MCID: IRS007
MIFTS: 25

Iris Hypoplasia malady

Summaries for Iris Hypoplasia

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33MalaCards
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MalaCards: Iris Hypoplasia is related to iris hypoplasia and glaucoma and aniridia. 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 endothelial, and related mouse phenotypes are pigmentation and craniofacial.

Aliases & Classifications for Iris Hypoplasia

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20GeneTests
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Aliases & Descriptions:

iris hypoplasia 20


Related Diseases for Iris Hypoplasia

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17GeneCards, 18GeneDecks
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Diseases related to Iris Hypoplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1iris hypoplasia and glaucoma30.5FOXC1
2aniridia30.4FOXC1, PITX2, PAX6
3axenfeld-rieger syndrome29.9FOXC1, PITX2
4edict syndrome10.2
5iridogoniodysgenesis, type 110.1
6wagr syndrome10.0
7williams-beuren syndrome10.0
8incontinentia pigmenti achromians10.0
9patau syndrome10.0
10coats disease10.0
11focal dermal hypoplasia10.0
12patent ductus arteriosus10.0
13micro syndrome10.0
14donnai-barrow syndrome10.0
15short syndrome10.0
16norrie disease10.0
17aniridia absent patella10.0
18aniridia renal agenesis psychomotor retardation10.0
19aniridia, cerebellar ataxia and mental deficiency10.0
20anophthalmia megalocornea cardiopathy skeletal anomalies10.0
21axenfeld-rieger syndrome type 110.0
22chromosome 12p duplication10.0
23chromosome 3q29 microduplication syndrome10.0
24yunis varon syndrome10.0
25congenital rubella10.0
26deafness onychodystrophy osteodystrophy and mental retardation syndrome10.0
27duane syndrome type 210.0
28gms syndrome10.0
29oculodentodigital dysplasia10.0
30phace syndrome10.0
31fanconi anemia, complementation group c10.0
32wilms tumor, type 110.0
33split-hand/foot malformation 610.0
34immunodeficiency 910.0
35cataract, congenital10.0
36meckel syndrome 110.0
37chondrodysplasia - disorder of sex development10.0
38aniridia-intellectual deficit syndrome10.0
39aniridia - ptosis - intellectual deficit - familial obesity10.0
40megalocornea-intellectual deficit syndrome10.0
41robinow-like syndrome10.0
42familial cutaneous collagenoma10.0
43distal monosomy 6p10.0
44cataract10.0PAX6
45microcephaly10.0PAX6
46coloboma10.0PAX6
47microphthalmia10.0PAX6
48congenital heart defect10.0PITX2, FOXC1
49peters plus syndrome10.0PAX6, FOXC1
50glaucoma 3, primary congenital, d10.0PAX6, FOXC1

Graphical network of the top 20 diseases related to Iris Hypoplasia:



Diseases related to iris hypoplasia

Clinical Features for Iris Hypoplasia

Drugs & Therapeutics for Iris Hypoplasia

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Iris Hypoplasia

Genetic Tests for Iris Hypoplasia

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20GeneTests
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Genetic tests related to Iris Hypoplasia:

id Genetic test Affiliating Genes
1 Iris Hypoplasia20 PITX2

Anatomical Context for Iris Hypoplasia

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33MalaCards
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MalaCards organs/tissues related to Iris Hypoplasia:

33
Endothelial

Animal Models for Iris Hypoplasia or affiliated genes

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37MGI, 28inGenious Targeting Laboratory
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Publications for Iris Hypoplasia

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51PubMed
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Articles related to Iris Hypoplasia:

(show all 13)
idTitleAuthorsYear
1
PAX6 mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia? (23566044)
2013
2
Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1. (16118645)
2005
3
Iris hypoplasia and aorticopulmonary septal defect: a neurocristopathy. (15956947)
2005
4
Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld-Rieger syndrome patients defined on a purpose-built genomic microarray. (15221791)
2004
5
Iris hypoplasia in mice that lack the alternatively spliced Pax6(5a) isoform. (11983873)
2002
6
Endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (edict) syndrome maps to chromosome 15q22.1-q25.3. (12140022)
2002
7
Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. (11007653)
2000
8
Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent. (10532176)
1999
9
Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. (9437321)
1998
10
Congenital iris ectropion associated with ocular albinism, foveal hypoplasia, and keratoconjunctivitis sicca. (10532783)
1997
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

Genetic Variations for Iris Hypoplasia

Expression for genes affiliated with Iris Hypoplasia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Iris Hypoplasia

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Pathways for genes affiliated with Iris Hypoplasia

Sources:
38NCBI BioSystems Database, 52QIAGEN
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Pathways related to Iris Hypoplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5PITX2, FOXC1
29.3PAX6, FOXC1

Compounds for genes affiliated with Iris Hypoplasia

GO Terms for genes affiliated with Iris Hypoplasia

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16Gene Ontology
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Biological processes related to Iris Hypoplasia according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1camera-type eye developmentGO:0430109.6PITX2, FOXC1
2iris morphogenesisGO:0610729.6PAX6, PITX2
3lacrimal gland developmentGO:0328089.5PAX6, FOXC1
4odontogenesis of dentin-containing toothGO:0424759.5PITX2, FOXC1
5in utero embryonic developmentGO:0017019.5PITX2, FOXC1
6eye developmentGO:0016549.5PAX6, FOXC1
7regulation of cell migrationGO:0303349.5PITX2, PAX6
8neuron migrationGO:0017649.3PAX6, PITX2
9positive regulation of transcription from RNA polymerase II promoterGO:0459448.6FOXC1, PITX2, PAX6

Molecular functions related to Iris Hypoplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chromatin DNA bindingGO:0314909.4PITX2, FOXC1
2double-stranded DNA bindingGO:0036909.0FOXC1, PAX6
3transcription factor bindingGO:0081348.9PAX6, PITX2, FOXC1
4sequence-specific DNA binding transcription factor activityGO:0037008.9PAX6, PITX2, FOXC1

Products for genes affiliated with Iris Hypoplasia

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Sources for Iris Hypoplasia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet