MCID: IRD008
MIFTS: 38

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 49 11 65
Iridogoniodysgenesis Syndrome 10 47 12
Iridogoniodysgenesis Type 2 10 45
Iridogoniodysgenesis Type 1 10 45
Irid1 45 47
Irid2 45 67
Iridogoniodysgenesis Anomaly, Autosomal Dominant 45
Iridogoniodysgenesis Syndrome 2 67
 
Iridogoniodysgenesis, Type 1 65
Iridogoniodysgenesis 2 67
Igda Syndrome 45
Irid 2 10
Irid 1 10
Igds2 67
Igda 45
Igds 10

Characteristics:

HPO:

61
iridogoniodysgenesis, type 2:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 137600
Disease Ontology10 DOID:0050786
MedGen34 C1842031
UMLS65 C1842031, C1866560

Summaries for Iridogoniodysgenesis, Type 2

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NIH Rare Diseases:45 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 marginal zone b-cell lymphoma and iridogoniodysgenesis, type 1, and has symptoms including hypoplastic iris stroma, iris hypopigmentation and glaucoma. 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 liver/biliary system and endocrine/exocrine gland.

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.

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

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

(show top 50)    (show all 151)
idRelated DiseaseScoreTop Affiliating Genes
1marginal zone b-cell lymphoma29.5CD40LG, CD5, ITGAX
2iridogoniodysgenesis, type 112.7
3hyper-igd syndrome12.6
4selective igd deficiency disease12.4
5interstitial granulomatous dermatitis with arthritis11.4
6mevalonic aciduria11.3
7isolated growth hormone deficiency, ghrh-related10.5FOXC1, PITX2
8essential pentosuria10.4MYOC, PITX2
9hydrophthalmos10.4FOXC1, MYOC
10primary familial brain calcification10.4FOXC1, MYOC
11delta chain disease10.4
12glaucoma 3a, primary open angle, congenital, juvenile, or adult onset10.4FOXC1, MYOC
13axenfeld-rieger syndrome, type 110.3
14schizophrenia10.3
15separation anxiety disorder10.3FOXC1, MYOC, PITX2
16primary effusion lymphoma10.3MYD88, PRDM1
17lymphoma10.3
18alpha chain disease10.3CD40LG, MYD88
19solitary plasmacytoma of chest wall10.3CD27, CD38
20generalized atherosclerosis10.3CD40LG, MYD88
21clitoris cancer10.3FOXC1, PITX2
22breast lymphoma10.2CD5, PRDM1
23ulcerative colitis10.2
24colitis10.2
25prostatitis10.2
26endotheliitis10.2
27wrinkles10.2CD40LG, MYD88
28baby rattle pelvic dysplasia10.2CD38, CD5
29anal carcinoma in situ10.2CD27, CD40LG, MYD88
30bleeding diathesis due to integrin alpha2-beta1 deficiency10.2BCL6, CD5
31prostate cancer10.1
32retinoschisis10.1
33acute liver failure10.1
34leukemia10.1
35epidural abscess10.1
36gestational diabetes10.1
37cervicitis10.1
38cerebritis10.1
39herpes simplex10.1
40lacrimal system cancer10.1CD27, CD40LG, CD5
41benign shuddering attacks10.1CD38, CD5
42mu chain disease10.1CD38, CD40LG, MYD88
43central pontine myelinolysis10.1CD38, CD5
44keratoderma hereditarium mutilans with ichthyosis10.1CD40LG, CD5
45rheumatoid arthritis10.0
46colorectal cancer10.0
47myocardial infarction10.0
48systemic lupus erythematosus10.0
49malaria10.0
50lung cancer10.0

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:

id Description Frequency HPO Source Accession
1 hypoplastic iris stroma hallmark (90%) HP:0007990
2 iris hypopigmentation hallmark (90%) HP:0007730
3 glaucoma hallmark (90%) HP:0000501
4 abnormality of the teeth hallmark (90%) HP:0000164
5 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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MalaCards organs/tissues related to Iridogoniodysgenesis, Type 2:

33
Eye

Animal Models for Iridogoniodysgenesis, Type 2 or affiliated genes

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MGI Mouse Phenotypes related to Iridogoniodysgenesis, Type 2:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1BCL6, FEN1, FOXC1, PITX2, PRDM1, XBP1
2MP:00053797.9BCL6, CD38, CD40LG, FEN1, FOXC1, MYD88
3MP:00030127.8BCL6, CD5, ITGAX, MYD88, MYOC, PITX2
4MP:00028737.8BCL6, CD5, FEN1, FOXC1, ITGAX, MYOC
5MP:00053847.3BARX1, BCL6, CD27, CD38, CD40LG, FEN1
6MP:00053876.2BCL6, CD27, CD38, CD40LG, CD5, FEN1
7MP:00053976.1BCL6, 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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GO Terms for genes affiliated with Iridogoniodysgenesis, Type 2

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1preassembly of GPI anchor in ER membraneGO:001625410.5PIGN, PIGW
2GPI anchor biosynthetic processGO:000650610.5PIGN, PIGW
3artery morphogenesisGO:004884410.4FOXC1, PRDM1
4positive regulation of endothelial cell apoptotic processGO:200035310.4CD40LG, XBP1
5negative regulation of Rho protein signal transductionGO:003502410.1BCL6, MYOC
6regulation of cell proliferationGO:00421279.3BCL6, MYD88, PRDM1
7negative regulation of transcription from RNA polymerase II promoterGO:00001228.6BCL6, FOXP2, PITX2, PRDM1, XBP1
8negative regulation of apoptotic processGO:00430668.4BCL6, CD38, CD40LG, MYD88, XBP1

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055158.1BCL6, CD40LG, FEN1, FOXC1, FOXP2, PITX2

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