IHG
MCID: IRS004
MIFTS: 16

Iris Hypoplasia and Glaucoma (IHG) malady

Genetic diseases, Rare diseases categories

Summaries for Iris Hypoplasia and Glaucoma

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MalaCards based summary: Iris Hypoplasia and Glaucoma, also known as iris hypoplasia with glaucoma, is related to iridogoniodysgenesis syndrome and iris hypoplasia, and has symptoms including glaucoma, x-linked inheritance and hypoplasia of the iris. An important gene associated with Iris Hypoplasia and Glaucoma is FOXC1 (forkhead box C1).

Description from OMIM:46 601631

Aliases & Classifications for Iris Hypoplasia and Glaucoma

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Iris Hypoplasia and Glaucoma, Aliases & Descriptions:

Name: Iris Hypoplasia and Glaucoma 42 23 46
Iris Hypoplasia with Glaucoma 61
 
Ihg 42


Classifications:

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


Related Diseases for Iris Hypoplasia and Glaucoma

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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
1iridogoniodysgenesis syndrome10.3
2iris hypoplasia10.3

Symptoms for Iris Hypoplasia and Glaucoma

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Clinical features from OMIM:

601631

HPO human phenotypes related to Iris Hypoplasia and Glaucoma:

id Description Frequency HPO Source Accession
1 glaucoma HP:0000501
2 x-linked inheritance HP:0001417
3 hypoplasia of the iris HP:0007676

Drugs & Therapeutics for Iris Hypoplasia and Glaucoma

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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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Genetic tests related to Iris Hypoplasia and Glaucoma:

id Genetic test Affiliating Genes
1 Iris Hypoplasia and Glaucoma23

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

63
id Symbol AA change Variation ID SNP ID
1FOXC1p.Phe112SerVAR_007815

Clinvar genetic disease variations for Iris Hypoplasia and Glaucoma:

7
id Gene Name Type Significance SNP ID Assembly Location
1FOXC1NM_001453.2(FOXC1): c.889C> T (p.Pro297Ser)single nucleotide variantPathogenicrs79691946GRCh37Chr 6, 1611569: 1611569
2FOXC1FOXC1, DUPduplicationPathogenic

Expression for genes affiliated with Iris Hypoplasia and Glaucoma

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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
  • Proteins
  • Kits and Assays

Sources for Iris Hypoplasia and Glaucoma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet