MCID: IRS007
MIFTS: 24

Iris Hypoplasia malady

Category: Genetic diseases (common)

Aliases & Classifications for Iris Hypoplasia

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Aliases & Descriptions for Iris Hypoplasia:

Name: Iris Hypoplasia 23 25

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 is Heart Development. Affiliated tissues include endothelial, and related mouse phenotypes are pigmentation and vision/eye.

Related Diseases for Iris Hypoplasia

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Graphical network of the top 20 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 Hypoplasia of the Iris25
2 Iris Hypoplasia23 PITX2

Anatomical Context for Iris Hypoplasia

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MalaCards organs/tissues related to Iris Hypoplasia:

34
Endothelial

Animal Models for Iris Hypoplasia or affiliated genes

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MGI Mouse Phenotypes related to Iris Hypoplasia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3FOXC1, PAX6, PITX2
2MP:00053918.5FOXC1, PAX6, PITX2, STIM1
3MP:00053888.4FOXC1, PAX6, PITX2, STIM1

Publications for Iris Hypoplasia

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Articles related to Iris Hypoplasia:

(show all 13)
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

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
19.5FOXC1, PITX2

GO Terms for genes affiliated with Iris Hypoplasia

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Cellular components related to Iris Hypoplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cortical endoplasmic reticulumGO:00325419.8MIR4687, STIM1
2sarcoplasmic reticulum membraneGO:00330179.5MIR4687, STIM1
3growth coneGO:00304269.3MIR4687, STIM1
4integral component of endoplasmic reticulum membraneGO:00301769.0MIR4687, STIM1

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1iris morphogenesisGO:006107210.3PAX6, PITX2
2lacrimal gland developmentGO:003280810.2FOXC1, PAX6
3pituitary gland developmentGO:002198310.1PAX6, PITX2
4eye developmentGO:000165410.0FOXC1, PAX6
5animal organ morphogenesisGO:000988710.0PAX6, PITX2
6myotube differentiationGO:00149029.9MIR4687, STIM1
7detection of calcium ionGO:00055139.9MIR4687, STIM1
8enamel mineralizationGO:00701669.9MIR4687, STIM1
9cation transportGO:00068129.9MIR4687, STIM1
10activation of store-operated calcium channel activityGO:00322379.9MIR4687, STIM1
11store-operated calcium entryGO:00021159.9MIR4687, STIM1
12regulation of store-operated calcium entryGO:20012569.9MIR4687, STIM1
13odontogenesis of dentin-containing toothGO:00424759.8FOXC1, PITX2
14blood vessel developmentGO:00015689.8FOXC1, PAX6
15regulation of calcium ion transportGO:00519249.7MIR4687, STIM1
16calcium ion transportGO:00068169.7MIR4687, STIM1
17neuron migrationGO:00017649.6PAX6, PITX2
18camera-type eye developmentGO:00430109.5FOXC1, PAX6, PITX2
19regulation of cardiac conductionGO:19037799.4MIR4687, STIM1
20regulation of cell migrationGO:00303349.3PAX6, PITX2
21positive regulation of transcription, DNA-templatedGO:00458939.2FOXC1, PAX6, PITX2
22transcription from RNA polymerase II promoterGO:00063669.2FOXC1, PAX6, PITX2
23brain developmentGO:00074209.0FOXC1, PAX6, PITX2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1store-operated calcium channel activityGO:00152799.9MIR4687, STIM1
2microtubule plus-end bindingGO:00510109.8MIR4687, STIM1
3calcium channel regulator activityGO:00052469.8MIR4687, STIM1
4transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012289.6FOXC1, PAX6
5RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:00009819.4FOXC1, PAX6, PITX2
6sequence-specific DNA bindingGO:00435659.1FOXC1, PAX6, PITX2
7transcription factor bindingGO:00081348.8FOXC1, PAX6, PITX2

Sources for Iris Hypoplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet