MCID: ALN001
MIFTS: 35

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 54 12 50 24 71 13 14
Forsius-Eriksson Type Ocular Albinism 12 24 56 71
Aied 50 56 71
Forsius-Eriksson Syndrome 12 56
Forsius Eriksson Type Ocular Albinism 50
Åland Islands Eye Disease 56
Aaland Island Eye Disease 71
Ocular Albinism, Type Ii 69
Vision Disorders 42

Characteristics:

Orphanet epidemiological data:

56
Åland islands eye disease
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
x-linked


HPO:

32
aland island eye disease:
Inheritance x-linked inheritance


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 300600
Disease Ontology 12 DOID:0050630
Orphanet 56 ORPHA178333
UMLS via Orphanet 70 C0268505
ICD10 via Orphanet 34 H35.5
MedGen 40 C0268505
MeSH 42 D014786

Summaries for Aland Island Eye Disease

OMIM : 54
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 androgen insensitivity, and has symptoms including nystagmus, myopia and reduced visual acuity. 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 131)
id Related Disease Score Top Affiliating Genes
1 glycerol kinase deficiency 30.5 DMD GK
2 androgen insensitivity 11.8
3 amelogenesis imperfecta 11.7
4 autoimmune inner ear disease 11.7
5 adolescent idiopathic scoliosis 11.1
6 hereditary amyloidosis 11.1
7 aortic valve insufficiency 11.0
8 pediatric arterial ischemic stroke 10.9
9 amelogenesis imperfecta, type ib 10.9
10 salt and pepper developmental regression syndrome 10.7
11 amelogenesis imperfecta, type ij 10.7
12 amelogenesis imperfecta, type 1e 10.7
13 jalili syndrome 10.7
14 xq28 duplication syndrome, int22h1/int22h2 mediated 10.5 CACNA1F NYX
15 renal cysts and diabetes syndrome 10.5 CACNA1F NYX
16 eye disease 10.4
17 hereditary retinal dystrophy 10.4 CACNA1F NYX
18 achromatopsia 10.3
19 eales disease 10.3
20 neurofibromatosis, type 1 10.3
21 blue cone monochromacy 10.3
22 optic atrophy 6 10.2 CACNA1F NYX RPE65
23 hereditary breast ovarian cancer 10.2 CACNA1F NYX RPE65
24 cerebritis 10.2
25 amyloidosis 10.1
26 neuronitis 10.1
27 immunodeficiency 34, mycobacteriosis, x-linked 10.1 DMD GK OTC
28 alzheimer disease 10.1
29 duchenne muscular dystrophy 10.1
30 muscular dystrophy 10.1
31 cardiomyopathy, dilated, 3b 10.1 DMD GK
32 atherosclerosis 10.0
33 adenocarcinoma 10.0
34 adenocarcinoma in situ 10.0
35 artery disease 10.0
36 dementia 10.0
37 cerebral amyloid angiopathy 10.0
38 coronary artery disease 10.0
39 endotheliitis 9.9
40 congenital stationary night blindness 9.9
41 ocular albinism 9.9
42 night blindness 9.9
43 albinism 9.9
44 scoliosis 9.9
45 idiopathic scoliosis 9.9
46 neuroblastoma 9.8
47 cervicitis 9.8
48 inclusion body myositis 9.8
49 myositis 9.8
50 myoblastoma 9.8 PTER SYP

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:

54

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:

56 32 (show all 12)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 myopia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000545
3 reduced visual acuity 56 32 hallmark (90%) Very frequent (99-80%) HP:0007663
4 astigmatism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000483
5 abnormal electroretinogram 56 32 hallmark (90%) Very frequent (99-80%) HP:0000512
6 hypopigmentation of the fundus 56 32 hallmark (90%) Very frequent (99-80%) HP:0007894
7 abnormality of color vision 56 32 hallmark (90%) Very frequent (99-80%) HP:0000551
8 hypoplasia of the fovea 56 32 hallmark (90%) Very frequent (99-80%) HP:0007750
9 difficulty adjusting from light to dark 56 32 hallmark (90%) Very frequent (99-80%) HP:0030513
10 severe visual impairment 32 HP:0001141
11 albinism 32 HP:0001022
12 abnormality of metabolism/homeostasis 32 HP:0001939

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:

id Genetic test Affiliating Genes
1 Aland Island Eye Disease 24 CACNA1F

Anatomical Context for Aland Island Eye Disease

MalaCards organs/tissues related to Aland Island Eye Disease:

39
Eye

Publications for Aland Island Eye Disease

Articles related to Aland Island Eye Disease:

id 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
Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis. ( 1985461 )
1991
5
Clinical and electroretinographic comparison between Aland Island eye disease and a newly found related disease with X-chromosomal inheritance. ( 1789083 )
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
id Symbol AA change Variation ID SNP ID
1 CACNA1F p.Gly603Arg VAR_071433 rs201654095

ClinVar genetic disease variations for Aland Island Eye Disease:

6
id 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 GRCh37 Chromosome 1, 68896964: 68896964

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:

id 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:

id 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:

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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