ASGD1
MCID: ANT077
MIFTS: 43

Anterior Segment Dysgenesis 1 (ASGD1)

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

Aliases & Classifications for Anterior Segment Dysgenesis 1

MalaCards integrated aliases for Anterior Segment Dysgenesis 1:

Name: Anterior Segment Dysgenesis 1 58 76
Anterior Segment Mesenchymal Dysgenesis 58 12 76 30 13 56 6 15 74
Anterior Segment Dysgenesis 1, Multiple Subtypes 58 6
Anterior Segment Ocular Dysgenesis 58 76
Asgd1 58 76
Asmd 58 76
Asod 58 76
Familial Ocular Anterior Segment Mesenchymal Dysgenesis 76
Anterior Segment Mesenchymal Dysgenesis; Asmd 58
Dysgenesis, Mesenchymal, Anterior Segment 41
Anterior Segment Ocular Dysgenesis; Asod 58
Axenfeld-Rieger Syndrome, Type 3 74
Irido-Corneal Dysgenesis 74

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
anterior segment dysgenesis 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060605
OMIM 58 107250
MeSH 45 D005124
ICD10 34 Q13.8

Summaries for Anterior Segment Dysgenesis 1

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). 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 axenfeld-rieger syndrome, type 3 and anterior segment dysgenesis. 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 posterior polar cataract and ocular anterior segment dysgenesis

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Anterior segment mesenchymal dysgenesis, or simply anterior segment dysgenesis (ASD), is a failure of... more...

Related Diseases for Anterior Segment Dysgenesis 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 axenfeld-rieger syndrome, type 3 32.9 PAX6 PITX2
2 anterior segment dysgenesis 31.2 FOXE3 MAF PAX6 PITX2 PITX3
3 anterior segment dysgenesis 2 30.3 FOXE3 PITX3
4 cataract 28.9 CRYGS FOXE3 MAF PAX6 PITX3
5 anterior segment dysgenesis 4 11.1
6 anterior segment dysgenesis 7 11.1
7 anterior segment dysgenesis 3 11.1
8 anterior segment dysgenesis 5 11.1
9 anterior segment dysgenesis 6 11.1
10 anterior segment dysgenesis 8 11.1
11 acid sphingomyelinase deficiency 10.4
12 keloids 10.2
13 cataract 11, multiple types 10.1
14 cataract 16, multiple types 10.1 CRYGS PITX3
15 melnick-needles syndrome 10.0
16 chromosome 16p13.3 deletion syndrome, proximal 10.0
17 bowenoid papulosis 10.0
18 axenfeld-rieger syndrome 9.9 PAX6 PITX2
19 congenital aphakia 9.9 FOXE3 PAX6
20 intestinal atresia 9.8 PAX6 PITX2
21 iris disease 9.7 PAX6 PITX2
22 hereditary wilms' tumor 9.7 CDKN1C PAX6
23 axenfeld-rieger syndrome, type 1 9.7 PAX6 PITX2 PITX3
24 juvenile glaucoma 9.7 PAX6 PITX2
25 aniridia 1 9.6 FOXE3 PAX6 PITX2
26 glaucoma 3, primary congenital, a 9.6 CRYGS PAX6 PITX2
27 coloboma of macula 9.6 FOXE3 PAX6
28 lens disease 9.5 CRYGS FOXE3 PAX6 PITX3
29 peters-plus syndrome 9.5 FOXE3 PAX6 PITX2 PITX3

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

Human phenotypes related to Anterior Segment Dysgenesis 1:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 posterior polar cataract 33 very rare (1%) HP:0001115
2 ocular anterior segment dysgenesis 33 very rare (1%) HP:0007700
3 opacification of the corneal stroma 33 HP:0007759
4 microcornea 33 HP:0000482
5 peters anomaly 33 HP:0000659
6 ocular hypertension 33 HP:0007906

