ASGD4
MCID: ANT071
MIFTS: 37

Anterior Segment Dysgenesis 4 (ASGD4)

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

Aliases & Classifications for Anterior Segment Dysgenesis 4

MalaCards integrated aliases for Anterior Segment Dysgenesis 4:

Name: Anterior Segment Dysgenesis 4 58 76
Iridogoniodysgenesis Syndrome 58 12 56 15
Iridogoniodysgenesis, Type 2 58 13 41 74
Iridogoniodysgenesis Type 2 12 54 76
Irid2 58 54 76
Iris Hypoplasia with Early-Onset Glaucoma, Autosomal Dominant 58 76
Iridogoniodysgenesis Type 1 12 54
Asgd4 58 76
Igds 58 12
Ihga 58 76
Iris Hypoplasia with Early-Onset Glaucoma, Autosomal Dominant; Ihga 58
Iridogoniodysgenesis Anomaly, Autosomal Dominant 54
Iridogoniodysgenesis, Type 2; Irid2 58
Iridogoniodysgenesis Syndrome; Igds 58
Iridogoniodysgenesis Syndrome 2 76
Iridogoniodysgenesis, Type 1 74
Igda Syndrome 54
Irid 1 12
Irid 2 12
Irid1 54
Igds2 76
Igda 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
anterior segment dysgenesis 4:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Anterior Segment Dysgenesis 4

OMIM : 58 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 : 54 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 : 76 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
Autosomal Recessive Anterior Segment Dysgenesis

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

(show top 50) (show all 114)
# Related Disease Score Top Affiliating Genes
1 hyper-igd syndrome 12.7
2 selective igd deficiency disease 12.4
3 mevalonic aciduria 11.4
4 anterior segment dysgenesis 3 11.4
5 delta chain disease 11.1
6 kallmann syndrome 11.1
7 interstitial granulomatous dermatitis with arthritis 11.1
8 myeloma, multiple 10.4
9 leukemia 10.3
10 amyloidosis 10.2
11 lymphoma 10.2
12 plasma cell leukemia 10.2
13 plasmacytoma 10.2
14 rheumatoid arthritis 10.1
15 familial mediterranean fever 10.1
16 arthritis 10.1
17 leukemia, chronic lymphocytic 2 10.1
18 leukemia, chronic lymphocytic 10.1
19 lymphocytic leukemia 10.1
20 dermatitis 10.1
21 leukemia, b-cell, chronic 10.1
22 anterior segment dysgenesis 10.1 FOXC1 PITX2
23 hydrophthalmos 10.0 FOXC1 PITX2
24 axenfeld-rieger syndrome, type 3 10.0 FOXC1 PITX2
25 intestinal atresia 10.0 FOXC1 PITX2
26 myelofibrosis 10.0
27 persistent polyclonal b-cell lymphocytosis 10.0
28 b-cell expansion with nfkb and t-cell anergy 10.0
29 extramedullary plasmacytoma 10.0
30 juvenile rheumatoid arthritis 10.0
31 al amyloidosis 10.0
32 iris disease 10.0 FOXC1 PITX2
33 primary congenital glaucoma 10.0 FOXC1 PITX2
34 persistent hyperplastic primary vitreous 10.0 FOXC1 PITX2
35 juvenile glaucoma 9.9 FOXC1 PITX2
36 glaucoma 3, primary congenital, a 9.9 FOXC1 PITX2
37 systemic lupus erythematosus 9.9
38 pelger-huet anomaly 9.9
39 lymphoma, hodgkin, classic 9.9
40 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.9
41 aspergillosis 9.9
42 b-cell lymphomas 9.9
43 common variable immunodeficiency 9.9
44 follicular lymphoma 9.9
45 joint disorders 9.9
46 immunoglobulin alpha deficiency 9.9
47 heavy chain disease 9.9
48 allergic bronchopulmonary aspergillosis 9.9
49 gaucher's disease 9.9
50 arthropathy 9.9

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

Human phenotypes related to Anterior Segment Dysgenesis 4:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of the dentition 33 hallmark (90%) HP:0000164
2 glaucoma 33 hallmark (90%) HP:0000501
3 iris hypopigmentation 33 hallmark (90%) HP:0007730
4 hypoplastic iris stroma 33 hallmark (90%) HP:0007990
5 abnormal facial shape 33 HP:0001999

Symptoms via clinical synopsis from OMIM:

58
Eyes:
glaucoma
hypoplastic iris stroma
light colored iris
goniodysgenesis

Clinical features from OMIM:

137600

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:

42
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:

76
# 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.660G> A (p.Pro220=) single nucleotide variant Benign/Likely benign rs148191851 GRCh37 Chromosome 4, 111539437: 111539437
2 PITX2 NM_153427.2(PITX2): c.660G> A (p.Pro220=) single nucleotide variant Benign/Likely benign rs148191851 GRCh38 Chromosome 4, 110618281: 110618281
3 PITX2 NM_153427.2(PITX2): c.*454C> T single nucleotide variant Benign rs6533526 GRCh38 Chromosome 4, 110617671: 110617671
4 PITX2 NM_153427.2(PITX2): c.*454C> T single nucleotide variant Benign rs6533526 GRCh37 Chromosome 4, 111538827: 111538827
5 PITX2 NM_153427.2(PITX2): c.403G> A (p.Ala135Thr) single nucleotide variant Benign/Likely benign rs77144743 GRCh37 Chromosome 4, 111539694: 111539694
6 PITX2 NM_153427.2(PITX2): c.403G> A (p.Ala135Thr) single nucleotide variant Benign/Likely benign rs77144743 GRCh38 Chromosome 4, 110618538: 110618538
7 PITX2 NM_153427.2(PITX2): c.250C> T (p.Arg84Trp) single nucleotide variant Pathogenic rs121909248 GRCh37 Chromosome 4, 111542322: 111542322
8 PITX2 NM_153427.2(PITX2): c.250C> T (p.Arg84Trp) single nucleotide variant Pathogenic rs121909248 GRCh38 Chromosome 4, 110621166: 110621166
9 PITX2 NM_153426.2(PITX2): c.344G> A (p.Arg115His) single nucleotide variant Pathogenic rs104893861 GRCh37 Chromosome 4, 111542366: 111542366
10 PITX2 NM_153426.2(PITX2): c.344G> A (p.Arg115His) single nucleotide variant Pathogenic rs104893861 GRCh38 Chromosome 4, 110621210: 110621210
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 GRCh38 Chromosome 4, 110617553: 110617553
16 PITX2 NM_153427.2(PITX2): c.*572T> C single nucleotide variant Uncertain significance rs886059003 GRCh37 Chromosome 4, 111538709: 111538709
17 PITX2 NM_153427.2(PITX2): c.*376_*378delGTT deletion Uncertain significance rs886059004 GRCh38 Chromosome 4, 110617747: 110617749
18 PITX2 NM_153427.2(PITX2): c.*376_*378delGTT deletion Uncertain significance rs886059004 GRCh37 Chromosome 4, 111538903: 111538905
19 PITX2 NM_153427.2(PITX2): c.*340A> G single nucleotide variant Likely benign rs551209662 GRCh38 Chromosome 4, 110617785: 110617785
20 PITX2 NM_153427.2(PITX2): c.*340A> G single nucleotide variant Likely benign rs551209662 GRCh37 Chromosome 4, 111538941: 111538941
21 PITX2 NM_153427.2(PITX2): c.*370G> C single nucleotide variant Uncertain significance rs886059005 GRCh38 Chromosome 4, 110617755: 110617755
22 PITX2 NM_153427.2(PITX2): c.*370G> C single nucleotide variant Uncertain significance rs886059005 GRCh37 Chromosome 4, 111538911: 111538911
23 PITX2 NM_153427.2(PITX2): c.*264A> C single nucleotide variant Uncertain significance rs886059006 GRCh38 Chromosome 4, 110617861: 110617861
24 PITX2 NM_153427.2(PITX2): c.*264A> C single nucleotide variant Uncertain significance rs886059006 GRCh37 Chromosome 4, 111539017: 111539017
25 PITX2 NM_153427.2(PITX2): c.253-11delA deletion Uncertain significance rs886059007 GRCh38 Chromosome 4, 110618699: 110618699
26 PITX2 NM_153427.2(PITX2): c.253-11delA deletion Uncertain significance rs886059007 GRCh37 Chromosome 4, 111539855: 111539855
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 GRCh38 Chromosome 4, 110617603: 110617603
30 PITX2 NM_153427.2(PITX2): c.*522T> C single nucleotide variant Uncertain significance rs188349821 GRCh37 Chromosome 4, 111538759: 111538759
31 PITX2 NM_153427.2(PITX2): c.*471G> A single nucleotide variant Likely benign rs75911264 GRCh38 Chromosome 4, 110617654: 110617654
32 PITX2 NM_153427.2(PITX2): c.*471G> A single nucleotide variant Likely benign rs75911264 GRCh37 Chromosome 4, 111538810: 111538810
33 PITX2 NM_153427.2(PITX2): c.*176A> T single nucleotide variant Likely benign rs567517676 GRCh38 Chromosome 4, 110617949: 110617949
34 PITX2 NM_153427.2(PITX2): c.*176A> T single nucleotide variant Likely benign rs567517676 GRCh37 Chromosome 4, 111539105: 111539105
35 PITX2 NM_153427.2(PITX2): c.*119T> A single nucleotide variant Uncertain significance rs765040142 GRCh38 Chromosome 4, 110618006: 110618006
36 PITX2 NM_153427.2(PITX2): c.*119T> A single nucleotide variant Uncertain significance rs765040142 GRCh37 Chromosome 4, 111539162: 111539162
37 PITX2 NM_153427.2(PITX2): c.703C> T (p.Leu235=) single nucleotide variant Likely benign rs139401187 GRCh38 Chromosome 4, 110618238: 110618238
38 PITX2 NM_153427.2(PITX2): c.703C> T (p.Leu235=) single nucleotide variant Likely benign rs139401187 GRCh37 Chromosome 4, 111539394: 111539394
39 PITX2 NM_153427.2(PITX2): c.65A> C (p.Gln22Pro) single nucleotide variant Likely benign rs201628949 GRCh38 Chromosome 4, 110621351: 110621351
40 PITX2 NM_153427.2(PITX2): c.65A> C (p.Gln22Pro) single nucleotide variant Likely benign rs201628949 GRCh37 Chromosome 4, 111542507: 111542507
41 PITX2 NM_153427.2(PITX2): c.47-9C> T single nucleotide variant Benign/Likely benign rs367757020 GRCh38 Chromosome 4, 110621378: 110621378
42 PITX2 NM_153427.2(PITX2): c.47-9C> T single nucleotide variant Benign/Likely benign rs367757020 GRCh37 Chromosome 4, 111542534: 111542534
43 PITX2 NM_153427.2(PITX2): c.202dup (p.Thr68Asnfs) duplication Likely pathogenic rs1553922891 GRCh38 Chromosome 4, 110621214: 110621214
44 PITX2 NM_153427.2(PITX2): c.202dup (p.Thr68Asnfs) duplication Likely pathogenic rs1553922891 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 rs1553922583 GRCh38 Chromosome 4, 110618690: 110618690
48 PITX2 NM_153427.2(PITX2): c.253-2A> G single nucleotide variant Likely pathogenic rs1553922583 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 anatomical structure morphogenesis GO:0009653 9.16 FOXC1 PITX2
2 camera-type eye development GO:0043010 8.96 FOXC1 PITX2
3 GPI anchor biosynthetic process GO:0006506 8.62 PIGO PIGW

Sources for Anterior Segment Dysgenesis 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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