MCID: ANT026
MIFTS: 38

Anterior Segment Mesenchymal Dysgenesis malady

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

Aliases & Classifications for Anterior Segment Mesenchymal Dysgenesis

About this section

Aliases & Descriptions for Anterior Segment Mesenchymal Dysgenesis:

Name: Anterior Segment Mesenchymal Dysgenesis 51 11 47 24 69 26 12 49 67
Familial Ocular Anterior Segment Mesenchymal Dysgenesis 47 53 69
Anterior Segment Ocular Dysgenesis 47 24 69
Asmd 47 24 69
 
Asod 47 24 69
Axenfeld-Rieger Syndrome, Type 3 67
Foxe3-Related Ocular Disorder 47
Irido-Corneal Dysgenesis 67

Characteristics:

Orphanet epidemiological data:

53

HPO:

63
anterior segment mesenchymal dysgenesis:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 107250
Disease Ontology11 DOID:0060605
ICD1029 Q13.8
Orphanet53 ORPHA88632
ICD10 via Orphanet30 Q13.8
MedGen36 C1862839
MeSH38 D005124

Summaries for Anterior Segment Mesenchymal Dysgenesis

About this section
UniProtKB/Swiss-Prot:69 Anterior segment mesenchymal dysgenesis: A range of developmental defects in structures at the front of the eye, resulting from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to the cornea, iris, and other components of the anterior chamber during eye development. Different mature anterior segment anomalies may exist alone or in combination, and are associated with an increased risk of glaucoma and corneal opacity. Conditions falling within the phenotypic spectrum of anterior segment anomalies include aniridia, posterior embryotoxon, 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, posterior polar cataract and posterior polar cataract. An important gene associated with Anterior Segment Mesenchymal Dysgenesis is FOXE3 (Forkhead Box E3), and among its related pathways is Heart Development. Affiliated tissues include eye, and related mouse phenotypes are respiratory system and liver/biliary system.

Wikipedia:70 Anterior segment dysgenesis (ASD) is a failure of the normal development of the tissues of the anterior... more...

Description from OMIM:51 107250

Related Diseases for Anterior Segment Mesenchymal Dysgenesis

About this section

Graphical network of diseases related to Anterior Segment Mesenchymal Dysgenesis:



Diseases related to anterior segment mesenchymal dysgenesis

Symptoms for Anterior Segment Mesenchymal Dysgenesis

About this section

Symptoms by clinical synopsis from OMIM:

107250

Clinical features from OMIM:

107250

Human phenotypes related to Anterior Segment Mesenchymal Dysgenesis:

 63
id Description HPO Frequency HPO Source Accession
1 posterior polar cataract63 47% HP:0001115
2 anterior segment dysgenesis63 7% HP:0007700
3 opacification of the corneal stroma63 HP:0007759

Drugs & Therapeutics for Anterior Segment Mesenchymal Dysgenesis

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Anterior Segment Mesenchymal Dysgenesis

Genetic Tests for Anterior Segment Mesenchymal Dysgenesis

About this section

Genetic tests related to Anterior Segment Mesenchymal Dysgenesis:

id Genetic test Affiliating Genes
1 Anterior Segment Mesenchymal Dysgenesis26 24 PITX3

Anatomical Context for Anterior Segment Mesenchymal Dysgenesis

About this section

MalaCards organs/tissues related to Anterior Segment Mesenchymal Dysgenesis:

35
Eye

Animal Models for Anterior Segment Mesenchymal Dysgenesis or affiliated genes

About this section

MGI Mouse Phenotypes related to Anterior Segment Mesenchymal Dysgenesis:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.9FOXC1, PITX2, PITX3
2MP:00053708.9FOXC1, PITX2, PITX3
3MP:00011868.9FOXC1, PITX2, PITX3

Publications for Anterior Segment Mesenchymal Dysgenesis

About this section

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
Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations. (6801987)
1982
6
Anterior segment mesenchymal dysgenesis: probable linkage to the MNS blood group on chromosome 4. (6978612)
1982

Variations for Anterior Segment Mesenchymal Dysgenesis

About this section

UniProtKB/Swiss-Prot genetic disease variations for Anterior Segment Mesenchymal Dysgenesis:

69
id Symbol AA change Variation ID SNP ID
1FOXE3p.Arg90LeuVAR_062584rs371048362

Clinvar genetic disease variations for Anterior Segment Mesenchymal Dysgenesis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PITX2NM_153427.2(PITX2): c.*454C> TSNVPathogenicrs6533526GRCh38Chr 4, 110617671: 110617671
2FOXE3NM_012186.2(FOXE3): c.959G> T (p.Ter320Leu)SNVPathogenicrs387906793GRCh37Chr 1, 47882946: 47882946
3PITX3PITX3, 17-BP DUP, NT657duplicationPathogenicChr na, -1: -1
4FOXE3FOXE3, 1-BP INS, 943GinsertionPathogenicChr na, -1: -1
5FOXC1FOXC1, 11-BP DELdeletionPathogenicChr na, -1: -1
6FOXC1NM_001453.2(FOXC1): c.335T> C (p.Phe112Ser)SNVPathogenicrs104893951GRCh37Chr 6, 1611015: 1611015
7FOXC1NM_001453.2(FOXC1): c.388C> T (p.Leu130Phe)SNVPathogenicrs121909338GRCh37Chr 6, 1611068: 1611068
8FOXC1NM_001453.2(FOXC1): c.358C> T (p.Gln120Ter)SNVPathogenicrs121909339GRCh37Chr 6, 1611038: 1611038

Expression for genes affiliated with Anterior Segment Mesenchymal Dysgenesis

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

Pathways for genes affiliated with Anterior Segment Mesenchymal Dysgenesis

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
19.1FOXC1, PITX2

GO Terms for genes affiliated with Anterior Segment Mesenchymal Dysgenesis

About this section

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

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:00056679.4FOXE3, PITX2

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1iris morphogenesisGO:006107210.1FOXE3, PITX2
2animal organ morphogenesisGO:00098879.7PITX2, PITX3
3lens development in camera-type eyeGO:00020889.7FOXE3, PITX3
4eye developmentGO:00016549.7FOXC1, FOXE3
5in utero embryonic developmentGO:00017019.6FOXC1, PITX2
6odontogenesis of dentin-containing toothGO:00424759.5FOXC1, PITX2
7heart developmentGO:00075079.1FOXC1, PITX2
8camera-type eye developmentGO:00430109.0FOXC1, FOXE3, PITX2
9brain developmentGO:00074209.0FOXC1, PITX2
10positive regulation of transcription, DNA-templatedGO:00458938.7FOXC1, PITX2, PITX3
11positive regulation of transcription from RNA polymerase II promoterGO:00459448.5FOXC1, PITX2, PITX3
12transcription from RNA polymerase II promoterGO:00063668.3FOXC1, FOXE3, PITX2, PITX3

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

idNameGO IDScoreTop Affiliating Genes
1transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.7PITX2, PITX3
2RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:00009818.7FOXC1, FOXE3, PITX2
3sequence-specific DNA bindingGO:00435658.6FOXC1, FOXE3, PITX2
4transcription factor activity, sequence-specific DNA bindingGO:00037008.3FOXC1, FOXE3, PITX2

Sources for Anterior Segment Mesenchymal Dysgenesis

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet