AIED
MCID: ALN001
MIFTS: 27

Aland Island Eye Disease (AIED) malady

Eye category

Summaries for Aland Island Eye Disease

Sources:
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 congenital stationary night blindness. 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.

Description from OMIM:47 300600

Aliases & Classifications for Aland Island Eye Disease

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

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


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
Åland islands eye disease 49
ocular albinism, type ii 61


External Ids:

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

Related Diseases for Aland Island Eye Disease

Sources:
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 110)
idRelated DiseaseScoreTop Affiliating Genes
1duchenne muscular dystrophy30.7DMD, GK
2congenital stationary night blindness30.5CACNA1F, NYX
3alzheimer's disease10.5
4amyloidosis10.5
5atherosclerosis10.5
6memory impairment10.5
7androgen insensitivity syndrome10.4
8ocular albinism10.3
9n syndrome10.3
10albinism10.3
11ocular muscular dystrophy10.3
12blindness10.3
13coronary artery disease,10.3
14amelogenesis imperfecta10.3
15adenocarcinoma10.3
16hereditary amyloidosis10.3
17familial renal amyloidosis due to apolipoprotein ai variant10.3
18inclusion body myositis10.2
19cerebral amyloid angiopathy10.2
20adenocarcinoma in situ10.2
21brain disease10.2
22lip disease10.2
23coronary heart disease10.2
24familial combined hyperlipidemia10.1
25idiopathic adolescent scoliosis10.1
26hypercholesterolemia10.1
27avian influenza10.0
28cerebral atherosclerosis10.0
29frontotemporal dementia10.0
30adult syndrome10.0
31vitiligo10.0
32familial hypercholesterolemia10.0
33aortic atherosclerosis10.0
34thalassemia10.0
35marek disease10.0
36hypertriglyceridemia10.0
37chronic thromboembolic pulmonary hypertension10.0
38hyperopia10.0CACNA1F
39astigmatism10.0CACNA1F
40cone-rod dystrophy x-linked 310.0CACNA1F, OA2
41night blindness, congenital stationary , 2a, x-linked10.0CACNA1F, OA2
42dystrophinopathies10.0DMD
43becker muscular dystrophy10.0DMD
44x-linked congenital stationary night blindness10.0CACNA1F, NYX
45oguchi disease 110.0CACNA1F, NYX
46hereditary night blindness10.0NYX, CACNA1F
47hyperglycerolemia10.0DMD, GK
48x-linked adrenal hypoplasia congenita10.0DMD, GK
49rhyns syndrome10.0DMD, RP2
50addison's disease10.0DMD, GK

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

Sources:
47OMIM
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Clinical features from OMIM:

300600

Clinical synopsis from OMIM:

300600

Drugs & Therapeutics for Aland Island Eye Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Aland Island Eye Disease

Drug clinical trials:

Search ClinicalTrials for Aland Island Eye Disease

Search NIH Clinical Center for Aland Island Eye Disease

Search CenterWatch for Aland Island Eye Disease

Genetic Tests for Aland Island Eye Disease

Anatomical Context for Aland Island Eye Disease

Animal Models for Aland Island Eye Disease or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Aland Island Eye Disease

Genetic Variations for Aland Island Eye Disease

Expression for genes affiliated with Aland Island Eye Disease

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

Compounds for genes affiliated with Aland Island Eye Disease

Sources:
60Tocris Bioscience, 45Novoseek, 11DrugBank
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Compounds related to Aland Island Eye Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1omega-conotoxin gvia6010.0OA2, CACNA1F
2(+-)-bay k 86446010.0CACNA1F, OA2
3nnc 55-0396 dihydrochloride609.9CACNA1F, OA2
4mibefradil dihydrochloride609.8CACNA1F, OA2
5succinate459.6DMD, GK
6pregabalin60 45 1111.6OA2, CACNA1F

GO Terms for genes affiliated with Aland Island Eye Disease

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:0076019.4NYX, CACNA1F, RP2

Products for genes affiliated with Aland Island Eye Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Aland Island Eye Disease

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet