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

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Aliases & Descriptions for Anterior Segment Mesenchymal Dysgenesis:

Name: Anterior Segment Mesenchymal Dysgenesis 52 11 48 24 70 27 12 50 13 68
Familial Ocular Anterior Segment Mesenchymal Dysgenesis 48 54 70
Anterior Segment Ocular Dysgenesis 48 24 70
Asmd 48 24 70
Asod 48 24 70
 
Axenfeld-Rieger Syndrome, Type 3 68
Anterior Segment Dysgenesis 1 70
Foxe3-Related Ocular Disorder 48
Irido-Corneal Dysgenesis 68
Asgd1 70

Characteristics:

Orphanet epidemiological data:

54

HPO:

64
anterior segment mesenchymal dysgenesis:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 107250
Disease Ontology11 DOID:0060605
ICD1030 Q13.8
Orphanet54 ORPHA88632
ICD10 via Orphanet31 Q13.8
MedGen37 C1862839
MeSH39 D005124

Summaries for Anterior Segment Mesenchymal Dysgenesis

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UniProtKB/Swiss-Prot:70 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 posterior polar cataract, anterior segment dysgenesis and opacification of the corneal stroma. An important gene associated with Anterior Segment Mesenchymal Dysgenesis is PITX3 (Paired Like Homeodomain 3), and among its related pathways are Heart Development and Dopaminergic Neurogenesis. Affiliated tissues include eye, and related mouse phenotypes are craniofacial and endocrine/exocrine gland.

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

Description from OMIM:52 107250

Related Diseases for Anterior Segment Mesenchymal Dysgenesis

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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)
idRelated DiseaseScoreTop Affiliating Genes
1foxe3-related anterior segment mesenchymal dysgenesis12.2
2pitx3-related anterior segment mesenchymal dysgenesis12.2
3axenfeld-rieger syndrome, type 311.4
4scapuloperoneal syndrome, myopathic type10.1FOXC1, PITX2
5conjunctival folliculosis10.0FOXC1, PITX2
6cardiac arrhythmia, ankyrin-b-related10.0FOXC1, PITX2
7cardiomyopathy, dilated, 1ii10.0CRYGS, PITX3
8keloids10.0
9kcnj10-related pendred syndrome9.9FOXC1, PAX6
10meier-gorlin syndrome 19.9FOXE3, PAX6, PITX3
11ring dermoid of cornea9.8PAX6, PITX2, PITX3
12rubinstein-taybi syndrome9.8
13peters anomaly9.8FOXC1, PAX6
14cataract9.8
15orbital granuloma9.8FOXC1, PAX6, PITX2
16skin granular cell tumor9.8FOXC1, PAX6, PITX2
17cornea plana9.8FOXC1, PAX6, PITX2
18hypertrophy of breast9.8FOXC1, PAX6, PITX2
19intermixed schwannian stroma-rich ganglioneuroblastoma9.7CDKN1C, PAX6
20deafness, autosomal recessive 919.7FOXC1, FOXE3, PAX6, PITX2
21pseudopterygium9.7CRYGS, FOXE3, PAX6, PITX3
22jph2-related familial hypertrophic cardiomyopathy9.5FOXC1, FOXE3, PAX6, PITX2, PITX3
23myopia 79.5FOXC1, FOXE3, PAX6, PITX2, PITX3
24muir-torre syndrome9.5FOXC1, FOXE3, PAX6, PITX2, PITX3
25aphakia, congenital primary8.9CDKN1B, 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

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Symptoms by clinical synopsis from OMIM:

107250

Clinical features from OMIM:

107250

Human phenotypes related to Anterior Segment Mesenchymal Dysgenesis:

 64
id Description HPO Frequency HPO Source Accession
1 posterior polar cataract64 HP:0001115
2 anterior segment dysgenesis64 HP:0007700
3 opacification of the corneal stroma64 HP:0007759

MGI Mouse Phenotypes related to Anterior Segment Mesenchymal Dysgenesis according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1CDKN1B, FOXC1, PAX6, PITX2
2MP:00053798.7CDKN1B, FOXC1, PAX6, PITX2, PITX3
3MP:00011868.7CDKN1B, FOXC1, PAX6, PITX2, PITX3
4MP:00053898.7CDKN1B, FOXC1, PAX6, PITX2, PITX3
5MP:00053888.7CDKN1B, FOXC1, PAX6, PITX2, PITX3
6MP:00053908.6CDKN1B, FOXC1, PAX6, PITX2, PITX3
7MP:00053917.4CDKN1B, CRYGS, FOXC1, PAX6, PITX2, PITX3

Drugs & Therapeutics for Anterior Segment Mesenchymal Dysgenesis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Anterior Segment Mesenchymal Dysgenesis

Genetic Tests for Anterior Segment Mesenchymal Dysgenesis

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Genetic tests related to Anterior Segment Mesenchymal Dysgenesis:

id Genetic test Affiliating Genes
1 Anterior Segment Mesenchymal Dysgenesis27 24 PITX3

Anatomical Context for Anterior Segment Mesenchymal Dysgenesis

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MalaCards organs/tissues related to Anterior Segment Mesenchymal Dysgenesis:

36
Eye

Publications for Anterior Segment Mesenchymal Dysgenesis

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Articles related to Anterior Segment Mesenchymal Dysgenesis:

idTitleAuthorsYear
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

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Expression for genes affiliated with Anterior Segment Mesenchymal Dysgenesis

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

Pathways for genes affiliated with Anterior Segment Mesenchymal Dysgenesis

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

idSuper pathwaysScoreTop Affiliating Genes
19.6FOXC1, PITX2
29.5CDKN1C, PITX3
39.3CDKN1B, CDKN1C
4
Show member pathways
8.8FOXC1, PAX6, PITX2

GO Terms for genes affiliated with Anterior Segment Mesenchymal Dysgenesis

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

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1odontogenesis of dentin-containing toothGO:004247510.4FOXC1, PITX2
2positive regulation of DNA bindingGO:004338810.4FOXC1, PITX2
3negative regulation of mitotic cell cycleGO:004593010.3CDKN1B, FOXC1
4digestive system developmentGO:005512310.2CDKN1C, PITX2
5negative regulation of cyclin-dependent protein kinase activityGO:190403010.1CDKN1B, CDKN1C
6negative regulation of kinase activityGO:003367310.1CDKN1B, CDKN1C
7negative regulation of phosphorylationGO:004232610.1CDKN1B, CDKN1C
8negative regulation of protein serine/threonine kinase activityGO:007190110.1CDKN1B, CDKN1C
9placenta developmentGO:000189010.1CDKN1B, CDKN1C
10negative regulation of neurogenesisGO:005076810.1PAX6, PITX3
11cornea development in camera-type eyeGO:006130310.0FOXE3, PAX6
12regulation of exit from mitosisGO:000709610.0CDKN1B, CDKN1C
13regulation of lens fiber cell differentiationGO:190274610.0CDKN1B, CDKN1C
14pituitary gland developmentGO:002198310.0PAX6, PITX2
15blood vessel developmentGO:000156810.0FOXC1, PAX6
16lacrimal gland developmentGO:003280810.0FOXC1, PAX6
17regulation of cell migrationGO:00303349.9PAX6, PITX2
18animal organ morphogenesisGO:00098879.7PAX6, PITX2, PITX3
19iris morphogenesisGO:00610729.6FOXE3, PAX6, PITX2
20eye developmentGO:00016549.6FOXC1, FOXE3, PAX6
21brain developmentGO:00074209.5FOXC1, PAX6, PITX2
22negative regulation of epithelial cell proliferationGO:00506809.3CDKN1B, CDKN1C, PAX6
23lens development in camera-type eyeGO:00020889.2CRYGS, FOXE3, PAX6, PITX3
24positive regulation of transcription from RNA polymerase II promoterGO:00459449.2FOXC1, PAX6, PITX2, PITX3
25camera-type eye developmentGO:00430108.5CDKN1C, FOXC1, FOXE3, PAX6, PITX2
26positive regulation of transcription, DNA-templatedGO:00458938.5CDKN1C, FOXC1, PAX6, PITX2, PITX3
27transcription from RNA polymerase II promoterGO:00063668.1FOXC1, FOXE3, PAX6, PITX2, PITX3

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1cyclin-dependent protein serine/threonine kinase inhibitor activityGO:000486110.1CDKN1B, CDKN1C
2protein kinase inhibitor activityGO:000486010.1CDKN1B, CDKN1C
3RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.6PAX6, PITX2, PITX3
4transcription factor bindingGO:00081349.4FOXC1, PAX6, PITX2
5RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:00009819.2FOXC1, FOXE3, PAX6, PITX2
6transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010778.9PAX6, PITX2, PITX3
7DNA bindingGO:00036778.8FOXC1, FOXE3, PAX6, PITX2, PITX3
8sequence-specific DNA bindingGO:00435658.8FOXC1, FOXE3, PAX6, PITX2, PITX3
9transcription factor activity, sequence-specific DNA bindingGO:00037008.7FOXC1, FOXE3, PAX6, PITX2, PITX3

Sources for Anterior Segment Mesenchymal Dysgenesis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet