MCID: ANT071
MIFTS: 33

Anterior Segment Dysgenesis 4

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Anterior Segment Dysgenesis 4

MalaCards integrated aliases for Anterior Segment Dysgenesis 4:

Name: Anterior Segment Dysgenesis 4 54 71
Iridogoniodysgenesis Syndrome 12 52 14
Iridogoniodysgenesis Type 2 12 50 71
Irid1 50 24 52
Iridogoniodysgenesis, Type 1 24 69
Iridogoniodysgenesis, Type 2 13 69
Iridogoniodysgenesis Type 1 12 50
Irid2 50 71
Iris Hypoplasia with Early-Onset Glaucoma, Autosomal Dominant 71
Iridogoniodysgenesis Anomaly, Autosomal Dominant 50
Iridogoniodysgenesis Syndrome 2 71
Igda Syndrome 50
Irid 1 12
Irid 2 12
Igds2 71
Asgd4 71
Igds 12
Igda 50
Ihga 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
anterior segment dysgenesis 4:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Anterior Segment Dysgenesis 4

OMIM : 54
Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016). Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see 106210), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002). Patients with ASGD4 have been reported with iridogoniodysgenesis or Peters anomaly subtypes. Iridogoniodysgenesis, which is characterized by iris hypoplasia, goniodysgenesis, and juvenile glaucoma, is the result of aberrant migration or terminal induction of the neural crest cells involved in the formation of the anterior segment of the eye (summary by Mears et al., 1996). Peters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea (Peters, 1906). (137600)

MalaCards based summary : Anterior Segment Dysgenesis 4, also known as iridogoniodysgenesis syndrome, is related to hyper-igd syndrome and selective igd deficiency disease, and has symptoms including glaucoma, hypoplastic iris stroma and abnormal facial shape. An important gene associated with Anterior Segment Dysgenesis 4 is PITX2 (Paired Like Homeodomain 2), and among its related pathways/superpathways are Post-translational modification- synthesis of GPI-anchored proteins and 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

UniProtKB/Swiss-Prot : 71 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.

Related Diseases for Anterior Segment Dysgenesis 4

Diseases in the Anterior Segment Dysgenesis 4 family:

Anterior Segment Dysgenesis 8

Diseases related to Anterior Segment Dysgenesis 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)
id Related Disease Score Top Affiliating Genes
1 hyper-igd syndrome 12.3
2 selective igd deficiency disease 11.8
3 mevalonic aciduria 11.1
4 anterior segment dysgenesis 3, multiple subtypes 11.1
5 delta chain disease 10.8
6 kallmann syndrome 10.8
7 larsen-like syndrome 10.2 FOXC1 PITX2
8 conjunctival folliculosis 10.2 FOXC1 PITX2
9 mitral valve prolapse, myxomatous 3 10.2 FOXC1 PITX2
10 adrenal cortical hypofunction 10.1 FOXC1 PITX2
11 skin granular cell tumor 10.1 FOXC1 PITX2
12 leukemia 10.1
13 isolated microphthalmia 10.1 FOXC1 PITX2
14 taeniasis 10.1 FOXC1 PITX2
15 parietal foramina 10.0 FOXC1 PITX2
16 amyloidosis 10.0
17 plasma cell leukemia 10.0
18 glaucoma 3a, primary open angle, congenital, juvenile, or adult onset 10.0 FOXC1 PITX2
19 lactocele 9.9 FOXC1 PITX2
20 type i ehlers-danlos syndrome 9.9 FOXC1 PITX2
21 nail disorder, nonsyndromic congenital, 1 9.9 FOXC1 PITX2
22 lymphoma 9.9
23 multiple myeloma 9.8
24 al amyloidosis 9.8
25 persistent polyclonal b-cell lymphocytosis 9.8
26 chronic lymphocytic leukemia 9.8
27 extramedullary plasmacytoma 9.8
28 plasmacytoma 9.8
29 breast-ovarian cancer, familial, 2 9.8 FOXC1 PITX2
30 granulomatous dermatitis 9.7
31 nodular lymphocyte predominant hodgkin lymphoma 9.7
32 plasma cell neoplasm 9.7
33 heavy chain disease 9.7
34 systemic lupus erythematosus 9.7
35 lupus erythematosus 9.7
36 hodgkin lymphoma 9.7
37 dermatitis 9.7
38 low grade ependymoma 9.7 PIGO PIGW
39 hypertrichosis universalis congenita 9.6 PIGO PIGW
40 anterior segment dysgenesis 5, multiple subtypes 9.6 FOXC1 PITX2
41 keratopathy 9.6
42 superior vena cava syndrome 9.6
43 myositis 9.6
44 splenic marginal zone lymphoma 9.6
45 heavy chain deposition disease 9.6
46 influenza 9.6
47 pulmonary hemosiderosis 9.6
48 pityriasis rosea 9.6
49 hemosiderosis 9.6
50 membranous nephropathy 9.6

Graphical network of the top 20 diseases related to Anterior Segment Dysgenesis 4:



Diseases related to Anterior Segment Dysgenesis 4

Symptoms & Phenotypes for Anterior Segment Dysgenesis 4

Symptoms via clinical synopsis from OMIM:

54

Eyes:
goniodysgenesis
light colored iris
hypoplastic iris stroma
glaucoma


Clinical features from OMIM:

137600

Human phenotypes related to Anterior Segment Dysgenesis 4:

32
id Description HPO Frequency HPO Source Accession
1 glaucoma 32 hallmark (90%) HP:0000501
2 hypoplastic iris stroma 32 hallmark (90%) HP:0007990
3 abnormal facial shape 32 HP:0001999
4 iris hypopigmentation 32 hallmark (90%) HP:0007730
5 abnormality of the dentition 32 hallmark (90%) HP:0000164

Drugs & Therapeutics for Anterior Segment Dysgenesis 4

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Myometrial Thickness as a Predictor for the Latency Interval in PPROM Unknown status NCT02380560
2 A Novel Congenital Cataract Category System Completed NCT02793869
3 Genetic Findings in a Chinese Family With Axenfeld-Rieger Syndrom Completed NCT03009188

Search NIH Clinical Center for Anterior Segment Dysgenesis 4

Genetic Tests for Anterior Segment Dysgenesis 4

Anatomical Context for Anterior Segment Dysgenesis 4

MalaCards organs/tissues related to Anterior Segment Dysgenesis 4:

39
Eye

Publications for Anterior Segment Dysgenesis 4

Variations for Anterior Segment Dysgenesis 4

UniProtKB/Swiss-Prot genetic disease variations for Anterior Segment Dysgenesis 4:

71
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 Anterior Segment Dysgenesis 4:

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 Anterior Segment Dysgenesis 4

Search GEO for disease gene expression data for Anterior Segment Dysgenesis 4.

Pathways for Anterior Segment Dysgenesis 4

Pathways related to Anterior Segment Dysgenesis 4 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.15 PIGO PIGW
2 10.62 FOXC1 PITX2
3
Show member pathways
10.24 PIGO PIGW

GO Terms for Anterior Segment Dysgenesis 4

Biological processes related to Anterior Segment Dysgenesis 4 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcription from RNA polymerase II promoter GO:0006366 9.58 BARX1 FOXC1 PITX2
2 camera-type eye development GO:0043010 9.37 FOXC1 PITX2
3 odontogenesis of dentin-containing tooth GO:0042475 9.32 FOXC1 PITX2
4 spleen development GO:0048536 9.26 BARX1 PITX2
5 GPI anchor biosynthetic process GO:0006506 9.16 PIGO PIGW
6 positive regulation of DNA binding GO:0043388 8.96 FOXC1 PITX2
7 digestive system development GO:0055123 8.62 BARX1 PITX2

Molecular functions related to Anterior Segment Dysgenesis 4 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 9.16 FOXC1 PITX2
2 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 8.96 BARX1 FOXC1
3 sequence-specific DNA binding GO:0043565 8.8 BARX1 FOXC1 PITX2

Sources for Anterior Segment Dysgenesis 4

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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