MCID: IRD008
MIFTS: 36

Iridogoniodysgenesis, Type 2 malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Iridogoniodysgenesis, Type 2

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Aliases & Descriptions for Iridogoniodysgenesis, Type 2:

Name: Iridogoniodysgenesis, Type 2 52 12 68
Iridogoniodysgenesis Syndrome 11 50 13
Iridogoniodysgenesis Type 2 11 48
Iridogoniodysgenesis Type 1 11 48
Irid1 48 50
Irid2 48 70
Iridogoniodysgenesis Anomaly, Autosomal Dominant 48
Iridogoniodysgenesis Syndrome 2 70
 
Iridogoniodysgenesis, Type 1 68
Iridogoniodysgenesis 2 70
Igda Syndrome 48
Irid 2 11
Irid 1 11
Igds2 70
Igda 48
Igds 11

Characteristics:

HPO:

64
iridogoniodysgenesis, type 2:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 137600
Disease Ontology11 DOID:0050786
MedGen37 C1842031

Summaries for Iridogoniodysgenesis, Type 2

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NIH Rare Diseases:48 Iridogoniodysgenesis type 1 is a rare condition that affects the eyes. People with this condition are born with malformations of the iris (the colored part of the eye) and cornea, which eventually lead to early-onset glaucoma. The irides of affected people are unusually dark. For example, studies of the condition often describe 'brown' irides as a dark, chocolate color and 'blue' irides as a very dark, slate gray. The iris also lacks the usual pattern and has a smooth appearance. Iridogoniodysgenesis type 1 is caused by changes (mutations) in the FOXC1 gene and is inherited in an autosomal dominant manner. Management is based on the signs and symptoms present in each person and is generally focused on the screening and eventual treatment of glaucoma. Last updated: 3/22/2016

MalaCards based summary: Iridogoniodysgenesis, Type 2, also known as iridogoniodysgenesis syndrome, is related to delta chain disease and hyper-igd syndrome, 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 are Post-translational modification- synthesis of GPI-anchored proteins and IgA-Producing B Cells in the Intestine. Affiliated tissues include eye, and related mouse phenotypes are endocrine/exocrine gland and cellular.

Disease Ontology:11 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.

UniProtKB/Swiss-Prot:70 Iridogoniodysgenesis 2: Autosomal dominant inherited disease.

Description from OMIM:52 137600

Related Diseases for Iridogoniodysgenesis, Type 2

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Diseases in the Iridogoniodysgenesis, Type 1 family:

iridogoniodysgenesis, type 2

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

(show top 50)    (show all 88)
idRelated DiseaseScoreTop Affiliating Genes
1delta chain disease31.2CD38, CD40LG, MYD88
2hyper-igd syndrome12.4
3iridogoniodysgenesis, type 112.3
4selective igd deficiency disease11.8
5mevalonic aciduria11.1
6interstitial granulomatous dermatitis with arthritis10.9
7axenfeld-rieger syndrome, type 110.9
8isolated growth hormone deficiency, type ib, gh1-related10.7FOXC1, PITX2
9chronic tympanitis10.6FOXC1, PITX2
10handigodu joint disease10.6FOXC1, FOXP2
11familial hyperaldosteronism10.5MYOC, PITX2
12adrenal cortical hypofunction10.5FOXC1, PITX2
13acute contagious conjunctivitis10.5FOXC1, MYOC
14primary trimethylaminuria10.5FOXC1, MYOC
15glaucoma 3a, primary open angle, congenital, juvenile, or adult onset10.4FOXC1, MYOC
16lactocele10.4FOXC1, MYOC, PITX2
17peters anomaly10.4FOXC1, MYOC, PITX2
18gamma heavy chain disease10.3CD40LG, MYD88
19arteriosclerosis10.3CD40LG, MYD88
20acute allergic sanguinous otitis media10.3CD27, CD38
21disease_ontology10.3CD40LG, MYD88
22ring dermoid of cornea10.2BARX1, FOXC1, PIGG, PIGW, PITX2
23parapsoriasis10.1CD27, CD40LG, MYD88
24acute motor axonal neuropathy10.1BCL6, CD5
25leukemia10.1
26benign angiitis of the central nervous system10.1CD38, CD5
27white platelet syndrome10.1BCL6, CD38
28polyarteritis nodosa10.1CD40LG, PIGN
29amyloidosis10.0
30membranoproliferative glomerulonephritis10.0CD27, CD40LG, CD5
31endometrioid ovary carcinoma10.0CD5, PRDM1
32plasma cell leukemia10.0
33multicentric reticulohistiocytosis10.0CD5, ITGAX
34chromosome 13q14 deletion syndrome10.0CD38, CD5
35congenital myasthenic syndrome9.9BCL6, CD5
36suppurative uveitis9.9CD40LG, PIGN
37acral lentiginous melanoma9.9CD38, CD5
38lipid-rich breast carcinoma9.8BCL6, CD38, CD40LG
39multiple myeloma9.8
40persistent polyclonal b-cell lymphocytosis9.8
41chronic lymphocytic leukemia9.8
42lymphoma9.8
43extramedullary plasmacytoma9.8
44plasmacytoma9.8
45al amyloidosis9.8
46polyembryoma of the ovary9.8BCL6, CD40LG, CD5
47congenital symblepharon9.8CD27, CD38, CD40LG
48smoldering myeloma9.8CD38, CD40LG, ITGAX
49systemic lupus erythematosus9.7
50heavy chain disease9.7

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



Diseases related to iridogoniodysgenesis, type 2

Symptoms & Phenotypes for Iridogoniodysgenesis, Type 2

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Symptoms by clinical synopsis from OMIM:

137600

Clinical features from OMIM:

137600

Human phenotypes related to Iridogoniodysgenesis, Type 2:

 64
id Description HPO Frequency HPO Source Accession
1 abnormality of the teeth64 hallmark (90%) HP:0000164
2 glaucoma64 hallmark (90%) HP:0000501
3 iris hypopigmentation64 hallmark (90%) HP:0007730
4 hypoplastic iris stroma64 hallmark (90%) HP:0007990
5 abnormal facial shape64 HP:0001999

MGI Mouse Phenotypes related to Iridogoniodysgenesis, Type 2 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.5BCL6, CD38, CD40LG, FOXC1, MYD88, PITX2
2MP:00053848.0BARX1, BCL6, CD27, CD38, CD40LG, FOXC1
3MP:00030127.6BCL6, CD5, ITGAX, MYD88, MYOC, PITX2
4MP:00053876.4BCL6, CD27, CD38, CD40LG, CD5, ITGAX
5MP:00053976.2ASB10, BCL6, CD27, CD38, CD40LG, CD5

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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MalaCards organs/tissues related to Iridogoniodysgenesis, Type 2:

36
Eye

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:

70
id Symbol AA change Variation ID SNP ID
1PITX2p.Arg130TrpVAR_003762rs121909248
2PITX2p.Arg115HisVAR_003765rs104893861

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)SNVPathogenicrs121909248GRCh37Chr 4, 111542322: 111542322

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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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:00098977.8CD27, CD40LG, CD5, ITGAX, PDPN

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1digestive system developmentGO:005512310.8BARX1, PITX2
2GPI anchor biosynthetic processGO:000650610.7PIGG, PIGN
3artery morphogenesisGO:004884410.7FOXC1, PRDM1
4immunoglobulin mediated immune responseGO:001606410.5CD27, MYD88
5camera-type eye developmentGO:004301010.5FOXC1, FOXP2, PITX2
6preassembly of GPI anchor in ER membraneGO:001625410.4PIGG, PIGN, PIGW
7negative regulation of cell-matrix adhesionGO:000195310.2BCL6, MYOC
8negative regulation of Rho protein signal transductionGO:003502410.2BCL6, MYOC
9positive regulation of B cell differentiationGO:004557910.2CD27, PRDM1, XBP1
10lung developmentGO:00303249.9FOXP2, PDPN, PITX2
11positive regulation of cellular component movementGO:00512729.7BCL6, PDPN
12regulation of cell proliferationGO:00421278.8BCL6, CD27, MYD88, PITX2, PRDM1
13negative regulation of apoptotic processGO:00430668.7BCL6, CD27, CD38, CD40LG, MYD88, XBP1

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

idNameGO IDScoreTop Affiliating Genes
1phosphotransferase activity, for other substituted phosphate groupsGO:001678010.7PIGG, PIGN
2RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:000098110.2FOXC1, FOXP2, PITX2, XBP1
3sequence-specific DNA bindingGO:00435659.3BCL6, FOXC1, FOXP2, PITX2, PRDM1, XBP1
4transcription factor activity, sequence-specific DNA bindingGO:00037008.4BARX1, BCL6, FOXC1, FOXP2, PITX2, PRDM1

Sources for Iridogoniodysgenesis, Type 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet