Macular Dystrophy, Patterned, 3 (MDPT3)

Alias:
Martinique Crinkled Retinal Pigment Epitheliopathy
Patterned Macular Dystrophy 3
Mdpt3
Mcrpe
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Macular Dystrophy, Patterned, 3, also known as martinique crinkled retinal pigment epitheliopathy, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and fundus dystrophy. An important gene associated with Macular Dystrophy, Patterned, 3 is MAPKAPK3 (MAPK Activated Protein Kinase 3). Affiliated tissues include retina and eye, and related phenotypes are choroidal neovascularization and reduced visual acuity
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adult
<1/1000000
13
74
2

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
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