MCID: IRS007
MIFTS: 24

Iris Hypoplasia malady

Genetic diseases (common) category

Aliases & Classifications for Iris Hypoplasia

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Aliases & Descriptions for Iris Hypoplasia:

Name: Iris Hypoplasia 22


Classifications:



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 skeleton.

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 55)
idRelated DiseaseScoreTop Affiliating Genes
1aniridia29.9FOXC1, PAX6, PITX2
2iridogoniodysgenesis, type 110.4
3edict syndrome10.2
4donnai-barrow syndrome10.0
5pierson syndrome10.0
6short syndrome10.0
7oculodentodigital dysplasia10.0
8yunis-varon syndrome10.0
9wilms tumor susceptibility-510.0
10williams-beuren syndrome10.0
11immunodeficiency 1010.0
12fanconi anemia, complementation group a10.0
13meckel syndrome 110.0
14norrie disease10.0
15focal dermal hypoplasia10.0
16incontinentia pigmenti10.0
17gillespie syndrome10.0
18cataract10.0
19wagr syndrome10.0
20patent ductus arteriosus10.0
21duane retraction syndrome10.0
22patau syndrome10.0
23incontinentia pigmenti achromians10.0
24coats disease10.0
25aniridia - ptosis - intellectual disability - familial obesity10.0
26aniridia absent patella10.0
27aniridia renal agenesis psychomotor retardation10.0
28anophthalmia megalocornea cardiopathy skeletal anomalies10.0
29chromosome 12p duplication10.0
30chromosome 3q29 microduplication syndrome10.0
31congenital rubella10.0
32gms syndrome10.0
33iridogoniodysgenesis, dominant type10.0
34megalocornea-intellectual disability syndrome10.0
35phace syndrome10.0
36isolated aniridia10.0
37combined immunodeficiency due to crac channel dysfunction10.0
38chondrodysplasia - disorder of sex development10.0
39aniridia-intellectual disability syndrome10.0
40endotheliitis10.0
41split hand-split foot malformation10.0
42robinow-like syndrome10.0
43deafness-onychodystrophy syndrome10.0
44familial cutaneous collagenoma10.0
45distal monosomy 6p10.0
46corneal dystrophy10.0PAX6, PITX2
47glaucoma 3a, primary open angle, congenital, juvenile, or adult onset9.9FOXC1, PAX6
48orbital granuloma9.8FOXC1, PAX6, PITX2
49iron metabolism disease9.8FOXC1, PAX6, PITX2
50primary pigmented nodular adrenocortical disease9.8FOXC1, PAX6, PITX2

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 Iris Hypoplasia22 PITX2

Anatomical Context for Iris Hypoplasia

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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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MGI Mouse Phenotypes related to Iris Hypoplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3FOXC1, PAX6, PITX2
2MP:00053908.3FOXC1, PAX6, PITX2, STIM1
3MP:00053858.1FOXC1, PAX6, PITX2, STIM1
4MP:00053888.1FOXC1, PAX6, PITX2, STIM1
5MP:00053917.8FOXC1, PAX6, PITX2, STIM1

Publications for Iris Hypoplasia

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Articles related to Iris Hypoplasia:

(show all 11)
idTitleAuthorsYear
1
Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1. (16118645)
2005
2
Iris hypoplasia and aorticopulmonary septal defect: a neurocristopathy. (15956947)
2005
3
Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld-Rieger syndrome patients defined on a purpose-built genomic microarray. (15221791)
2004
4
Iris hypoplasia in mice that lack the alternatively spliced Pax6(5a) isoform. (11983873)
2002
5
Endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (edict) syndrome maps to chromosome 15q22.1-q25.3. (12140022)
2002
6
Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. (11007653)
2000
7
Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent. (10532176)
1999
8
Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. (9437321)
1998
9
Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). (7581385)
1995
10
Evaluation of zones of iris hypoplasia in horses and ponies. (1577645)
1992
11
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
19.4FOXC1, PITX2
29.3FOXC1, PAX6

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 9)
idNameGO IDScoreTop Affiliating Genes
1iris morphogenesisGO:006107210.2PAX6, PITX2
2lacrimal gland developmentGO:003280810.0FOXC1, PAX6
3eye developmentGO:00016549.8FOXC1, PAX6
4odontogenesis of dentin-containing toothGO:00424759.7FOXC1, PITX2
5blood vessel developmentGO:00015689.3FOXC1, PAX6
6camera-type eye developmentGO:00430109.2FOXC1, PAX6, PITX2
7positive regulation of transcription from RNA polymerase II promoterGO:00459448.9FOXC1, PAX6, PITX2
8brain developmentGO:00074208.8FOXC1, PAX6, PITX2
9transcription from RNA polymerase II promoterGO:00063668.6FOXC1, PAX6, PITX2

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:00009819.7FOXC1, PAX6
2transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012289.0FOXC1, PAX6
3transcription factor bindingGO:00081348.9FOXC1, PAX6, PITX2
4sequence-specific DNA bindingGO:00435658.9FOXC1, PAX6, PITX2

Sources for Iris Hypoplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet