MCID: ISL011
MIFTS: 26

Isolated Aniridia

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

Aliases & Classifications for Isolated Aniridia

MalaCards integrated aliases for Isolated Aniridia:

Name: Isolated Aniridia 24 56

Characteristics:

Orphanet epidemiological data:

56
isolated aniridia
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 56 ORPHA250923
UMLS via Orphanet 70 C0003076
ICD10 via Orphanet 34 Q13.1

Summaries for Isolated Aniridia

MalaCards based summary : Isolated Aniridia is related to aniridia and adrenal cortical hypofunction, 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

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:

56 32 (show all 7)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glaucoma 56 32 frequent (33%) Frequent (79-30%) HP:0000501
2 cataract 56 32 frequent (33%) Frequent (79-30%) HP:0000518
3 aniridia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000526
4 visual loss 56 32 hallmark (90%) Very frequent (99-80%) HP:0000572
5 nystagmus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000639
6 peters anomaly 56 32 frequent (33%) Frequent (79-30%) HP:0000659
7 aplasia/hypoplasia of the macula 56 32 hallmark (90%) Very frequent (99-80%) HP:0008059

Drugs & Therapeutics for Isolated Aniridia

Interventional clinical trials:


id 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

Genetic tests related to Isolated Aniridia:

id Genetic test Affiliating Genes
1 Isolated Aniridia 24 PAX6

Anatomical Context for Isolated Aniridia

MalaCards organs/tissues related to Isolated Aniridia:

39
Eye

Publications for Isolated Aniridia

Articles related to Isolated Aniridia:

id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.4 FOXC1 PAX6
2 brain development GO:0007420 9.37 FOXC1 PAX6
3 regulation of gene expression GO:0010468 9.32 PAX6 TRIM44
4 camera-type eye development GO:0043010 9.26 FOXC1 PAX6
5 blood vessel development GO:0001568 9.16 FOXC1 PAX6
6 eye development GO:0001654 8.96 FOXC1 PAX6
7 lacrimal gland development GO:0032808 8.62 FOXC1 PAX6

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

id 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 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
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....