ASGD1
MCID: ANT077
MIFTS: 42

Anterior Segment Dysgenesis 1 (ASGD1)

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

Aliases & Classifications for Anterior Segment Dysgenesis 1

MalaCards integrated aliases for Anterior Segment Dysgenesis 1:

Name: Anterior Segment Dysgenesis 1 57 75
Anterior Segment Mesenchymal Dysgenesis 57 12 75 29 13 55 6 15 73
Anterior Segment Dysgenesis 1, Multiple Subtypes 57 6
Anterior Segment Ocular Dysgenesis 57 75
Asgd1 57 75
Asmd 57 75
Asod 57 75
Familial Ocular Anterior Segment Mesenchymal Dysgenesis 75
Anterior Segment Mesenchymal Dysgenesis; Asmd 57
Dysgenesis, Mesenchymal, Anterior Segment 40
Anterior Segment Ocular Dysgenesis; Asod 57
Axenfeld-Rieger Syndrome, Type 3 73
Irido-Corneal Dysgenesis 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable features present
markedly variable expressivity within families
histopathology findings from report of 1 patient


HPO:

32
anterior segment dysgenesis 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 107250
Disease Ontology 12 DOID:0060605
ICD10 33 Q13.8
MedGen 42 C1862839
MeSH 44 D005124

Summaries for Anterior Segment Dysgenesis 1

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). Some patients with ASGD1 have been reported with the Peters anomaly subtype. In its simplist form, Peters anomaly involves a central corneal opacity, but it may also involve adherent iris strands. Some patients have keratolenticular content or cataract. The underlying defects in this form of congenital corneal opacity reside in the posterior stroma, Descemet membrane, and corneal endothelium. The disorder results from abnormal migration or function of neural crest cells and may include abnormalities of other anterior segment structures, such as the lens and iris (summary by Withers et al., 1999). (107250)

MalaCards based summary : Anterior Segment Dysgenesis 1, also known as anterior segment mesenchymal dysgenesis, is related to anterior segment dysgenesis and axenfeld-rieger syndrome, type 3. An important gene associated with Anterior Segment Dysgenesis 1 is PITX3 (Paired Like Homeodomain 3), and among its related pathways/superpathways are C-MYB transcription factor network and Primary Focal Segmental Glomerulosclerosis FSGS. Affiliated tissues include eye and endothelial, and related phenotypes are opacification of the corneal stroma and microcornea

UniProtKB/Swiss-Prot : 75 Anterior segment dysgenesis 1: 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.

Related Diseases for Anterior Segment Dysgenesis 1

Graphical network of the top 20 diseases related to Anterior Segment Dysgenesis 1:



Diseases related to Anterior Segment Dysgenesis 1

Symptoms & Phenotypes for Anterior Segment Dysgenesis 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
microcornea
peters anomaly
cataracts, multiple types
corneal opacities of variable size and density
iris adhesions (synechiae)
more

Clinical features from OMIM:

107250

Human phenotypes related to Anterior Segment Dysgenesis 1:

32
# Description HPO Frequency HPO Source Accession
1 opacification of the corneal stroma 32 HP:0007759
2 microcornea 32 HP:0000482
3 peters anomaly 32 HP:0000659
4 anterior segment dysgenesis 32 very rare (1%) HP:0007700
5 posterior polar cataract 32 very rare (1%) HP:0001115

MGI Mouse Phenotypes related to Anterior Segment Dysgenesis 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.46 CDKN1B MAF PAX6 PITX2
2 pigmentation MP:0001186 9.26 PITX3 CDKN1B PAX6 PITX2
3 vision/eye MP:0005391 9.1 CDKN1B CRYGS MAF PAX6 PITX2 PITX3

Drugs & Therapeutics for Anterior Segment Dysgenesis 1

Search Clinical Trials , NIH Clinical Center for Anterior Segment Dysgenesis 1

Genetic Tests for Anterior Segment Dysgenesis 1

Genetic tests related to Anterior Segment Dysgenesis 1:

# Genetic test Affiliating Genes
1 Anterior Segment Mesenchymal Dysgenesis 29 FOXE3 PITX3

Anatomical Context for Anterior Segment Dysgenesis 1

MalaCards organs/tissues related to Anterior Segment Dysgenesis 1:

41
Eye, Endothelial

Publications for Anterior Segment Dysgenesis 1

Articles related to Anterior Segment Dysgenesis 1:

# Title Authors Year
1
Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3. ( 18989383 )
2008
2
Unilateral congenital corneal keloid with anterior segment mesenchymal dysgenesis and subluxated lens: case report and review of literature. ( 17198027 )
2007
3
Bilateral congenital corneal keloids and anterior segment mesenchymal dysgenesis in a case of Rubinstein-Taybi syndrome. ( 11805525 )
2002
4
Anterior segment mesenchymal dysgenesis associated with partial duplication of the short arm of chromosome 2. ( 2013025 )
1991
5
Anterior segment mesenchymal dysgenesis: probable linkage to the MNS blood group on chromosome 4. ( 6978612 )
1982
6
Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations. ( 6801987 )
1982

Variations for Anterior Segment Dysgenesis 1

ClinVar genetic disease variations for Anterior Segment Dysgenesis 1:

6
(show all 43)
# Gene Variation Type Significance SNP ID Assembly Location
1 PITX3 PITX3, 17-BP DUP, NT657 duplication Pathogenic
2 PITX2 NM_153427.2(PITX2): c.660G> A (p.Pro220=) single nucleotide variant Benign/Likely benign rs148191851 GRCh37 Chromosome 4, 111539437: 111539437
3 PITX2 NM_153427.2(PITX2): c.660G> A (p.Pro220=) single nucleotide variant Benign/Likely benign rs148191851 GRCh38 Chromosome 4, 110618281: 110618281
4 PITX2 NM_153427.2(PITX2): c.*454C> T single nucleotide variant Benign rs6533526 GRCh38 Chromosome 4, 110617671: 110617671
5 PITX2 NM_153427.2(PITX2): c.*454C> T single nucleotide variant Benign rs6533526 GRCh37 Chromosome 4, 111538827: 111538827
6 PITX2 NM_153427.2(PITX2): c.403G> A (p.Ala135Thr) single nucleotide variant Benign/Likely benign rs77144743 GRCh37 Chromosome 4, 111539694: 111539694
7 PITX2 NM_153427.2(PITX2): c.403G> A (p.Ala135Thr) single nucleotide variant Benign/Likely benign rs77144743 GRCh38 Chromosome 4, 110618538: 110618538
8 PITX2 NM_153427.2(PITX2): c.459T> G (p.Ser153=) single nucleotide variant Benign/Likely benign rs35946364 GRCh37 Chromosome 4, 111539638: 111539638
9 PITX2 NM_153427.2(PITX2): c.459T> G (p.Ser153=) single nucleotide variant Benign/Likely benign rs35946364 GRCh38 Chromosome 4, 110618482: 110618482
10 PITX2 NM_153427.2(PITX2): c.480A> T (p.Ser160=) single nucleotide variant Conflicting interpretations of pathogenicity rs141176394 GRCh37 Chromosome 4, 111539617: 111539617
11 PITX2 NM_153427.2(PITX2): c.480A> T (p.Ser160=) single nucleotide variant Conflicting interpretations of pathogenicity rs141176394 GRCh38 Chromosome 4, 110618461: 110618461
12 PITX2 NM_153427.2(PITX2): c.*572T> C single nucleotide variant Uncertain significance rs886059003 GRCh37 Chromosome 4, 111538709: 111538709
13 PITX2 NM_153427.2(PITX2): c.*572T> C single nucleotide variant Uncertain significance rs886059003 GRCh38 Chromosome 4, 110617553: 110617553
14 PITX2 NM_153427.2(PITX2): c.*376_*378delGTT deletion Uncertain significance rs886059004 GRCh37 Chromosome 4, 111538903: 111538905
15 PITX2 NM_153427.2(PITX2): c.*376_*378delGTT deletion Uncertain significance rs886059004 GRCh38 Chromosome 4, 110617747: 110617749
16 PITX2 NM_153427.2(PITX2): c.*340A> G single nucleotide variant Likely benign rs551209662 GRCh37 Chromosome 4, 111538941: 111538941
17 PITX2 NM_153427.2(PITX2): c.*340A> G single nucleotide variant Likely benign rs551209662 GRCh38 Chromosome 4, 110617785: 110617785
18 PITX2 NM_153427.2(PITX2): c.*370G> C single nucleotide variant Uncertain significance rs886059005 GRCh37 Chromosome 4, 111538911: 111538911
19 PITX2 NM_153427.2(PITX2): c.*370G> C single nucleotide variant Uncertain significance rs886059005 GRCh38 Chromosome 4, 110617755: 110617755
20 PITX2 NM_153427.2(PITX2): c.*264A> C single nucleotide variant Uncertain significance rs886059006 GRCh37 Chromosome 4, 111539017: 111539017
21 PITX2 NM_153427.2(PITX2): c.*264A> C single nucleotide variant Uncertain significance rs886059006 GRCh38 Chromosome 4, 110617861: 110617861
22 PITX2 NM_153427.2(PITX2): c.253-11delA deletion Uncertain significance rs886059007 GRCh37 Chromosome 4, 111539855: 111539855
23 PITX2 NM_153427.2(PITX2): c.253-11delA deletion Uncertain significance rs886059007 GRCh38 Chromosome 4, 110618699: 110618699
24 PITX2 NM_153427.2(PITX2): c.*611A> G single nucleotide variant Uncertain significance rs886059002 GRCh38 Chromosome 4, 110617514: 110617514
25 PITX2 NM_153427.2(PITX2): c.*611A> G single nucleotide variant Uncertain significance rs886059002 GRCh37 Chromosome 4, 111538670: 111538670
26 PITX2 NM_153427.2(PITX2): c.*522T> C single nucleotide variant Uncertain significance rs188349821 GRCh37 Chromosome 4, 111538759: 111538759
27 PITX2 NM_153427.2(PITX2): c.*522T> C single nucleotide variant Uncertain significance rs188349821 GRCh38 Chromosome 4, 110617603: 110617603
28 PITX2 NM_153427.2(PITX2): c.*471G> A single nucleotide variant Likely benign rs75911264 GRCh37 Chromosome 4, 111538810: 111538810
29 PITX2 NM_153427.2(PITX2): c.*471G> A single nucleotide variant Likely benign rs75911264 GRCh38 Chromosome 4, 110617654: 110617654
30 PITX2 NM_153427.2(PITX2): c.*176A> T single nucleotide variant Likely benign rs567517676 GRCh37 Chromosome 4, 111539105: 111539105
31 PITX2 NM_153427.2(PITX2): c.*176A> T single nucleotide variant Likely benign rs567517676 GRCh38 Chromosome 4, 110617949: 110617949
32 PITX2 NM_153427.2(PITX2): c.*119T> A single nucleotide variant Uncertain significance rs765040142 GRCh37 Chromosome 4, 111539162: 111539162
33 PITX2 NM_153427.2(PITX2): c.*119T> A single nucleotide variant Uncertain significance rs765040142 GRCh38 Chromosome 4, 110618006: 110618006
34 PITX2 NM_153427.2(PITX2): c.703C> T (p.Leu235=) single nucleotide variant Likely benign rs139401187 GRCh37 Chromosome 4, 111539394: 111539394
35 PITX2 NM_153427.2(PITX2): c.703C> T (p.Leu235=) single nucleotide variant Likely benign rs139401187 GRCh38 Chromosome 4, 110618238: 110618238
36 PITX2 NM_153427.2(PITX2): c.65A> C (p.Gln22Pro) single nucleotide variant Likely benign rs201628949 GRCh37 Chromosome 4, 111542507: 111542507
37 PITX2 NM_153427.2(PITX2): c.65A> C (p.Gln22Pro) single nucleotide variant Likely benign rs201628949 GRCh38 Chromosome 4, 110621351: 110621351
38 FOXE3 NM_012186.2(FOXE3): c.587G> C (p.Gly196Ala) single nucleotide variant Benign/Likely benign rs281865461 GRCh37 Chromosome 1, 47882574: 47882574
39 FOXE3 NM_012186.2(FOXE3): c.587G> C (p.Gly196Ala) single nucleotide variant Benign/Likely benign rs281865461 GRCh38 Chromosome 1, 47416902: 47416902
40 PITX3 NM_005029.3(PITX3): c.414G> T (p.Gly138=) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 102231009: 102231009
41 PITX3 NM_005029.3(PITX3): c.414G> T (p.Gly138=) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 103990766: 103990766
42 PITX3 NM_005029.3(PITX3): c.640_656del17 (p.Ala214Argfs) deletion Uncertain significance GRCh37 Chromosome 10, 103990524: 103990540
43 PITX3 NM_005029.3(PITX3): c.640_656del17 (p.Ala214Argfs) deletion Uncertain significance GRCh38 Chromosome 10, 102230767: 102230783

Expression for Anterior Segment Dysgenesis 1

Search GEO for disease gene expression data for Anterior Segment Dysgenesis 1.

Pathways for Anterior Segment Dysgenesis 1

Pathways related to Anterior Segment Dysgenesis 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.05 CDKN1B MAF
2 10.82 CDKN1B CDKN1C
3 10.1 CDKN1C PITX3

GO Terms for Anterior Segment Dysgenesis 1

Biological processes related to Anterior Segment Dysgenesis 1 according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.88 MAF PAX6 PITX2 PITX3
2 positive regulation of transcription, DNA-templated GO:0045893 9.83 CDKN1C PAX6 PITX2 PITX3
3 animal organ morphogenesis GO:0009887 9.63 PAX6 PITX2 PITX3
4 regulation of cell migration GO:0030334 9.59 PAX6 PITX2
5 cell development GO:0048468 9.58 FOXE3 MAF
6 inner ear development GO:0048839 9.57 CDKN1B MAF
7 eye development GO:0001654 9.56 FOXE3 PAX6
8 pituitary gland development GO:0021983 9.55 PAX6 PITX2
9 transcription by RNA polymerase II GO:0006366 9.55 FOXE3 MAF PAX6 PITX2 PITX3
10 negative regulation of protein serine/threonine kinase activity GO:0071901 9.54 CDKN1B CDKN1C
11 camera-type eye development GO:0043010 9.54 FOXE3 PAX6 PITX2
12 negative regulation of neurogenesis GO:0050768 9.51 PAX6 PITX3
13 negative regulation of epithelial cell proliferation GO:0050680 9.5 CDKN1B CDKN1C PAX6
14 negative regulation of phosphorylation GO:0042326 9.49 CDKN1B CDKN1C
15 lens fiber cell differentiation GO:0070306 9.48 MAF PITX3
16 negative regulation of kinase activity GO:0033673 9.43 CDKN1B CDKN1C
17 cornea development in camera-type eye GO:0061303 9.4 FOXE3 PAX6
18 negative regulation of cyclin-dependent protein kinase activity GO:1904030 9.26 CDKN1B CDKN1C
19 iris morphogenesis GO:0061072 9.13 FOXE3 PAX6 PITX2
20 lens development in camera-type eye GO:0002088 9.02 CRYGS FOXE3 MAF PAX6 PITX3

Molecular functions related to Anterior Segment Dysgenesis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.83 FOXE3 MAF PAX6 PITX2 PITX3
2 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.65 FOXE3 MAF PAX6 PITX2 PITX3
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.58 PAX6 PITX2 PITX3
4 DNA binding transcription factor activity GO:0003700 9.55 FOXE3 MAF PAX6 PITX2 PITX3
5 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.5 PAX6 PITX2 PITX3
6 protein kinase inhibitor activity GO:0004860 9.37 CDKN1B CDKN1C
7 sequence-specific DNA binding GO:0043565 9.02 FOXE3 MAF PAX6 PITX2 PITX3
8 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 8.96 CDKN1B CDKN1C

Sources for Anterior Segment Dysgenesis 1

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
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