AIED
MCID: ALN001
MIFTS: 38

Aland Island Eye Disease (AIED)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Aland Island Eye Disease

MalaCards integrated aliases for Aland Island Eye Disease:

Name: Aland Island Eye Disease 58 12 54 76 38 13 45 15 41
Forsius-Eriksson Type Ocular Albinism 58 12 60 76
Aied 58 54 60 76
Forsius-Eriksson Syndrome 12 60
Forsius Eriksson Type Ocular Albinism 54
Åland Islands Eye Disease 60
Aaland Island Eye Disease 76
Ocular Albinism, Type Ii 74
Vision Disorders 45

Characteristics:

Orphanet epidemiological data:

60
Åland islands eye disease
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
x-linked


HPO:

33
aland island eye disease:
Inheritance x-linked inheritance


Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0050630
OMIM 58 300600
KEGG 38 H00690
ICD10 via Orphanet 35 H35.5
UMLS via Orphanet 75 C0268505
Orphanet 60 ORPHA178333
MedGen 43 C0268505
UMLS 74 C0268505

Summaries for Aland Island Eye Disease

OMIM : 58 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 achromatopsia and night blindness. An important gene associated with Aland Island Eye Disease is CACNA1F (Calcium Voltage-Gated Channel Subunit Alpha1 F). Affiliated tissues include eye, and related phenotypes are nystagmus and abnormal electroretinogram

Disease Ontology : 12 An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has material basis in mutation in the CACNA1F gene.

UniProtKB/Swiss-Prot : 76 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 213)
# Related Disease Score Top Affiliating Genes
1 achromatopsia 31.1 CACNA1F NYX RPE65
2 night blindness 30.4 CACNA1F NYX RPE65
3 glycerol kinase deficiency 30.4 DMD GK OTC
4 congenital stationary night blindness 29.3 CACNA1F NYX OED PRICKLE3 RPE65 ZNF182
5 androgen insensitivity syndrome 12.0
6 amelogenesis imperfecta 12.0
7 autoimmune inner ear disease 11.9
8 scoliosis, isolated 1 11.7
9 hereditary amyloidosis 11.3
10 aortic valve insufficiency 11.3
11 childhood-onset cerebral x-linked adrenoleukodystrophy 11.3
12 pediatric arterial ischemic stroke 11.2
13 amelogenesis imperfecta, type ib 11.2
14 salt and pepper developmental regression syndrome 11.0
15 jalili syndrome 11.0
16 amelogenesis imperfecta, type ie 11.0
17 amelogenesis imperfecta, type ij 11.0
18 alzheimer disease 10.8
19 neurofibromatosis, type i 10.6
20 neurofibromatosis, type iv, of riccardi 10.6
21 blue cone monochromacy 10.6
22 eales disease 10.6
23 scoliosis 10.6
24 idiopathic scoliosis 10.6
25 amyloidosis 10.4
26 muscular dystrophy, duchenne type 10.3
27 muscular dystrophy 10.3
28 adenocarcinoma 10.3
29 x-linked congenital stationary night blindness 10.3 CACNA1F NYX
30 dementia 10.2
31 adrenal hypoplasia, congenital 10.2 DMD GK
32 night blindness, congenital stationary, type 2a 10.2 CACNA1F NYX
33 adenocarcinoma in situ 10.2
34 cerebral amyloid angiopathy, cst3-related 10.2
35 arteries, anomalies of 10.2
36 night blindness, congenital stationary, type 1e 10.2 CACNA1F NYX
37 coronary artery anomaly 10.2
38 muscular dystrophy, becker type 10.2 DMD GK
39 oguchi disease 10.2 CACNA1F NYX
40 ocular albinism 10.1
41 albinism 10.1
42 diabetes mellitus 10.1
43 achromatopsia 3 10.1 CACNA1F NYX RPE65
44 retinal disease 10.1 CACNA1F NYX RPE65
45 neuroblastoma 10.1
46 avian influenza 10.1
47 influenza 10.1
48 depression 10.1
49 breast cancer 10.0
50 inclusion body myositis 10.0

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

Human phenotypes related to Aland Island Eye Disease:

