MCID: ALN001
MIFTS: 37

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 57 12 53 75 37 13 15 40
Forsius-Eriksson Type Ocular Albinism 57 12 59 75
Aied 57 53 59 75
Forsius-Eriksson Syndrome 12 59
Forsius Eriksson Type Ocular Albinism 53
Åland Islands Eye Disease 59
Aaland Island Eye Disease 75
Ocular Albinism, Type Ii 73
Vision Disorders 44

Characteristics:

Orphanet epidemiological data:

59
Åland islands eye disease
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
x-linked


HPO:

32
aland island eye disease:
Inheritance x-linked inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 300600
Disease Ontology 12 DOID:0050630
Orphanet 59 ORPHA178333
ICD10 via Orphanet 34 H35.5
UMLS via Orphanet 74 C0268505
MedGen 42 C0268505
MeSH 44 D014786
KEGG 37 H00690
UMLS 73 C0268505

Summaries for Aland Island Eye Disease

OMIM : 57 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 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 astigmatism and abnormal electroretinogram

UniProtKB/Swiss-Prot : 75 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 169)
# Related Disease Score Top Affiliating Genes
1 glycerol kinase deficiency 30.6 DMD GK
2 night blindness 30.3 CACNA1F NYX RPE65
3 congenital stationary night blindness 28.1 CACNA1F NYX OED PRICKLE3 RPE65 ZNF182
4 androgen insensitivity syndrome 11.9
5 amelogenesis imperfecta 11.8
6 autoimmune inner ear disease 11.8
7 scoliosis, isolated 1 11.4
8 hereditary amyloidosis 11.2
9 aortic valve insufficiency 11.1
10 childhood-onset cerebral x-linked adrenoleukodystrophy 11.1
11 pediatric arterial ischemic stroke 11.0
12 amelogenesis imperfecta, type ib 11.0
13 salt and pepper developmental regression syndrome 10.9
14 jalili syndrome 10.8
15 amelogenesis imperfecta, type ie 10.8
16 amelogenesis imperfecta, type ij 10.8
17 alzheimer disease 10.7
18 x-linked congenital stationary night blindness 10.6 CACNA1F NYX
19 night blindness, congenital stationary, type 2a 10.6 CACNA1F NYX
20 adrenal hypoplasia, congenital 10.6 DMD GK
21 night blindness, congenital stationary, type 1e 10.6 CACNA1F NYX
22 hereditary night blindness 10.5 CACNA1F NYX
23 neurofibromatosis, type i 10.4
24 neurofibromatosis, type iv, of riccardi 10.4
25 blue cone monochromacy 10.4
26 achromatopsia 10.4
27 eales disease 10.4
28 achromatopsia 3 10.3 CACNA1F NYX RPE65
29 non-syndromic x-linked intellectual disability 10.3 ZNF41 ZNF81
30 muscular dystrophy, becker type 10.3 DMD GK
31 neuronitis 10.3
32 cerebritis 10.2
33 amyloidosis 10.2
34 retinal disease 10.2 CACNA1F NYX RPE65
35 aging 10.2
36 muscular dystrophy, duchenne type 10.2
37 muscular dystrophy 10.2
38 adenocarcinoma 10.1
39 dementia 10.1
40 adenocarcinoma in situ 10.1
41 cerebral amyloid angiopathy, cst3-related 10.1
42 arteries, anomalies of 10.1
43 scoliosis 10.1
44 idiopathic scoliosis 10.1
45 coronary artery anomaly 10.0
46 endotheliitis 10.0
47 ocular albinism 10.0
48 albinism 10.0
49 diabetes mellitus 10.0
50 depression 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

Symptoms via clinical synopsis from OMIM:

57
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:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 astigmatism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000483
2 abnormal electroretinogram 59 32 hallmark (90%) Very frequent (99-80%) HP:0000512
3 myopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000545
4 abnormality of color vision 59 32 hallmark (90%) Very frequent (99-80%) HP:0000551
5 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
6 reduced visual acuity 59 32 hallmark (90%) Very frequent (99-80%) HP:0007663
7 hypoplasia of the fovea 59 32 hallmark (90%) Very frequent (99-80%) HP:0007750
8 hypopigmentation of the fundus 59 32 hallmark (90%) Very frequent (99-80%) HP:0007894
9 difficulty adjusting from light to dark 59 32 hallmark (90%) Very frequent (99-80%) HP:0030513
10 albinism 32 HP:0001022
11 severe visual impairment 32 HP:0001141
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

Anatomical Context for Aland Island Eye Disease

MalaCards organs/tissues related to Aland Island Eye Disease:

41
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:

75
# 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 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1F CACNA1F, 425-BP DEL deletion Pathogenic
2 NF1 NM_001042492.2(NF1): c.1987G> A (p.Gly663Arg) single nucleotide variant Uncertain significance rs140653372 GRCh37 Chromosome 17, 29552254: 29552254
3 NF1 NM_001042492.2(NF1): c.1987G> A (p.Gly663Arg) single nucleotide variant Uncertain significance rs140653372 GRCh38 Chromosome 17, 31225236: 31225236
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 GRCh38 Chromosome 19, 49596253: 49596253
9 PRR12 NM_020719.2(PRR12): c.1918G> T (p.Glu640Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 50099510: 50099510
10 PRR12 NM_020719.2(PRR12): c.4502_4505delTGCC (p.Leu1501Argfs) deletion Pathogenic GRCh37 Chromosome 19, 50104904: 50104907
11 PRR12 NM_020719.2(PRR12): c.4502_4505delTGCC (p.Leu1501Argfs) deletion Pathogenic GRCh38 Chromosome 19, 49601647: 49601650
12 PRR12 NM_020719.2(PRR12): c.899_900insCCCACCA (p.Pro304Thrfs) insertion Pathogenic GRCh38 Chromosome 19, 49595234: 49595235
13 PRR12 NM_020719.2(PRR12): c.899_900insCCCACCA (p.Pro304Thrfs) insertion Pathogenic 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 Likely pathogenic GRCh38 Chromosome 17, 31258405: 31258405
17 NF1 NM_000267.3(NF1): c.4172G> C (p.Arg1391Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 29585423: 29585423

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 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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