MCID: PTT054
MIFTS: 20

Patterned Macular Dystrophy

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Patterned Macular Dystrophy

MalaCards integrated aliases for Patterned Macular Dystrophy:

Name: Patterned Macular Dystrophy 12 15
Macular Dystrophy, Patterned 29 13
Patterned Dystrophy of Retinal Pigment Epithelium 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060863
ICD10 33 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 macular dystrophy, patterned, is related to macular dystrophy, patterned, 3 and macular dystrophy, patterned, 2. An important gene associated with Patterned Macular Dystrophy is MAPKAPK3 (Mitogen-Activated Protein Kinase-Activated Protein Kinase 3), and among its related pathways/superpathways are MAPK signaling pathway and Immune response Fc epsilon RI pathway. Affiliated tissues include eye, 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:

# Related Disease Score Top Affiliating Genes
1 macular dystrophy, patterned, 3 30.4 ALLC MAPKAPK3 VEGFA
2 macular dystrophy, patterned, 2 11.7
3 macular dystrophy, patterned, 1 11.7
4 immature cataract 9.2 ALLC MAPKAPK3

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 9.02 VEGFA
2 Increased Nanog expression GR00371-A-2 9.02 VEGFA
3 Increased Nanog expression GR00371-A-4 9.02 VEGFA
4 Increased Nanog expression GR00371-A-5 9.02 MAPKAPK3 VEGFA
5 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 8.96 MAPKAPK3 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:

41
Eye

Publications for Patterned Macular Dystrophy

Articles related to Patterned Macular Dystrophy:

# Title Authors Year
1
A patterned macular dystrophy with yellow plaques and atrophic changes. ( 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

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

# Name GO ID Score Top Affiliating Genes
1 vascular endothelial growth factor receptor signaling pathway GO:0048010 8.62 MAPKAPK3 VEGFA

Sources for Patterned Macular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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