AIED
MCID: ALN001
MIFTS: 37

Aland Island Eye Disease (AIED) malady

Rare diseases, Eye diseases categories

Summaries for Aland Island Eye Disease

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48OMIM, 34MalaCards
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MalaCards: Aland Island Eye Disease, also known as forsius-eriksson type ocular albinism, is related to duchenne muscular dystrophy and muscular dystrophy. An important gene associated with Aland Island Eye Disease is CACNA1F (calcium channel, voltage-dependent, L type, alpha 1F subunit), and among its related pathways is Hypertrophic cardiomyopathy (HCM). The compounds omega-conotoxin gvia and (+-)-bay k 8644 have been mentioned in the context of this disorder. Affiliated tissues include eye.

Description from OMIM:48 300600

Aliases & Classifications for Aland Island Eye Disease

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Sources:
9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 48OMIM, 11DISEASES, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 50 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

50
forsius-eriksson type ocular albinism:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

aland island eye disease 9 10 44 48 11
forsius-eriksson type ocular albinism 9 50
forsius-eriksson syndrome 9 50
aied 44 50
forsius eriksson type ocular albinism 44
Ć…land islands eye disease 50
ocular albinism, type ii 63


External Ids:

Disease Ontology9 DOID:0050630
OMIM48 300600
ICD10 via Orphanet27 H35.5

Related Diseases for Aland Island Eye Disease

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Aland Island Eye Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 118)
idRelated DiseaseScoreTop Affiliating Genes
1duchenne muscular dystrophy30.7GK, DMD
2muscular dystrophy30.7GK, DMD
3congenital stationary night blindness30.6NYX, CACNA1F
4night blindness30.5NYX, RP2, CACNA1F
5eye disease10.8
6alzheimer's disease10.7
7amyloidosis10.5
8cerebritis10.5
9atherosclerosis10.5
10memory impairment10.5
11artery disease10.4
12coronary artery disease10.4
13amelogenesis imperfecta10.4
14neuronitis10.4
15androgen insensitivity syndrome10.4
16dementia10.4
17adenocarcinoma10.3
18ocular albinism10.3
19albinism10.3
20blindness10.3
21adenocarcinoma in situ10.3
22diabetes mellitus10.3
23familial renal amyloidosis due to apolipoprotein ai variant10.3
24cerebral amyloid angiopathy10.2
25inclusion body myositis10.2
26myositis10.2
27endotheliitis10.2
28endocervicitis10.2
29hepatitis10.2
30myocardial infarction10.2
31bronchioalveolar carcinoma10.1
32familial combined hyperlipidemia10.1
33breast cancer10.1
34hypertension10.1
35autoimmune inner ear disease10.1
36hereditary amyloidosis10.1
37hypercholesterolemia10.1
38hyperopia10.1CACNA1F
39astigmatism10.1CACNA1F
40dystrophinopathies10.1DMD
41cone-rod dystropy, x-linked, 310.1OA2, CACNA1F
42night blindness, congenital stationary , 2a, x-linked10.1OA2, CACNA1F
43x-linked congenital stationary night blindness10.1NYX, CACNA1F
44hereditary night blindness10.1NYX, CACNA1F
45oguchi disease 110.1CACNA1F, NYX
46hyperglycerolemia10.0GK, DMD
47x-linked adrenal hypoplasia congenita10.0GK, DMD
48peripheral artery disease10.0
49frontotemporal dementia10.0
50avian influenza10.0

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



Diseases related to aland island eye disease

Symptoms for Aland Island Eye Disease

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

300600

Clinical features from OMIM:

300600

Drugs & Therapeutics for Aland Island Eye Disease

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Aland Island Eye Disease

Search NIH Clinical Center for Aland Island Eye Disease

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Genetic Tests for Aland Island Eye Disease

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Anatomical Context for Aland Island Eye Disease

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34MalaCards
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MalaCards organs/tissues related to Aland Island Eye Disease:

34
Eye

Animal Models for Aland Island Eye Disease or affiliated genes

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Publications for Aland Island Eye Disease

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Sources:
53PubMed
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Articles related to Aland Island Eye Disease:

idTitleAuthorsYear
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
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
7
Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy. (2220819)
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

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Aland Island Eye Disease:

1
id Gene Name Type Significance SNP ID Assembly Location
1CACNA1FCACNA1F, 425-BP DELdeletionPathogenic/card/aland_island_eye_disease

Expression for genes affiliated with Aland Island Eye Disease

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Aland Island Eye Disease

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

Pathways for genes affiliated with Aland Island Eye Disease

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Sources:
51PathCards, 31KEGG, 39NCBI BioSystems Database
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Pathways related to Aland Island Eye Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy39
9.3CACNA1F, DMD

Compounds for genes affiliated with Aland Island Eye Disease

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Sources:
62Tocris Bioscience, 30IUPHAR, 46Novoseek, 12DrugBank
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Compounds related to Aland Island Eye Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1omega-conotoxin gvia62 3010.9CACNA1F, OA2
2(+-)-bay k 8644629.9OA2, CACNA1F
3nnc 55-0396 dihydrochloride629.8OA2, CACNA1F
4mibefradil dihydrochloride629.7OA2, CACNA1F
5pregabalin62 46 1211.5CACNA1F, OA2
6succinate469.3GK, DMD

GO Terms for genes affiliated with Aland Island Eye Disease

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Sources:
17Gene Ontology
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Biological processes related to Aland Island Eye Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:0076019.2CACNA1F, RP2, NYX

Products for genes affiliated with Aland Island Eye Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Aland Island Eye Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet