Choroidal Dystrophy, Central Areolar, 1 (CACD1)

Alias:
Choroidal Sclerosis
Choroidal Dystrophy
Cacd
Choroidal Dystrophy, Central Areolar
Central Areolar Choroidal Dystrophy
Central Areolar Choroidal Sclerosis
Choroidal Dystrophy, Central Areolar 1
Areolar Atrophy of the Macula
Cacd1
Hereditary Chorioretinal Degeneration
Choroidal Dystrophy Central Areolar
Hereditary Degeneration of Choroid
Partial Central Choroid Dystrophy
Hereditary Choroidal Dystrophies
Generalised Choroidal Dystrophy
Degenerative Choroidopathy
Chorioretinal Degeneration
Hereditary Choroidopathy
Choroidal Degenerations
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Choroidal Dystrophy, Central Areolar, 1, also known as choroidal sclerosis, is related to cone dystrophy 3 and bietti crystalline corneoretinal dystrophy. An important gene associated with Choroidal Dystrophy, Central Areolar, 1 is GUCY2D (Guanylate Cyclase 2D, Retinal), and among its related pathways/superpathways are Olfactory Signaling Pathway and Visual phototransduction. Affiliated tissues include eye and retina, and related phenotypes are hyperautofluorescent macular lesion and full-thickness macular hole
Related ID:
MESH:C535358
ICD11:1982194744

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adult
--
33
217
8

Medical Symptom

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

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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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
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IF
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