60 33 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000639
2 abnormal electroretinogram 60 33 hallmark (90%) Very frequent (99-80%) HP:0000512
3 myopia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000545
4 reduced visual acuity 60 33 hallmark (90%) Very frequent (99-80%) HP:0007663
5 abnormality of color vision 60 33 hallmark (90%) Very frequent (99-80%) HP:0000551
6 hypopigmentation of the fundus 60 33 hallmark (90%) Very frequent (99-80%) HP:0007894
7 astigmatism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000483
8 hypoplasia of the fovea 60 33 hallmark (90%) Very frequent (99-80%) HP:0007750
9 difficulty adjusting from light to dark 60 33 hallmark (90%) Very frequent (99-80%) HP:0030513
10 abnormality of metabolism/homeostasis 33 HP:0001939
11 albinism 33 HP:0001022
12 severely reduced visual acuity 33 HP:0001141

Symptoms via clinical synopsis from OMIM:

58
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

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

Anatomical Context for Aland Island Eye Disease

MalaCards organs/tissues related to Aland Island Eye Disease:

42
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
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:

76
# Symbol AA change Variation ID SNP ID
1 CACNA1F p.Gly603Arg VAR_071433 rs201654095

ClinVar genetic disease variations for Aland Island Eye Disease:

6 (show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 NF1 NM_001042492.2(NF1): c.1987G> A (p.Gly663Arg) single nucleotide variant Uncertain significance rs140653372 GRCh38 Chromosome 17, 31225236: 31225236
2 NF1 NM_001042492.2(NF1): c.1987G> A (p.Gly663Arg) single nucleotide variant Uncertain significance rs140653372 GRCh37 Chromosome 17, 29552254: 29552254
3 CACNA1F CACNA1F, 425-BP DEL deletion Pathogenic
4 46;X;t(Y;3)(p11.2;p12.3)dn Translocation Likely pathogenic
5 Translocation Likely pathogenic
6 RPE65 NM_000329.2(RPE65): c.1338+1G> A single nucleotide variant Pathogenic rs1057518922 GRCh37 Chromosome 1, 68896964: 68896964
7 RPE65 NM_000329.2(RPE65): c.1338+1G> A single nucleotide variant Pathogenic rs1057518922 GRCh38 Chromosome 1, 68431281: 68431281
8 PRR12 NM_020719.2(PRR12): c.1918G> T (p.Glu640Ter) single nucleotide variant Pathogenic rs1555740650 GRCh38 Chromosome 19, 49596253: 49596253
9 PRR12 NM_020719.2(PRR12): c.1918G> T (p.Glu640Ter) single nucleotide variant Pathogenic rs1555740650 GRCh37 Chromosome 19, 50099510: 50099510
10 PRR12 NM_020719.2(PRR12): c.4502_4505delTGCC (p.Leu1501Argfs) deletion Pathogenic rs1555741826 GRCh37 Chromosome 19, 50104904: 50104907
11 PRR12 NM_020719.2(PRR12): c.4502_4505delTGCC (p.Leu1501Argfs) deletion Pathogenic rs1555741826 GRCh38 Chromosome 19, 49601647: 49601650
12 PRR12 NM_020719.2(PRR12): c.899_900insCCCACCA (p.Pro304Thrfs) insertion Pathogenic rs1555740394 GRCh38 Chromosome 19, 49595234: 49595235
13 PRR12 NM_020719.2(PRR12): c.899_900insCCCACCA (p.Pro304Thrfs) insertion Pathogenic rs1555740394 GRCh37 Chromosome 19, 50098491: 50098492
14 TOPORS NM_005802.4(TOPORS): c.2666A> G (p.His889Arg) single nucleotide variant Uncertain significance rs762457246 GRCh37 Chromosome 9, 32541857: 32541857
15 TOPORS NM_005802.4(TOPORS): c.2666A> G (p.His889Arg) single nucleotide variant Uncertain significance rs762457246 GRCh38 Chromosome 9, 32541859: 32541859
16 NF1 NM_000267.3(NF1): c.4172G> C (p.Arg1391Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1555618516 GRCh38 Chromosome 17, 31258405: 31258405
17 NF1 NM_000267.3(NF1): c.4172G> C (p.Arg1391Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1555618516 GRCh37 Chromosome 17, 29585423: 29585423
18 CACNA1F NM_001256789.2(CACNA1F): c.1108G> A (p.Val370Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 49084508: 49084508
19 CACNA1F NM_001256789.2(CACNA1F): c.1108G> A (p.Val370Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 49228046: 49228046

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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