ASGD1
MCID: ANT026
MIFTS: 42

Anterior Segment Mesenchymal Dysgenesis (ASGD1) malady

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

Aliases & Classifications for Anterior Segment Mesenchymal Dysgenesis

Aliases & Descriptions for Anterior Segment Mesenchymal Dysgenesis:

Name: Anterior Segment Mesenchymal Dysgenesis 54 12 50 24 66 29 13 52 14 69
Familial Ocular Anterior Segment Mesenchymal Dysgenesis 50 56 66
Anterior Segment Ocular Dysgenesis 50 24 66
Asmd 50 24 66
Asod 50 24 66
Axenfeld-Rieger Syndrome, Type 3 69
Foxe3-Related Ocular Disorder 50
Anterior Segment Dysgenesis 1 66
Irido-Corneal Dysgenesis 69
Asgd1 66

Characteristics:

Orphanet epidemiological data:

56

HPO:

32
anterior segment mesenchymal dysgenesis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 107250
Disease Ontology 12 DOID:0060605
ICD10 33 Q13.8
Orphanet 56 ORPHA88632
ICD10 via Orphanet 34 Q13.8
MedGen 40 C1862839
MeSH 42 D005124

Summaries for Anterior Segment Mesenchymal Dysgenesis

UniProtKB/Swiss-Prot : 66 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.

MalaCards based summary : Anterior Segment Mesenchymal Dysgenesis, also known as familial ocular anterior segment mesenchymal dysgenesis, is related to foxe3-related anterior segment mesenchymal dysgenesis and pitx3-related anterior segment mesenchymal dysgenesis, and has symptoms including opacification of the corneal stroma, anterior segment dysgenesis and posterior polar cataract. An important gene associated with Anterior Segment Mesenchymal Dysgenesis is PITX3 (Paired Like Homeodomain 3), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Primary Focal Segmental Glomerulosclerosis FSGS. Affiliated tissues include eye, and related phenotypes are endocrine/exocrine gland and pigmentation

Wikipedia : 71 Anterior segment dysgenesis (ASD) is a failure of the normal development of the tissues of the anterior... more...

Description from OMIM: 107250

Related Diseases for Anterior Segment Mesenchymal Dysgenesis

Diseases in the Anterior Segment Mesenchymal Dysgenesis family:

Foxe3-Related Anterior Segment Mesenchymal Dysgenesis Pitx3-Related Anterior Segment Mesenchymal Dysgenesis

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

(show all 25)
id Related Disease Score Top Affiliating Genes
1 foxe3-related anterior segment mesenchymal dysgenesis 12.2
2 pitx3-related anterior segment mesenchymal dysgenesis 12.2
3 axenfeld-rieger syndrome, type 3 11.4
4 scapuloperoneal syndrome, myopathic type 10.1 FOXC1 PITX2
5 conjunctival folliculosis 10.0 FOXC1 PITX2
6 cardiac arrhythmia, ankyrin-b-related 10.0 FOXC1 PITX2
7 cardiomyopathy, dilated, 1ii 10.0 CRYGS PITX3
8 keloids 10.0
9 kcnj10-related pendred syndrome 9.9 FOXC1 PAX6
10 meier-gorlin syndrome 1 9.9 FOXE3 PAX6 PITX3
11 ring dermoid of cornea 9.8 PAX6 PITX2 PITX3
12 rubinstein-taybi syndrome 9.8
13 peters anomaly 9.8 FOXC1 PAX6
14 cataract 9.8
15 orbital granuloma 9.8 FOXC1 PAX6 PITX2
16 skin granular cell tumor 9.8 FOXC1 PAX6 PITX2
17 cornea plana 9.8 FOXC1 PAX6 PITX2
18 hypertrophy of breast 9.8 FOXC1 PAX6 PITX2
19 intermixed schwannian stroma-rich ganglioneuroblastoma 9.7 CDKN1C PAX6
20 deafness, autosomal recessive 91 9.7 FOXC1 FOXE3 PAX6 PITX2
21 pseudopterygium 9.7 CRYGS FOXE3 PAX6 PITX3
22 jph2-related familial hypertrophic cardiomyopathy 9.5 FOXC1 FOXE3 PAX6 PITX2 PITX3
23 myopia 7 9.5 FOXC1 FOXE3 PAX6 PITX2 PITX3
24 muir-torre syndrome 9.5 FOXC1 FOXE3 PAX6 PITX2 PITX3
25 aphakia, congenital primary 8.9 CDKN1B CDKN1C CRYGS FOXC1 FOXE3 PAX6

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



Diseases related to Anterior Segment Mesenchymal Dysgenesis

Symptoms & Phenotypes for Anterior Segment Mesenchymal Dysgenesis

Symptoms by clinical synopsis from OMIM:

107250

Clinical features from OMIM:

107250

Human phenotypes related to Anterior Segment Mesenchymal Dysgenesis:

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

MGI Mouse Phenotypes related to Anterior Segment Mesenchymal Dysgenesis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.77 CDKN1B FOXC1 PAX6 PITX2 PITX3
2 pigmentation MP:0001186 9.72 CDKN1B FOXC1 PAX6 PITX2 PITX3
3 craniofacial MP:0005382 9.71 CDKN1B FOXC1 PAX6 PITX2
4 reproductive system MP:0005389 9.65 CDKN1B FOXC1 PAX6 PITX2 PITX3
5 respiratory system MP:0005388 9.55 CDKN1B FOXC1 PAX6 PITX2 PITX3
6 skeleton MP:0005390 9.35 CDKN1B FOXC1 PAX6 PITX2 PITX3
7 vision/eye MP:0005391 9.1 PAX6 PITX2 PITX3 CDKN1B CRYGS FOXC1

Drugs & Therapeutics for Anterior Segment Mesenchymal Dysgenesis

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

Genetic Tests for Anterior Segment Mesenchymal Dysgenesis

Genetic tests related to Anterior Segment Mesenchymal Dysgenesis:

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

Anatomical Context for Anterior Segment Mesenchymal Dysgenesis

MalaCards organs/tissues related to Anterior Segment Mesenchymal Dysgenesis:

39
Eye

Publications for Anterior Segment Mesenchymal Dysgenesis

Articles related to Anterior Segment Mesenchymal Dysgenesis:

id 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 Mesenchymal Dysgenesis

Expression for Anterior Segment Mesenchymal Dysgenesis

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

Pathways for Anterior Segment Mesenchymal Dysgenesis

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.81 FOXC1 PAX6 PITX2
2 11.13 CDKN1B CDKN1C
3 10.62 FOXC1 PITX2
4 10.1 CDKN1C PITX3

GO Terms for Anterior Segment Mesenchymal Dysgenesis

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

(show all 27)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.93 FOXC1 PAX6 PITX2 PITX3
2 positive regulation of transcription, DNA-templated GO:0045893 9.83 CDKN1C FOXC1 PAX6 PITX2 PITX3
3 transcription from RNA polymerase II promoter GO:0006366 9.8 FOXC1 FOXE3 PAX6 PITX2 PITX3
4 brain development GO:0007420 9.78 FOXC1 PAX6 PITX2
5 animal organ morphogenesis GO:0009887 9.71 PAX6 PITX2 PITX3
6 regulation of cell migration GO:0030334 9.63 PAX6 PITX2
7 negative regulation of epithelial cell proliferation GO:0050680 9.63 CDKN1B CDKN1C PAX6
8 odontogenesis of dentin-containing tooth GO:0042475 9.62 FOXC1 PITX2
9 blood vessel development GO:0001568 9.62 FOXC1 PAX6
10 placenta development GO:0001890 9.61 CDKN1B CDKN1C
11 pituitary gland development GO:0021983 9.6 PAX6 PITX2
12 negative regulation of mitotic cell cycle GO:0045930 9.59 CDKN1B FOXC1
13 positive regulation of DNA binding GO:0043388 9.58 FOXC1 PITX2
14 negative regulation of protein serine/threonine kinase activity GO:0071901 9.58 CDKN1B CDKN1C
15 negative regulation of phosphorylation GO:0042326 9.57 CDKN1B CDKN1C
16 negative regulation of neurogenesis GO:0050768 9.56 PAX6 PITX3
17 regulation of exit from mitosis GO:0007096 9.55 CDKN1B CDKN1C
18 negative regulation of kinase activity GO:0033673 9.52 CDKN1B CDKN1C
19 digestive system development GO:0055123 9.51 CDKN1C PITX2
20 cornea development in camera-type eye GO:0061303 9.49 FOXE3 PAX6
21 lacrimal gland development GO:0032808 9.48 FOXC1 PAX6
22 eye development GO:0001654 9.43 FOXC1 FOXE3 PAX6
23 negative regulation of cyclin-dependent protein kinase activity GO:1904030 9.37 CDKN1B CDKN1C
24 iris morphogenesis GO:0061072 9.33 FOXE3 PAX6 PITX2
25 regulation of lens fiber cell differentiation GO:1902746 9.32 CDKN1B CDKN1C
26 lens development in camera-type eye GO:0002088 9.26 CRYGS FOXE3 PAX6 PITX3
27 camera-type eye development GO:0043010 9.02 CDKN1C FOXC1 FOXE3 PAX6 PITX2

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

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.85 FOXC1 FOXE3 PAX6 PITX2 PITX3
2 transcription factor activity, sequence-specific DNA binding GO:0003700 9.65 FOXC1 FOXE3 PAX6 PITX2 PITX3
3 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.58 PAX6 PITX2 PITX3
4 transcription factor binding GO:0008134 9.54 FOXC1 PAX6 PITX2
5 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.5 PAX6 PITX2 PITX3
6 protein kinase inhibitor activity GO:0004860 9.43 CDKN1B CDKN1C
7 sequence-specific DNA binding GO:0043565 9.35 FOXC1 FOXE3 PAX6 PITX2 PITX3
8 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 9.16 CDKN1B CDKN1C
9 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 8.92 FOXC1 FOXE3 PAX6 PITX2

Sources for Anterior Segment Mesenchymal Dysgenesis

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....