Macular Dystrophy, Retinal, 2 (MCDR2)

Alias:
Retinal Macular Dystrophy Type 2
Mcdr2
Dystrophy, Macular, Retinal, Type 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Macular Dystrophy, Retinal, 2, also known as retinal macular dystrophy type 2, is related to cone-rod dystrophy 2 and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Macular Dystrophy, Retinal, 2 is PROM1 (Prominin 1). Affiliated tissues include eye and retina, and related phenotypes are reduced visual acuity and macular dystrophy
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adolescent
<1/1000000
1
7
10

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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