MCID: IRS007
MIFTS: 28

Iris Hypoplasia malady

Genetic diseases (common) category
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Summaries for Iris Hypoplasia

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MalaCards based summary: Iris Hypoplasia is related to aniridia and axenfeld-rieger syndrome. 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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Iris Hypoplasia, Aliases & Descriptions:

Name: Iris Hypoplasia 20


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Related Diseases for Iris Hypoplasia

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

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1aniridia29.9PITX2, PAX6, FOXC1
2axenfeld-rieger syndrome29.8FOXC1, PITX2
3iris hypoplasia and glaucoma10.4
4edict syndrome10.3
5cataract10.2
6iridogoniodysgenesis syndrome10.2
7anophthalmia/microphthalmia10.1PITX2
8wagr syndrome10.0
9wilms tumor10.0
10focal dermal hypoplasia10.0
11coats disease10.0
12williams-beuren syndrome10.0
13patent ductus arteriosus10.0
14patau syndrome10.0
15incontinentia pigmenti achromians10.0
16donnai-barrow syndrome10.0
17short syndrome10.0
18aniridia absent patella10.0
19aniridia renal agenesis psychomotor retardation10.0
20anophthalmia megalocornea cardiopathy skeletal anomalies10.0
21axenfeld-rieger syndrome type 110.0
22chromosome 12p duplication10.0
23chromosome 3q29 microduplication syndrome10.0
24congenital rubella10.0
25deafness onychodystrophy osteodystrophy and mental retardation syndrome10.0
26duane syndrome type 210.0
27gillespie syndrome10.0
28gms syndrome10.0
29iridogoniodysgenesis, dominant type10.0
30norrie disease10.0
31oculodentodigital dysplasia10.0
32phace syndrome10.0
33yunis varon syndrome10.0
34split-hand/foot malformation 610.0
35immunodeficiency 910.0
36fanconi anemia, complementation group j10.0
37meckel syndrome 110.0
38chondrodysplasia - disorder of sex development10.0
39aniridia-intellectual disability syndrome10.0
40aniridia - ptosis - intellectual disability - familial obesity10.0
41endotheliitis10.0
42megalocornea-intellectual disability syndrome10.0
43robinow-like syndrome10.0
44familial cutaneous collagenoma10.0
45distal monosomy 6p10.0
46glaucoma 3a, primary open angle, congenital, juvenile, or adult onset10.0PAX6, FOXC1
47mental retardation10.0PAX6, FOXC1
48peters plus syndrome9.9PAX6, PITX2
49congenital heart disease9.7PITX2, FOXC1
50spiradenoma9.7PITX2, FOXC1, PAX6

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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Drug clinical trials:

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Genetic Tests for Iris Hypoplasia

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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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MalaCards organs/tissues related to Iris Hypoplasia:

32
Endothelial

Animal Models for Iris Hypoplasia or affiliated genes

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MGI Mouse Phenotypes related to Iris Hypoplasia:

36 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.8FOXC1, PAX6, PITX2
2MP:00053828.8PITX2, PAX6, FOXC1
3MP:00053888.7FOXC1, PAX6, PITX2
4MP:00053818.7PITX2, PAX6, FOXC1
5MP:00053918.7FOXC1, PAX6, PITX2
6MP:00053698.7FOXC1, PAX6, PITX2
7MP:00053798.6PITX2, PAX6, FOXC1
8MP:00053908.6FOXC1, PAX6, PITX2
9MP:00053808.5FOXC1, PAX6, PITX2
10MP:00053858.5FOXC1, PAX6, PITX2
11MP:00028738.4PITX2, PAX6, FOXC1
12MP:00053898.2FOXC1, PAX6, PITX2

Publications for Iris Hypoplasia

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Articles related to Iris Hypoplasia:

(show all 12)
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
Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). (7581385)
1995
11
Evaluation of zones of iris hypoplasia in horses and ponies. (1577645)
1992
12
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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Expression patterns in normal tissues for genes affiliated with Iris Hypoplasia

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Pathways for genes affiliated with Iris Hypoplasia

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Pathways related to Iris Hypoplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3FOXC1, PITX2
29.0FOXC1, PAX6

Compounds for genes affiliated with Iris Hypoplasia

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GO Terms for genes affiliated with Iris Hypoplasia

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Cellular components related to Iris Hypoplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056679.3FOXC1, PITX2

Biological processes related to Iris Hypoplasia according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1camera-type eye developmentGO:0430109.5FOXC1, PITX2
2odontogenesis of dentin-containing toothGO:0424759.4PITX2, FOXC1
3iris morphogenesisGO:0610729.3PAX6, PITX2
4lacrimal gland developmentGO:0328089.3FOXC1, PAX6
5regulation of cell migrationGO:0303349.2PAX6, PITX2
6eye developmentGO:0016549.2PAX6, FOXC1
7in utero embryonic developmentGO:0017019.0FOXC1, PITX2
8neuron migrationGO:0017649.0PITX2, PAX6
9transcription from RNA polymerase II promoterGO:0063669.0FOXC1, PAX6
10positive regulation of transcription from RNA polymerase II promoterGO:0459448.5FOXC1, PAX6, PITX2

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

idNameGO IDScoreTop Affiliating Genes
1chromatin DNA bindingGO:0314909.2FOXC1, PITX2
2double-stranded DNA bindingGO:0036908.7PAX6, FOXC1
3transcription factor bindingGO:0081348.5FOXC1, PAX6, PITX2
4sequence-specific DNA binding transcription factor activityGO:0037008.5FOXC1, PAX6, PITX2

Products for genes affiliated with Iris Hypoplasia

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Sources for Iris Hypoplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet