IHG
MCID: IRS004
MIFTS: 22

Iris Hypoplasia and Glaucoma (IHG) malady

Summaries for Iris Hypoplasia and Glaucoma

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47OMIM, 33MalaCards
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MalaCards: Iris Hypoplasia and Glaucoma, also known as iris hypoplasia with glaucoma, is related to iridogoniodysgenesis, type 1 and iris hypoplasia. 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:47 601631

Aliases & Classifications for Iris Hypoplasia and Glaucoma

Sources:
43NIH Rare Diseases, 22GTR, 47OMIM, 61UMLS
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Aliases & Descriptions:

iris hypoplasia and glaucoma 43 22 47
iris hypoplasia with glaucoma 61
ihg 43


Related Diseases for Iris Hypoplasia and Glaucoma

Sources:
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 14)
idRelated DiseaseScoreTop Affiliating Genes
1iridogoniodysgenesis, type 110.2
2iris hypoplasia10.2
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
14glaucoma10.0PAX6, PITX2, FOXC1

Graphical network of diseases related to Iris Hypoplasia and Glaucoma:



Diseases related to iris hypoplasia and glaucoma

Clinical Features for Iris Hypoplasia and Glaucoma

Sources:
47OMIM
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Clinical features from OMIM:

601631

Drugs & Therapeutics for Iris Hypoplasia and Glaucoma

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Iris Hypoplasia and Glaucoma

Search NIH Clinical Center for Iris Hypoplasia and Glaucoma

Search CenterWatch for Iris Hypoplasia and Glaucoma

Genetic Tests for Iris Hypoplasia and Glaucoma

Sources:
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

Animal Models for Iris Hypoplasia and Glaucoma or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Iris Hypoplasia and Glaucoma

Genetic Variations for Iris Hypoplasia and Glaucoma

Expression for genes affiliated with Iris Hypoplasia and Glaucoma

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

Search GEO for disease gene expression data for Iris Hypoplasia and Glaucoma.

Pathways for genes affiliated with Iris Hypoplasia and Glaucoma

Sources:
38NCBI BioSystems Database, 52QIAGEN
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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

GO Terms for genes affiliated with Iris Hypoplasia and Glaucoma

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

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, FOXC1, PITX2
4sequence-specific DNA binding transcription factor activityGO:0037008.5FOXC1, PITX2, PAX6

Products for genes affiliated with Iris Hypoplasia and Glaucoma

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Iris Hypoplasia and Glaucoma

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet