MCID: ALN001
MIFTS: 34

Aland Island Eye Disease malady

Genetic diseases, Rare diseases, Eye diseases categories

Summaries for Aland Island Eye Disease

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OMIM:45 Aland Island eye disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation,... (300600) more...

MalaCards based summary: Aland Island Eye Disease, also known as forsius-eriksson type ocular albinism, is related to congenital stationary night blindness and glycerol kinase deficiency, and has symptoms including astigmatism, myopia and nystagmus. 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.

Aliases & Classifications for Aland Island Eye Disease

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Aland Island Eye Disease, Aliases & Descriptions:

Name: Aland Island Eye Disease 45 9 10 41 11
Forsius-Eriksson Type Ocular Albinism 9 47
Forsius-Eriksson Syndrome 9 47
Aied 41 47
 
Forsius Eriksson Type Ocular Albinism 41
├ůland Islands Eye Disease 47
Ocular Albinism, Type Ii 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 47 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

47
forsius-eriksson type ocular albinism:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM45 300600
Disease Ontology9 DOID:0050630
Orphanet47 178333
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 Suite gene sharing:

(show top 50)    (show all 113)
idRelated DiseaseScoreTop Affiliating Genes
1congenital stationary night blindness30.8NYX, CACNA1F
2glycerol kinase deficiency30.8GK, DMD
3duchenne muscular dystrophy30.7GK, DMD
4muscular dystrophy30.6GK, DMD
5night blindness30.5NYX, RP2, CACNA1F
6eye disease10.8
7amyloidosis10.6
8cerebritis10.5
9atherosclerosis10.5
10alzheimer disease10.4
11neuronitis10.4
12artery disease10.4
13amelogenesis imperfecta10.4
14dementia10.4
15hyperopia10.4CACNA1F
16coronary artery disease10.4
17astigmatism10.4CACNA1F
18androgen insensitivity10.4
19adenocarcinoma10.4
20ocular albinism10.3
21albinism10.3
22blindness10.3
23adenocarcinoma in situ10.3
24familial renal amyloidosis due to apolipoprotein ai variant10.3
25dystrophinopathies10.3DMD
26cone-rod dystropy, x-linked, 310.3OA2, CACNA1F
27night blindness, congenital stationary , 2a, x-linked10.3OA2, CACNA1F
28cerebral amyloid angiopathy10.3
29x-linked congenital stationary night blindness10.3NYX, CACNA1F
30inclusion body myositis10.3
31myositis10.3
32hereditary night blindness10.2CACNA1F, NYX
33myocardial infarction10.2
34hepatitis10.2
35endocervical adenocarcinoma10.2
36endocervicitis10.2
37endotheliitis10.2
38adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism10.2GK, DMD
39becker muscular dystrophy10.1GK, DMD
40breast cancer10.1
41idiopathic scoliosis10.1
42scoliosis10.1
43autoimmune inner ear disease10.1
44hereditary amyloidosis10.1
45mental retardation10.1DMD, GK
46addison's disease10.1GK, DMD
47hypertriglyceridemia10.1
48neuroblastoma10.1
49pulmonary hypertension10.1
50liver disease10.1

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:

31
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
Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis. (1985461)
1991
4
Clinical and electroretinographic comparison between Aland Island eye disease and a newly found related disease with X-chromosomal inheritance. (1789083)
1991
5
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
6
Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy. (2220819)
1990
7
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:

62
id Symbol AA change Variation ID SNP ID
1CACNA1Fp.Gly603ArgVAR_071433

Clinvar genetic disease variations for Aland Island Eye Disease:

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

Expression for genes affiliated with Aland Island Eye Disease

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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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Pathways related to Aland Island Eye Disease according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy36
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 Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1omega-conotoxin gvia59 2810.9CACNA1F, OA2
2(+-)-bay k 8644599.9OA2, CACNA1F
3nnc 55-0396 dihydrochloride599.8OA2, CACNA1F
4mibefradil dihydrochloride599.7OA2, CACNA1F
5pregabalin59 43 1211.5CACNA1F, OA2
6succinate439.3GK, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:00076019.2CACNA1F, RP2, NYX

Products for genes affiliated with Aland Island Eye Disease

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  • Antibodies
  • Proteins
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  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Aland Island Eye Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet