Details of Disease

General Information of Disease (ID: DISJ457D)

Disease Name Aland island eye disease
Synonyms
land Islands eye disease; Forsius Eriksson type ocular albinism; ALAND ISLAND eye disease; FORSIUS-Eriksson type ocular albinism; AIED; Forsius-Eriksson type ocular albinism; Aland island eye disease; Forsius-Eriksson syndrome
Definition An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.
Disease Hierarchy
DISRZHHN: CACNA1F-related retinopathy
DIS3PN9X: X-linked disease
DISJ457D: Aland island eye disease
Disease Identifiers
MONDO ID
MONDO_0010371
MESH ID
C562664
UMLS CUI
C0268505
OMIM ID
300600
MedGen ID
120643
Orphanet ID
178333

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CACNA1F TTJ0SO4 Limited Genetic Variation [1]
IL1R2 TT51DEV Strong Altered Expression [2]
CACNA1F TTJ0SO4 Definitive X-linked [3]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GK OTK2YRA0 Strong Biomarker [4]
CACNA1F OTQTXNGF Definitive X-linked [3]
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References

1 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2.
2 Alternate splicing of interleukin-1 receptor type II (IL1R2) in vitro correlates with clinical glucocorticoid responsiveness in patients with AIED.PLoS One. 2009;4(4):e5293. doi: 10.1371/journal.pone.0005293. Epub 2009 Apr 29.
3 Mutations in the CACNA1F and NYX genes in British CSNBX families. Hum Mutat. 2003 Feb;21(2):169. doi: 10.1002/humu.9106.
4 Mental retardation locus in Xp21 chromosome microdeletion.Am J Med Genet. 1993 Jun 1;46(4):363-8. doi: 10.1002/ajmg.1320460404.