone dystrophy10.5
20refractive error10.5
21age-related macular degeneration 210.5
22age-related macular degeneration 810.5
23retinitis pigmentosa10.5
24retinal drusen10.4
25kuhnt-junius degeneration10.4
26pneumonia10.4
27vascular disease10.4
28age-related macular degeneration 310.4
29age-related macular degeneration 410.4
30age-related macular degeneration 510.4
31age-related macular degeneration 610.4
32age-related macular degeneration 710.4
33age-related macular degeneration 910.4
34macular corneal dystrophy10.4
35eem syndrome10.4
36juvenile macular degeneration and hypotrichosis10.4
37cutis laxa10.4
38alzheimer's disease10.4
39vitreous detachment10.4
40complement deficiency10.4
41hepatitis10.4
42myopia10.4
43uveitis10.4
44age related macular degeneration10.3
45corneal dystrophy10.3
46macular dystrophy, atypical vitelliform10.3
47stargardt disease10.3
48cerebellar ataxia10.3
49macular dystrophy, retinal, 210.3
50benign concentric annular macular dystrophy10.3

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



Diseases related to macular dystrophy

Clinical Features for Macular Dystrophy

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Drugs & Therapeutics for Macular Dystrophy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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 UMLS60/NDF-RT40:

Genetic Tests for Macular Dystrophy

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Anatomical Context for Macular Dystrophy

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32MalaCards
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MalaCards organs/tissues related to Macular Dystrophy:

32
Eye

Animal Models for Macular Dystrophy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Macular Dystrophy:

36
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

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Genetic Variations for Macular Dystrophy

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Expression for genes affiliated with Macular Dystrophy

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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

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53Reactome
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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

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44Novoseek, 24HMDB
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Compounds related to Macular Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1chlorine44 2411.1BEST1, BEST2, BEST3, BEST4

GO Terms for genes affiliated with Macular Dystrophy

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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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet