MCID: IRD008
MIFTS: 31

Iridogoniodysgenesis, Type 2 malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Iridogoniodysgenesis, Type 2

About this section

Aliases & Descriptions for Iridogoniodysgenesis, Type 2:

Name: Iridogoniodysgenesis, Type 2 50 12 66
Iridogoniodysgenesis Syndrome 11 13 48
Iridogoniodysgenesis Type 1 11 46
Iridogoniodysgenesis Type 2 11 46
Irid1 46 48
Irid2 46 68
Iridogoniodysgenesis Anomaly, Autosomal Dominant 46
Iridogoniodysgenesis Syndrome 2 68
 
Iridogoniodysgenesis, Type 1 66
Iridogoniodysgenesis 2 68
Igda Syndrome 46
Irid 1 11
Irid 2 11
Igds2 68
Igda 46
Igds 11

Characteristics:

HPO:

62
iridogoniodysgenesis, type 2:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 137600
Disease Ontology11 DOID:0050786
MedGen35 C1842031

Summaries for Iridogoniodysgenesis, Type 2

About this section
NIH Rare Diseases:46 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 hyper-igd syndrome and iridogoniodysgenesis, type 1, 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 Heart Development and Post-translational modification- synthesis of GPI-anchored proteins. Affiliated tissues include eye.

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:68 Iridogoniodysgenesis 2: Autosomal dominant inherited disease.

Description from OMIM:50 137600

Related Diseases for Iridogoniodysgenesis, Type 2

About this section

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 59)
idRelated DiseaseScoreTop Affiliating Genes
1hyper-igd syndrome12.4
2iridogoniodysgenesis, type 112.3
3selective igd deficiency disease12.0
4mevalonic aciduria11.3
5myeloma10.3
6leukemia10.2
7amyloidosis10.1
8plasma cell leukemia10.1
9isolated growth hormone deficiency, type ib, gh1-related10.1FOXC1, PITX2
10chronic tympanitis10.0FOXC1, PITX2
11adrenal cortical hypofunction10.0FOXC1, PITX2
12rhinosporidiosis10.0FOXC1, PITX2
13axenfeld-rieger syndrome, type 110.0
14delta chain disease10.0
15kallmann syndrome10.0
16larsen-like syndrome9.9FOXC1, PITX2
17multiple myeloma9.9
18persistent polyclonal b-cell lymphocytosis9.9
19chronic lymphocytic leukemia9.9
20lymphoma9.9
21extramedullary plasmacytoma9.9
22plasmacytoma9.9
23al amyloidosis9.9
24combined oxidative phosphorylation deficiency9.9FOXC1, PITX2
25hypogonadotropic hypogonadism 24 without anosmia9.9FOXC1, PITX2
26systemic lupus erythematosus9.8
27heavy chain disease9.8
28plasma cell neoplasm9.8
29lupus erythematosus9.8
30lactocele9.8FOXC1, PITX2
31hodgkin lymphoma9.7
32membranous nephropathy9.7
33b-cell lymphomas9.7
34glomerulonephritis9.7
35keratopathy9.7
36splenic marginal zone lymphoma9.7
37pulmonary hemosiderosis9.7
38hemosiderosis9.7
39crescentic glomerulonephritis9.7
40pericarditis9.7
41pharyngitis9.7
42dermatitis9.7
43histiocytosis9.7
44granulomatous dermatitis9.7
45myositis9.7
46influenza9.7
47pityriasis rosea9.7
48stomatitis9.7
49aphthous stomatitis9.7
50acute myelomonocytic leukemia9.7

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



Diseases related to iridogoniodysgenesis, type 2

Symptoms for Iridogoniodysgenesis, Type 2

About this section

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 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 abnormal facial shape HP:0001999

Drugs & Therapeutics for Iridogoniodysgenesis, Type 2

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Iridogoniodysgenesis, Type 2

Genetic Tests for Iridogoniodysgenesis, Type 2

About this section

Anatomical Context for Iridogoniodysgenesis, Type 2

About this section

MalaCards organs/tissues related to Iridogoniodysgenesis, Type 2:

34
Eye

Animal Models for Iridogoniodysgenesis, Type 2 or affiliated genes

About this section

Publications for Iridogoniodysgenesis, Type 2

About this section

Variations for Iridogoniodysgenesis, Type 2

About this section

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

68
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)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

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

Pathways for genes affiliated with Iridogoniodysgenesis, Type 2

About this section

GO Terms for genes affiliated with Iridogoniodysgenesis, Type 2

About this section

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1camera-type eye developmentGO:00430109.9FOXC1, PITX2
2digestive system developmentGO:00551239.7BARX1, PITX2
3odontogenesis of dentin-containing toothGO:00424759.7FOXC1, PITX2
4spleen developmentGO:00485369.7BARX1, PITX2
5preassembly of GPI anchor in ER membraneGO:00162549.2PIGG, PIGW
6transcription from RNA polymerase II promoterGO:00063668.7BARX1, FOXC1, PITX2
7positive regulation of transcription from RNA polymerase II promoterGO:00459448.7BARX1, FOXC1, PITX2

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:00009819.8FOXC1, PITX2
2transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012289.0BARX1, FOXC1
3transcription factor activity, sequence-specific DNA bindingGO:00037008.7BARX1, FOXC1, PITX2

Sources for Iridogoniodysgenesis, Type 2

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet