MCID: MCL070
MIFTS: 28

Macular Dystrophy, Patterned, 3

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Macular Dystrophy, Patterned, 3

MalaCards integrated aliases for Macular Dystrophy, Patterned, 3:

Name: Macular Dystrophy, Patterned, 3 57 75 6
Martinique Crinkled Retinal Pigment Epitheliopathy 57 12 59 75
Mdpt3 57 12 75
Patterned Macular Dystrophy 3 12 15
Mcrpe 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 1 large multigenerational family from martinique (last curated september 2016)
intrafamilial variability
electroretinography may be normal in early stages of the disease, but later cone and rod responses are severely reduced


HPO:

32
macular dystrophy, patterned, 3:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 617111
Disease Ontology 12 DOID:0060865
Orphanet 59 ORPHA466718
ICD10 via Orphanet 34 H35.5
MeSH 44 D058499
SNOMED-CT via HPO 69 263681008 28835009 13164000

Summaries for Macular Dystrophy, Patterned, 3

OMIM : 57 Patterned macular dystrophy-3 (MDPT3), also called Martinique crinkled retinal pigment epitheliopathy, appears in the fourth or fifth decade of life and is characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina. Polypoid choroidal vasculopathy, choroidal neovascularization, or atrophic fibrous macular scarring can cause reduced visual acuity after age 50. Late-stage MDPT3 consists of a retinitis pigmentosa (RP; see 268000)-like phenotype due to death of retinal pigment epithelium (RPE) and photoreceptor cells. The dry desert land pattern observed on fundus examination corresponds to an irregular thickness of the Bruch membrane and the RPE, with a scalloped elevation ('crinkling') of the RPE observed on optical coherence tomography (OCT). Full-field electroretinography may be normal at preclinical and early stages of the dystrophy, but later cone and rod responses are severely reduced, consistent with progressive photoreceptor cell dysfunction and death at the final state (summary by Meunier et al., 2016). For a general phenotypic description and discussion of genetic heterogeneity of patterned macular dystrophy, see MDPT1 (169150). (617111)

MalaCards based summary : Macular Dystrophy, Patterned, 3, also known as martinique crinkled retinal pigment epitheliopathy, is related to retinitis and immature cataract. An important gene associated with Macular Dystrophy, Patterned, 3 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 retina and eye, and related phenotypes are rod-cone dystrophy and reduced visual acuity

UniProtKB/Swiss-Prot : 75 Macular dystrophy, patterned, 3: A form of retinal patterned dystrophy, characterized by retinal pigment epithelium and Bruch's membrane changes resembling a 'dry desert land'. It begins around the age of 30 and progresses to retinitis pigmentosa. MDPT3 inheritance is autosomal dominant.

Disease Ontology : 12 A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has material basis in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21.

Related Diseases for Macular Dystrophy, Patterned, 3

Diseases in the Patterned Macular Dystrophy family:

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

Diseases related to Macular Dystrophy, Patterned, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis 10.3
2 immature cataract 9.2 ALLC MAPKAPK3
3 patterned macular dystrophy 8.5 ALLC MAPKAPK3 VEGFA

Symptoms & Phenotypes for Macular Dystrophy, Patterned, 3

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
'dry desert land' pattern in fundus
reduced visual acuity (in older patients)
polypoid choroidal vasculopathy (in some patients)
choroidal neovascularization (in some patients)
macular atrophy and/or fibrous scarring (in older patients)
more

Clinical features from OMIM:

617111

Human phenotypes related to Macular Dystrophy, Patterned, 3:

32
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 reduced visual acuity 32 HP:0007663

GenomeRNAi Phenotypes related to Macular Dystrophy, Patterned, 3 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 Macular Dystrophy, Patterned, 3

Search Clinical Trials , NIH Clinical Center for Macular Dystrophy, Patterned, 3

Genetic Tests for Macular Dystrophy, Patterned, 3

Anatomical Context for Macular Dystrophy, Patterned, 3

MalaCards organs/tissues related to Macular Dystrophy, Patterned, 3:

41
Retina, Eye

Publications for Macular Dystrophy, Patterned, 3

Articles related to Macular Dystrophy, Patterned, 3:

# Title Authors Year
1
Martinique Crinkled Retinal Pigment Epitheliopathy: Clinical Stages and Pathophysiologic Insights. ( 27474146 )
2016

Variations for Macular Dystrophy, Patterned, 3

UniProtKB/Swiss-Prot genetic disease variations for Macular Dystrophy, Patterned, 3:

75
# Symbol AA change Variation ID SNP ID
1 MAPKAPK3 p.Leu173Pro VAR_077085 rs886037913

ClinVar genetic disease variations for Macular Dystrophy, Patterned, 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MAPKAPK3 NM_001243926.1(MAPKAPK3): c.518T> C (p.Leu173Pro) single nucleotide variant Pathogenic rs886037913 GRCh37 Chromosome 3, 50681853: 50681853
2 MAPKAPK3 NM_001243926.1(MAPKAPK3): c.518T> C (p.Leu173Pro) single nucleotide variant Pathogenic rs886037913 GRCh38 Chromosome 3, 50644422: 50644422

Expression for Macular Dystrophy, Patterned, 3

Search GEO for disease gene expression data for Macular Dystrophy, Patterned, 3.

Pathways for Macular Dystrophy, Patterned, 3

GO Terms for Macular Dystrophy, Patterned, 3

Biological processes related to Macular Dystrophy, Patterned, 3 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 Macular Dystrophy, Patterned, 3

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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