MCID: ALN001
MIFTS: 37

Aland Island Eye Disease malady

Genetic diseases, Rare diseases, Eye diseases categories

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 51 67
Aied 45 51 67
Forsius Eriksson Type Ocular Albinism 45 22
 
Forsius-Eriksson Syndrome 10 51
├ůland Islands Eye Disease 51
Aaland Island Eye Disease 67
Ocular Albinism, Type Ii 65


Classifications:

Orphanet: 51 
Rare eye diseases


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


External Ids:

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

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 eye disease and amyloidosis, 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 G-protein signaling_K-RAS regulation pathway. Affiliated tissues include eye.

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 247)
idRelated DiseaseScoreTop Affiliating Genes
1eye disease10.8
2amyloidosis10.6
3breast cancer10.5
4cerebritis10.5
5duchenne muscular dystrophy10.5
6muscular dystrophy10.5
7atherosclerosis10.5
8neuronitis10.5
9li-fraumeni syndrome10.4
10breast disease10.4
11alzheimer disease10.4
12artery disease10.4
13adolescent idiopathic scoliosis10.4
14coronary artery disease10.4
15idiopathic scoliosis10.4
16female breast carcinoma10.4
17dementia10.4
18scoliosis10.4
19androgen insensitivity10.4
20amelogenesis imperfecta10.4
21adenocarcinoma10.4
22glycerol kinase deficiency10.4
23ocular albinism10.4
24congenital stationary night blindness10.4
25night blindness10.4
26albinism10.4
27cerebral amyloid angiopathy10.3
28adenocarcinoma in situ10.3
29endotheliitis10.3
30secondary syphilis10.3
31cone-rod dystropy, x-linked, 310.2CACNA1F, OA2
32estrogen-receptor positive breast cancer10.2
33progesterone-receptor negative breast cancer10.2
34estrogen-receptor negative breast cancer10.2
35inclusion body myositis10.2
36bilateral breast cancer10.2
37myositis10.2
38skin benign neoplasm10.2
39aapoai amyloidosis10.2
40aland island eye disease10.2CACNA1F, OA2
41myocardial infarction10.2
42hepatitis10.2
43endocervicitis10.2
44endocervical adenocarcinoma10.2
45x-linked juvenile retinoschisis10.2CACNA1F, NYX
46deafness, x-linked 310.1DMD, GK, OED
47hydrops of gallbladder10.1CACNA1F, NYX
48neuroblastoma10.1
49osteoporosis10.1
50hematologic cancer10.1

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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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

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 pathways (with members indented)ScoreTop Affiliating Genes
19.2ARAF, TIMP1

GO Terms for genes affiliated with Aland Island Eye Disease

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

idNameGO IDScoreTop Affiliating Genes
1neuron projection terminusGO:00443069.8DMD, SYP

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

idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:00076019.3CACNA1F, NDP, NYX, RP2

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