MCID: ALN001
MIFTS: 32

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 androgen insensitivity and amelogenesis imperfecta, 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 and endothelial.

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 all 41)
idRelated DiseaseScoreTop Affiliating Genes
1androgen insensitivity11.9
2amelogenesis imperfecta11.6
3autoimmune inner ear disease11.6
4pediatric arterial ischemic stroke11.4
5amish infantile epilepsy syndrome11.3
6adolescent idiopathic scoliosis11.3
7amelogenesis imperfecta, type ib10.4
8cone-rod dystropy, x-linked, 310.4CACNA1F, OA2
9aland island eye disease10.4CACNA1F, OA2
10rheumatoid arthritis10.4
11hiv-110.4
12coronary artery disease10.4
13arthritis10.4
14bronchopulmonary dysplasia10.4
15artery disease10.4
16cardiac sarcoidosis10.4
17prostatitis10.4
18prostate adenocarcinoma10.4
19adenocarcinoma10.4
20norrie disease10.4CACNA1F, NYX
21breast cancer10.3
22renal cysts and diabetes syndrome10.3CACNA1F, NYX
23x-linked juvenile retinoschisis10.3CACNA1F, NYX
24x-linked congenital stationary night blindness10.3DMD, GK
25amelogenesis imperfecta, type 1e10.3
26aortic valve insufficiency10.3
27hereditary amyloidosis10.3
28leukemia10.2
29hepatitis10.2
30melanoma10.2
31night blindness10.1CACNA1F, NYX
32becker muscular dystrophy10.1DMD, GK, OTC
33spinal muscular atrophy, x-linked 2, infantile10.1RP2, TIMP1
34deafness, x-linked 310.1DMD, GK
35embryonal testis carcinoma10.0CACNA1F, NDP, NYX
36adult pineal parenchymal tumor10.0PTER, SYP
37mental retardation, x-linked, syndromic, hedera type9.9DMD, GK, OTC, PTER
38opitz-gbbb syndrome9.8DMD, SYP, ZNF41, ZNF81
39exudative vitreoretinopathy9.6CACNA1F, NYX, OED, PRICKLE3, ZNF41
40sacrococcygeal teratoma9.5CACNA1F, NYX, OTC, RP2, TIMP1
41thrombocytopenia, x-linked, with or without dyserythropoietic anemia6.8ARAF, CACNA1F, DMD, GK, NDP, NYX

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, Endothelial

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
Duration of anticoagulation for the management of venous thromboembolism in inflammatory bowel disease: a decision analysis. (23857476)
2013
2
Serum-level changes of vascular endothelial growth factor in children with infantile hemangioma after oral propranolol therapy. (23909679)
2013
3
Herpes gestationis in a mother and newborn: immunoclinical perspectives based on a weekly follow-up of the enzyme-linked immunosorbent assay index of a bullous pemphigoid antigen noncollagenous domain. (17875879)
2007
4
Use of magnetic resonance cholangiopancreatography to diagnose neonatal congenital choledochal cyst. (16037836)
2005
5
Elevated endothelin-1 in tubular epithelium is associated with renal allograft rejection. (10977786)
2000
6
Effect of intraperitoneal antimicrobials on the concentration of bacteria, endotoxin, and tumor necrosis factor in abdominal fluid and plasma in rats. (8880124)
1996
7
Monoamine regulation of prolactin and TSH secretion in hypothyroidism. (1519463)
1992
8
Complex formation between macromolecules and drugs. 3. A study of the influence of ionic strength and pH. Binding between Aptin, nortriptyline, sulfamethizole or tripelenamine and serum albumin, poly-arginine, poly-lysine, poly-ornithine, protamine or dextran sulfate. (5421619)
1970

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