IGDS
MCID: IRD006
MIFTS: 38

Iridogoniodysgenesis, Dominant Type (IGDS) malady

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

Summaries for Iridogoniodysgenesis, Dominant Type

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48OMIM, 34MalaCards
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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. Affiliated tissues include eye, and related mouse phenotypes are pigmentation and limbs/digits/tail.

Description from OMIM:48 137600,601631,602482

Aliases & Classifications for Iridogoniodysgenesis, Dominant Type

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44NIH Rare Diseases, 63UMLS, 23GTR, 50Orphanet, 48OMIM, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet
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Classifications:

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


Aliases & Descriptions:

iridogoniodysgenesis, dominant type 44 23
iridogoniodysgenesis, type 2 48 63
iris hypoplasia with early onset glaucoma, autosomal dominant 44
iridogoniodysgenesis syndrome 44
iridogoniodysgenesis type 2 44
rieger syndrome 63
rieger anomaly 50
irid2 44
igds 44
ihga 44


External Ids:

ICD10 via Orphanet27 Q13.8
SNOMED-CT via Orphanet60 267585008

Related Diseases for Iridogoniodysgenesis, Dominant Type

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18GeneCards, 19GeneDecks
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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 63)
idRelated DiseaseScoreTop Affiliating Genes
1axenfeld-rieger syndrome30.5FOXC1, PITX2
2aniridia30.1PITX2, FOXC1
3glaucoma30.1PITX2, FOXC1
4hyper-igd syndrome10.8
5short syndrome10.7
6myeloma10.5
7iridogoniodysgenesis syndrome10.4
8leukemia10.4
9amyloidosis10.4
10plasma cell leukemia10.3
11iris dysplasia hypertelorism deafness10.2
12scaphocephaly and axenfeld-rieger anomaly10.2
13brain small vessel disease with axenfeld-rieger anomaly10.2
14selective igd deficiency disease10.2
15extramedullary plasmacytoma10.2
16chronic lymphocytic leukemia10.2
17multiple myeloma10.2
18plasmacytoma10.2
19al amyloidosis10.2
20fuchs' endothelial dystrophy10.1
21coloboma10.1
22wolf-hirschhorn syndrome10.1
23axenfeld-rieger syndrome type 310.1
24endotheliitis10.1
25familial mediterranean fever10.1
26mevalonic aciduria10.1
27systemic lupus erythematosus10.1
28heavy chain disease10.1
29lupus erythematosus10.1
30persistent polyclonal b-cell lymphocytosis10.1
31axenfeld-rieger syndrome type 110.0
32iridogoniodysgenesis, type 110.0
33peters plus syndrome10.0PITX2, FOXC1
34eye disease10.0FOXC1, PITX2
35congenital heart disease10.0FOXC1, PITX2
36developmental disabilities9.9PITX2, FOXC1
37graft versus host disease9.9
38pityriasis rosea9.9
39delta chain disease9.9
40aphthous stomatitis9.9
41granulomatous dermatitis9.9
42hemosiderosis9.9
43splenic marginal zone lymphoma9.9
44crescentic glomerulonephritis9.9
45dermatitis9.9
46glomerulonephritis9.9
47influenza9.9
48keratopathy9.9
49myositis9.9
50osteosclerosis9.9

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



Diseases related to iridogoniodysgenesis, dominant type

Symptoms for Iridogoniodysgenesis, Dominant Type

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48OMIM
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Symptoms by clinical synopsis from OMIM:

137600

Clinical features from OMIM:

137600,601631,602482

Drugs & Therapeutics for Iridogoniodysgenesis, Dominant Type

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Iridogoniodysgenesis, Dominant Type

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Genetic Tests for Iridogoniodysgenesis, Dominant Type

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23GTR
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Genetic tests related to Iridogoniodysgenesis, Dominant Type:

id Genetic test Affiliating Genes
1 Iridogoniodysgenesis, Dominant Type23

Anatomical Context for Iridogoniodysgenesis, Dominant Type

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

34
Eye

Animal Models for Iridogoniodysgenesis, Dominant Type or affiliated genes

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

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

Publications for Iridogoniodysgenesis, Dominant Type

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Variations for Iridogoniodysgenesis, Dominant Type

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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, Dominant Type:

65
id Symbol AA change Variation ID SNP ID
1PITX2p.Arg130TrpVAR_003762
2PITX2p.Arg115HisVAR_003765

Clinvar genetic disease variations for Iridogoniodysgenesis, Dominant Type:

1
id Gene Name Type Significance SNP ID Assembly Location
1PITX2NM_153427.2(PITX2): c.250C> T (p.Arg84Trp)single nucleotide variantPathogenicrs121909248GRCh37Chr 4, 111542322: 111542322
2PITX2NM_153427.2(PITX2): c.206G> A (p.Arg69His)single nucleotide variantPathogenicrs104893861GRCh37Chr 4, 111542366: 111542366

Expression for genes affiliated with Iridogoniodysgenesis, Dominant Type

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Iridogoniodysgenesis, Dominant Type

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Pathways for genes affiliated with Iridogoniodysgenesis, Dominant Type

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Sources:
51PathCards, 39NCBI BioSystems Database
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Pathways related to Iridogoniodysgenesis, Dominant Type according to GeneCards/GeneDecks:

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

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

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

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:0424759.2FOXC1, PITX2
3in utero embryonic developmentGO:0017019.1FOXC1, PITX2
4regulation of transcription, DNA-templatedGO:0063559.1PITX2, FOXC1
5negative regulation of transcription from RNA polymerase II promoterGO:0001229.0FOXC1, PITX2
6positive regulation of transcription from RNA polymerase II promoterGO:0459448.8FOXC1, PITX2

Molecular functions related to Iridogoniodysgenesis, Dominant Type 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, Dominant Type

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Sources for Iridogoniodysgenesis, Dominant Type

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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