MCID: ANT071
MIFTS: 37

Anterior Segment Dysgenesis 4

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

Aliases & Classifications for Anterior Segment Dysgenesis 4

MalaCards integrated aliases for Anterior Segment Dysgenesis 4:

Name: Anterior Segment Dysgenesis 4 57 75
Iridogoniodysgenesis Syndrome 57 12 55 15
Iridogoniodysgenesis, Type 2 57 13 40 73
Iridogoniodysgenesis Type 2 12 53 75
Irid2 57 53 75
Iris Hypoplasia with Early-Onset Glaucoma, Autosomal Dominant 57 75
Iridogoniodysgenesis Type 1 12 53
Asgd4 57 75
Igds 57 12
Ihga 57 75
Iris Hypoplasia with Early-Onset Glaucoma, Autosomal Dominant; Ihga 57
Iridogoniodysgenesis Anomaly, Autosomal Dominant 53
Iridogoniodysgenesis, Type 2; Irid2 57
Iridogoniodysgenesis Syndrome; Igds 57
Iridogoniodysgenesis Syndrome 2 75
Iridogoniodysgenesis, Type 1 73
Igda Syndrome 53
Irid 1 12
Irid 2 12
Irid1 53
Igds2 75
Igda 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
anterior segment dysgenesis 4:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Anterior Segment Dysgenesis 4

OMIM : 57 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. 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, and related phenotypes are abnormality of the dentition and glaucoma

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 : 53 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.

UniProtKB/Swiss-Prot : 75 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 family:

Anterior Segment Dysgenesis 1 Anterior Segment Dysgenesis 4
Anterior Segment Dysgenesis 7 Anterior Segment Dysgenesis 3
Anterior Segment Dysgenesis 5 Anterior Segment Dysgenesis 2
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 72)
# Related Disease Score Top Affiliating Genes
1 hyper-igd syndrome 12.5
2 selective igd deficiency disease 12.0
3 anterior segment dysgenesis 3 11.4
4 mevalonic aciduria 11.2
5 interstitial granulomatous dermatitis with arthritis 11.0
6 delta chain disease 10.9
7 kallmann syndrome 10.9
8 myeloma, multiple 10.2
9 leukemia 10.2
10 amyloidosis 10.1
11 plasma cell leukemia 10.1
12 lymphoma 10.0
13 axenfeld-rieger syndrome, type 3 10.0 FOXC1 PITX2
14 hydrophthalmos 10.0 FOXC1 PITX2
15 intraocular pressure quantitative trait locus 10.0 FOXC1 PITX2
16 familial mediterranean fever 10.0
17 brucellosis 10.0
18 plasmacytoma 10.0
19 cornea plana 10.0 FOXC1 PITX2
20 intestinal atresia 9.9 FOXC1 PITX2
21 iris disease 9.9 FOXC1 PITX2
22 leukemia, chronic lymphocytic 2 9.9
23 leukemia, chronic lymphocytic 9.9
24 persistent polyclonal b-cell lymphocytosis 9.9
25 b-cell expansion with nfkb and t-cell anergy 9.9
26 extramedullary plasmacytoma 9.9
27 al amyloidosis 9.9
28 leukemia, b-cell, chronic 9.9
29 primary congenital glaucoma 9.9 FOXC1 PITX2
30 persistent hyperplastic primary vitreous 9.9 FOXC1 PITX2
31 juvenile glaucoma 9.8 FOXC1 PITX2
32 systemic lupus erythematosus 9.8
33 lymphoma, hodgkin, classic 9.8
34 heavy chain disease 9.8
35 dermatitis 9.8
36 granulomatous dermatitis 9.8
37 plasma cell neoplasm 9.8
38 lupus erythematosus 9.8
39 nodular lymphocyte predominant hodgkin lymphoma 9.8
40 glaucoma 3, primary congenital, a 9.8 FOXC1 PITX2
41 axenfeld-rieger syndrome 9.7 FOXC1 PITX2
42 hyperphosphatasia-intellectual disability syndrome 9.7 PIGO PIGW
43 burkitt lymphoma 9.7
44 periodic fever, familial, autosomal dominant 9.7
45 myositis 9.7
46 pulmonary hemosiderosis 9.7
47 graft-versus-host disease 9.7
48 membranous nephropathy 9.7
49 b-cell lymphomas 9.7
50 glomerulonephritis 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:

57
Eyes:
glaucoma
hypoplastic iris stroma
light colored iris
goniodysgenesis


Clinical features from OMIM:

137600

Human phenotypes related to Anterior Segment Dysgenesis 4:

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

41
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:

75
# 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
(show all 48)
# 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_153427.2(PITX2): c.250C> T (p.Arg84Trp) single nucleotide variant Pathogenic rs121909248 GRCh38 Chromosome 4, 110621166: 110621166
3 PITX2 NM_153426.2(PITX2): c.344G> A (p.Arg115His) single nucleotide variant Pathogenic rs104893861 GRCh37 Chromosome 4, 111542366: 111542366
4 PITX2 NM_153426.2(PITX2): c.344G> A (p.Arg115His) single nucleotide variant Pathogenic rs104893861 GRCh38 Chromosome 4, 110621210: 110621210
5 PITX2 NM_153427.2(PITX2): c.660G> A (p.Pro220=) single nucleotide variant Benign/Likely benign rs148191851 GRCh37 Chromosome 4, 111539437: 111539437
6 PITX2 NM_153427.2(PITX2): c.660G> A (p.Pro220=) single nucleotide variant Benign/Likely benign rs148191851 GRCh38 Chromosome 4, 110618281: 110618281
7 PITX2 NM_153427.2(PITX2): c.*454C> T single nucleotide variant Benign rs6533526 GRCh38 Chromosome 4, 110617671: 110617671
8 PITX2 NM_153427.2(PITX2): c.*454C> T single nucleotide variant Benign rs6533526 GRCh37 Chromosome 4, 111538827: 111538827
9 PITX2 NM_153427.2(PITX2): c.403G> A (p.Ala135Thr) single nucleotide variant Benign/Likely benign rs77144743 GRCh37 Chromosome 4, 111539694: 111539694
10 PITX2 NM_153427.2(PITX2): c.403G> A (p.Ala135Thr) single nucleotide variant Benign/Likely benign rs77144743 GRCh38 Chromosome 4, 110618538: 110618538
11 PITX2 NM_153427.2(PITX2): c.459T> G (p.Ser153=) single nucleotide variant Benign/Likely benign rs35946364 GRCh37 Chromosome 4, 111539638: 111539638
12 PITX2 NM_153427.2(PITX2): c.459T> G (p.Ser153=) single nucleotide variant Benign/Likely benign rs35946364 GRCh38 Chromosome 4, 110618482: 110618482
13 PITX2 NM_153427.2(PITX2): c.480A> T (p.Ser160=) single nucleotide variant Conflicting interpretations of pathogenicity rs141176394 GRCh37 Chromosome 4, 111539617: 111539617
14 PITX2 NM_153427.2(PITX2): c.480A> T (p.Ser160=) single nucleotide variant Conflicting interpretations of pathogenicity rs141176394 GRCh38 Chromosome 4, 110618461: 110618461
15 PITX2 NM_153427.2(PITX2): c.*572T> C single nucleotide variant Uncertain significance rs886059003 GRCh37 Chromosome 4, 111538709: 111538709
16 PITX2 NM_153427.2(PITX2): c.*572T> C single nucleotide variant Uncertain significance rs886059003 GRCh38 Chromosome 4, 110617553: 110617553
17 PITX2 NM_153427.2(PITX2): c.*376_*378delGTT deletion Uncertain significance rs886059004 GRCh37 Chromosome 4, 111538903: 111538905
18 PITX2 NM_153427.2(PITX2): c.*376_*378delGTT deletion Uncertain significance rs886059004 GRCh38 Chromosome 4, 110617747: 110617749
19 PITX2 NM_153427.2(PITX2): c.*340A> G single nucleotide variant Likely benign rs551209662 GRCh37 Chromosome 4, 111538941: 111538941
20 PITX2 NM_153427.2(PITX2): c.*340A> G single nucleotide variant Likely benign rs551209662 GRCh38 Chromosome 4, 110617785: 110617785
21 PITX2 NM_153427.2(PITX2): c.*370G> C single nucleotide variant Uncertain significance rs886059005 GRCh37 Chromosome 4, 111538911: 111538911
22 PITX2 NM_153427.2(PITX2): c.*370G> C single nucleotide variant Uncertain significance rs886059005 GRCh38 Chromosome 4, 110617755: 110617755
23 PITX2 NM_153427.2(PITX2): c.*264A> C single nucleotide variant Uncertain significance rs886059006 GRCh37 Chromosome 4, 111539017: 111539017
24 PITX2 NM_153427.2(PITX2): c.*264A> C single nucleotide variant Uncertain significance rs886059006 GRCh38 Chromosome 4, 110617861: 110617861
25 PITX2 NM_153427.2(PITX2): c.253-11delA deletion Uncertain significance rs886059007 GRCh37 Chromosome 4, 111539855: 111539855
26 PITX2 NM_153427.2(PITX2): c.253-11delA deletion Uncertain significance rs886059007 GRCh38 Chromosome 4, 110618699: 110618699
27 PITX2 NM_153427.2(PITX2): c.*611A> G single nucleotide variant Uncertain significance rs886059002 GRCh38 Chromosome 4, 110617514: 110617514
28 PITX2 NM_153427.2(PITX2): c.*611A> G single nucleotide variant Uncertain significance rs886059002 GRCh37 Chromosome 4, 111538670: 111538670
29 PITX2 NM_153427.2(PITX2): c.*522T> C single nucleotide variant Uncertain significance rs188349821 GRCh37 Chromosome 4, 111538759: 111538759
30 PITX2 NM_153427.2(PITX2): c.*522T> C single nucleotide variant Uncertain significance rs188349821 GRCh38 Chromosome 4, 110617603: 110617603
31 PITX2 NM_153427.2(PITX2): c.*471G> A single nucleotide variant Likely benign rs75911264 GRCh37 Chromosome 4, 111538810: 111538810
32 PITX2 NM_153427.2(PITX2): c.*471G> A single nucleotide variant Likely benign rs75911264 GRCh38 Chromosome 4, 110617654: 110617654
33 PITX2 NM_153427.2(PITX2): c.*176A> T single nucleotide variant Likely benign rs567517676 GRCh37 Chromosome 4, 111539105: 111539105
34 PITX2 NM_153427.2(PITX2): c.*176A> T single nucleotide variant Likely benign rs567517676 GRCh38 Chromosome 4, 110617949: 110617949
35 PITX2 NM_153427.2(PITX2): c.*119T> A single nucleotide variant Uncertain significance rs765040142 GRCh37 Chromosome 4, 111539162: 111539162
36 PITX2 NM_153427.2(PITX2): c.*119T> A single nucleotide variant Uncertain significance rs765040142 GRCh38 Chromosome 4, 110618006: 110618006
37 PITX2 NM_153427.2(PITX2): c.703C> T (p.Leu235=) single nucleotide variant Likely benign rs139401187 GRCh37 Chromosome 4, 111539394: 111539394
38 PITX2 NM_153427.2(PITX2): c.703C> T (p.Leu235=) single nucleotide variant Likely benign rs139401187 GRCh38 Chromosome 4, 110618238: 110618238
39 PITX2 NM_153427.2(PITX2): c.65A> C (p.Gln22Pro) single nucleotide variant Likely benign rs201628949 GRCh37 Chromosome 4, 111542507: 111542507
40 PITX2 NM_153427.2(PITX2): c.65A> C (p.Gln22Pro) single nucleotide variant Likely benign rs201628949 GRCh38 Chromosome 4, 110621351: 110621351
41 PITX2 NM_153427.2(PITX2): c.47-9C> T single nucleotide variant Benign rs367757020 GRCh38 Chromosome 4, 110621378: 110621378
42 PITX2 NM_153427.2(PITX2): c.47-9C> T single nucleotide variant Benign rs367757020 GRCh37 Chromosome 4, 111542534: 111542534
43 PITX2 NM_153427.2(PITX2): c.202dup (p.Thr68Asnfs) duplication Likely pathogenic GRCh38 Chromosome 4, 110621214: 110621214
44 PITX2 NM_153427.2(PITX2): c.202dup (p.Thr68Asnfs) duplication Likely pathogenic GRCh37 Chromosome 4, 111542370: 111542370
45 PITX2 NC_000004.12: g.(?_110618181)_(110621345_?)del deletion Likely pathogenic GRCh38 Chromosome 4, 110618181: 110621345
46 PITX2 NC_000004.12: g.(?_110618181)_(110621345_?)del deletion Likely pathogenic GRCh37 Chromosome 4, 111539337: 111542501
47 PITX2 NM_153427.2(PITX2): c.253-2A> G single nucleotide variant Likely pathogenic GRCh38 Chromosome 4, 110618690: 110618690
48 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 in utero embryonic development GO:0001701 9.37 FOXC1 PITX2
2 anatomical structure morphogenesis GO:0009653 9.32 FOXC1 PITX2
3 camera-type eye development GO:0043010 9.26 FOXC1 PITX2
4 odontogenesis of dentin-containing tooth GO:0042475 9.16 FOXC1 PITX2
5 GPI anchor biosynthetic process GO:0006506 8.96 PIGO PIGW
6 positive regulation of DNA binding GO:0043388 8.62 FOXC1 PITX2

Sources for Anterior Segment Dysgenesis 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....