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 26

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 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 Iris26
2 Iris Hypoplasia24 PITX2

Anatomical Context for Iris Hypoplasia

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MalaCards organs/tissues related to Iris Hypoplasia:

35
Endothelial

Animal Models for Iris Hypoplasia or affiliated genes

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MGI Mouse Phenotypes related to Iris Hypoplasia:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.8FOXC1, PAX6, PITX2
2MP:00053889.2FOXC1, PAX6, PITX2, STIM1
3MP:00053918.5FOXC1, 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:00330179.6MIR4687, STIM1
3growth coneGO:00304269.3MIR4687, STIM1
4integral component of endoplasmic reticulum membraneGO:00301769.2MIR4687, 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
4animal organ morphogenesisGO:000988710.0PAX6, PITX2
5eye developmentGO:000165410.0FOXC1, PAX6
6myotube differentiationGO:00149029.9MIR4687, STIM1
7detection of calcium ionGO:00055139.9MIR4687, STIM1
8cation transportGO:00068129.9MIR4687, STIM1
9enamel mineralizationGO:00701669.9MIR4687, STIM1
10odontogenesis of dentin-containing toothGO:00424759.9FOXC1, PITX2
11activation of store-operated calcium channel activityGO:00322379.8MIR4687, STIM1
12store-operated calcium entryGO:00021159.8MIR4687, STIM1
13regulation of store-operated calcium entryGO:20012569.8MIR4687, STIM1
14blood vessel developmentGO:00015689.8FOXC1, PAX6
15regulation of calcium ion transportGO:00519249.8MIR4687, STIM1
16calcium ion transportGO:00068169.8MIR4687, STIM1
17regulation of cell migrationGO:00303349.6PAX6, PITX2
18regulation of cardiac conductionGO:19037799.6MIR4687, STIM1
19neuron migrationGO:00017649.5PAX6, PITX2
20camera-type eye developmentGO:00430109.5FOXC1, PAX6, PITX2
21transcription from RNA polymerase II promoterGO:00063669.3FOXC1, PAX6, PITX2
22positive regulation of transcription, DNA-templatedGO:00458939.2FOXC1, PAX6, PITX2
23brain developmentGO:00074208.8FOXC1, 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:00012289.8FOXC1, PAX6
5RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:00009819.2FOXC1, 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet