IHG
MCID: IRS004
MIFTS: 26

Iris Hypoplasia and Glaucoma (IHG) malady

Summaries for Iris Hypoplasia and Glaucoma

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46OMIM, 32MalaCards
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MalaCards: Iris Hypoplasia and Glaucoma, also known as iris hypoplasia with glaucoma, is related to glaucoma and iridogoniodysgenesis, type 1. An important gene associated with Iris Hypoplasia and Glaucoma is FOXC1 (forkhead box C1), and among its related pathways are Heart Development and Transcriptional Regulatory Network in Embryonic Stem Cell. Related mouse phenotypes are pigmentation and craniofacial.

Description from OMIM:46 601631

Aliases & Classifications for Iris Hypoplasia and Glaucoma

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42NIH Rare Diseases, 22GTR, 46OMIM, 60UMLS
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Aliases & Descriptions:

iris hypoplasia and glaucoma 42 22 46
iris hypoplasia with glaucoma 60
ihg 42


Related Diseases for Iris Hypoplasia and Glaucoma

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

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1glaucoma30.2PAX6, PITX2, FOXC1
2iridogoniodysgenesis, type 110.2
3cataract10.0PAX6
4microcephaly10.0PAX6
5coloboma10.0PAX6
6microphthalmia10.0PAX6
7peters plus syndrome10.0FOXC1, PAX6
8glaucoma 3, primary congenital, d10.0FOXC1, PAX6
9axenfeld-rieger syndrome10.0PITX2, FOXC1
10congenital heart defect10.0FOXC1, PITX2
11eye disease10.0PAX6, PITX2, FOXC1
12aniridia10.0FOXC1, PAX6, PITX2
13developmental disabilities10.0FOXC1, PAX6, PITX2

Graphical network of diseases related to Iris Hypoplasia and Glaucoma:



Diseases related to iris hypoplasia and glaucoma

Clinical Features for Iris Hypoplasia and Glaucoma

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46OMIM
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Clinical features from OMIM:

601631

Drugs & Therapeutics for Iris Hypoplasia and Glaucoma

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

Search CenterWatch for Iris Hypoplasia and Glaucoma

Drug clinical trials:

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Search NIH Clinical Center for Iris Hypoplasia and Glaucoma

Search CenterWatch for Iris Hypoplasia and Glaucoma

Genetic Tests for Iris Hypoplasia and Glaucoma

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22GTR
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Genetic tests related to Iris Hypoplasia and Glaucoma:

id Genetic test Affiliating Genes
1 Iris Hypoplasia and Glaucoma22

Anatomical Context for Iris Hypoplasia and Glaucoma

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Animal Models for Iris Hypoplasia and Glaucoma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Iris Hypoplasia and Glaucoma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.7PAX6, FOXC1, PITX2
2MP:00053828.7PAX6, PITX2, FOXC1
3MP:00053888.6FOXC1, PITX2, PAX6
4MP:00053818.6PITX2, PAX6, FOXC1
5MP:00053698.5FOXC1, PAX6, PITX2
6MP:00053908.5PITX2, PAX6, FOXC1
7MP:00053918.4PITX2, PAX6, FOXC1
8MP:00053798.2PAX6, PITX2, FOXC1

Publications for Iris Hypoplasia and Glaucoma

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Genetic Variations for Iris Hypoplasia and Glaucoma

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Iris Hypoplasia and Glaucoma:

62
id Symbol AA change Variation ID SNP ID
1FOXC1p.Phe112SerVAR_007815

Expression for genes affiliated with Iris Hypoplasia and Glaucoma

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

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Pathways for genes affiliated with Iris Hypoplasia and Glaucoma

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Sources:
37NCBI BioSystems Database, 51QIAGEN
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Pathways related to Iris Hypoplasia and Glaucoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3PITX2, FOXC1
29.1PAX6, FOXC1

Compounds for genes affiliated with Iris Hypoplasia and Glaucoma

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GO Terms for genes affiliated with Iris Hypoplasia and Glaucoma

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16Gene Ontology
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Cellular components related to Iris Hypoplasia and Glaucoma according to GeneCards/GeneDecks:

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

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1camera-type eye developmentGO:0430109.4PITX2, FOXC1
2odontogenesis of dentin-containing toothGO:0424759.3PITX2, FOXC1
3lacrimal gland developmentGO:0328089.3PAX6, FOXC1
4in utero embryonic developmentGO:0017019.3PITX2, FOXC1
5eye developmentGO:0016549.3PAX6, FOXC1
6iris morphogenesisGO:0610729.2PAX6, PITX2
7regulation of cell migrationGO:0303349.1PITX2, PAX6
8neuron migrationGO:0017648.7PAX6, PITX2
9positive regulation of transcription from RNA polymerase II promoterGO:0459448.4FOXC1, PITX2, PAX6

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

idNameGO IDScoreTop Affiliating Genes
1chromatin DNA bindingGO:0314909.2PITX2, FOXC1
2double-stranded DNA bindingGO:0036908.8FOXC1, PAX6
3transcription factor bindingGO:0081348.5PAX6, PITX2, FOXC1
4sequence-specific DNA binding transcription factor activityGO:0037008.5PAX6, PITX2, FOXC1

Products for genes affiliated with Iris Hypoplasia and Glaucoma

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Sources for Iris Hypoplasia and Glaucoma

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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