MCID: ANT073
MIFTS: 40

Anterior Segment Dysgenesis 1, Multiple Subtypes

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

Aliases & Classifications for Anterior Segment Dysgenesis 1, Multiple Subtypes

MalaCards integrated aliases for Anterior Segment Dysgenesis 1, Multiple Subtypes:

Name: Anterior Segment Dysgenesis 1, Multiple Subtypes 54
Anterior Segment Mesenchymal Dysgenesis 12 50 24 71 29 13 52 14 69
Anterior Segment Ocular Dysgenesis 50 24 71
Asmd 50 24 71
Asod 50 24 71
Familial Ocular Anterior Segment Mesenchymal Dysgenesis 50 71
Anterior Segment Dysgenesis 50 29
Axenfeld-Rieger Syndrome, Type 3 69
Foxe3-Related Ocular Disorder 50
Anterior Segment Dysgenesis 1 71
Irido-Corneal Dysgenesis 69
Asgd1 71

Characteristics:

OMIM:

54
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, multiple subtypes:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 107250
Disease Ontology 12 DOID:0060605
ICD10 33 Q13.8
MedGen 40 C1862839
MeSH 42 D005124

Summaries for Anterior Segment Dysgenesis 1, Multiple Subtypes

OMIM : 54
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, Multiple Subtypes, also known as anterior segment mesenchymal dysgenesis, is related to anterior segment dysgenesis 2, multiple subtypes and anterior segment dysgenesis 5, multiple subtypes, and has symptoms including anterior segment dysgenesis, posterior polar cataract and opacification of the corneal stroma. An important gene associated with Anterior Segment Dysgenesis 1, Multiple Subtypes is PITX3 (Paired Like Homeodomain 3), and among its related pathways/superpathways are Primary Focal Segmental Glomerulosclerosis FSGS and Dopaminergic Neurogenesis. Affiliated tissues include eye and endothelial, and related phenotypes are pigmentation and respiratory system

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on microphthalmia.

UniProtKB/Swiss-Prot : 71 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, Multiple Subtypes

Diseases in the Anterior Segment Dysgenesis 1, Multiple Subtypes family:

Anterior Segment Dysgenesis 2, Multiple Subtypes Anterior Segment Dysgenesis 6, Multiple Subtypes
Anterior Segment Dysgenesis 3, Multiple Subtypes Anterior Segment Dysgenesis 5, Multiple Subtypes

Diseases related to Anterior Segment Dysgenesis 1, Multiple Subtypes via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
id Related Disease Score Top Affiliating Genes
1 anterior segment dysgenesis 2, multiple subtypes 34.0 FOXE3 PITX3
2 anterior segment dysgenesis 5, multiple subtypes 32.0 FOXE3 PAX6 PITX2 PITX3
3 foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis 12.4
4 anterior segment dysgenesis 7, with sclerocornea 12.4
5 anterior segment dysgenesis 6, multiple subtypes 12.4
6 anterior segment dysgenesis 4 12.4
7 anterior segment dysgenesis 3, multiple subtypes 12.4
8 craniofacial anomalies and anterior segment dysgenesis syndrome 12.4
9 anterior segment dysgenesis 8 12.4
10 foxe3-related anterior segment mesenchymal dysgenesis 12.2
11 pitx3-related anterior segment mesenchymal dysgenesis 12.2
12 oculoauricular syndrome 11.9
13 axenfeld-rieger syndrome, type 3 11.4
14 edict syndrome 11.0
15 myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related 10.2 CRYGS PITX3
16 keloids 10.0
17 cataract 10.0
18 coloboma 10.0
19 aniridia 9.9
20 retinitis 9.9
21 early-onset glaucoma 9.9
22 microphthalmia 9.9
23 anal spasm 9.8 FOXE3 PAX6
24 ectropion 9.7
25 cerebritis 9.7
26 factor vii deficiency 9.7
27 alveolar capillary dysplasia 9.7
28 alveolar capillary dysplasia with misalignment of pulmonary veins 9.7
29 brachydactyly 9.7
30 sclerocornea 9.7
31 persistent hyperplastic primary vitreous 9.7
32 williams-beuren syndrome 9.7
33 axenfeld-rieger syndrome 9.7
34 adrenal cortical hypofunction 9.6 PAX6 PITX2
35 skin granular cell tumor 9.5 PAX6 PITX2
36 type i ehlers-danlos syndrome 9.5 PAX6 PITX2
37 cervical wilms' tumor 9.5 CDKN1C PAX6
38 down syndrome 9.4 CRYGS PAX6 PITX3
39 parietal foramina 9.4 PAX6 PITX2
40 ring dermoid of cornea 9.4 PAX6 PITX2 PITX3
41 glaucoma 3a, primary open angle, congenital, juvenile, or adult onset 9.3 CRYGS PAX6 PITX2
42 lactocele 9.2 PAX6 PITX2
43 anorectal stricture 9.1 CRYGS FOXE3 PAX6 PITX3
44 isolated microphthalmia 9.0 FOXE3 PAX6 PITX2 PITX3
45 breast-ovarian cancer, familial, 2 9.0 FOXE3 PAX6 PITX2 PITX3
46 cataract 11, multiple types 7.4 CDKN1B CDKN1C CRYGS FOXE3 PAX6 PITX2

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



Diseases related to Anterior Segment Dysgenesis 1, Multiple Subtypes

Symptoms & Phenotypes for Anterior Segment Dysgenesis 1, Multiple Subtypes

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
elevated intraocular pressure
peters anomaly
microcornea
corneal opacities of variable size and density
cataracts, multiple types
more

Clinical features from OMIM:

107250

Human phenotypes related to Anterior Segment Dysgenesis 1, Multiple Subtypes:

32
id Description HPO Frequency HPO Source Accession
1 anterior segment dysgenesis 32 very rare (1%) HP:0007700
2 posterior polar cataract 32 very rare (1%) HP:0001115
3 opacification of the corneal stroma 32 HP:0007759

MGI Mouse Phenotypes related to Anterior Segment Dysgenesis 1, Multiple Subtypes:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.46 CDKN1B PAX6 PITX2 PITX3
2 respiratory system MP:0005388 9.26 CDKN1B PAX6 PITX2 PITX3
3 vision/eye MP:0005391 9.02 CDKN1B CRYGS PAX6 PITX2 PITX3

Drugs & Therapeutics for Anterior Segment Dysgenesis 1, Multiple Subtypes

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

Genetic Tests for Anterior Segment Dysgenesis 1, Multiple Subtypes

Genetic tests related to Anterior Segment Dysgenesis 1, Multiple Subtypes:

id Genetic test Affiliating Genes
1 Anterior Segment Mesenchymal Dysgenesis 29 24 PITX3
2 Anterior Segment Dysgenesis 29

Anatomical Context for Anterior Segment Dysgenesis 1, Multiple Subtypes

MalaCards organs/tissues related to Anterior Segment Dysgenesis 1, Multiple Subtypes:

39
Eye, Endothelial

Publications for Anterior Segment Dysgenesis 1, Multiple Subtypes

Variations for Anterior Segment Dysgenesis 1, Multiple Subtypes

ClinVar genetic disease variations for Anterior Segment Dysgenesis 1, Multiple Subtypes:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PITX3 PITX3, 17-BP DUP, NT657 duplication Pathogenic

Expression for Anterior Segment Dysgenesis 1, Multiple Subtypes

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

Pathways for Anterior Segment Dysgenesis 1, Multiple Subtypes

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

id Super pathways Score Top Affiliating Genes
1 10.82 CDKN1B CDKN1C
2 10.1 CDKN1C PITX3

GO Terms for Anterior Segment Dysgenesis 1, Multiple Subtypes

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

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.84 CDKN1C PAX6 PITX2 PITX3
2 transcription from RNA polymerase II promoter GO:0006366 9.83 FOXE3 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 placenta development GO:0001890 9.58 CDKN1B CDKN1C
6 eye development GO:0001654 9.58 FOXE3 PAX6
7 pituitary gland development GO:0021983 9.57 PAX6 PITX2
8 negative regulation of protein serine/threonine kinase activity GO:0071901 9.56 CDKN1B CDKN1C
9 negative regulation of phosphorylation GO:0042326 9.55 CDKN1B CDKN1C
10 negative regulation of epithelial cell proliferation GO:0050680 9.54 CDKN1B CDKN1C PAX6
11 negative regulation of neurogenesis GO:0050768 9.51 PAX6 PITX3
12 regulation of exit from mitosis GO:0007096 9.49 CDKN1B CDKN1C
13 negative regulation of kinase activity GO:0033673 9.48 CDKN1B CDKN1C
14 digestive system development GO:0055123 9.43 CDKN1C PITX2
15 cornea development in camera-type eye GO:0061303 9.4 FOXE3 PAX6
16 iris morphogenesis GO:0061072 9.33 FOXE3 PAX6 PITX2
17 negative regulation of cyclin-dependent protein kinase activity GO:1904030 9.32 CDKN1B CDKN1C
18 regulation of lens fiber cell differentiation GO:1902746 9.26 CDKN1B CDKN1C
19 camera-type eye development GO:0043010 9.26 CDKN1C FOXE3 PAX6 PITX2
20 lens development in camera-type eye GO:0002088 8.92 CRYGS FOXE3 PAX6 PITX3

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.62 FOXE3 PAX6 PITX2 PITX3
2 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.54 PAX6 PITX2 PITX3
3 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.43 PAX6 PITX2 PITX3
4 protein kinase inhibitor activity GO:0004860 9.4 CDKN1B CDKN1C
5 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.33 FOXE3 PAX6 PITX2
6 sequence-specific DNA binding GO:0043565 9.26 FOXE3 PAX6 PITX2 PITX3
7 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 8.62 CDKN1B CDKN1C

Sources for Anterior Segment Dysgenesis 1, Multiple Subtypes

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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