KEGG   DISEASE: Aland Island eye disease
Entry
H00690                      Disease                                
Name
Aland Island eye disease;
Forsius-Eriksson syndrome
Description
Aland Island eye disease (AIED) is an X-linked form of ocular hypopigmentation. Affected males demonstrate nystagmus, decreased visual acuity, myopia, astigmatism, achromatopsia, and fundus hypopigmentation.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Disorders of the eyeball posterior segment
   Disorders of the retina
    9B7Y  Other specified disorders of the retina
     H00690  Aland Island eye disease
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06528  Calcium signaling
   H00690  Aland Island eye disease
Pathway
hsa04020  Calcium signaling pathway
Network
nt06528 Calcium signaling
Gene
CACNA1F [HSA:778] [KO:K04853]
Other DBs
ICD-11: 9B7Y
ICD-10: H35.5
MeSH: C562664
OMIM: 300600
Reference
PMID:7612552
  Authors
Hawksworth NR, Headland S, Good P, Thomas NS, Clarke A
  Title
Aland island eye disease: clinical and electrophysiological studies of a Welsh family.
  Journal
Br J Ophthalmol 79:424-30 (1995)
DOI:10.1136/bjo.79.5.424
Reference
PMID:2220819
  Authors
Pillers DA, Towbin JA, Chamberlain JS, Wu D, Ranier J, Powell BR, McCabe ER
  Title
Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy.
  Journal
Am J Hum Genet 47:795-801 (1990)
Reference
PMID:2667510
  Authors
Weleber RG, Pillers DA, Powell BR, Hanna CE, Magenis RE, Buist NR
  Title
Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness.
  Journal
Arch Ophthalmol 107:1170-9 (1989)
DOI:10.1001/archopht.1989.01070020236032
Reference
PMID:17525176
  Authors
Jalkanen R, Bech-Hansen NT, Tobias R, Sankila EM, Mantyjarvi M, Forsius H, de la Chapelle A, Alitalo T
  Title
A novel CACNA1F gene mutation causes Aland Island eye disease.
  Journal
Invest Ophthalmol Vis Sci 48:2498-502 (2007)
DOI:10.1167/iovs.06-1103

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Network (2)   
   KEGG NETWORK (1)   
   KEGG VARIANT (1)   
Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (4)   
   PubMed (4)   
All databases (9)   

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