ASGD4
MCID: ANT071
MIFTS: 42

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 56 73
Iridogoniodysgenesis Syndrome 56 12 54 15
Iridogoniodysgenesis, Type 2 56 13 39 71
Iridogoniodysgenesis Type 2 12 52 73
Irid2 56 52 73
Iris Hypoplasia with Early-Onset Glaucoma, Autosomal Dominant 56 73
Iridogoniodysgenesis Type 1 12 52
Asgd4 56 73
Irid1 52 54
Igds 56 12
Ihga 56 73
Iris Hypoplasia with Early-Onset Glaucoma, Autosomal Dominant; Ihga 56
Iridogoniodysgenesis Anomaly, Autosomal Dominant 52
Iridogoniodysgenesis, Type 2; Irid2 56
Iridogoniodysgenesis Syndrome; Igds 56
Iridogoniodysgenesis Syndrome 2 73
Iridogoniodysgenesis, Type 1 71
Igda Syndrome 52
Irid 1 12
Irid 2 12
Igds2 73
Igda 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
anterior segment dysgenesis 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050786
OMIM 56 137600
OMIM Phenotypic Series 56 PS107250
MeSH 43 D005124
MedGen 41 C1842031
UMLS 71 C1842031 C1866560

Summaries for Anterior Segment Dysgenesis 4

OMIM : 56 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 axenfeld-rieger syndrome and juvenile glaucoma. An important gene associated with Anterior Segment Dysgenesis 4 is PITX2 (Paired Like Homeodomain 2), and among its related pathways/superpathways are Metabolism of proteins and Post-translational modification- synthesis of GPI-anchored proteins. Affiliated tissues include eye, b cells and bone, and related phenotypes are abnormality of the dentition and glaucoma

Disease Ontology : 12 An iris 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 : 52 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 : 73 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 309)
# Related Disease Score Top Affiliating Genes
1 axenfeld-rieger syndrome 30.4 PITX2 FOXC1 ASB10
2 juvenile glaucoma 30.3 PITX2 FOXC1 CRYAA
3 axenfeld-rieger syndrome, type 1 30.0 PITX2 FOXC1 CRYAA ASB10
4 iga glomerulonephritis 29.0 PIGN PIGA
5 hyper-igd syndrome 12.8
6 selective igd deficiency disease 12.5
7 mevalonic aciduria 12.1
8 interstitial granulomatous dermatitis with arthritis 11.9
9 anterior segment dysgenesis 3 11.5
10 delta chain disease 11.2
11 kallmann syndrome 11.2
12 myeloma, multiple 10.8
13 amyloidosis 10.5
14 plasmacytoma 10.5
15 anterior segment dysgenesis 10.4 PITX2 FOXC1
16 familial mediterranean fever 10.4
17 lymphoma 10.3
18 plasma cell leukemia 10.3
19 acquired color blindness 10.3 PITX2 FOXC1
20 hydrophthalmos 10.3 PITX2 FOXC1
21 leukemia 10.3
22 acute kidney failure 10.3
23 axenfeld-rieger syndrome, type 3 10.2 PITX2 FOXC1
24 autoimmune disease 10.2
25 dermatitis 10.2
26 kidney disease 10.2
27 megalocornea 10.2 PITX2 FOXC1
28 anodontia 10.2
29 leukemia, chronic lymphocytic 10.2
30 immune deficiency disease 10.2
31 lymphocytic leukemia 10.2
32 systemic lupus erythematosus 10.2
33 myelofibrosis 10.2
34 immunoglobulin alpha deficiency 10.2
35 plasma cell neoplasm 10.2
36 47,xyy 10.2
37 splenomegaly 10.2
38 intestinal atresia 10.2 PITX2 FOXC1
39 sclerocornea 10.2 PITX2 FOXC1 CRYAA
40 cornea plana 10.2 PITX2 FOXC1 CRYAA
41 iris disease 10.2 PITX2 FOXC1 CRYAA
42 rheumatoid arthritis 10.2
43 autosomal recessive disease 10.2
44 diarrhea 10.2
45 agammaglobulinemia 10.2
46 b-cell lymphoma 10.2
47 al amyloidosis 10.2
48 aniridia 1 10.1 PITX2 FOXC1 CRYAA
49 persistent hyperplastic primary vitreous 10.1 PITX2 FOXC1
50 glycosylphosphatidylinositol biosynthesis defect 1 10.1 PIGW PIGM

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:

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 iris hypopigmentation 31 hallmark (90%) HP:0007730
4 hypoplastic iris stroma 31 hallmark (90%) HP:0007990
5 abnormal facial shape 31 HP:0001999

Symptoms via clinical synopsis from OMIM:

56
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:

40
Eye, B Cells, Bone, Kidney, T Cells, Bone Marrow, Thymus

Publications for Anterior Segment Dysgenesis 4

Articles related to Anterior Segment Dysgenesis 4:

(show all 16)
# Title Authors PMID Year
1
Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. 54 56 6
9618168 1998
2
Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. 56 6
9437321 1998
3
Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). 56 6
7581385 1995
4
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis. 56
27839872 2016
5
Anterior segment dysgenesis and the developmental glaucomas are complex traits. 56
12015278 2002
6
A mutation in the RIEG1 gene associated with Peters' anomaly. 56
10051017 1999
7
Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25. 56
8940278 1996
8
Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct. 6
8942889 1996
9
Congenital glaucoma due to dominant goniodysgenesis. A new concept of the heredity of glaucoma. 56
6881141 1983
10
Dominant goniodysgenesis with late congenital glaucoma. A re-examination of Berg's pedigree. 56
4624765 1972
11
Familial hypoplasia of the iris stroma associated with glaucoma. 56
5804028 1969
12
Iridoschisis as a cause of glaucoma. 56
14771214 1950
13
Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. 54
10937553 2000
14
An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2alpha that affects anterior eye chamber development. 54
10507730 1999
15
Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. 54
9792859 1998
16
Complex microphthalmos. 61
2818283 1989

Variations for Anterior Segment Dysgenesis 4

ClinVar genetic disease variations for Anterior Segment Dysgenesis 4:

6 (show all 27) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PITX2 NM_000325.6(PITX2):c.409C>T (p.Arg137Trp)SNV Pathogenic 8089 rs121909248 4:111542322-111542322 4:110621166-110621166
2 PITX2 NM_000325.6(PITX2):c.365G>A (p.Arg122His)SNV Pathogenic 8090 rs104893861 4:111542366-111542366 4:110621210-110621210
3 PITX2 NM_000325.6(PITX2):c.534C>G (p.Tyr178Ter)SNV Pathogenic 639456 4:111539722-111539722 4:110618566-110618566
4 PITX2 NM_000325.6(PITX2):c.416G>C (p.Trp139Ser)SNV Pathogenic 647394 4:111539840-111539840 4:110618684-110618684
5 PITX2 NM_000325.6(PITX2):c.411+2T>GSNV Pathogenic 662470 4:111542318-111542318 4:110621162-110621162
6 PITX2 NM_000325.6(PITX2):c.361dup (p.Thr121fs)duplication Likely pathogenic 474010 rs1553922891 4:111542369-111542370 4:110621213-110621214
7 PITX2 NC_000004.11:g.(?_111539337)_(111542501_?)deldeletion Likely pathogenic 474009 4:111539337-111542501 4:110618181-110621345
8 PITX2 NM_000325.6(PITX2):c.412-2A>GSNV Likely pathogenic 474011 rs1553922583 4:111539846-111539846 4:110618690-110618690
9 PITX2 NM_000325.6(PITX2):c.639A>T (p.Ser213=)SNV Conflicting interpretations of pathogenicity 283383 rs141176394 4:111539617-111539617 4:110618461-110618461
10 PITX2 NM_000325.6(PITX2):c.*572T>CSNV Uncertain significance 347289 rs886059003 4:111538709-111538709 4:110617553-110617553
11 PITX2 NM_000325.6(PITX2):c.*373_*375GTT[1]short repeat Uncertain significance 347292 rs886059004 4:111538903-111538905 4:110617747-110617749
12 PITX2 NM_000325.6(PITX2):c.916G>A (p.Val306Met)SNV Uncertain significance 648326 4:111539340-111539340 4:110618184-110618184
13 PITX2 NM_000325.6(PITX2):c.*370G>CSNV Uncertain significance 347293 rs886059005 4:111538911-111538911 4:110617755-110617755
14 PITX2 NM_000325.6(PITX2):c.*264A>CSNV Uncertain significance 347295 rs886059006 4:111539017-111539017 4:110617861-110617861
15 PITX2 NM_000325.6(PITX2):c.412-11deldeletion Uncertain significance 347299 rs886059007 4:111539855-111539855 4:110618699-110618699
16 PITX2 NM_000325.6(PITX2):c.*611A>GSNV Uncertain significance 347288 rs886059002 4:111538670-111538670 4:110617514-110617514
17 PITX2 NM_000325.6(PITX2):c.*522T>CSNV Uncertain significance 347290 rs188349821 4:111538759-111538759 4:110617603-110617603
18 PITX2 NM_000325.6(PITX2):c.*119T>ASNV Uncertain significance 347297 rs765040142 4:111539162-111539162 4:110618006-110618006
19 PITX2 NM_000325.6(PITX2):c.862C>T (p.Leu288=)SNV Likely benign 347298 rs139401187 4:111539394-111539394 4:110618238-110618238
20 PITX2 NM_000325.6(PITX2):c.224A>C (p.Gln75Pro)SNV Likely benign 347300 rs201628949 4:111542507-111542507 4:110621351-110621351
21 PITX2 NM_000325.6(PITX2):c.*471G>ASNV Likely benign 347291 rs75911264 4:111538810-111538810 4:110617654-110617654
22 PITX2 NM_000325.6(PITX2):c.*176A>TSNV Likely benign 347296 rs567517676 4:111539105-111539105 4:110617949-110617949
23 PITX2 NM_000325.6(PITX2):c.*340A>GSNV Likely benign 347294 rs551209662 4:111538941-111538941 4:110617785-110617785
24 PITX2 NM_000325.6(PITX2):c.618T>G (p.Ser206=)SNV Benign/Likely benign 262718 rs35946364 4:111539638-111539638 4:110618482-110618482
25 PITX2 NM_000325.6(PITX2):c.819G>A (p.Pro273=)SNV Benign/Likely benign 167472 rs148191851 4:111539437-111539437 4:110618281-110618281
26 PITX2 NM_000325.6(PITX2):c.562G>A (p.Ala188Thr)SNV Benign/Likely benign 197884 rs77144743 4:111539694-111539694 4:110618538-110618538
27 PITX2 NM_000325.6(PITX2):c.*454C>TSNV Benign 183253 rs6533526 4:111538827-111538827 4:110617671-110617671

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

73
# Symbol AA change Variation ID SNP ID
1 PITX2 p.Arg130Trp VAR_003762 rs121909248
2 PITX2 p.Arg115His VAR_003765 rs104893861

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
13.18 PIGW PIGV PIGT PIGO PIGN PIGM
2
Show member pathways
11.55 PIGW PIGV PIGT PIGO PIGN PIGM
3 10.92 PITX2 FOXC1
4
Show member pathways
10.89 PIGY PIGW PIGV PIGT PIGO PIGN

GO Terms for Anterior Segment Dysgenesis 4

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10 PIGY PIGW PIGV PIGT PIGO PIGN
2 endoplasmic reticulum GO:0005783 9.61 PIGY PIGV PIGT PIGO PIGN PIGG
3 endoplasmic reticulum membrane GO:0005789 9.36 PIGY PIGW PIGV PIGT PIGO PIGN
4 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex GO:0000506 9.16 PIGY PIGA

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

# Name GO ID Score Top Affiliating Genes
1 preassembly of GPI anchor in ER membrane GO:0016254 9.5 PIGY PIGW PIGV PIGN PIGM PIGG
2 GPI anchor biosynthetic process GO:0006506 9.36 PIGY PIGW PIGV PIGT PIGO PIGN
3 GPI anchor metabolic process GO:0006505 9.16 PIGW PGAP3

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.7 PIGW PIGV PIGO PIGN PIGM PIGG
2 transferase activity, transferring glycosyl groups GO:0016757 9.43 PIGV PIGM PIGA
3 phosphatidylinositol N-acetylglucosaminyltransferase activity GO:0017176 8.96 PIGY PIGA
4 mannose-ethanolamine phosphotransferase activity GO:0051377 8.8 PIGO PIGN PIGG

Sources for Anterior Segment Dysgenesis 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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