MCID: ISL011
MIFTS: 25

Isolated Aniridia malady

Categories: Genetic diseases, Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Isolated Aniridia

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Sources:
24GeneTests, 31ICD10 via Orphanet, 54Orphanet
See all MalaCards sources

Aliases & Descriptions for Isolated Aniridia:

Name: Isolated Aniridia 24 54

Characteristics:

Orphanet epidemiological data:

54
isolated aniridia:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood

Classifications:



External Ids:

Orphanet54 ORPHA250923
ICD10 via Orphanet31 Q13.1

Summaries for Isolated Aniridia

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MalaCards based summary: Isolated Aniridia is related to aniridia and coloboma of optic nerve, and has symptoms including Array, Array and Array. An important gene associated with Isolated Aniridia is PAX6 (Paired Box 6), and among its related pathways are Mesodermal Commitment Pathway and Transcriptional Regulatory Network in Embryonic Stem Cell. Affiliated tissues include eye.

Related Diseases for Isolated Aniridia

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Graphical network of diseases related to Isolated Aniridia:



Diseases related to isolated aniridia

Symptoms & Phenotypes for Isolated Aniridia

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Human phenotypes related to Isolated Aniridia:

 54 64 (show all 7)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glaucoma64 54 Frequent (79-30%) HP:0000501
2 cataract64 54 Frequent (79-30%) HP:0000518
3 aniridia64 54 Very frequent (99-80%) HP:0000526
4 visual loss64 54 Very frequent (99-80%) HP:0000572
5 nystagmus64 54 Very frequent (99-80%) HP:0000639
6 peters anomaly64 54 Frequent (79-30%) HP:0000659
7 aplasia/hypoplasia of the macula64 54 Very frequent (99-80%) HP:0008059

Drugs & Therapeutics for Isolated Aniridia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Characterization of WAGR Syndrome and Other Chromosome 11 Gene DeletionsCompletedNCT00758108
2Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Isolated Aniridia

Genetic Tests for Isolated Aniridia

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Genetic tests related to Isolated Aniridia:

id Genetic test Affiliating Genes
1 Isolated Aniridia24 PAX6

Anatomical Context for Isolated Aniridia

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MalaCards organs/tissues related to Isolated Aniridia:

36
Eye

Publications for Isolated Aniridia

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Articles related to Isolated Aniridia:

idTitleAuthorsYear
1
A novel splice site mutation in the PAX6 gene in a Korean family with isolated aniridia. (25696017)
2015
2
A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group. (19793656)
2009
3
Corneal laceration with total but isolated aniridia caused by a pecking injury. (11020631)
2000
4
Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia. (2817003)
1989
5
Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)]. (3754537)
1986

Variations for Isolated Aniridia

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Expression for genes affiliated with Isolated Aniridia

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Search GEO for disease gene expression data for Isolated Aniridia.

Pathways for genes affiliated with Isolated Aniridia

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Pathways related to Isolated Aniridia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.0FOXC1, PAX6
29.0FOXC1, PAX6

GO Terms for genes affiliated with Isolated Aniridia

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Biological processes related to Isolated Aniridia according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1blood vessel developmentGO:00015689.7FOXC1, PAX6
2brain developmentGO:00074209.7FOXC1, PAX6
3camera-type eye developmentGO:00430109.7FOXC1, PAX6
4eye developmentGO:00016549.7FOXC1, PAX6
5lacrimal gland developmentGO:00328089.7FOXC1, PAX6
6positive regulation of gene expressionGO:00106289.6FOXC1, PAX6
7regulation of gene expressionGO:00104689.3PAX6, TRIM44

Molecular functions related to Isolated Aniridia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:00009819.7FOXC1, PAX6
2transcription factor bindingGO:00081349.7FOXC1, PAX6
3transcription regulatory region DNA bindingGO:00442129.6FOXC1, PAX6
4transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012289.0FOXC1, PAX6

Sources for Isolated Aniridia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet