MCID: IRS007
MIFTS: 24

Iris Hypoplasia malady

Genetic diseases (common) category

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)


Summaries for Iris Hypoplasia

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MalaCards based summary: Iris Hypoplasia is related to aniridia and iridogoniodysgenesis, type 1. 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.

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 top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1aniridia29.8PITX2, PAX6, FOXC1
2iridogoniodysgenesis, type 110.4
3edict syndrome10.2
4cataract10.1
5anophthalmia/microphthalmia10.1PITX2
6donnai-barrow syndrome10.0
7pierson syndrome10.0
8short syndrome10.0
9yunis-varon syndrome10.0
10oculodentodigital dysplasia10.0
11williams-beuren syndrome10.0
12fanconi anemia, complementation group a10.0
13norrie disease10.0
14focal dermal hypoplasia10.0
15wilms tumor10.0
16gillespie syndrome10.0
17meckel syndrome 110.0
18wagr syndrome10.0
19coats disease10.0
20patau syndrome10.0
21duane retraction syndrome10.0
22incontinentia pigmenti achromians10.0
23patent ductus arteriosus10.0
24ptosis10.0
25aniridia absent patella10.0
26aniridia renal agenesis psychomotor retardation10.0
27anophthalmia megalocornea cardiopathy skeletal anomalies10.0
28chromosome 12p duplication10.0
29chromosome 3q29 microduplication syndrome10.0
30congenital rubella10.0
31deafness onychodystrophy osteodystrophy and mental retardation syndrome10.0
32gms syndrome10.0
33iridogoniodysgenesis, dominant type10.0
34megalocornea mental retardation syndrome10.0
35phace syndrome10.0
36split hand foot malformation10.0
37isolated aniridia10.0
38combined immunodeficiency due to crac channel dysfunction10.0
39chondrodysplasia - disorder of sex development10.0
40aniridia-intellectual disability syndrome10.0
41aniridia - ptosis - intellectual disability - familial obesity10.0
42endotheliitis10.0
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 anomaly9.9PAX6, PITX2
49axenfeld-rieger syndrome, type 39.8FOXC1, PITX2
50congenital heart disease9.7PITX2, FOXC1

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:

Search ClinicalTrials for Iris Hypoplasia

Search 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 Iris Hypoplasia20 PITX2

Anatomical Context for Iris Hypoplasia

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MalaCards organs/tissues related to Iris Hypoplasia:

31
Endothelial

Animal Models for Iris Hypoplasia or affiliated genes

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MGI Mouse Phenotypes related to Iris Hypoplasia:

35 (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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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 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:00056679.3FOXC1, PITX2

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1camera-type eye developmentGO:00430109.5FOXC1, PITX2
2odontogenesis of dentin-containing toothGO:00424759.4PITX2, FOXC1
3iris morphogenesisGO:00610729.3PAX6, PITX2
4lacrimal gland developmentGO:00328089.3FOXC1, PAX6
5regulation of cell migrationGO:00303349.2PAX6, PITX2
6eye developmentGO:00016549.2PAX6, FOXC1
7in utero embryonic developmentGO:00017019.0FOXC1, PITX2
8neuron migrationGO:00017649.0PITX2, PAX6
9transcription from RNA polymerase II promoterGO:00063669.0FOXC1, PAX6
10positive regulation of transcription from RNA polymerase II promoterGO:00459448.5FOXC1, PAX6, PITX2

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

idNameGO IDScoreTop Affiliating Genes
1chromatin DNA bindingGO:00314909.2FOXC1, PITX2
2double-stranded DNA bindingGO:00036908.7PAX6, FOXC1
3transcription factor bindingGO:00081348.5FOXC1, PAX6, PITX2
4sequence-specific DNA binding transcription factor activityGO:00037008.5FOXC1, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet