ASGD4
MCID: IRD008
MIFTS: 29

Iridogoniodysgenesis, Type 2 (ASGD4) malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Iridogoniodysgenesis, Type 2

Aliases & Descriptions for Iridogoniodysgenesis, Type 2:

Name: Iridogoniodysgenesis, Type 2 54 13 69
Iridogoniodysgenesis Syndrome 12 52 14
Iridogoniodysgenesis Type 2 12 50 66
Iridogoniodysgenesis Type 1 12 50
Irid1 50 52
Irid2 50 66
Iris Hypoplasia with Early-Onset Glaucoma, Autosomal Dominant 66
Iridogoniodysgenesis Anomaly, Autosomal Dominant 50
Iridogoniodysgenesis Syndrome 2 66
Anterior Segment Dysgenesis 4 66
Iridogoniodysgenesis, Type 1 69
Igda Syndrome 50
Irid 1 12
Irid 2 12
Igds2 66
Asgd4 66
Igds 12
Igda 50
Ihga 66

Characteristics:

HPO:

32
iridogoniodysgenesis, type 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 137600
Disease Ontology 12 DOID:0050786
MedGen 40 C1842031
MeSH 42 D005124

Summaries for Iridogoniodysgenesis, Type 2

UniProtKB/Swiss-Prot : 66 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, abnormal facial shape and glaucoma. An important gene associated with Iridogoniodysgenesis, Type 2 is PITX2 (Paired Like Homeodomain 2), and among its related pathways/superpathways is Heart Development. Affiliated tissues include eye.

Disease Ontology : 12 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 : 50 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: 137600

Related Diseases for Iridogoniodysgenesis, Type 2

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)
id Related Disease Score Top Affiliating Genes
1 hyper-igd syndrome 12.3
2 iridogoniodysgenesis, type 1 12.3
3 selective igd deficiency disease 11.8
4 mevalonic aciduria 11.1
5 interstitial granulomatous dermatitis with arthritis 10.9
6 axenfeld-rieger syndrome, type 1 10.8
7 kallmann syndrome 10.8
8 delta chain disease 10.8
9 leukemia 10.1
10 conjunctival folliculosis 10.1 FOXC1 PITX2
11 orbital granuloma 10.1 FOXC1 PITX2
12 aphakia, congenital primary 10.1 FOXC1 PITX2
13 jph2-related familial hypertrophic cardiomyopathy 10.0 FOXC1 PITX2
14 skin granular cell tumor 10.0 FOXC1 PITX2
15 cornea plana 10.0 FOXC1 PITX2
16 amyloidosis 10.0
17 hypertrophy of breast 10.0 FOXC1 PITX2
18 plasma cell leukemia 10.0
19 deafness, autosomal recessive 91 10.0 FOXC1 PITX2
20 nevoid hypermelanosis, linear and whorled 10.0 FOXC1 PITX2
21 myopia 7 9.9 FOXC1 PITX2
22 scapuloperoneal syndrome, myopathic type 9.9 ASB10 FOXC1 PITX2
23 muir-torre syndrome 9.9 FOXC1 PITX2
24 multiple myeloma 9.8
25 al amyloidosis 9.8
26 persistent polyclonal b-cell lymphocytosis 9.8
27 chronic lymphocytic leukemia 9.8
28 extramedullary plasmacytoma 9.8
29 plasmacytoma 9.8
30 lymphoma 9.8
31 plasma cell neoplasm 9.7
32 systemic lupus erythematosus 9.7
33 heavy chain disease 9.7
34 lupus erythematosus 9.7
35 membranous nephropathy 9.6
36 crescentic glomerulonephritis 9.6
37 stomatitis 9.6
38 pericarditis 9.6
39 aphthous stomatitis 9.6
40 pharyngitis 9.6
41 dermatitis 9.6
42 chronic graft versus host disease 9.6
43 histiocytosis 9.6
44 haemophilus influenzae 9.6
45 b-cell lymphomas 9.6
46 neurosyphilis 9.6
47 papular mucinosis 9.6
48 glomerulonephritis 9.6
49 keratopathy 9.6
50 granulomatous dermatitis 9.6

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



Diseases related to Iridogoniodysgenesis, Type 2

Symptoms & Phenotypes for Iridogoniodysgenesis, Type 2

Symptoms by clinical synopsis from OMIM:

137600

Clinical features from OMIM:

137600

Human phenotypes related to Iridogoniodysgenesis, Type 2:

32
id Description HPO Frequency HPO Source Accession
1 abnormality of the teeth 32 HP:0000164
2 abnormal facial shape 32 HP:0001999
3 glaucoma 32 HP:0000501
4 iris hypopigmentation 32 HP:0007730
5 hypoplastic iris stroma 32 HP:0007990

Drugs & Therapeutics for Iridogoniodysgenesis, Type 2

Search Clinical Trials , NIH Clinical Center for Iridogoniodysgenesis, Type 2

Genetic Tests for Iridogoniodysgenesis, Type 2

Anatomical Context for Iridogoniodysgenesis, Type 2

MalaCards organs/tissues related to Iridogoniodysgenesis, Type 2:

39
Eye

Publications for Iridogoniodysgenesis, Type 2

Variations for Iridogoniodysgenesis, Type 2

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

66
id Symbol AA change Variation ID SNP ID
1 PITX2 p.Arg130Trp VAR_003762 rs121909248
2 PITX2 p.Arg115His VAR_003765 rs104893861

ClinVar genetic disease variations for Iridogoniodysgenesis, Type 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PITX2 NM_153427.2(PITX2): c.250C> T (p.Arg84Trp) single nucleotide variant Pathogenic rs121909248 GRCh37 Chromosome 4, 111542322: 111542322
2 PITX2 NM_153426.2(PITX2): c.344G> A (p.Arg115His) single nucleotide variant Pathogenic rs104893861 GRCh37 Chromosome 4, 111542366: 111542366

Expression for Iridogoniodysgenesis, Type 2

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

Pathways for Iridogoniodysgenesis, Type 2

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

id Super pathways Score Top Affiliating Genes
1 10.29 FOXC1 PITX2

GO Terms for Iridogoniodysgenesis, Type 2

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

id Name GO ID Score Top Affiliating Genes
1 transcription from RNA polymerase II promoter GO:0006366 9.54 BARX1 FOXC1 PITX2
2 camera-type eye development GO:0043010 9.32 FOXC1 PITX2
3 odontogenesis of dentin-containing tooth GO:0042475 9.26 FOXC1 PITX2
4 spleen development GO:0048536 9.16 BARX1 PITX2
5 positive regulation of DNA binding GO:0043388 8.96 FOXC1 PITX2
6 digestive system development GO:0055123 8.62 BARX1 PITX2

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

id Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.26 FOXC1 PITX2
2 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.16 BARX1 FOXC1
3 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 8.96 BARX1 FOXC1
4 sequence-specific DNA binding GO:0043565 8.8 BARX1 FOXC1 PITX2

Sources for Iridogoniodysgenesis, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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