Corneal Dystrophy, Fleck (CFD)

Alias:
Fleck Corneal Dystrophy
Fcd
Francois-Neetens Speckled Corneal Dystrophy
Corneal Fleck Dystrophy
Cfd
Corneal Dystrophy, Francois-Neetens Speckled or Flecked
Corneal Dystrophy Francois-Neetens Speckled or Flecked
Dystrophy, Corneal, Fleck
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Corneal Dystrophy, Fleck, also known as fleck corneal dystrophy, is related to focal cortical dysplasia, type ii and isolated focal cortical dysplasia type ii. An important gene associated with Corneal Dystrophy, Fleck is PIKFYVE (Phosphoinositide Kinase, FYVE-Type Zinc Finger Containing), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and Pleural mesothelioma. Affiliated tissues include eye, and related phenotypes are photophobia and speckled corneal dystrophy
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
All ages
<1/1000000
21
176
11

Medical Symptom

#
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

Title
PMID
Journal
Year
IF
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