MCID: ANT026
MIFTS: 36

Anterior Segment Mesenchymal Dysgenesis 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 50 46 23 68 25 12 48 66
Familial Ocular Anterior Segment Mesenchymal Dysgenesis 46 52 68
Anterior Segment Ocular Dysgenesis 46 23 68
Asod 46 23 68
 
Asmd 46 23 68
Axenfeld-Rieger Syndrome, Type 3 66
Foxe3-Related Ocular Disorder 46
Irido-Corneal Dysgenesis 66

Characteristics:

Orphanet epidemiological data:

52

HPO:

62
anterior segment mesenchymal dysgenesis:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 107250
Orphanet52 ORPHA88632
ICD10 via Orphanet29 Q13.8
MedGen35 C1862839
MeSH37 D005124

Summaries for Anterior Segment Mesenchymal Dysgenesis

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UniProtKB/Swiss-Prot:68 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). Affiliated tissues include eye, and related mouse phenotype pigmentation.

Wikipedia:69 Anterior segment dysgenesis (ASD) is a failure of the normal development of the tissues of the anterior... more...

Description from OMIM:50 107250

Related Diseases for Anterior Segment Mesenchymal Dysgenesis

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Graphical network of diseases related to Anterior Segment Mesenchymal Dysgenesis:



Diseases related to anterior segment mesenchymal dysgenesis

Symptoms for Anterior Segment Mesenchymal Dysgenesis

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Symptoms by clinical synopsis from OMIM:

107250

Clinical features from OMIM:

107250

HPO human phenotypes related to Anterior Segment Mesenchymal Dysgenesis:

(show all 7)
id Description Frequency HPO Source Accession
1 posterior polar cataract 47% HP:0001115
2 posterior polar cataract 29% HP:0001115
3 posterior polar cataract 16% HP:0001115
4 anterior segment dysgenesis 7% HP:0007700
5 posterior polar cataract 6% HP:0001115
6 anterior segment dysgenesis rare (5%) HP:0007700
7 opacification of the corneal stroma HP:0007759

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 Dysgenesis25 23 PITX3

Anatomical Context for Anterior Segment Mesenchymal Dysgenesis

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MalaCards organs/tissues related to Anterior Segment Mesenchymal Dysgenesis:

34
Eye

Animal Models for Anterior Segment Mesenchymal Dysgenesis or affiliated genes

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MGI Mouse Phenotypes related to Anterior Segment Mesenchymal Dysgenesis:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.7FOXC1, PITX3

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
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

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

68
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
1NM_012186.2(FOXE3): c.959G> T (p.Ter320Leu)single nucleotide variantPathogenicrs387906793GRCh37Chr 1, 47882946: 47882946
2PITX3PITX3, 17-BP DUP, NT657duplicationPathogenic
3FOXE3FOXE3, 1-BP INS, 943GinsertionPathogenic
4FOXC1FOXC1, 11-BP DELdeletionPathogenic
5FOXC1NM_001453.2(FOXC1): c.388C> T (p.Leu130Phe)single nucleotide variantPathogenicrs121909338GRCh37Chr 6, 1611068: 1611068

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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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:

idNameGO IDScoreTop Affiliating Genes
1eye developmentGO:00016549.6FOXC1, FOXE3
2camera-type eye developmentGO:00430109.6FOXC1, FOXE3
3lens development in camera-type eyeGO:00020889.1FOXE3, PITX3
4transcription from RNA polymerase II promoterGO:00063668.5FOXC1, FOXE3, PITX3

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:00009819.3FOXC1, FOXE3

Sources for Anterior Segment Mesenchymal Dysgenesis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet