Aland Island Eye Disease malady
Categories: Genetic diseases, Rare diseases, Eye diseases
Aliases & Descriptions for Aland Island Eye Disease:
Orphanet epidemiological data:51
forsius-eriksson type ocular albinism:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy
aland island eye disease:
Inheritance: x-linked inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Rare eye diseases
OMIM:49 Aland Island eye disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation,... (300600) more...
MalaCards based summary: Aland Island Eye Disease, also known as forsius-eriksson type ocular albinism, is related to androgen insensitivity and amelogenesis imperfecta, and has symptoms including hypoplasia of the fovea, abnormality of metabolism/homeostasis and severe visual impairment. An important gene associated with Aland Island Eye Disease is CACNA1F (Calcium Voltage-Gated Channel Subunit Alpha1 F), and among its related pathways is G-protein signaling_K-RAS regulation pathway. Affiliated tissues include eye and endothelial.
UniProtKB/Swiss-Prot:67 Aaland island eye disease: A retinal disease characterized by a combination of fundus hypopigmentation, decreased visual acuity due to foveal hypoplasia, nystagmus, astigmatism, protan color vision defect, myopia, and defective dark adaptation. Except for progression of axial myopia, the disease can be considered to be a stationary condition. Electroretinography reveals abnormalities in both photopic and scotopic functions.
HPO human phenotypes related to Aland Island Eye Disease:(show all 7)
MalaCards organs/tissues related to Aland Island Eye Disease:33
Articles related to Aland Island Eye Disease:
UniProtKB/Swiss-Prot genetic disease variations for Aland Island Eye Disease:67
Clinvar genetic disease variations for Aland Island Eye Disease:5
Search GEO for disease gene expression data for Aland Island Eye Disease.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet