AIED
MCID: ALN001
MIFTS: 45

Aland Island Eye Disease (AIED) malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Aland Island Eye Disease

Aliases & Descriptions for Aland Island Eye Disease:

Name: Aland Island Eye Disease 54 12 50 24 66 13 14
Forsius-Eriksson Type Ocular Albinism 12 24 56 66
Aied 50 56 66
Forsius-Eriksson Syndrome 12 56
Forsius Eriksson Type Ocular Albinism 50
Åland Islands Eye Disease 56
Aaland Island Eye Disease 66
Ocular Albinism, Type Ii 69
Vision Disorders 42

Characteristics:

Orphanet epidemiological data:

56
Åland islands eye disease
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

HPO:

32
aland island eye disease:
Inheritance x-linked inheritance


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 300600
Disease Ontology 12 DOID:0050630
Orphanet 56 ORPHA178333
ICD10 via Orphanet 34 H35.5
MedGen 40 C0268505
MeSH 42 D014786

Summaries for Aland Island Eye Disease

OMIM : 54 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 duchenne muscular dystrophy and androgen insensitivity, and has symptoms including nystagmus, abnormal electroretinogram and reduced visual acuity. An important gene associated with Aland Island Eye Disease is CACNA1F (Calcium Voltage-Gated Channel Subunit Alpha1 F). The drugs Fluocinolone Acetonide and Ranibizumab have been mentioned in the context of this disorder. Affiliated tissues include eye.

UniProtKB/Swiss-Prot : 66 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

Diseases related to Aland Island Eye Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 124)
id Related Disease Score Top Affiliating Genes
1 duchenne muscular dystrophy 30.5 DMD GK
2 androgen insensitivity 11.7
3 amelogenesis imperfecta 11.7
4 autoimmune inner ear disease 11.7
5 adolescent idiopathic scoliosis 11.1
6 hereditary amyloidosis 11.1
7 pediatric arterial ischemic stroke 10.9
8 amelogenesis imperfecta, type ib 10.9
9 amish infantile epilepsy syndrome 10.7
10 aortic valve insufficiency 10.7
11 amelogenesis imperfecta, type 1e 10.7
12 eye disease 10.4
13 achromatopsia 10.3
14 blue cone monochromacy 10.3
15 eales disease 10.3
16 16p11.2 deletion syndrome 10.3 CACNA1F NYX
17 prostate cancer, hereditary, 11 10.2 CACNA1F NYX
18 cardiomyopathy, dilated, 3b 10.2 DMD GK
19 cerebritis 10.2
20 amyloidosis 10.1
21 exudative vitreoretinopathy 2, x-linked 10.1 CACNA1F NYX
22 neuronitis 10.1
23 immunodeficiency 34, mycobacteriosis, x-linked 10.1 DMD GK OTC
24 muscular dystrophy 10.1
25 alzheimer disease 10.1
26 neurodegeneration with brain iron accululation 5 10.0 RP2 TIMP1
27 atherosclerosis 10.0
28 bullous pemphigoid 10.0 CACNA1F NYX
29 adult liposarcoma 10.0 CACNA1F NDP NYX
30 artery disease 10.0
31 cerebral amyloid angiopathy 10.0
32 secondary progressive multiple sclerosis 10.0 DMD SYP ZNF41 ZNF81
33 dementia 10.0
34 thymus adenosquamous carcinoma 10.0 CACNA1F DMD GK NYX OED
35 adenocarcinoma 10.0
36 coronary artery disease 10.0
37 parkinsonism with spasticity, x-linked 9.9 DMD GK OTC PTER
38 adenocarcinoma in situ 9.9
39 endotheliitis 9.9
40 ocular albinism 9.9
41 night blindness 9.9
42 albinism 9.9
43 glycerol kinase deficiency 9.9
44 congenital stationary night blindness 9.9
45 scoliosis 9.9
46 idiopathic scoliosis 9.9
47 myositis 9.8
48 neuroblastoma 9.8
49 inclusion body myositis 9.8
50 charcot-marie-tooth disease intermediate type 9.8 CACNA1F NYX OED PRICKLE3 ZNF182 ZNF41

Graphical network of the top 20 diseases related to Aland Island Eye Disease:



Diseases related to Aland Island Eye Disease

Symptoms & Phenotypes for Aland Island Eye Disease

Symptoms by clinical synopsis from OMIM:

300600

Clinical features from OMIM:

300600

Human phenotypes related to Aland Island Eye Disease:

56 32 (show all 12)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 56 32 Very frequent (99-80%) HP:0000639
2 abnormal electroretinogram 56 32 Very frequent (99-80%) HP:0000512
3 reduced visual acuity 56 32 Very frequent (99-80%) HP:0007663
4 myopia 56 32 Very frequent (99-80%) HP:0000545
5 abnormality of color vision 56 32 Very frequent (99-80%) HP:0000551
6 astigmatism 56 32 Very frequent (99-80%) HP:0000483
7 hypoplasia of the fovea 56 32 Very frequent (99-80%) HP:0007750
8 hypopigmentation of the fundus 56 32 Very frequent (99-80%) HP:0007894
9 difficulty adjusting from light to dark 56 32 Very frequent (99-80%) HP:0030513
10 abnormality of metabolism/homeostasis 32 HP:0001939
11 severe visual impairment 32 HP:0001141
12 albinism 32 HP:0001022

Drugs & Therapeutics for Aland Island Eye Disease

Drugs for Aland Island Eye Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 1361)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4,Phase 1 67-73-2 6215
2
Ranibizumab Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 347396-82-1 459903
3
Ketorolac Approved Phase 4,Phase 2 74103-06-3, 66635-83-4 3826
4
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 83-43-2 6741
5
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-24-8 5755
6
Fluoxetine Approved, Vet_approved Phase 4,Phase 3,Phase 2 54910-89-3 3386
7
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
8
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 124-94-7 31307
9
Bimatoprost Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 155206-00-1 5311027
10
Latanoprost Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 130209-82-4 5282380 5311221
11
Timolol Approved Phase 4,Phase 3,Phase 1,Phase 2 26839-75-8 33624 5478
12
Travoprost Approved Phase 4,Phase 3,Phase 2 157283-68-6 5282226
13
Paclitaxel Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 33069-62-4 36314
14
Alcaftadine Approved Phase 4 147084-10-4 19371515
15
Histamine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 75614-87-8, 51-45-6 774
16
Carbidopa Approved Phase 4,Phase 3,Phase 2 28860-95-9 34359 38101
17
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 51-61-6, 62-31-7 681
18
Levodopa Approved Phase 4,Phase 3,Phase 2 59-92-7 6047
19
Norepinephrine Approved Phase 4,Phase 3 51-41-2 439260
20
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
21
Terbutaline Approved Phase 4 23031-25-6 5403
22
Carbamazepine Approved, Investigational Phase 4,Phase 2,Phase 3 298-46-4 2554
23
Coal tar Approved Phase 4,Phase 1,Phase 2 8007-45-2
24
Olanzapine Approved, Investigational Phase 4,Phase 3 132539-06-1 4585
25
Oxcarbazepine Approved Phase 4 28721-07-5 34312
26
Valproic Acid Approved, Investigational Phase 4,Phase 2,Phase 3 99-66-1 3121
27
Ziprasidone Approved Phase 4,Phase 2 146939-27-7 60854
28
Rasagiline Approved Phase 4 136236-51-6 3052776
29
Risperidone Approved, Investigational Phase 4,Phase 3 106266-06-2 5073
30
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
31
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 128794-94-5 5281078
32
Mycophenolic acid Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 24280-93-1 446541
33
Ganciclovir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 82410-32-0 3454
34
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-28-2 5757 53477783
35
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2,Phase 1 57-63-6 5991
36
Gatifloxacin Approved, Investigational Phase 4,Phase 3 112811-59-3 5379
37
Moxifloxacin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 354812-41-2, 151096-09-2 152946
38
Norgestimate Approved Phase 4,Phase 3,Phase 2,Phase 1 35189-28-7 6540478
39
Bevacizumab Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 216974-75-3
40
Cyclosporine Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
41
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 22916-47-8 4189
42
Everolimus Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 159351-69-6 6442177
43
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 53123-88-9 5284616 6436030 46835353
44
Clonidine Approved Phase 4 4205-90-7 2803
45
Nitric Oxide Approved Phase 4,Phase 2,Phase 1 10102-43-9 145068
46
Colchicine Approved Phase 4 64-86-8 6167 2833
47
Peginterferon alfa-2b Approved Phase 4,Phase 1 99210-65-8, 215647-85-1
48
Aluminum hydroxide Approved Phase 4,Phase 1,Phase 2 21645-51-2
49
Neomycin Approved, Vet_approved Phase 4,Phase 1 1404-04-2 8378
50
Dorzolamide Approved Phase 4,Phase 3,Phase 2,Phase 1 120279-96-1 3154 5284549

Interventional clinical trials:

(show top 50) (show all 5000)
id Name Status NCT ID Phase
1 Flucinolone Acetonide Implant for Treating Refractory Ocular Behcet's Disease Unknown status NCT00720928 Phase 4
2 Evaluation of Changes in the Parameters of Optical Coherence Tomography After Intravitreal Injection of Lucentis Unknown status NCT01669447 Phase 4
3 Efficient Study of ACULAR in Inhibiting Proliferative Retinopathy in Prematurity Unknown status NCT00634972 Phase 4
4 The Efficacy of Methylprednisolone in the Treatment of Patients With Ocular Involvement in Behcet's Disease Unknown status NCT01306955 Phase 4
5 Role of Inflammation Factors and Insulin Resistance in Major Depressive Disorder Unknown status NCT01699490 Phase 4
6 IntraVitreal Triamcinolone Acetonide: Preventing Raised Eye-pressure by Tracking Elevations After Topical Steroids Unknown status NCT00744666 Phase 4
7 The Secondary Beneficial Effects of Prostaglandin Analog Treatment in Thyroid Eye Disease Patients. Unknown status NCT01927406 Phase 4
8 Do Cobalt Chrome Stent and Paclitaxel-Eluting Stent Have Equivalent Clinical Result in Non-Complex Lesion? Unknown status NCT00852215 Phase 4
9 Ocular Allergy Treatment Practical Impact Trial Unknown status NCT01808768 Phase 4
10 Oral Nutrition Impact on Tear Film Unknown status NCT01561040 Phase 4
11 Remission of ICD by Switching Dopamine Agonist to Levodopa/Carbidopa Unknown status NCT01683253 Phase 4
12 Pharmacogenomics Studies of Antidepressants Unknown status NCT01204086 Phase 4
13 A Randomized, Double-Blind, Placebo-Controlled Study of Gastroesophageal Reflux Disease Therapy. Unknown status NCT00237068 Phase 4
14 CPAP for Infantile Pompe Disease Unknown status NCT02405624 Phase 4
15 Study to Investigate the Effect of Heart Rate Reduction With Ivabradine on Vascular Elastic Properties and Endothelial Function in Patients With Stable Coronary Heart Disease Unknown status NCT01768585 Phase 4
16 Efficacy and Safety of Tulobuterol Patch Combined With Tiotropium Bromide for Relieving Dyspnea Symptom of Chronic Obstructive Pulmonary Disease Unknown status NCT01465906 Phase 4
17 The Canadian Prevention of Renal and Cardiovascular Endpoints Trial Unknown status NCT00231803 Phase 4
18 Comparative Efficacy and Acceptability of Antimanic Drugs in Acute Mania Unknown status NCT01893229 Phase 4
19 A Study Assessing Change in Sense of Smell After Rasagiline Use in Parkinson's Patients Unknown status NCT01007630 Phase 4
20 High Dose Risperidone Consta for Patients With Schizophrenia With Poor Response to Risperidone Unknown status NCT00539071 Phase 4
21 Metoprolol and Formoterol in Chronic Obstructive Pulmonary Disease (COPD) Unknown status NCT00288548 Phase 4
22 The Effect of Biannual Monitoring With Magnetic Resonance Imaging (MRI), X-ray, or Usual Care on Treatment for Inflammatory Arthritis Unknown status NCT00808496 Phase 4
23 Effects of Mycophenolate Mofetil (MMF) on Surrogate Markers for Cardiovascular Disease in HIV-1 Infected Patients Unknown status NCT00247494 Phase 4
24 Study to the Optimal Duration of Therapy With Oral Angiogenesis Inhibitors Unknown status NCT00777504 Phase 4
25 Desvenlafaxine vs. Placebo Treatment of Chronic Depression Unknown status NCT01537068 Phase 4
26 Efficiency of XAL-EASE Device in Glaucoma and/or Ocular Hypertension (OHT) Patients, Treated With Xalatan or Xalacom Unknown status NCT01125306 Phase 4
27 A Placebo Controlled Comparison of Topical Zirgan Versus Genteal Gel for the Treatment of Adenovirus Conjunctivitis Unknown status NCT01533480 Phase 4
28 The Effects of Continuous Positive Airway Pressure on Overlap Syndrome Unknown status NCT00914264 Phase 4
29 Effectiveness Study of Zymar Versus Vigamox for Preoperative Sterilization of the Ocular Surface After Loading Dose Unknown status NCT00347828 Phase 4
30 Use of Bevacizumab to Modulate the Outcomes of Trabeculectomy Surgery Unknown status NCT01229202 Phase 4
31 Topical Cyclosporine for the Treatment of Dry Eye in Patients Infected With the Human Immunodeficiency Virus Unknown status NCT00797030 Phase 4
32 Optical Coherence Tomography Comparison of Neointimal Coverage Between CRE8 DES and BMS Unknown status NCT01543373 Phase 4
33 EPIC (Evaluating Perioperative Ischemia Reduction by Clonidine) Unknown status NCT00335582 Phase 4
34 Global Vascular Effects of Intermittent Pneumatic Compression-Pilot Study Unknown status NCT01064323 Phase 4
35 Safety and Efficacy of Gardasil in Females With Juvenile Idiopathic Arthritis (JIA)/Seronegative Arthritis Unknown status NCT00573651 Phase 4
36 Study of Long-Term Peg Intron Vs. Colchicine in Non-Responders. Unknown status NCT00179413 Phase 4
37 Show Improved Vision With the HOYA AF-1 Aspheric Intraocular Lens After Cataract Surgery Unknown status NCT01382641 Phase 4
38 Cellular Immunity in Adult Hepatitis B-vaccinated Serologic Non-responders Unknown status NCT01451801 Phase 4
39 Purpose of This Study is to Evaluate the Safety and Efficacy of One, Two, or Three iStents for the Reduction of Intraocular Pressure in Open-angle Glaucoma Subjects Unknown status NCT01252849 Phase 4
40 Impact of Timolol/Dorzolamide Therapy on Autoregulation in Glaucoma Patients Unknown status NCT02053298 Phase 4
41 Pre-Operative Staging of Pancreatic Cancer Using Superparamagnetic Iron Oxide Magnetic Resonance Imaging (SPIO MRI) Unknown status NCT00920023 Phase 4
42 Determining the Minimal Effective Volume (MEAV95) for Interscalene Brachial Plexus Block for Surgical Anesthesia Unknown status NCT01703130 Phase 4
43 Aqueous Absorption and Pharmacokinetics of Besivance Versus VIGAMOX in Patients Undergoing Phacoemulsification Unknown status NCT01296191 Phase 4
44 LDL-C Lowering Efficacy and Safety of Rosuvastatin 20 mg/Day to10 mg/Day in Chinese ACS(Acute Coronary Syndrome) Patients Unknown status NCT02077257 Phase 4
45 A Comparison of Prophylactic Antibacterial Efficacy of Besivance vs. VIGAMOX Prior to Cataract Surgery Unknown status NCT01296542 Phase 4
46 Identification of Carnitine-Responsive Cardiomyopathy Unknown status NCT01904396 Phase 4
47 Intraoperative Dexamethasone Implant Improves Outcome of Cataract Surgery With Diabetic Macular Edema Completed NCT01546402 Phase 4
48 Comparing SD-tVEP and PERG Tests Between Patients With Glaucoma, Patients With High Eye Pressure and "Normal" Patients Completed NCT02604953 Phase 4
49 Obesity, Oral Contraception, and Ovarian Suppression Completed NCT00827632 Phase 4
50 Evaluation of a Cincalcet Suppression Test Completed NCT01103206 Phase 4

Search NIH Clinical Center for Aland Island Eye Disease

Cochrane evidence based reviews: vision disorders

Genetic Tests for Aland Island Eye Disease

Genetic tests related to Aland Island Eye Disease:

id Genetic test Affiliating Genes
1 Aland Island Eye Disease 24 CACNA1F

Anatomical Context for Aland Island Eye Disease

MalaCards organs/tissues related to Aland Island Eye Disease:

39
Eye

Publications for Aland Island Eye Disease

Articles related to Aland Island Eye Disease:

id Title Authors Year
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
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 ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia. ( 2159212 )
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

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

66
id Symbol AA change Variation ID SNP ID
1 CACNA1F p.Gly603Arg VAR_071433 rs201654095

ClinVar genetic disease variations for Aland Island Eye Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1F CACNA1F, 425-BP DEL deletion Pathogenic
2 RPE65 NM_000329.2(RPE65): c.1338+1G> A single nucleotide variant Pathogenic rs1057518922 GRCh37 Chromosome 1, 68896964: 68896964

Expression for Aland Island Eye Disease

Search GEO for disease gene expression data for Aland Island Eye Disease.

Pathways for Aland Island Eye Disease

GO Terms for Aland Island Eye Disease

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

id Name GO ID Score Top Affiliating Genes
1 neuron projection terminus GO:0044306 8.62 DMD SYP

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

id Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 8.92 CACNA1F NDP NYX RP2

Sources for Aland Island Eye Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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