AIED
MCID: ALN001
MIFTS: 36

Aland Island Eye Disease (AIED) malady

Eye diseases category

Summaries for Aland Island Eye Disease

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46OMIM, 32MalaCards
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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). 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:46 300600

Aliases & Classifications for Aland Island Eye Disease

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases


Characteristics (Orphanet epidemiological data):

48
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 42 46 10
forsius-eriksson type ocular albinism 8 48
forsius-eriksson syndrome 8 48
aied 42 48
forsius eriksson type ocular albinism 42
Åland islands eye disease 48
ocular albinism, type ii 60


External Ids:

Disease Ontology8 DOID:0050630
OMIM46 300600
ICD10 via Orphanet26 H35.5

Related Diseases for Aland Island Eye Disease

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Aland Island Eye Disease:



Diseases related to aland island eye disease

Clinical Features for Aland Island Eye Disease

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46OMIM
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Clinical features from OMIM:

300600

Clinical synopsis from OMIM:

300600

Drugs & Therapeutics for Aland Island Eye Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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32MalaCards
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MalaCards organs/tissues related to Aland Island Eye Disease:

32
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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50PubMed
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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

Genetic Variations for Aland Island Eye Disease

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Expression for genes affiliated with Aland Island Eye Disease

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Sources:
1BioGPS, 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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Compounds for genes affiliated with Aland Island Eye Disease

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Sources:
59Tocris Bioscience, 44Novoseek, 11DrugBank
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Compounds related to Aland Island Eye Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1omega-conotoxin gvia5910.0OA2, CACNA1F
2(+-)-bay k 86445910.0CACNA1F, OA2
3nnc 55-0396 dihydrochloride599.9CACNA1F, OA2
4mibefradil dihydrochloride599.8CACNA1F, OA2
5succinate449.6DMD, GK
6pregabalin59 44 1111.6OA2, CACNA1F

GO Terms for genes affiliated with Aland Island Eye Disease

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16Gene Ontology
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Biological processes related to Aland Island Eye Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:0076019.4NYX, CACNA1F, RP2

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet