MCID: IRD007
MIFTS: 27

Iridogoniodysgenesis, Type 1 malady

Eye diseases, Fetal diseases categories

Summaries for Iridogoniodysgenesis, Type 1

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46OMIM, 32MalaCards
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MalaCards: Iridogoniodysgenesis, Type 1, also known as axenfeld anomaly, is related to axenfeld-rieger syndrome and iridogoniodysgenesis type1. An important gene associated with Iridogoniodysgenesis, Type 1 is FOXC1 (forkhead box C1), and among its related pathways is Heart Development. Affiliated tissues include eye, and related mouse phenotype pigmentation.

Description from OMIM:46 601631,602482

Aliases & Classifications for Iridogoniodysgenesis, Type 1

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Sources:
20GeneTests, 46OMIM, 60UMLS, 48Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Eye diseases


Aliases & Descriptions:

iridogoniodysgenesis, type 1 20 46 60
axenfeld anomaly 48


External Ids:

ICD10 via Orphanet26 Q13.8
SNOMED-CT via Orphanet57 204152008
UMLS via Orphanet61 C0266548

Related Diseases for Iridogoniodysgenesis, Type 1

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17GeneCards, 18GeneDecks
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Diseases in the Iridogoniodysgenesis, Dominant Type family:

Iridogoniodysgenesis Syndrome iridogoniodysgenesis, type 1

Diseases related to Iridogoniodysgenesis, Type 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1axenfeld-rieger syndrome30.3PITX2, FOXC1
2iridogoniodysgenesis type110.2
3interstitial granulomatous dermatitis with arthritis10.2
4retinitis10.1
5iris hypoplasia and glaucoma10.0FOXC1
6peters plus syndrome10.0PITX2, FOXC1
7glaucoma10.0FOXC1, PITX2
8eye disease10.0PITX2, FOXC1
9developmental disabilities10.0FOXC1, PITX2
10aniridia10.0FOXC1, PITX2
11congenital heart defect10.0PITX2, FOXC1

Graphical network of diseases related to Iridogoniodysgenesis, Type 1:



Diseases related to iridogoniodysgenesis, type 1

Clinical Features for Iridogoniodysgenesis, Type 1

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46OMIM
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Clinical features from OMIM:

601631,602482

Clinical synopsis from OMIM:

601631

Drugs & Therapeutics for Iridogoniodysgenesis, Type 1

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

Search CenterWatch for Iridogoniodysgenesis, Type 1

Drug clinical trials:

Search ClinicalTrials for Iridogoniodysgenesis, Type 1

Search NIH Clinical Center for Iridogoniodysgenesis, Type 1

Search CenterWatch for Iridogoniodysgenesis, Type 1

Genetic Tests for Iridogoniodysgenesis, Type 1

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20GeneTests
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Genetic tests related to Iridogoniodysgenesis, Type 1:

id Genetic test Affiliating Genes
1 Iridogoniodysgenesis, Type 120 FOXC1

Anatomical Context for Iridogoniodysgenesis, Type 1

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32MalaCards
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MalaCards organs/tissues related to Iridogoniodysgenesis, Type 1:

32
Eye

Animal Models for Iridogoniodysgenesis, Type 1 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Iridogoniodysgenesis, Type 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.0PITX2, FOXC1

Publications for Iridogoniodysgenesis, Type 1

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Genetic Variations for Iridogoniodysgenesis, Type 1

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Iridogoniodysgenesis, Type 1:

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

Expression for genes affiliated with Iridogoniodysgenesis, Type 1

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Iridogoniodysgenesis, Type 1

Search GEO for disease gene expression data for Iridogoniodysgenesis, Type 1.

Pathways for genes affiliated with Iridogoniodysgenesis, Type 1

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37NCBI BioSystems Database
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Pathways related to Iridogoniodysgenesis, Type 1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0PITX2, FOXC1

Compounds for genes affiliated with Iridogoniodysgenesis, Type 1

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GO Terms for genes affiliated with Iridogoniodysgenesis, Type 1

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16Gene Ontology
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Cellular components related to Iridogoniodysgenesis, Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056679.0PITX2, FOXC1

Biological processes related to Iridogoniodysgenesis, Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1in utero embryonic developmentGO:0017019.0PITX2, FOXC1
2camera-type eye developmentGO:0430108.9PITX2, FOXC1
3odontogenesis of dentin-containing toothGO:0424758.7PITX2, FOXC1

Molecular functions related to Iridogoniodysgenesis, Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor bindingGO:0081349.0PITX2, FOXC1
2chromatin DNA bindingGO:0314908.7PITX2, FOXC1

Products for genes affiliated with Iridogoniodysgenesis, Type 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Iridogoniodysgenesis, Type 1

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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