IGDS
MCID: IRD006
MIFTS: 36

Iridogoniodysgenesis, Dominant Type (IGDS) malady

Eye diseases, Fetal diseases categories

Summaries for Iridogoniodysgenesis, Dominant Type

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46OMIM, 32MalaCards
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MalaCards: Iridogoniodysgenesis, Dominant Type, also known as iridogoniodysgenesis, type 2, is related to axenfeld-rieger syndrome and glaucoma. An important gene associated with Iridogoniodysgenesis, Dominant Type is PITX2 (paired-like homeodomain 2), and among its related pathways is Heart Development. Affiliated tissues include eye, and related mouse phenotypes are limbs/digits/tail and pigmentation.

Description from OMIM:46 137600,601631,602482

Aliases & Classifications for Iridogoniodysgenesis, Dominant Type

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42NIH Rare Diseases, 60UMLS, 22GTR, 48Orphanet, 46OMIM, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

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


Aliases & Descriptions:

iridogoniodysgenesis, dominant type 42 22
iridogoniodysgenesis, type 2 46 60
iridogoniodysgenesis syndrome 42
iridogoniodysgenesis type 2 42
rieger syndrome 60
rieger anomaly 48
irid2 42
igds 42
ihga 42


External Ids:

ICD10 via Orphanet26 Q13.8
SNOMED-CT via Orphanet57 267585008

Related Diseases for Iridogoniodysgenesis, Dominant Type

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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, Dominant Type via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 61)
idRelated DiseaseScoreTop Affiliating Genes
1axenfeld-rieger syndrome31.5FOXC1, PITX2
2glaucoma30.2PITX2, FOXC1
3aniridia30.0FOXC1, PITX2
4congenital heart defect30.0PITX2, FOXC1
5axenfeld-rieger syndrome type 110.7
6short syndrome10.7
7axenfeld-rieger syndrome type 310.6
8axenfeld-rieger syndrome type 210.6
9myeloma10.5
10hyper-igd syndrome10.5
11iridogoniodysgenesis syndrome10.4
12leukemia10.4
13amyloidosis10.3
14iris dysplasia hypertelorism deafness10.2
15scaphocephaly and axenfeld-rieger anomaly10.2
16brain small vessel disease with axenfeld-rieger anomaly10.2
17selective igd deficiency disease10.1
18delta chain disease10.1
19extramedullary plasmacytoma10.1
20chronic lymphocytic leukemia10.1
21multiple myeloma10.1
22plasmacytoma10.1
23coloboma10.1
24wolf-hirschhorn syndrome10.1
25fuchs' endothelial dystrophy10.1
26familial mediterranean fever10.1
27mevalonic aciduria10.1
28systemic lupus erythematosus10.1
29b cell deficiency10.1
30heavy chain disease10.1
31lupus erythematosus10.1
32blepharophimosis10.0
33cataract10.0
34corneal neovascularization10.0
35mitral valve disease10.0
36retinal detachment10.0
37retinitis10.0
38turner syndrome10.0
39image syndrome10.0
40iridogoniodysgenesis, type 110.0
41iris hypoplasia and glaucoma10.0FOXC1
42peters plus syndrome10.0PITX2
43eye disease10.0PITX2, FOXC1
44developmental disabilities10.0PITX2, FOXC1
45graft versus host disease9.9
46crescentic glomerulonephritis9.9
47pityriasis rosea9.9
48granulomatous dermatitis9.9
49hemosiderosis9.9
50aphthous stomatitis9.9

Graphical network of the top 20 diseases related to Iridogoniodysgenesis, Dominant Type:



Diseases related to iridogoniodysgenesis, dominant type

Clinical Features for Iridogoniodysgenesis, Dominant Type

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46OMIM
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Clinical features from OMIM:

137600,601631,602482

Clinical synopsis from OMIM:

137600

Drugs & Therapeutics for Iridogoniodysgenesis, Dominant Type

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

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Drug clinical trials:

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Genetic Tests for Iridogoniodysgenesis, Dominant Type

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22GTR
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Genetic tests related to Iridogoniodysgenesis, Dominant Type:

id Genetic test Affiliating Genes
1 Iridogoniodysgenesis, Dominant Type22

Anatomical Context for Iridogoniodysgenesis, Dominant Type

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

32
Eye

Animal Models for Iridogoniodysgenesis, Dominant Type or affiliated genes

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1PITX2, FOXC1
2MP:00011868.8PITX2, FOXC1

Publications for Iridogoniodysgenesis, Dominant Type

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Genetic Variations for Iridogoniodysgenesis, Dominant Type

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

62
id Symbol AA change Variation ID SNP ID
1PITX2p.Arg130TrpVAR_003762
2PITX2p.Arg115HisVAR_003765

Expression for genes affiliated with Iridogoniodysgenesis, Dominant Type

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

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

Pathways for genes affiliated with Iridogoniodysgenesis, Dominant Type

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

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

Compounds for genes affiliated with Iridogoniodysgenesis, Dominant Type

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GO Terms for genes affiliated with Iridogoniodysgenesis, Dominant Type

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

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

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

idNameGO IDScoreTop Affiliating Genes
1camera-type eye developmentGO:0430109.2PITX2, FOXC1
2odontogenesis of dentin-containing toothGO:0424759.1PITX2, FOXC1
3positive regulation of transcription from RNA polymerase II promoterGO:0459449.1PITX2, FOXC1
4in utero embryonic developmentGO:0017019.0FOXC1, PITX2
5negative regulation of transcription from RNA polymerase II promoterGO:0001228.8PITX2, FOXC1

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

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

Products for genes affiliated with Iridogoniodysgenesis, Dominant Type

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  • Antibodies
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Sources for Iridogoniodysgenesis, Dominant Type

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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