ASGD4
MCID: IRD008
MIFTS: 29

Iridogoniodysgenesis, Type 2 (ASGD4) 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 70
Iridogoniodysgenesis Type 1 11 48
Irid1 48 50
Irid2 48 70
Iris Hypoplasia with Early-Onset Glaucoma, Autosomal Dominant 70
Iridogoniodysgenesis Anomaly, Autosomal Dominant 48
Iridogoniodysgenesis Syndrome 2 70
Anterior Segment Dysgenesis 4 70
 
Iridogoniodysgenesis, Type 1 68
Igda Syndrome 48
Irid 1 11
Irid 2 11
Igds2 70
Asgd4 70
Igds 11
Igda 48
Ihga 70

Characteristics:

HPO:

64
iridogoniodysgenesis, type 2:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 137600
Disease Ontology11 DOID:0050786
MedGen37 C1842031
MeSH39 D005124

Summaries for Iridogoniodysgenesis, Type 2

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UniProtKB/Swiss-Prot:70 Anterior segment dysgenesis 4: A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD4 is an autosomal dominant disease.

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 abnormal facial shape. An important gene associated with Iridogoniodysgenesis, Type 2 is PITX2 (Paired Like Homeodomain 2), and among its related pathways is Heart Development. 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.

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

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 61)
idRelated DiseaseScoreTop Affiliating Genes
1hyper-igd syndrome12.3
2iridogoniodysgenesis, type 112.3
3selective igd deficiency disease11.8
4mevalonic aciduria11.1
5interstitial granulomatous dermatitis with arthritis10.9
6axenfeld-rieger syndrome, type 110.8
7delta chain disease10.8
8kallmann syndrome10.8
9leukemia10.1
10conjunctival folliculosis10.1FOXC1, PITX2
11orbital granuloma10.1FOXC1, PITX2
12aphakia, congenital primary10.1FOXC1, PITX2
13jph2-related familial hypertrophic cardiomyopathy10.0FOXC1, PITX2
14skin granular cell tumor10.0FOXC1, PITX2
15cornea plana10.0FOXC1, PITX2
16amyloidosis10.0
17hypertrophy of breast10.0FOXC1, PITX2
18plasma cell leukemia10.0
19deafness, autosomal recessive 9110.0FOXC1, PITX2
20nevoid hypermelanosis, linear and whorled10.0FOXC1, PITX2
21myopia 79.9FOXC1, PITX2
22scapuloperoneal syndrome, myopathic type9.9ASB10, FOXC1, PITX2
23muir-torre syndrome9.9FOXC1, PITX2
24multiple myeloma9.8
25persistent polyclonal b-cell lymphocytosis9.8
26chronic lymphocytic leukemia9.8
27lymphoma9.8
28extramedullary plasmacytoma9.8
29plasmacytoma9.8
30al amyloidosis9.8
31systemic lupus erythematosus9.7
32heavy chain disease9.7
33plasma cell neoplasm9.7
34lupus erythematosus9.7
35hodgkin lymphoma9.6
36membranous nephropathy9.6
37b-cell lymphomas9.6
38glomerulonephritis9.6
39keratopathy9.6
40splenic marginal zone lymphoma9.6
41pulmonary hemosiderosis9.6
42hemosiderosis9.6
43crescentic glomerulonephritis9.6
44pericarditis9.6
45pharyngitis9.6
46dermatitis9.6
47histiocytosis9.6
48granulomatous dermatitis9.6
49myositis9.6
50influenza9.6

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 HP:0000164
2 glaucoma64 HP:0000501
3 abnormal facial shape64 HP:0001999
4 iris hypopigmentation64 HP:0007730
5 hypoplastic iris stroma64 HP:0007990

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
2PITX2NM_ 153426.2(PITX2): c.344G> A (p.Arg115His)SNVPathogenicrs104893861GRCh37Chr 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 pathwaysScoreTop Affiliating Genes
19.5FOXC1, PITX2

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:

idNameGO IDScoreTop Affiliating Genes
1camera-type eye developmentGO:004301010.2FOXC1, PITX2
2odontogenesis of dentin-containing toothGO:004247510.2FOXC1, PITX2
3positive regulation of DNA bindingGO:004338810.2FOXC1, PITX2
4digestive system developmentGO:00551239.9BARX1, PITX2
5spleen developmentGO:00485369.9BARX1, PITX2
6transcription from RNA polymerase II promoterGO:00063668.7BARX1, 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:000098110.2FOXC1, PITX2
2RNA polymerase II regulatory region sequence-specific DNA bindingGO:00009779.8BARX1, FOXC1
3sequence-specific DNA bindingGO:00435659.2BARX1, FOXC1, PITX2
4transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012289.1BARX1, FOXC1

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