MDPT3
MCID: MCL070
MIFTS: 28

Macular Dystrophy, Patterned, 3 (MDPT3)

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

Aliases & Classifications for Macular Dystrophy, Patterned, 3

MalaCards integrated aliases for Macular Dystrophy, Patterned, 3:

Name: Macular Dystrophy, Patterned, 3 57 72 29 6
Martinique Crinkled Retinal Pigment Epitheliopathy 57 12 58 72
Mdpt3 57 12 72
Patterned Macular Dystrophy 3 12 15
Mcrpe 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
macular dystrophy, patterned, 3:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060865
OMIM® 57 617111
OMIM Phenotypic Series 57 PS169150
MeSH 44 D058499
ICD10 via Orphanet 33 H35.5
Orphanet 58 ORPHA466718

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) (Updated 05-Apr-2021)

MalaCards based summary : Macular Dystrophy, Patterned, 3, also known as martinique crinkled retinal pigment epitheliopathy, is related to fundus dystrophy and inherited retinal disorder. An important gene associated with Macular Dystrophy, Patterned, 3 is MAPKAPK3 (MAPK 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 retina, and related phenotypes are choroidal neovascularization and reduced visual acuity

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.

UniProtKB/Swiss-Prot : 72 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.

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 fundus dystrophy 10.4
2 inherited retinal disorder 10.4
3 patterned macular dystrophy 9.1 VEGFA MAPKAPK3 ALLC

Symptoms & Phenotypes for Macular Dystrophy, Patterned, 3

Human phenotypes related to Macular Dystrophy, Patterned, 3:

31
# Description HPO Frequency HPO Source Accession
1 choroidal neovascularization 31 very rare (1%) HP:0011506
2 reduced visual acuity 31 HP:0007663
3 rod-cone dystrophy 31 HP:0000510
4 macular atrophy 31 HP:0007401

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
choroidal neovascularization (in some patients)
'dry desert land' pattern in fundus
reduced visual acuity (in older patients)
polypoid choroidal vasculopathy (in some patients)
macular atrophy and/or fibrous scarring (in older patients)
more

Clinical features from OMIM®:

617111 (Updated 05-Apr-2021)

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

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

Genetic tests related to Macular Dystrophy, Patterned, 3:

# Genetic test Affiliating Genes
1 Macular Dystrophy, Patterned, 3 29 MAPKAPK3

Anatomical Context for Macular Dystrophy, Patterned, 3

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

40
Eye, Retina

Publications for Macular Dystrophy, Patterned, 3

Articles related to Macular Dystrophy, Patterned, 3:

# Title Authors PMID Year
1
A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium. 61 57 6
26744326 2016
2
Martinique (West Indies) crinkled retinal pigment epitheliopathy: clinical description. 57 61
23370609 2013
3
[Martinique crinkled retinal pigment epitheliopathy (MCRPE): A case report]. 61
30955902 2019
4
Martinique Crinkled Retinal Pigment Epitheliopathy: Clinical Stages and Pathophysiologic Insights. 61
27474146 2016

Variations for Macular Dystrophy, Patterned, 3

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MAPKAPK3 NM_001243925.2(MAPKAPK3):c.518T>C (p.Leu173Pro) SNV Pathogenic 254177 rs886037913 GRCh37: 3:50681853-50681853
GRCh38: 3:50644422-50644422

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

72
# Symbol AA change Variation ID SNP ID
1 MAPKAPK3 p.Leu173Pro VAR_077085 rs886037913

Expression for Macular Dystrophy, Patterned, 3

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

Pathways for Macular Dystrophy, Patterned, 3

Pathways related to Macular Dystrophy, Patterned, 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.92 VEGFA MAPKAPK3
2
Show member pathways
11.69 VEGFA MAPKAPK3
3
Show member pathways
11.33 VEGFA MAPKAPK3
4
Show member pathways
11.09 VEGFA MAPKAPK3

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 VEGFA MAPKAPK3

Sources for Macular Dystrophy, Patterned, 3

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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