AIED
MCID: ALN001
MIFTS: 38

Aland Island Eye Disease (AIED) malady

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

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MalaCards based summary: Aland Island Eye Disease, also known as forsius-eriksson type ocular albinism, is related to congenital stationary night blindness and duchenne muscular dystrophy, and has symptoms including 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:46 300600

Aliases & Classifications for Aland Island Eye Disease

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Aland Island Eye Disease, Aliases & Descriptions:

Name: Aland Island Eye Disease 8 9 42 46 10
Forsius-Eriksson Type Ocular Albinism 8 48 62
Forsius-Eriksson Syndrome 8 48 62
Aied 42 48
 
Forsius Eriksson Type Ocular Albinism 42
Ã…land Islands Eye Disease 48
Ocular Albinism, Type Ii 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 48 
Rare 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


External Ids:

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

Related Diseases for Aland Island Eye Disease

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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 124)
idRelated DiseaseScoreTop Affiliating Genes
1congenital stationary night blindness30.8NYX, CACNA1F
2duchenne muscular dystrophy30.8GK, DMD
3muscular dystrophy30.6GK, DMD
4night blindness30.5NYX, RP2, CACNA1F
5alzheimer's disease10.8
6eye disease10.8
7amyloidosis10.6
8cerebritis10.5
9atherosclerosis10.5
10memory impairment10.5
11neuronitis10.4
12artery disease10.4
13amelogenesis imperfecta10.4
14dementia10.4
15hyperopia10.4CACNA1F
16astigmatism10.4CACNA1F
17androgen insensitivity syndrome10.3
18adenocarcinoma10.3
19ocular albinism10.3
20albinism10.3
21blindness10.3
22adenocarcinoma in situ10.3
23dystrophinopathies10.3DMD
24cone-rod dystropy, x-linked, 310.3OA2, CACNA1F
25night blindness, congenital stationary , 2a, x-linked10.3OA2, CACNA1F
26diabetes mellitus10.3
27familial renal amyloidosis due to apolipoprotein ai variant10.3
28x-linked congenital stationary night blindness10.3NYX, CACNA1F
29hereditary night blindness10.2NYX, CACNA1F
30oguchi disease 110.2CACNA1F, NYX
31cerebral amyloid angiopathy10.2
32inclusion body myositis10.2
33myositis10.2
34endotheliitis10.2
35hepatitis10.2
36myocardial infarction10.2
37endocervicitis10.2
38endocervical adenocarcinoma10.2
39autoimmune inner ear disease10.2
40hyperglycerolemia10.2GK, DMD
41x-linked adrenal hypoplasia congenita10.2GK, DMD
42becker muscular dystrophy10.1GK, DMD
43hypertension10.1
44in situ pulmonary adenocarcinoma10.1
45breast cancer10.1
46adolescent idiopathic scoliosis10.1
47hereditary amyloidosis10.1
48hypercholesterolemia10.1
49mental retardation10.1DMD, GK
50addison's disease10.1GK, DMD

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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Symptoms by clinical synopsis from OMIM:

300600

Clinical features from OMIM:

300600

HPO human phenotypes related to Aland Island Eye Disease:

(show all 8)
id Description Frequency HPO Source Accession
1 astigmatism HP:0000483
2 myopia HP:0000545
3 nystagmus HP:0000639
4 albinism HP:0001022
5 severe visual impairment HP:0001141
6 x-linked inheritance HP:0001417
7 abnormality of metabolism/homeostasis HP:0001939
8 hypoplasia of the fovea HP:0007750

Drugs & Therapeutics for Aland Island Eye Disease

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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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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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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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UniProtKB/Swiss-Prot genetic disease variations for Aland Island Eye Disease:

64
id Symbol AA change Variation ID SNP ID
1CACNA1Fp.Gly603ArgVAR_071433

Clinvar genetic disease variations for Aland Island Eye Disease:

6
id Gene Name Type Significance SNP ID Assembly Location
1CACNA1FCACNA1F, 425-BP DELdeletionPathogenic

Expression for genes affiliated with Aland Island Eye Disease

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Expression patterns in normal tissues for genes affiliated with Aland Island Eye Disease

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Pathways for genes affiliated with Aland Island Eye Disease

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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 cardiomyopathy37
9.3CACNA1F, DMD

Compounds for genes affiliated with Aland Island Eye Disease

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Compounds related to Aland Island Eye Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1omega-conotoxin gvia61 2810.9CACNA1F, OA2
2(+-)-bay k 8644619.9OA2, CACNA1F
3nnc 55-0396 dihydrochloride619.8OA2, CACNA1F
4mibefradil dihydrochloride619.7OA2, CACNA1F
5pregabalin61 44 1111.5CACNA1F, OA2
6succinate449.3GK, DMD

GO Terms for genes affiliated with Aland Island Eye Disease

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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
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet