IHG
MCID: IRS004
MIFTS: 15

Iris Hypoplasia and Glaucoma (IHG) malady

Genetic diseases, Rare diseases categories
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Summaries for Iris Hypoplasia and Glaucoma

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Sources:
47OMIM, 33MalaCards
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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).

Description from OMIM:47 601631

Aliases & Classifications for Iris Hypoplasia and Glaucoma

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Sources:
43NIH Rare Diseases, 22GTR, 47OMIM, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

iris hypoplasia and glaucoma 43 22 47
iris hypoplasia with glaucoma 62
ihg 43


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:

idRelated DiseaseScoreTop Affiliating Genes
1glaucoma10.2
2iridogoniodysgenesis, type 110.2
3iris hypoplasia10.2

Symptoms for Iris Hypoplasia and Glaucoma

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47OMIM
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Clinical features from OMIM:

601631

Drugs & Therapeutics for Iris Hypoplasia and Glaucoma

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Iris Hypoplasia and Glaucoma

Search NIH Clinical Center 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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Publications for Iris Hypoplasia and Glaucoma

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52PubMed
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Articles related to Iris Hypoplasia and Glaucoma:

idTitleAuthorsYear
1
Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. (11007653)
2000

Variations for Iris Hypoplasia and Glaucoma

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64UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Iris Hypoplasia and Glaucoma:

64
id Symbol AA change Variation ID SNP ID
1FOXC1p.Phe112SerVAR_007815

Expression for genes affiliated with Iris Hypoplasia and Glaucoma

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Sources:
2BioGPS, 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

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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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Products for genes affiliated with Iris Hypoplasia and Glaucoma

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Iris Hypoplasia and Glaucoma

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet