AIED
MCID: ALN001
MIFTS: 37

Aland Island Eye Disease (AIED) malady

Rare diseases, Eye diseases categories
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Summaries for Aland Island Eye Disease

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47OMIM, 33MalaCards
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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:47 300600

Aliases & Classifications for Aland Island Eye Disease

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Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 47OMIM, 10DISEASES, 49Orphanet, 62UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 49 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

49
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 8 9 43 47 10
forsius-eriksson type ocular albinism 8 49
forsius-eriksson syndrome 8 49
aied 43 49
forsius eriksson type ocular albinism 43
Ã…land islands eye disease 49
ocular albinism, type ii 62


External Ids:

Disease Ontology8 DOID:0050630
OMIM47 300600
ICD10 via Orphanet26 H35.5

Related Diseases for Aland Island Eye Disease

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17GeneCards, 18GeneDecks
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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:
47OMIM
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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:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Aland Island Eye Disease

Search NIH Clinical Center for Aland Island Eye Disease

Genetic Tests for Aland Island Eye Disease

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Anatomical Context for Aland Island Eye Disease

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33MalaCards
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MalaCards organs/tissues related to Aland Island Eye Disease:

33
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:
52PubMed
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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, 15Gene 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:
50PathCards, 30KEGG, 38NCBI 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 cardiomyopathy38
9.3CACNA1F, DMD

Compounds for genes affiliated with Aland Island Eye Disease

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Sources:
61Tocris Bioscience, 29IUPHAR, 45Novoseek, 11DrugBank
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Compounds related to Aland Island Eye Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1omega-conotoxin gvia61 2910.9CACNA1F, OA2
2(+-)-bay k 8644619.9OA2, CACNA1F
3nnc 55-0396 dihydrochloride619.8OA2, CACNA1F
4mibefradil dihydrochloride619.7OA2, CACNA1F
5pregabalin61 45 1111.5CACNA1F, OA2
6succinate459.3GK, DMD

GO Terms for genes affiliated with Aland Island Eye Disease

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Sources:
16Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet