MCID: IRS007
MIFTS: 23

Iris Hypoplasia malady

Category: Genetic diseases (common)

Aliases & Classifications for Iris Hypoplasia

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Aliases & Descriptions for Iris Hypoplasia:

Name: Iris Hypoplasia 24 27

Classifications:



Summaries for Iris Hypoplasia

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MalaCards based summary: Iris Hypoplasia is related to edict syndrome and iridogoniodysgenesis, type 1. 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 respiratory system.

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 & Phenotypes for Iris Hypoplasia

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MGI Mouse Phenotypes related to Iris Hypoplasia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.8FOXC1, PAX6, PITX2
2MP:00053889.2FOXC1, PAX6, PITX2, STIM1
3MP:00053918.5FOXC1, PAX6, PITX2, STIM1

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 Iris27
2 Iris Hypoplasia24 PITX2

Anatomical Context for Iris Hypoplasia

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MalaCards organs/tissues related to Iris Hypoplasia:

36
Endothelial

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:00325419.9MIR4687, STIM1
2growth coneGO:00304269.9MIR4687, STIM1
3integral component of endoplasmic reticulum membraneGO:00301769.8MIR4687, STIM1
4sarcoplasmic reticulum membraneGO:00330179.3MIR4687, STIM1

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1animal organ morphogenesisGO:000988710.4PAX6, PITX2
2iris morphogenesisGO:006107210.3PAX6, PITX2
3neuron migrationGO:000176410.3PAX6, PITX2
4pituitary gland developmentGO:002198310.3PAX6, PITX2
5regulation of cell migrationGO:003033410.3PAX6, PITX2
6odontogenesis of dentin-containing toothGO:004247510.3FOXC1, PITX2
7blood vessel developmentGO:000156810.2FOXC1, PAX6
8eye developmentGO:000165410.2FOXC1, PAX6
9lacrimal gland developmentGO:003280810.2FOXC1, PAX6
10activation of store-operated calcium channel activityGO:003223710.1MIR4687, STIM1
11calcium ion transportGO:000681610.1MIR4687, STIM1
12cation transportGO:000681210.1MIR4687, STIM1
13detection of calcium ionGO:000551310.1MIR4687, STIM1
14enamel mineralizationGO:007016610.1MIR4687, STIM1
15myotube differentiationGO:001490210.1MIR4687, STIM1
16regulation of calcium ion transportGO:005192410.0MIR4687, STIM1
17regulation of cardiac conductionGO:190377910.0MIR4687, STIM1
18regulation of store-operated calcium entryGO:200125610.0MIR4687, STIM1
19store-operated calcium entryGO:000211510.0MIR4687, STIM1
20brain developmentGO:00074209.8FOXC1, PAX6, PITX2
21camera-type eye developmentGO:00430109.8FOXC1, PAX6, PITX2
22positive regulation of transcription, DNA-templatedGO:00458939.8FOXC1, PAX6, PITX2
23transcription from RNA polymerase II promoterGO:00063669.1FOXC1, PAX6, PITX2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1calcium channel regulator activityGO:000524610.0MIR4687, STIM1
2microtubule plus-end bindingGO:005101010.0MIR4687, STIM1
3store-operated calcium channel activityGO:001527910.0MIR4687, STIM1
4RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:00009819.8FOXC1, PAX6, PITX2
5sequence-specific DNA bindingGO:00435659.7FOXC1, PAX6, PITX2
6transcription factor bindingGO:00081349.6FOXC1, PAX6, PITX2
7transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012289.5FOXC1, PAX6

Sources for Iris Hypoplasia

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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