MCID: ALN001
MIFTS: 37

Aland Island Eye Disease malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Aland Island Eye Disease

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Aliases & Descriptions for Aland Island Eye Disease:

Name: Aland Island Eye Disease 49 10 11 45 22 12 67
Forsius-Eriksson Type Ocular Albinism 10 22 51 67
Aied 45 51 67
Forsius-Eriksson Syndrome 10 51
 
Forsius Eriksson Type Ocular Albinism 45
├ůland Islands Eye Disease 51
Aaland Island Eye Disease 67
Ocular Albinism, Type Ii 65

Characteristics:

Orphanet epidemiological data:

51
forsius-eriksson type ocular albinism:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

61
aland island eye disease:
Inheritance: x-linked inheritance


Classifications:

Orphanet: 51 
Rare eye diseases


External Ids:

OMIM49 300600
Disease Ontology10 DOID:0050630
Orphanet51 178333
ICD10 via Orphanet28 H35.5
MedGen34 C0268505
MeSH36 D014786
UMLS65 C0268505

Summaries for Aland Island Eye Disease

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OMIM:49 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 night blindness and androgen insensitivity, and has symptoms including hypoplasia of the fovea, abnormality of metabolism/homeostasis and severe visual impairment. An important gene associated with Aland Island Eye Disease is CACNA1F (Calcium Voltage-Gated Channel Subunit Alpha1 F), and among its related pathways is G-protein signaling_K-RAS regulation pathway. Affiliated tissues include eye, prostate and breast.

UniProtKB/Swiss-Prot:67 Aaland island eye disease: A retinal disease characterized by a combination of fundus hypopigmentation, decreased visual acuity due to foveal hypoplasia, nystagmus, astigmatism, protan color vision defect, myopia, and defective dark adaptation. Except for progression of axial myopia, the disease can be considered to be a stationary condition. Electroretinography reveals abnormalities in both photopic and scotopic functions.

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 122)
idRelated DiseaseScoreTop Affiliating Genes
1night blindness30.4CACNA1F, NYX
2androgen insensitivity11.7
3amelogenesis imperfecta11.5
4autoimmune inner ear disease11.4
5adolescent idiopathic scoliosis11.2
6pediatric arterial ischemic stroke11.0
7amish infantile epilepsy syndrome10.9
8cone-rod dystropy, x-linked, 310.6CACNA1F, OA2
9aland island eye disease10.6CACNA1F, OA2
10norrie disease10.5CACNA1F, NYX
11renal cysts and diabetes syndrome10.5CACNA1F, NYX
12eye disease10.5
13x-linked juvenile retinoschisis10.5CACNA1F, NYX
14x-linked congenital stationary night blindness10.4DMD, GK
15hereditary amyloidosis10.4
16cerebritis10.3
17amyloidosis10.3
18neuronitis10.2
19duchenne muscular dystrophy10.2
20muscular dystrophy10.2
21alzheimer disease10.2
22atherosclerosis10.2
23becker muscular dystrophy10.1DMD, GK, OTC
24artery disease10.1
25spinal muscular atrophy, x-linked 2, infantile10.1RP2, TIMP1
26cerebral amyloid angiopathy10.1
27coronary artery disease10.1
28dementia10.1
29adenocarcinoma10.1
30deafness, x-linked 310.1DMD, GK
31embryonal testis carcinoma10.1CACNA1F, NDP, NYX
32adenocarcinoma in situ10.1
33glycerol kinase deficiency10.0
34congenital stationary night blindness10.0
35ocular albinism10.0
36albinism10.0
37endotheliitis10.0
38amelogenesis imperfecta, type ib10.0
39scoliosis10.0
40idiopathic scoliosis10.0
41adult pineal parenchymal tumor9.9PTER, SYP
42inclusion body myositis9.9
43myositis9.9
44myocardial infarction9.9
45hepatitis9.9
46endocervical adenocarcinoma9.9
47heart disease9.9
48endocervicitis9.9
49amelogenesis imperfecta, type 1e9.9
50aortic valve insufficiency9.9

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

Drugs & Therapeutics for Aland Island Eye Disease

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Aland Island Eye Disease

Genetic Tests for Aland Island Eye Disease

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Genetic tests related to Aland Island Eye Disease:

id Genetic test Affiliating Genes
1 Aland Island Eye Disease22 CACNA1F

Anatomical Context for Aland Island Eye Disease

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MalaCards organs/tissues related to Aland Island Eye Disease:

33
Eye, Prostate, Breast, Testis, Endothelial, Pineal

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:

67
id Symbol AA change Variation ID SNP ID
1CACNA1Fp.Gly603ArgVAR_071433

Clinvar genetic disease variations for Aland Island Eye Disease:

5
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 pathwaysScoreTop Affiliating Genes
19.2ARAF, TIMP1

GO Terms for genes affiliated with Aland Island Eye Disease

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Sources for Aland Island Eye Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet