MCID: ALN001
MIFTS: 39

Aland Island Eye Disease

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Aland Island Eye Disease

MalaCards integrated aliases for Aland Island Eye Disease:

Name: Aland Island Eye Disease 53 12 49 71 36 13 14
Forsius-Eriksson Type Ocular Albinism 53 12 55 71
Aied 53 49 55 71
Forsius-Eriksson Syndrome 12 55
Forsius Eriksson Type Ocular Albinism 49
Åland Islands Eye Disease 55
Aaland Island Eye Disease 71
Ocular Albinism, Type Ii 69
Abnormality of Vision 28
Vision Disorders 41

Characteristics:

Orphanet epidemiological data:

55
Åland islands eye disease
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
x-linked


HPO:

31
aland island eye disease:
Inheritance x-linked inheritance


Classifications:

Orphanet: 55  
Rare eye diseases


External Ids:

OMIM 53 300600
Disease Ontology 12 DOID:0050630
Orphanet 55 ORPHA178333
UMLS via Orphanet 70 C0268505
ICD10 via Orphanet 33 H35.5
MedGen 39 C0268505
MeSH 41 D014786
KEGG 36 H00690
UMLS 69 C0268505

Summaries for Aland Island Eye Disease

OMIM : 53 Aland Island eye disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, protan color vision defect (303900), progressive myopia, and defective dark adaptation. Although AIED has been referred to as a form of albinism, there is no misrouting of the optic nerves, which excludes it from the formal diagnosis of classic albinism (King et al., 2001). (300600)

MalaCards based summary : Aland Island Eye Disease, also known as forsius-eriksson type ocular albinism, is related to glycerol kinase deficiency and congenital stationary night blindness, and has symptoms including nystagmus, abnormal electroretinogram and myopia. An important gene associated with Aland Island Eye Disease is CACNA1F (Calcium Voltage-Gated Channel Subunit Alpha1 F). Affiliated tissues include eye.

UniProtKB/Swiss-Prot : 71 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.

Related Diseases for Aland Island Eye Disease

Diseases related to Aland Island Eye Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 182)
# Related Disease Score Top Affiliating Genes
1 glycerol kinase deficiency 30.3 DMD GK
2 congenital stationary night blindness 28.5 CACNA1F NYX OED PRICKLE3 RPE65 ZNF182
3 amelogenesis imperfecta 11.8
4 autoimmune inner ear disease 11.8
5 androgen insensitivity syndrome 11.5
6 scoliosis, isolated 1 11.4
7 hereditary amyloidosis 11.2
8 aortic valve insufficiency 11.2
9 pediatric arterial ischemic stroke 11.0
10 amelogenesis imperfecta, type ib 11.0
11 salt and pepper developmental regression syndrome 10.9
12 jalili syndrome 10.8
13 amelogenesis imperfecta, type ie 10.8
14 amelogenesis imperfecta, type ij 10.8
15 alzheimer disease 10.6
16 blue cone monochromacy 10.4
17 achromatopsia 10.4
18 eales disease 10.4
19 x-linked congenital stationary night blindness 10.3 CACNA1F NYX
20 night blindness, congenital stationary, type 2a 10.3 CACNA1F NYX
21 night blindness, congenital stationary, type 1e 10.3 CACNA1F NYX
22 adrenal hypoplasia, congenital 10.3 DMD GK
23 hereditary night blindness 10.2 CACNA1F NYX
24 cerebritis 10.2
25 amyloidosis 10.2
26 neuronitis 10.2
27 muscular dystrophy, duchenne type 10.2
28 muscular dystrophy 10.2
29 retinoschisis 1, x-linked, juvenile 10.2 CACNA1F NYX RPE65
30 achromatopsia 3 10.2 CACNA1F NYX RPE65
31 aging 10.1
32 adenocarcinoma 10.1
33 retinal disease 10.1 CACNA1F NYX RPE65
34 adenocarcinoma in situ 10.1
35 cerebral amyloid angiopathy, cst3-related 10.1
36 arteries, anomalies of 10.1
37 dementia 10.1
38 ocular albinism 10.0
39 night blindness 10.0
40 albinism 10.0
41 coronary artery anomaly 10.0
42 muscular dystrophy, becker type 10.0 DMD GK
43 scoliosis 10.0
44 idiopathic scoliosis 10.0
45 endotheliitis 10.0
46 diabetes mellitus 9.9
47 neuroblastoma 9.9
48 mental retardation, x-linked, syndromic, snyder-robinson type 9.9
49 blood group, i system 9.9
50 inclusion body myositis 9.9

Graphical network of the top 20 diseases related to Aland Island Eye Disease:



Diseases related to Aland Island Eye Disease

Symptoms & Phenotypes for Aland Island Eye Disease

Symptoms via clinical synopsis from OMIM:

53
Eyes:
nystagmus
myopia
astigmatism
foveal hypoplasia
fundus albinism
more
Lab:
no macromelanosomes on em

Misc:
slightly decreased color discrimination, and nystagmus by emg in carrier females


Clinical features from OMIM:

300600

Human phenotypes related to Aland Island Eye Disease:

55 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 abnormal electroretinogram 55 31 hallmark (90%) Very frequent (99-80%) HP:0000512
3 myopia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000545
4 reduced visual acuity 55 31 hallmark (90%) Very frequent (99-80%) HP:0007663
5 abnormality of color vision 55 31 hallmark (90%) Very frequent (99-80%) HP:0000551
6 hypopigmentation of the fundus 55 31 hallmark (90%) Very frequent (99-80%) HP:0007894
7 astigmatism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000483
8 hypoplasia of the fovea 55 31 hallmark (90%) Very frequent (99-80%) HP:0007750
9 difficulty adjusting from light to dark 55 31 hallmark (90%) Very frequent (99-80%) HP:0030513
10 abnormality of metabolism/homeostasis 31 HP:0001939
11 albinism 31 HP:0001022
12 severe visual impairment 31 HP:0001141

Drugs & Therapeutics for Aland Island Eye Disease

Search Clinical Trials , NIH Clinical Center for Aland Island Eye Disease

Cochrane evidence based reviews: vision disorders

Genetic Tests for Aland Island Eye Disease

Genetic tests related to Aland Island Eye Disease:

# Genetic test Affiliating Genes
1 Abnormality of Vision 28

Anatomical Context for Aland Island Eye Disease

MalaCards organs/tissues related to Aland Island Eye Disease:

38
Eye

Publications for Aland Island Eye Disease

Articles related to Aland Island Eye Disease:

# Title Authors Year
1
A novel CACNA1F gene mutation causes Aland Island eye disease. ( 17525176 )
2007
2
Aland island eye disease: clinical and electrophysiological studies of a Welsh family. ( 7612552 )
1995
3
Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome. ( 7907666 )
1993
4
Clinical and electroretinographic comparison between Aland Island eye disease and a newly found related disease with X-chromosomal inheritance. ( 1789083 )
1991
5
Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis. ( 1985461 )
1991
6
Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy. ( 2220819 )
1990
7
Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia. ( 2159212 )
1990
8
Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness. ( 2667510 )
1989

Variations for Aland Island Eye Disease

UniProtKB/Swiss-Prot genetic disease variations for Aland Island Eye Disease:

71
# Symbol AA change Variation ID SNP ID
1 CACNA1F p.Gly603Arg VAR_071433 rs201654095

ClinVar genetic disease variations for Aland Island Eye Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1F CACNA1F, 425-BP DEL deletion Pathogenic
2 RPE65 NM_000329.2(RPE65): c.1338+1G> A single nucleotide variant Pathogenic rs1057518922 GRCh38 Chromosome 1, 68431281: 68431281

Expression for Aland Island Eye Disease

Search GEO for disease gene expression data for Aland Island Eye Disease.

Pathways for Aland Island Eye Disease

GO Terms for Aland Island Eye Disease

Cellular components related to Aland Island Eye Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron projection terminus GO:0044306 8.62 DMD SYP

Biological processes related to Aland Island Eye Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.13 CACNA1F NYX RPE65
2 detection of light stimulus involved in visual perception GO:0050908 8.62 CACNA1F RPE65

Molecular functions related to Aland Island Eye Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.32 ARAF CACNA1F DMD PRICKLE3 PTER RPE65

Sources for Aland Island Eye Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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