MCID: IRS007
MIFTS: 21

Iris Hypoplasia malady

Summaries for Iris Hypoplasia

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32MalaCards
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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. 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 52)
idRelated DiseaseScoreTop Affiliating Genes
1iris hypoplasia and glaucoma30.4FOXC1
2aniridia30.3FOXC1, PAX6, PITX2
3cataract30.1PAX6
4axenfeld-rieger syndrome29.9PITX2, FOXC1
5glaucoma29.9FOXC1, PITX2, PAX6
6iridogoniodysgenesis, type 110.1
7edict syndrome10.1
8microcephaly10.0PAX6
9coloboma10.0PAX6
10microphthalmia10.0PAX6
11congenital heart defect10.0FOXC1, PITX2
12peters plus syndrome10.0FOXC1, PAX6
13glaucoma 3, primary congenital, d10.0FOXC1, PAX6
14eye disease10.0PAX6, PITX2, FOXC1
15developmental disabilities10.0FOXC1, PAX6, PITX2
16wagr syndrome10.0
17williams-beuren syndrome10.0
18incontinentia pigmenti achromians10.0
19patau syndrome10.0
20coats disease10.0
21focal dermal hypoplasia10.0
22diabetic cataract10.0
23patent ductus arteriosus10.0
24donnai-barrow syndrome10.0
25short syndrome10.0
26norrie disease10.0
27aniridia absent patella10.0
28aniridia renal agenesis psychomotor retardation10.0
29aniridia, cerebellar ataxia and mental deficiency10.0
30anophthalmia megalocornea cardiopathy skeletal anomalies10.0
31axenfeld-rieger syndrome type 110.0
32chromosome 12p duplication10.0
33chromosome 3q29 microduplication syndrome10.0
34yunis varon syndrome10.0
35congenital rubella10.0
36deafness onychodystrophy osteodystrophy and mental retardation syndrome10.0
37duane syndrome type 210.0
38gms syndrome10.0
39oculodentodigital dysplasia10.0
40phace syndrome10.0
41fanconi anemia, complementation group c10.0
42wilms tumor, type 110.0
43split-hand/foot malformation 610.0
44immunodeficiency 910.0
45meckel syndrome 110.0
46chondrodysplasia - disorder of sex development10.0
47aniridia-intellectual deficit syndrome10.0
48aniridia - ptosis - intellectual deficit - familial obesity10.0
49megalocornea-intellectual deficit syndrome10.0
50robinow-like syndrome10.0

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



Diseases related to iris hypoplasia

Clinical Features for Iris Hypoplasia

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Drugs & Therapeutics for Iris Hypoplasia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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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Animal Models for Iris Hypoplasia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Iris Hypoplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.0PITX2, FOXC1, PAX6
2MP:00053828.8FOXC1, PAX6, PITX2
3MP:00053888.2PAX6, STIM1, PITX2, FOXC1
4MP:00053918.2PAX6, STIM1, PITX2, FOXC1
5MP:00053908.1FOXC1, PITX2, STIM1, PAX6
6MP:00053858.1PAX6, STIM1, PITX2, FOXC1
7MP:00053848.1PAX6, STIM1, PITX2, FOXC1
8MP:00036317.8STIM1, FOXC1, PITX2, PAX6

Publications for Iris Hypoplasia

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Genetic Variations for Iris Hypoplasia

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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

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37NCBI BioSystems Database, 51QIAGEN
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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

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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

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet