MCID: IRD008
MIFTS: 37

Iridogoniodysgenesis, Type 2 malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Iridogoniodysgenesis, Type 2

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Aliases & Descriptions for Iridogoniodysgenesis, Type 2:

Name: Iridogoniodysgenesis, Type 2 49 11 65
Iridogoniodysgenesis Syndrome 10 47 12
Iridogoniodysgenesis Syndrome 2 67
Iridogoniodysgenesis Type 1 10
Iridogoniodysgenesis Type 2 10
Iridogoniodysgenesis 2 67
 
Irid 2 10
Irid 1 10
Irid2 67
Igds2 67
Igds 10


Classifications:



External Ids:

OMIM49 137600
Disease Ontology10 DOID:0050786
MedGen34 C1842031

Summaries for Iridogoniodysgenesis, Type 2

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Disease Ontology:10 An autosomal dominant disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has material basis in autosomal dominant inheritance of mutations in the pitx2 gene.

MalaCards based summary: Iridogoniodysgenesis, Type 2, also known as iridogoniodysgenesis syndrome, is related to extramedullary plasmacytoma and plasmacytoma, and has symptoms including abnormality of the teeth, glaucoma and iris hypopigmentation. An important gene associated with Iridogoniodysgenesis, Type 2 is PITX2 (Paired-Like Homeodomain 2), and among its related pathways is NF-kappaB Signaling. Related mouse phenotypes are digestive/alimentary and respiratory system.

UniProtKB/Swiss-Prot:67 Iridogoniodysgenesis 2: Autosomal dominant inherited disease.

Description from OMIM:49 137600

Related Diseases for Iridogoniodysgenesis, Type 2

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Diseases in the Iridogoniodysgenesis, Type 1 family:

iridogoniodysgenesis, type 2 Iridogoniodysgenesis, Dominant Type

Diseases related to Iridogoniodysgenesis, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 109)
idRelated DiseaseScoreTop Affiliating Genes
1extramedullary plasmacytoma30.6CD27, CD38
2plasmacytoma30.1CD38, CD40LG, CD5, MYD88
3hyper-igd syndrome10.8
4iridogoniodysgenesis, type 110.6
5myeloma10.5
6leukemia10.5
7iridogoniodysgenesis, dominant type10.4
8amyloidosis10.4
9plasma cell leukemia10.4
10isolated growth hormone deficiency, ghrh-related10.3FOXC1, PITX2
11essential pentosuria10.3MYOC, PITX2
12orbital granuloma10.3FOXC1, PITX2
13acute contagious conjunctivitis10.3FOXC1, MYOC
14mevalonic aciduria10.3
15selective igd deficiency disease10.3
16primary familial brain calcification10.2FOXC1, MYOC
17iridogoniodysgenesis type110.2
18glandular cystitis10.2FOXC1, MYOC, PITX2
19peters anomaly10.2FOXC1, MYOC, PITX2
20glaucoma 3a, primary open angle, congenital, juvenile, or adult onset10.2FOXC1, MYOC
21traumatic glaucoma10.2CD40LG, MYD88
22hemangioblastoma10.2CD40LG, MYD88
23multiple myeloma10.2
24chronic lymphocytic leukemia10.2
25al amyloidosis10.2
26persistent polyclonal b-cell lymphocytosis10.2
27childhood parosteal osteogenic sarcoma10.2CD5, PRDM1
28anal carcinoma in situ10.1CD27, CD40LG, MYD88
29systemic lupus erythematosus10.1
30adult syndrome10.1
31familial mediterranean fever, ar10.1
32blood protein disease10.1
33heavy chain disease10.1
34hypersensitivity reaction type iv disease10.1
35lupus erythematosus10.1
36nutritional deficiency disease10.1
37peroxisomal disease10.1
38plasma cell neoplasm10.1
39plasma protein metabolism disease10.1
40prion disease10.1
41genetic brain disorders10.1
42peroxisomal biogenesis disorders10.1
43peroxisome disorders10.1
44encephalopathy10.1
45baby rattle pelvic dysplasia10.1CD38, CD5
46axenfeld-rieger syndrome, type 110.1
47bleeding diathesis due to integrin alpha2-beta1 deficiency10.1BCL6, CD5
48keratoderma hereditarium mutilans with ichthyosis10.1CD40LG, CD5
49acute pancreatitis10.1CD27, CD40LG, CD5
50plasmalogens synthesis deficiency isolated10.1BCL6, CD38

Graphical network of the top 20 diseases related to Iridogoniodysgenesis, Type 2:



Diseases related to iridogoniodysgenesis, type 2

Symptoms for Iridogoniodysgenesis, Type 2

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Symptoms by clinical synopsis from OMIM:

137600

Clinical features from OMIM:

137600

HPO human phenotypes related to Iridogoniodysgenesis, Type 2:

(show all 6)
id Description Frequency HPO Source Accession
1 abnormality of the teeth hallmark (90%) HP:0000164
2 glaucoma hallmark (90%) HP:0000501
3 iris hypopigmentation hallmark (90%) HP:0007730
4 hypoplastic iris stroma hallmark (90%) HP:0007990
5 autosomal dominant inheritance HP:0000006
6 abnormal facial shape HP:0001999

Drugs & Therapeutics for Iridogoniodysgenesis, Type 2

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Iridogoniodysgenesis, Type 2

Genetic Tests for Iridogoniodysgenesis, Type 2

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Anatomical Context for Iridogoniodysgenesis, Type 2

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Animal Models for Iridogoniodysgenesis, Type 2 or affiliated genes

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MGI Mouse Phenotypes related to Iridogoniodysgenesis, Type 2:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.9BARX1, FEN1, FOXC1, FOXP2, MYD88, PITX2
2MP:00053888.8BCL6, FEN1, FOXC1, FOXP2, MYD88, PITX2
3MP:00053858.2BCL6, CD40LG, FOXC1, FOXP2, MYD88, PITX2
4MP:00053798.1CD38, CD40LG, FEN1, FOXC1, MYD88, PITX2
5MP:00028738.0BCL6, CD5, FEN1, FOXC1, ITGAX, PITX2
6MP:00030127.7BCL6, CD5, FOXP2, ITGAX, MYD88, MYOC
7MP:00053767.4BCL6, CD38, CD40LG, FEN1, FOXC1, FOXP2
8MP:00053847.1BARX1, BCL6, CD27, CD38, CD40LG, FEN1
9MP:00053876.0BCL6, CD27, CD38, CD40LG, CD5, FEN1
10MP:00053975.9BCL6, CD27, CD38, CD40LG, CD5, FEN1

Publications for Iridogoniodysgenesis, Type 2

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Variations for Iridogoniodysgenesis, Type 2

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UniProtKB/Swiss-Prot genetic disease variations for Iridogoniodysgenesis, Type 2:

67
id Symbol AA change Variation ID SNP ID
1PITX2p.Arg130TrpVAR_003762
2PITX2p.Arg115HisVAR_003765

Clinvar genetic disease variations for Iridogoniodysgenesis, Type 2:

5
id Gene Variation 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, Type 2

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Search GEO for disease gene expression data for Iridogoniodysgenesis, Type 2.

Pathways for genes affiliated with Iridogoniodysgenesis, Type 2

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Pathways related to Iridogoniodysgenesis, Type 2 according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.5BCL6, CD38, CD40LG, MYD88, PRDM1

GO Terms for genes affiliated with Iridogoniodysgenesis, Type 2

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Cellular components related to Iridogoniodysgenesis, Type 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00098978.6CD27, CD40LG, CD5, ITGAX

Biological processes related to Iridogoniodysgenesis, Type 2 according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1artery morphogenesisGO:004884410.4FOXC1, PRDM1
2immunoglobulin mediated immune responseGO:001606410.4CD27, MYD88
3negative regulation of cell-matrix adhesionGO:000195310.3BCL6, MYOC
4positive regulation of B cell differentiationGO:004557910.2CD27, PRDM1, XBP1
5positive regulation of endothelial cell apoptotic processGO:200035310.2CD40LG, XBP1
6camera-type eye developmentGO:004301010.2FOXC1, FOXP2, PITX2
7negative regulation of Rho protein signal transductionGO:003502410.0BCL6, MYOC
8inflammatory responseGO:00069549.3BCL6, CD27, CD40LG, MYD88
9regulation of cell proliferationGO:00421279.2BCL6, CD27, MYD88, PRDM1
10negative regulation of transcription from RNA polymerase II promoterGO:00001228.9BCL6, FOXP2, PITX2, PRDM1, XBP1
11negative regulation of apoptotic processGO:00430668.5BCL6, CD27, CD38, CD40LG, MYD88, XBP1

Molecular functions related to Iridogoniodysgenesis, Type 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:000107810.0FOXP2, PITX2, PRDM1
2RNA polymerase II regulatory region sequence-specific DNA bindingGO:00009779.1BARX1, BCL6, FOXC1, XBP1
3sequence-specific DNA bindingGO:00435658.5BARX1, BCL6, FOXC1, FOXP2, PITX2, PRDM1
4transcription factor activity, sequence-specific DNA bindingGO:00037008.2BARX1, BCL6, FOXC1, FOXP2, PITX2, PRDM1

Sources for Iridogoniodysgenesis, Type 2

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet