MCID: ANT071
MIFTS: 37

Anterior Segment Dysgenesis 4

Categories: Genetic diseases, Rare diseases, Fetal diseases, Eye diseases

Aliases & Classifications for Anterior Segment Dysgenesis 4

MalaCards integrated aliases for Anterior Segment Dysgenesis 4:

Name: Anterior Segment Dysgenesis 4 53 71
Iridogoniodysgenesis Syndrome 53 12 51 14
Iridogoniodysgenesis, Type 2 53 13 69
Iridogoniodysgenesis Type 2 12 49 71
Irid2 53 49 71
Iris Hypoplasia with Early-Onset Glaucoma, Autosomal Dominant 53 71
Iridogoniodysgenesis Type 1 12 49
Asgd4 53 71
Igds 53 12
Ihga 53 71
Iris Hypoplasia with Early-Onset Glaucoma, Autosomal Dominant; Ihga 53
Iridogoniodysgenesis Anomaly, Autosomal Dominant 49
Iridogoniodysgenesis, Type 2; Irid2 53
Iridogoniodysgenesis Syndrome; Igds 53
Iridogoniodysgenesis Syndrome 2 71
Iridogoniodysgenesis, Type 1 69
Igda Syndrome 49
Irid 1 12
Irid 2 12
Irid1 49
Igds2 71
Igda 49

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
anterior segment dysgenesis 4:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Anterior Segment Dysgenesis 4

OMIM : 53 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 abnormality of the dentition, glaucoma 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.

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.

NIH Rare Diseases : 49 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

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.

Related Diseases for Anterior Segment Dysgenesis 4

Diseases in the Anterior Segment Dysgenesis 2 family:

Anterior Segment Dysgenesis 1 Anterior Segment Dysgenesis 4
Anterior Segment Dysgenesis 7 Anterior Segment Dysgenesis 3
Anterior Segment Dysgenesis 5 Anterior Segment Dysgenesis 6
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 70)
# Related Disease Score Top Affiliating Genes
1 hyper-igd syndrome 12.5
2 selective igd deficiency disease 12.0
3 mevalonic aciduria 11.2
4 anterior segment dysgenesis 3 11.2
5 delta chain disease 10.9
6 kallmann syndrome 10.9
7 leukemia 10.2
8 amyloidosis 10.1
9 plasma cell leukemia 10.1
10 axenfeld-rieger syndrome, type 3 10.1 FOXC1 PITX2
11 hydrophthalmos 10.0 FOXC1 PITX2
12 intraocular pressure quantitative trait locus 10.0 FOXC1 PITX2
13 intestinal atresia 10.0 FOXC1 PITX2
14 iris disease 10.0 FOXC1 PITX2
15 primary congenital glaucoma 10.0 FOXC1 PITX2
16 familial mediterranean fever 10.0
17 lymphoma 10.0
18 brucellosis 10.0
19 persistent hyperplastic primary vitreous 10.0 FOXC1 PITX2
20 juvenile glaucoma 9.9 FOXC1 PITX2
21 glaucoma 3, primary congenital, a 9.9 FOXC1 PITX2
22 leukemia, chronic lymphocytic 2 9.9
23 leukemia, chronic lymphocytic 9.9
24 myeloma, multiple 9.9
25 persistent polyclonal b-cell lymphocytosis 9.9
26 b-cell expansion with nfkb and t-cell anergy 9.9
27 extramedullary plasmacytoma 9.9
28 plasmacytoma 9.9
29 al amyloidosis 9.9
30 leukemia, b-cell, chronic 9.9
31 axenfeld-rieger syndrome 9.9 FOXC1 PITX2
32 axenfeld-rieger syndrome, type 1 9.9
33 systemic lupus erythematosus 9.8
34 lymphoma, hodgkin, classic 9.8
35 heavy chain disease 9.8
36 dermatitis 9.8
37 granulomatous dermatitis 9.8
38 plasma cell neoplasm 9.8
39 lupus erythematosus 9.8
40 nodular lymphocyte predominant hodgkin lymphoma 9.8
41 aniridia 1 9.8 FOXC1 PITX2
42 hyperphosphatasia-intellectual disability syndrome 9.7 PIGO PIGW
43 axenfeld-rieger syndrome, type 2 9.7 ASB10 FOXC1 PITX2
44 periodic fever, familial, autosomal dominant 9.7
45 endosteal hyperostosis, autosomal dominant 9.7
46 myositis 9.7
47 pulmonary hemosiderosis 9.7
48 mitochondrial import-stimulating factor 9.7
49 graft-versus-host disease 9.7
50 membranous nephropathy 9.7

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:

53
Eyes:
glaucoma
hypoplastic iris stroma
light colored iris
goniodysgenesis


Clinical features from OMIM:

137600

Human phenotypes related to Anterior Segment Dysgenesis 4:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the dentition 31 hallmark (90%) HP:0000164
2 glaucoma 31 hallmark (90%) HP:0000501
3 abnormal facial shape 31 HP:0001999
4 iris hypopigmentation 31 hallmark (90%) HP:0007730
5 hypoplastic iris stroma 31 hallmark (90%) HP:0007990

Drugs & Therapeutics for Anterior Segment Dysgenesis 4

Search Clinical Trials , 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:

38
Eye

Publications for Anterior Segment Dysgenesis 4

Articles related to Anterior Segment Dysgenesis 4:

# Title Authors Year
1
Iridogoniodysgenesis syndrome: a case report. ( 19175065 )
2008
2
Histopathology and molecular basis of iridogoniodysgenesis syndrome. ( 10420192 )
1999
3
Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. ( 9618168 )
1998

Variations for Anterior Segment Dysgenesis 4

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

71
# 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
# 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
3 PITX2 NM_153427.2(PITX2): c.202dup (p.Thr68Asnfs) duplication Likely pathogenic GRCh37 Chromosome 4, 111542370: 111542370
4 PITX2 NC_000004.12: g.(?_110618181)_(110621345_?)del deletion Likely pathogenic GRCh37 Chromosome 4, 111539337: 111542501
5 PITX2 NM_153427.2(PITX2): c.253-2A> G single nucleotide variant Likely pathogenic GRCh37 Chromosome 4, 111539846: 111539846

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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 camera-type eye development GO:0043010 9.26 FOXC1 PITX2
2 odontogenesis of dentin-containing tooth GO:0042475 9.16 FOXC1 PITX2
3 GPI anchor biosynthetic process GO:0006506 8.96 PIGO PIGW
4 positive regulation of DNA binding GO:0043388 8.62 FOXC1 PITX2

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 8.62 FOXC1 PITX2

Sources for Anterior Segment Dysgenesis 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....