MCID: IRS007
MIFTS: 26

Iris Hypoplasia malady

Category: Genetic diseases (common)

Aliases & Classifications for Iris Hypoplasia

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Aliases & Descriptions for Iris Hypoplasia:

Name: Iris Hypoplasia 22

Classifications:



Summaries for Iris Hypoplasia

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MalaCards based summary: Iris Hypoplasia is related to iridogoniodysgenesis, type 1 and edict syndrome. An important gene associated with Iris Hypoplasia is PITX2 (Paired Like Homeodomain 2), and among its related pathways are Heart Development and Transcriptional Regulatory Network in Embryonic Stem Cell. Affiliated tissues include lung, heart and brain, and related mouse phenotypes are pigmentation and craniofacial.

Related Diseases for Iris Hypoplasia

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Graphical network of diseases related to Iris Hypoplasia:



Diseases related to iris hypoplasia

Symptoms for Iris Hypoplasia

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Drugs & Therapeutics for Iris Hypoplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Iris Hypoplasia

Genetic Tests for Iris Hypoplasia

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Genetic tests related to Iris Hypoplasia:

id Genetic test Affiliating Genes
1 Iris Hypoplasia22 PITX2

Anatomical Context for Iris Hypoplasia

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MalaCards organs/tissues related to Iris Hypoplasia:

33
Lung, Heart, Brain, Skin, Endothelial

Animal Models for Iris Hypoplasia or affiliated genes

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MGI Mouse Phenotypes related to Iris Hypoplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1FOXC1, PAX6, PITX2
2MP:00053828.8FOXC1, PAX6, PITX2
3MP:00053888.3FOXC1, PAX6, PITX2, STIM1
4MP:00053918.3FOXC1, PAX6, PITX2, STIM1
5MP:00053908.1FOXC1, PAX6, PITX2, STIM1
6MP:00053857.8FOXC1, PAX6, PITX2, STIM1

Publications for Iris Hypoplasia

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Articles related to Iris Hypoplasia:

(show all 14)
idTitleAuthorsYear
1
A novel PITX2 mutation causing iris hypoplasia. (27081499)
2014
2
PAX6 mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia? (23566044)
2013
3
Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1. (16118645)
2005
4
Iris hypoplasia and aorticopulmonary septal defect: a neurocristopathy. (15956947)
2005
5
Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld-Rieger syndrome patients defined on a purpose-built genomic microarray. (15221791)
2004
6
Iris hypoplasia in mice that lack the alternatively spliced Pax6(5a) isoform. (11983873)
2002
7
Endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (edict) syndrome maps to chromosome 15q22.1-q25.3. (12140022)
2002
8
Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. (11007653)
2000
9
Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent. (10532176)
1999
10
Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. (9437321)
1998
11
Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). (7581385)
1995
12
Evaluation of zones of iris hypoplasia in horses and ponies. (1577645)
1992
13
Iris hypoplasia in incontinentia pigmenti. (7175627)
1982
14

Variations for Iris Hypoplasia

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Expression for genes affiliated with Iris Hypoplasia

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Search GEO for disease gene expression data for Iris Hypoplasia.

Pathways for genes affiliated with Iris Hypoplasia

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Pathways related to Iris Hypoplasia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.4FOXC1, PITX2
29.3FOXC1, PAX6

GO Terms for genes affiliated with Iris Hypoplasia

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Biological processes related to Iris Hypoplasia according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1camera-type eye developmentGO:00430109.9FOXC1, PITX2
2blood vessel developmentGO:00015689.8FOXC1, PAX6
3eye developmentGO:00016549.7FOXC1, PAX6
4heart developmentGO:00075079.7FOXC1, PITX2
5neuron migrationGO:00017649.6PAX6, PITX2
6positive regulation of gene expressionGO:00106289.3FOXC1, PAX6
7positive regulation of transcription, DNA-templatedGO:00458939.2FOXC1, PAX6, PITX2
8transcription from RNA polymerase II promoterGO:00063669.0FOXC1, PAX6, PITX2
9positive regulation of transcription from RNA polymerase II promoterGO:00459448.6FOXC1, PAX6, PITX2

Molecular functions related to Iris Hypoplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:00442129.3FOXC1, PAX6

Sources for Iris Hypoplasia

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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