MCID: IRD007
MIFTS: 30

Iridogoniodysgenesis, Type 1 malady

Genetic diseases, Eye diseases, Fetal diseases, Rare diseases categories

Summaries for Iridogoniodysgenesis, Type 1

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48OMIM, 34MalaCards
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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 phenotypes are pigmentation and limbs/digits/tail.

Description from OMIM:48 601631,602482

Aliases & Classifications for Iridogoniodysgenesis, Type 1

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Sources:
21GeneTests, 48OMIM, 63UMLS, 50Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Aliases & Descriptions:

iridogoniodysgenesis, type 1 21 48 63
axenfeld anomaly 50


External Ids:

ICD10 via Orphanet27 Q13.8
SNOMED-CT via Orphanet60 204152008
UMLS via Orphanet64 C0266548

Related Diseases for Iridogoniodysgenesis, Type 1

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Sources:
18GeneCards, 19GeneDecks
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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 syndrome30.3FOXC1, PITX2
2iridogoniodysgenesis type110.2
3interstitial granulomatous dermatitis with arthritis10.2
4retinitis10.1
5ramon syndrome10.1
6peters plus syndrome10.0PITX2, FOXC1
7aniridia10.0PITX2, FOXC1
8eye disease10.0FOXC1, PITX2
9glaucoma10.0PITX2, FOXC1
10congenital heart disease10.0FOXC1, PITX2
11developmental disabilities9.9PITX2, FOXC1

Graphical network of diseases related to Iridogoniodysgenesis, Type 1:



Diseases related to iridogoniodysgenesis, type 1

Symptoms for Iridogoniodysgenesis, Type 1

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48OMIM
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Symptoms by clinical synopsis from OMIM:

601631

Clinical features from OMIM:

601631,602482

Drugs & Therapeutics for Iridogoniodysgenesis, Type 1

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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21GeneTests
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Genetic tests related to Iridogoniodysgenesis, Type 1:

id Genetic test Affiliating Genes
1 Iridogoniodysgenesis, Type 121 FOXC1

Anatomical Context for Iridogoniodysgenesis, Type 1

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34MalaCards
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MalaCards organs/tissues related to Iridogoniodysgenesis, Type 1:

34
Eye

Animal Models for Iridogoniodysgenesis, Type 1 or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Iridogoniodysgenesis, Type 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3FOXC1, PITX2
2MP:00053719.3FOXC1, PITX2
3MP:00053829.2FOXC1, PITX2
4MP:00053709.2FOXC1, PITX2
5MP:00053889.1PITX2, FOXC1
6MP:00053699.1FOXC1, PITX2
7MP:00053819.0FOXC1, PITX2
8MP:00053918.8FOXC1, PITX2

Publications for Iridogoniodysgenesis, Type 1

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Variations for Iridogoniodysgenesis, Type 1

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Iridogoniodysgenesis, Type 1:

65
id Symbol AA change Variation ID SNP ID
1FOXC1p.Phe112SerVAR_007815

Clinvar genetic disease variations for Iridogoniodysgenesis, Type 1:

1
id Gene Name Type Significance SNP ID Assembly Location
1FOXC1NM_001453.2(FOXC1): c.335T> C (p.Phe112Ser)single nucleotide variantPathogenicrs104893951GRCh37Chr 6, 1611015: 1611015

Expression for genes affiliated with Iridogoniodysgenesis, Type 1

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2BioGPS, 16Gene 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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Sources:
51PathCards, 39NCBI BioSystems Database
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Pathways related to Iridogoniodysgenesis, Type 1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1FOXC1, PITX2

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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17Gene Ontology
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Cellular components related to Iridogoniodysgenesis, Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056679.1FOXC1, PITX2

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

idNameGO IDScoreTop Affiliating Genes
1camera-type eye developmentGO:0430109.2FOXC1, PITX2
2odontogenesis of dentin-containing toothGO:0424759.2FOXC1, PITX2
3in utero embryonic developmentGO:0017019.1FOXC1, PITX2
4regulation of transcription, DNA-templatedGO:0063559.1FOXC1, PITX2
5negative regulation of transcription from RNA polymerase II promoterGO:0001229.0PITX2, FOXC1
6positive regulation of transcription from RNA polymerase II promoterGO:0459448.8FOXC1, PITX2

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:0037009.1FOXC1, PITX2
2chromatin DNA bindingGO:0314909.0FOXC1, PITX2
3transcription factor bindingGO:0081348.8FOXC1, PITX2

Products for genes affiliated with Iridogoniodysgenesis, Type 1

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  • Antibodies
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Sources for Iridogoniodysgenesis, Type 1

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet