MCID: PTT054
MIFTS: 20

Patterned Macular Dystrophy

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Patterned Macular Dystrophy

MalaCards integrated aliases for Patterned Macular Dystrophy:

Name: Patterned Macular Dystrophy 12 15
Patterned Dystrophy of Retinal Pigment Epithelium 12
Macular Dystrophy, Patterned 29

Classifications:



External Ids:

Disease Ontology 12 DOID:0060863
ICD10 32 H35.5

Summaries for Patterned Macular Dystrophy

Disease Ontology : 12 A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped.

MalaCards based summary : Patterned Macular Dystrophy, also known as patterned dystrophy of retinal pigment epithelium, is related to macular dystrophy, patterned, 3 and macular dystrophy, patterned, 2. An important gene associated with Patterned Macular Dystrophy is MAPKAPK3 (MAPK Activated Protein Kinase 3). Affiliated tissues include eye and retina, and related phenotypes are Increased Nanog expression and Increased Nanog expression

Related Diseases for Patterned Macular Dystrophy

Diseases in the Patterned Macular Dystrophy family:

Macular Dystrophy, Patterned, 1 Macular Dystrophy, Patterned, 2
Macular Dystrophy, Patterned, 3

Diseases related to Patterned Macular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 macular dystrophy, patterned, 3 32.4 VEGFA MAPKAPK3 ALLC
2 macular dystrophy, patterned, 2 11.6
3 macular dystrophy, patterned, 1 11.6
4 exudative vitreoretinopathy 9.9 VEGFA NR2E3
5 choroidal dystrophy, central areolar, 1 9.9 ROM1 NR2E3
6 pattern dystrophy 9.9 ROM1 RHO
7 chorioretinal scar 9.9 VEGFA RHO
8 cancer-associated retinopathy 9.9 VEGFA RHO
9 yemenite deaf-blind hypopigmentation syndrome 9.9 VEGFA RHO
10 exudative vitreoretinopathy 5 9.8 ROM1 RHO
11 choroid disease 9.8 VEGFA RHO
12 vitreous disease 9.8 VEGFA RHO
13 scotoma 9.8 VEGFA RHO
14 macular retinal edema 9.8 VEGFA RHO
15 gyrate atrophy of choroid and retina 9.8 ROM1 RHO
16 coats disease 9.8 VEGFA RHO
17 sorsby fundus dystrophy 9.8 VEGFA RHO
18 degeneration of macula and posterior pole 9.8 VEGFA RHO
19 uveal disease 9.8 VEGFA RHO
20 prolonged electroretinal response suppression 9.8 RHO NR2E3
21 color blindness 9.8 RHO NR2E3
22 lens disease 9.8 VEGFA RHO
23 retinal vascular disease 9.8 VEGFA RHO
24 stargardt disease 1 9.7 ROM1 RHO
25 vitelliform macular dystrophy 9.7 ROM1 RHO
26 retinoschisis 1, x-linked, juvenile 9.7 RHO NR2E3
27 late-onset retinal degeneration 9.7 RHO NR2E3
28 glaucoma, primary open angle 9.7 VEGFA RHO
29 microvascular complications of diabetes 5 9.7 VEGFA RHO
30 usher syndrome type 2 9.6 RHO NR2E3
31 achromatopsia 9.6 RHO NR2E3
32 exudative vitreoretinopathy 1 9.6 VEGFA RHO
33 macular dystrophy, dominant cystoid 9.5 VEGFA RHO NR2E3
34 retinitis pigmentosa 1 9.5 ROM1 RHO NR2E3
35 enhanced s-cone syndrome 9.5 ROM1 RHO NR2E3
36 nanophthalmos 9.5 ROM1 RHO NR2E3
37 fundus albipunctatus 9.5 ROM1 RHO NR2E3
38 stargardt disease 9.5 ROM1 RHO NR2E3
39 retinal disease 9.5 ROM1 RHO NR2E3
40 congenital stationary night blindness 9.5 ROM1 RHO NR2E3
41 cone dystrophy 9.5 ROM1 RHO NR2E3
42 retinal detachment 9.5 VEGFA RHO
43 usher syndrome 9.5 ROM1 RHO NR2E3
44 retinal degeneration 9.5 ROM1 RHO NR2E3
45 eye degenerative disease 9.3 VEGFA ROM1 RHO NR2E3
46 macular degeneration, age-related, 1 9.2 VEGFA ROM1 RHO NR2E3
47 leber plus disease 9.2 VEGFA ROM1 RHO NR2E3
48 eye disease 9.2 VEGFA ROM1 RHO NR2E3
49 fundus dystrophy 9.2 VEGFA ROM1 RHO NR2E3
50 retinitis pigmentosa 9.0 VEGFA ROM1 RHO NR2E3 MAPKAPK3

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



Diseases related to Patterned Macular Dystrophy

Symptoms & Phenotypes for Patterned Macular Dystrophy

GenomeRNAi Phenotypes related to Patterned Macular Dystrophy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 9.1 VEGFA
2 Increased Nanog expression GR00371-A-2 9.1 VEGFA
3 Increased Nanog expression GR00371-A-4 9.1 VEGFA
4 Increased Nanog expression GR00371-A-5 9.1 MAPKAPK3 RHO VEGFA

Drugs & Therapeutics for Patterned Macular Dystrophy

Search Clinical Trials , NIH Clinical Center for Patterned Macular Dystrophy

Genetic Tests for Patterned Macular Dystrophy

Genetic tests related to Patterned Macular Dystrophy:

# Genetic test Affiliating Genes
1 Macular Dystrophy, Patterned 29

Anatomical Context for Patterned Macular Dystrophy

MalaCards organs/tissues related to Patterned Macular Dystrophy:

40
Eye, Retina

Publications for Patterned Macular Dystrophy

Articles related to Patterned Macular Dystrophy:

# Title Authors PMID Year
1
A patterned macular dystrophy with yellow plaques and atrophic changes. 61
7362814 1980

Variations for Patterned Macular Dystrophy

Expression for Patterned Macular Dystrophy

Search GEO for disease gene expression data for Patterned Macular Dystrophy.

Pathways for Patterned Macular Dystrophy

GO Terms for Patterned Macular Dystrophy

Cellular components related to Patterned Macular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 8.96 ROM1 RHO
2 photoreceptor outer segment membrane GO:0042622 8.62 ROM1 RHO

Biological processes related to Patterned Macular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.54 ROM1 RHO NR2E3
2 visual perception GO:0007601 9.33 ROM1 RHO NR2E3
3 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.32 VEGFA MAPKAPK3
4 phototransduction GO:0007602 9.26 RHO NR2E3
5 eye photoreceptor cell development GO:0042462 8.96 VEGFA NR2E3
6 retina development in camera-type eye GO:0060041 8.8 ROM1 RHO NR2E3

Sources for Patterned Macular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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