IGDS
MCID: IRD006
MIFTS: 28

Iridogoniodysgenesis, Dominant Type (IGDS) malady

Eye, Fetal categories

Summaries for Iridogoniodysgenesis, Dominant Type

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47OMIM, 33MalaCards
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MalaCards: Iridogoniodysgenesis, Dominant Type, also known as iridogoniodysgenesis, type 2, is related to axenfeld-rieger syndrome and aniridia. An important gene associated with Iridogoniodysgenesis, Dominant Type is PITX2 (paired-like homeodomain 2), and among its related pathways is Heart Development. Related mouse phenotypes are limbs/digits/tail and pigmentation.

Description from OMIM:47 137600,601631,602482

Aliases & Classifications for Iridogoniodysgenesis, Dominant Type

Sources:
43NIH Rare Diseases, 61UMLS, 22GTR, 49Orphanet, 47OMIM, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

iridogoniodysgenesis, dominant type 43 22
iridogoniodysgenesis, type 2 47 61
iridogoniodysgenesis syndrome 43
iridogoniodysgenesis type 2 43
rieger syndrome 61
rieger anomaly 49
irid2 43
igds 43
ihga 43


External Ids:

ICD10 via Orphanet26 Q13.8

Related Diseases for Iridogoniodysgenesis, Dominant Type

Sources:
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 64)
idRelated DiseaseScoreTop Affiliating Genes
1axenfeld-rieger syndrome31.5PITX2, FOXC1
2aniridia30.0FOXC1, PITX2
3axenfeld-rieger syndrome type 110.7
4short syndrome10.7
5axenfeld-rieger syndrome type 310.7
6axenfeld-rieger syndrome type 210.6
7hyper-igd syndrome10.5
8iridogoniodysgenesis syndrome10.4
9amyloidosis10.3
10n syndrome10.3
11plasma cell leukemia10.3
12micro syndrome10.3
13iris hypoplasia10.3
14iris dysplasia hypertelorism deafness10.2
15scaphocephaly and axenfeld-rieger anomaly10.2
16brain small vessel disease with axenfeld-rieger anomaly10.2
17selective igd deficiency disease10.2
18delta chain disease10.2
19extramedullary plasmacytoma10.2
20familial mediterranean fever10.1
21mevalonic aciduria10.1
22systemic lupus erythematosus10.1
23t-cell leukemia10.1
24periodic fever, familial10.1
25coloboma10.1
26wolf-hirschhorn syndrome10.1
27fuchs' endothelial dystrophy10.1
28wolf–hirschhorn syndrome10.1
29iridogoniodysgenesis, type 110.0
30blepharophimosis10.0
31turner syndrome10.0
323-m syndrome10.0
33char syndrome10.0
34chromosome 6p deletion10.0
35glaucoma, congenital10.0
36iridocorneal endothelial syndrome10.0
37persistent hyperplastic primary vitreous10.0
38atrial septal aneurysm10.0
39iris hypoplasia and glaucoma10.0FOXC1
40peters plus syndrome10.0PITX2
41eye disease10.0PITX2, FOXC1
42glaucoma10.0FOXC1, PITX2
43congenital heart defect10.0PITX2, FOXC1
44developmental disabilities10.0FOXC1, PITX2
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

Sources:
47OMIM
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Clinical features from OMIM:

137600,601631,602482

Clinical synopsis from OMIM:

137600

Drugs & Therapeutics for Iridogoniodysgenesis, Dominant Type

Sources:
5CenterWatch, 42NIH 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

Sources:
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

Animal Models for Iridogoniodysgenesis, Dominant Type or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Iridogoniodysgenesis, Dominant Type:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1PITX2, FOXC1
2MP:00011868.8PITX2, FOXC1

Publications for Iridogoniodysgenesis, Dominant Type

Genetic Variations for Iridogoniodysgenesis, Dominant Type

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Iridogoniodysgenesis, Dominant Type:

63
id Symbol AA change Variation SNP ID
1PITX2p.Arg130TrpVAR_003762
2PITX2p.Arg115HisVAR_003765

Expression for genes affiliated with Iridogoniodysgenesis, Dominant Type

Sources:
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

Sources:
38NCBI 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

GO Terms for genes affiliated with Iridogoniodysgenesis, Dominant Type

Sources:
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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Sources for Iridogoniodysgenesis, Dominant Type

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet