Aland Island Eye Disease (AIED)

Alias:
Forsius-Eriksson Type Ocular Albinism
Aied
Forsius-Eriksson Syndrome
Ocular Albinism, Type Ii
Åland Islands Eye Disease
Aland Islands Eye Disease
Aaland Island Eye Disease
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Aland Island Eye Disease, also known as forsius-eriksson type ocular albinism, is related to night blindness, congenital stationary, type 2a and adrenal hypoplasia, congenital. An important gene associated with Aland Island Eye Disease is CACNA1F (Calcium Voltage-Gated Channel Subunit Alpha1 F), and among its related pathways/superpathways are Disturbed pathways in Duchenne Muscular Dystrophy and Type II diabetes mellitus. The drugs Interleukin 1 Receptor Antagonist Protein and Antirheumatic Agents have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related phenotypes are nystagmus and abnormal electroretinogram
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Newborn
<1/1000000
15
90
19

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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