MCID: IRS007
MIFTS: 25

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 peters anomaly and aphakia, congenital primary. An important gene associated with Iris Hypoplasia is PITX2 (Paired Like Homeodomain 2), and among its related pathways are Transcriptional Regulatory Network in Embryonic Stem Cell and Mesodermal Commitment Pathway. Affiliated tissues include endothelial, and related mouse phenotypes are pigmentation and vision/eye.

Related Diseases for Iris Hypoplasia

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Diseases related to Iris Hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1peters anomaly31.2CYP1B1, FOXC1, PAX6
2aphakia, congenital primary30.9FOXC1, FOXE3, PAX6, PITX2, PITX3
3edict syndrome11.7
4iridogoniodysgenesis, type 111.7
5iridogoniodysgenesis, type 211.4
6aniridia11.3
7aniridia 310.9
8anterior segment mesenchymal dysgenesis10.8
9corneal opacification and other ocular anomalies10.8
10donnai-barrow syndrome10.8
11immunodeficiency 1010.8
12gillespie syndrome10.8
13anterior segment dysgenesis 810.8
14scapuloperoneal syndrome, myopathic type10.2FOXC1, PITX2
15cardiac arrhythmia, ankyrin-b-related10.2FOXC1, PITX2
16silver spastic paraplegia syndrome10.2ITPR1, PAX6
17orbital granuloma10.2FOXC1, PAX6, PITX2
18kcnj10-related pendred syndrome10.2FOXC1, PAX6, TRIM44
19cornea plana10.2FOXC1, PAX6, PITX2
20coloboma of optic nerve10.1ELP4, PAX6, TRIM44
21ring dermoid of cornea10.1PAX6, PITX2, PITX3
22stormorken syndrome10.1MIR4687, STIM1
23skin granular cell tumor10.1ELP4, FOXC1, PAX6, PITX2
24chronic tympanitis10.1CYP1B1, FOXC1
25hereditary xanthinuria10.1CYP1B1, PITX2
26conjunctival folliculosis10.0CYP1B1, FOXC1, PITX2
27meier-gorlin syndrome 110.0FOXE3, PAX6, PITX3
28ceroid lipofuscinosis, neuronal, 210.0MIR4687, STIM1
29pseudopterygium10.0FOXE3, PAX6, PITX3
30red-green color vision defects10.0CYP1B1, FOXC1
31rippling muscle disease 29.9FOXE3, PXDN
32hypertrophy of breast9.9CYP1B1, FOXC1, PAX6, PITX2
33nevoid hypermelanosis, linear and whorled9.9CYP1B1, FOXC1, PITX2
34cornelia de lange syndrome 59.9CYP1B1, FOXE3, PAX6
35cystinosis9.8PAX6, PITX3, PXDN
36cataract9.8
37deafness, autosomal recessive 919.7CYP1B1, FOXC1, FOXE3, PAX6, PITX2
38incontinentia pigmenti9.6
39ptosis9.6
40patent ductus arteriosus9.6
41endotheliitis9.6
42myopia 79.4CYP1B1, ELP4, FOXC1, FOXE3, PAX6, PITX2
43muir-torre syndrome9.1CPAMD8, CYP1B1, FOXC1, FOXE3, PAX6, PITX2
44jph2-related familial hypertrophic cardiomyopathy8.3CPAMD8, CYP1B1, ELP4, FOXC1, FOXE3, IHG1

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:00011869.6FOXC1, PAX6, PITX2, PITX3, PXDN
2MP:00053917.5CYP1B1, FOXC1, ITPR1, PAX6, PITX2, PITX3

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
Iris hypoplasia and aorticopulmonary septal defect: a neurocristopathy. (15956947)
2005
4
Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1. (16118645)
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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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 15)
idNameGO IDScoreTop Affiliating Genes
1pituitary gland developmentGO:002198310.7PAX6, PITX2
2positive regulation of DNA bindingGO:004338810.7FOXC1, PITX2
3lacrimal gland developmentGO:003280810.7FOXC1, PAX6
4negative regulation of neurogenesisGO:005076810.6PAX6, PITX3
5cornea development in camera-type eyeGO:006130310.4FOXE3, PAX6
6animal organ morphogenesisGO:000988710.3PAX6, PITX2, PITX3
7collagen fibril organizationGO:003019910.3CYP1B1, FOXC1
8regulation of gene expressionGO:001046810.2PAX6, PITX3, TRIM44
9iris morphogenesisGO:006107210.2FOXE3, PAX6, PITX2
10lens development in camera-type eyeGO:000208810.0FOXE3, PAX6, PITX3
11trabecular meshwork developmentGO:000293010.0CYP1B1, FOXE3
12camera-type eye developmentGO:00430109.9FOXC1, FOXE3, PAX6, PITX2
13regulation of transcription from RNA polymerase II promoterGO:00063579.8ELP4, FOXE3, PAX6, PITX2
14eye developmentGO:00016549.3CPAMD8, FOXC1, FOXE3, PAX6
15transcription from RNA polymerase II promoterGO:00063668.8FOXC1, FOXE3, PAX6, PITX2, PITX3

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:00009819.9FOXC1, FOXE3, PAX6, PITX2
2sequence-specific DNA bindingGO:00435659.5FOXC1, FOXE3, PAX6, PITX2, PITX3
3transcription factor activity, sequence-specific DNA bindingGO:00037008.8FOXC1, FOXE3, PAX6, PITX2, PITX3

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