MCID: ISL011
MIFTS: 27

Isolated Aniridia

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Isolated Aniridia

MalaCards integrated aliases for Isolated Aniridia:

Name: Isolated Aniridia 55

Characteristics:

Orphanet epidemiological data:

55
isolated aniridia
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 55 ORPHA250923
UMLS via Orphanet 70 C0003076
ICD10 via Orphanet 33 Q13.1

Summaries for Isolated Aniridia

MalaCards based summary : Isolated Aniridia is related to aniridia 1 and aniridia and absent patella, and has symptoms including glaucoma, cataract and aniridia. An important gene associated with Isolated Aniridia is PAX6 (Paired Box 6), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Transcriptional Regulatory Network in Embryonic Stem Cell. Affiliated tissues include eye.

Related Diseases for Isolated Aniridia

Diseases related to Isolated Aniridia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 aniridia 1 31.7 FOXC1 PAX6
2 aniridia and absent patella 11.0
3 aniridia 2 11.0
4 intestinal atresia 9.9 FOXC1 PAX6
5 iris disease 9.9 FOXC1 PAX6
6 persistent hyperplastic primary vitreous 9.8 FOXC1 PAX6
7 juvenile glaucoma 9.8 FOXC1 PAX6
8 glaucoma 3, primary congenital, a 9.8 FOXC1 PAX6
9 axenfeld-rieger syndrome 9.7 FOXC1 PAX6
10 peters-plus syndrome 9.5 FOXC1 PAX6

Graphical network of the top 20 diseases related to Isolated Aniridia:



Diseases related to Isolated Aniridia

Symptoms & Phenotypes for Isolated Aniridia

Human phenotypes related to Isolated Aniridia:

55 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glaucoma 55 31 frequent (33%) Frequent (79-30%) HP:0000501
2 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
3 aniridia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000526
4 visual loss 55 31 hallmark (90%) Very frequent (99-80%) HP:0000572
5 nystagmus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000639
6 peters anomaly 55 31 frequent (33%) Frequent (79-30%) HP:0000659
7 aplasia/hypoplasia of the macula 55 31 hallmark (90%) Very frequent (99-80%) HP:0008059

Drugs & Therapeutics for Isolated Aniridia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions Completed NCT00758108
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Isolated Aniridia

Genetic Tests for Isolated Aniridia

Anatomical Context for Isolated Aniridia

MalaCards organs/tissues related to Isolated Aniridia:

38
Eye

Publications for Isolated Aniridia

Articles related to Isolated Aniridia:

# Title Authors Year
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

Expression for Isolated Aniridia

Search GEO for disease gene expression data for Isolated Aniridia.

Pathways for Isolated Aniridia

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.44 FOXC1 PAX6
2 10.25 FOXC1 PAX6

GO Terms for Isolated Aniridia

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.43 FOXC1 PAX6
2 positive regulation of transcription, DNA-templated GO:0045893 9.43 FOXC1 PAX6 TRIM44
3 brain development GO:0007420 9.4 FOXC1 PAX6
4 regulation of gene expression GO:0010468 9.37 PAX6 TRIM44
5 camera-type eye development GO:0043010 9.32 FOXC1 PAX6
6 blood vessel development GO:0001568 9.16 FOXC1 PAX6
7 eye development GO:0001654 8.96 FOXC1 PAX6
8 lacrimal gland development GO:0032808 8.62 FOXC1 PAX6

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

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.26 FOXC1 PAX6
2 transcription regulatory region DNA binding GO:0044212 9.16 FOXC1 PAX6
3 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 8.96 FOXC1 PAX6
4 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 8.62 FOXC1 PAX6

Sources for Isolated Aniridia

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