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Anterior Segment Dysgenesis 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.46 CDKN1B MAF PAX6 PITX2
2 pigmentation MP:0001186 9.26 CDKN1B PAX6 PITX2 PITX3
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 30 PITX3

Anatomical Context for Anterior Segment Dysgenesis 1

MalaCards organs/tissues related to Anterior Segment Dysgenesis 1:

42
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
Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4). ( 15286169 )
2004
4
Bilateral congenital corneal keloids and anterior segment mesenchymal dysgenesis in a case of Rubinstein-Taybi syndrome. ( 11805525 )
2002
5
Autosomal dominant cataracts and Peters anomaly in a large Australian family. ( 10361984 )
1999
6
A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. ( 9620774 )
1998
7
Anterior segment mesenchymal dysgenesis associated with partial duplication of the short arm of chromosome 2. ( 2013025 )
1991
8
Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations. ( 6801987 )
1982
9
Anterior segment mesenchymal dysgenesis: probable linkage to the MNS blood group on chromosome 4. ( 6978612 )
1982

Variations for Anterior Segment Dysgenesis 1

ClinVar genetic disease variations for Anterior Segment Dysgenesis 1:

6 (show all 45)
# Gene Variation Type Significance SNP ID Assembly Location
1 PITX2 NM_153427.2(PITX2): c.480A> T (p.Ser160=) single nucleotide variant Conflicting interpretations of pathogenicity rs141176394 GRCh37 Chromosome 4, 111539617: 111539617
2 PITX2 NM_153427.2(PITX2): c.480A> T (p.Ser160=) single nucleotide variant Conflicting interpretations of pathogenicity rs141176394 GRCh38 Chromosome 4, 110618461: 110618461
3 PITX2 NM_153427.2(PITX2): c.65A> C (p.Gln22Pro) single nucleotide variant Likely benign rs201628949 GRCh37 Chromosome 4, 111542507: 111542507
4 PITX2 NM_153427.2(PITX2): c.65A> C (p.Gln22Pro) single nucleotide variant Likely benign rs201628949 GRCh38 Chromosome 4, 110621351: 110621351
5 PITX2 NM_153427.2(PITX2): c.703C> T (p.Leu235=) single nucleotide variant Likely benign rs139401187 GRCh37 Chromosome 4, 111539394: 111539394
6 PITX2 NM_153427.2(PITX2): c.703C> T (p.Leu235=) single nucleotide variant Likely benign rs139401187 GRCh38 Chromosome 4, 110618238: 110618238
7 PITX2 NM_153427.2(PITX2): c.*119T> A single nucleotide variant Uncertain significance rs765040142 GRCh37 Chromosome 4, 111539162: 111539162
8 PITX2 NM_153427.2(PITX2): c.*119T> A single nucleotide variant Uncertain significance rs765040142 GRCh38 Chromosome 4, 110618006: 110618006
9 PITX2 NM_153427.2(PITX2): c.*176A> T single nucleotide variant Likely benign rs567517676 GRCh37 Chromosome 4, 111539105: 111539105
10 PITX2 NM_153427.2(PITX2): c.*176A> T single nucleotide variant Likely benign rs567517676 GRCh38 Chromosome 4, 110617949: 110617949
11 PITX2 NM_153427.2(PITX2): c.*471G> A single nucleotide variant Likely benign rs75911264 GRCh37 Chromosome 4, 111538810: 111538810
12 PITX2 NM_153427.2(PITX2): c.*471G> A single nucleotide variant Likely benign rs75911264 GRCh38 Chromosome 4, 110617654: 110617654
13 PITX2 NM_153427.2(PITX2): c.*522T> C single nucleotide variant Uncertain significance rs188349821 GRCh37 Chromosome 4, 111538759: 111538759
14 PITX2 NM_153427.2(PITX2): c.*522T> C single nucleotide variant Uncertain significance rs188349821 GRCh38 Chromosome 4, 110617603: 110617603
15 PITX2 NM_153427.2(PITX2): c.*611A> G single nucleotide variant Uncertain significance rs886059002 GRCh37 Chromosome 4, 111538670: 111538670
16 PITX2 NM_153427.2(PITX2): c.*611A> G single nucleotide variant Uncertain significance rs886059002 GRCh38 Chromosome 4, 110617514: 110617514
17 PITX2 NM_153427.2(PITX2): c.253-11delA deletion Uncertain significance rs886059007 GRCh37 Chromosome 4, 111539855: 111539855
18 PITX2 NM_153427.2(PITX2): c.253-11delA deletion Uncertain significance rs886059007 GRCh38 Chromosome 4, 110618699: 110618699
19 PITX2 NM_153427.2(PITX2): c.*264A> C single nucleotide variant Uncertain significance rs886059006 GRCh37 Chromosome 4, 111539017: 111539017
20 PITX2 NM_153427.2(PITX2): c.*264A> C single nucleotide variant Uncertain significance rs886059006 GRCh38 Chromosome 4, 110617861: 110617861
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.*340A> G single nucleotide variant Likely benign rs551209662 GRCh37 Chromosome 4, 111538941: 111538941
24 PITX2 NM_153427.2(PITX2): c.*340A> G single nucleotide variant Likely benign rs551209662 GRCh38 Chromosome 4, 110617785: 110617785
25 PITX2 NM_153427.2(PITX2): c.*376_*378delGTT deletion Uncertain significance rs886059004 GRCh37 Chromosome 4, 111538903: 111538905
26 PITX2 NM_153427.2(PITX2): c.*376_*378delGTT deletion Uncertain significance rs886059004 GRCh38 Chromosome 4, 110617747: 110617749
27 PITX2 NM_153427.2(PITX2): c.*572T> C single nucleotide variant Uncertain significance rs886059003 GRCh37 Chromosome 4, 111538709: 111538709
28 PITX2 NM_153427.2(PITX2): c.*572T> C single nucleotide variant Uncertain significance rs886059003 GRCh38 Chromosome 4, 110617553: 110617553
29 PITX2 NM_153427.2(PITX2): c.459T> G (p.Ser153=) single nucleotide variant Benign/Likely benign rs35946364 GRCh38 Chromosome 4, 110618482: 110618482
30 PITX2 NM_153427.2(PITX2): c.459T> G (p.Ser153=) single nucleotide variant Benign/Likely benign rs35946364 GRCh37 Chromosome 4, 111539638: 111539638
31 PITX2 NM_153427.2(PITX2): c.403G> A (p.Ala135Thr) single nucleotide variant Benign/Likely benign rs77144743 GRCh38 Chromosome 4, 110618538: 110618538
32 PITX2 NM_153427.2(PITX2): c.403G> A (p.Ala135Thr) single nucleotide variant Benign/Likely benign rs77144743 GRCh37 Chromosome 4, 111539694: 111539694
33 PITX2 NM_153427.2(PITX2): c.*454C> T single nucleotide variant Benign rs6533526 GRCh37 Chromosome 4, 111538827: 111538827
34 PITX2 NM_153427.2(PITX2): c.*454C> T single nucleotide variant Benign rs6533526 GRCh38 Chromosome 4, 110617671: 110617671
35 PITX2 NM_153427.2(PITX2): c.660G> A (p.Pro220=) single nucleotide variant Benign/Likely benign rs148191851 GRCh38 Chromosome 4, 110618281: 110618281
36 PITX2 NM_153427.2(PITX2): c.660G> A (p.Pro220=) single nucleotide variant Benign/Likely benign rs148191851 GRCh37 Chromosome 4, 111539437: 111539437
37 PITX3 PITX3, 17-BP DUP, NT657 duplication Pathogenic
38 PITX3 NM_005029.3(PITX3): c.388A> T (p.Lys130Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 103990792: 103990792
39 PITX3 NM_005029.3(PITX3): c.388A> T (p.Lys130Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 102231035: 102231035
40 PITX3 NM_005029.3(PITX3): c.640_656delGCCCTGCAGGGCCTGGG (p.Ala214Argfs) deletion Uncertain significance rs1411557416 GRCh38 Chromosome 10, 102230767: 102230783
41 PITX3 NM_005029.3(PITX3): c.640_656delGCCCTGCAGGGCCTGGG (p.Ala214Argfs) deletion Uncertain significance rs1411557416 GRCh37 Chromosome 10, 103990524: 103990540
42 PITX3 NM_005029.3(PITX3): c.414G> T (p.Gly138=) single nucleotide variant Uncertain significance rs1554934124 GRCh37 Chromosome 10, 103990766: 103990766
43 PITX3 NM_005029.3(PITX3): c.414G> T (p.Gly138=) single nucleotide variant Uncertain significance rs1554934124 GRCh38 Chromosome 10, 102231009: 102231009
44 FOXE3 NM_012186.2(FOXE3): c.587G> C (p.Gly196Ala) single nucleotide variant Benign/Likely benign rs281865461 GRCh38 Chromosome 1, 47416902: 47416902
45 FOXE3 NM_012186.2(FOXE3): c.587G> C (p.Gly196Ala) single nucleotide variant Benign/Likely benign rs281865461 GRCh37 Chromosome 1, 47882574: 47882574

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 21)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.96 FOXE3 MAF PAX6 PITX2 PITX3
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.9 MAF PAX6 PITX2 PITX3
3 anatomical structure morphogenesis GO:0009653 9.63 FOXE3 PITX2 PITX3
4 cell development GO:0048468 9.59 FOXE3 MAF
5 inner ear development GO:0048839 9.58 CDKN1B MAF
6 placenta development GO:0001890 9.58 CDKN1B CDKN1C
7 negative regulation of epithelial cell proliferation GO:0050680 9.58 CDKN1B CDKN1C PAX6
8 eye development GO:0001654 9.57 FOXE3 PAX6
9 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.55 CDKN1B CDKN1C
10 negative regulation of neurogenesis GO:0050768 9.54 PAX6 PITX3
11 negative regulation of phosphorylation GO:0042326 9.52 CDKN1B CDKN1C
12 negative regulation of kinase activity GO:0033673 9.51 CDKN1B CDKN1C
13 transcription by RNA polymerase II GO:0006366 9.5 FOXE3 MAF PAX6
14 lens fiber cell differentiation GO:0070306 9.49 MAF PITX3
15 regulation of exit from mitosis GO:0007096 9.48 CDKN1B CDKN1C
16 camera-type eye development GO:0043010 9.46 CDKN1C FOXE3 PAX6 PITX2
17 cornea development in camera-type eye GO:0061303 9.43 FOXE3 PAX6
18 negative regulation of cyclin-dependent protein kinase activity GO:1904030 9.37 CDKN1B CDKN1C
19 regulation of lens fiber cell differentiation GO:1902746 9.26 CDKN1B CDKN1C
20 iris morphogenesis GO:0061072 9.13 FOXE3 PAX6 PITX2
21 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 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.77 FOXE3 MAF PAX6 PITX2 PITX3
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.56 MAF PAX6 PITX2 PITX3
4 RNA polymerase II transcription factor binding GO:0001085 9.4 PITX2 PITX3
5 DNA-binding transcription factor activity GO:0003700 9.35 FOXE3 MAF PAX6 PITX2 PITX3
6 protein kinase inhibitor activity GO:0004860 9.32 CDKN1B CDKN1C
7 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 9.16 CDKN1B CDKN1C
8 sequence-specific DNA binding GO:0043565 9.02 FOXE3 MAF PAX6 PITX2 PITX3

Sources for Anterior Segment Dysgenesis 1

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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