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

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Aliases & Descriptions for Anterior Segment Mesenchymal Dysgenesis:

Name: Anterior Segment Mesenchymal Dysgenesis 52 11 48 24 70 27 12 50 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
Foxe3-Related Ocular Disorder 48
Irido-Corneal Dysgenesis 68

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 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 Increased shRNA abundance (Z-score > 2) and Decreased shRNA abundance (Z-score < -2).

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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Graphical network of 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 47% HP:0001115
2 anterior segment dysgenesis64 7% HP:0007700
3 opacification of the corneal stroma64 HP:0007759

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-359.1FOXC1, FOXE3
2GR00366-A-588.2FOXC1, FOXE3, PITX3

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.9FOXC1, PITX2, PITX3
2MP:00053708.9FOXC1, PITX2, PITX3
3MP:00011868.9FOXC1, 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
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:

70
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

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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
19.1FOXC1, PITX2

GO Terms for genes affiliated with Anterior Segment Mesenchymal Dysgenesis

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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:006107210.2FOXE3, PITX2
2animal organ morphogenesisGO:000988710.1PITX2, PITX3
3lens development in camera-type eyeGO:000208810.1FOXE3, PITX3
4brain developmentGO:00074209.9FOXC1, PITX2
5eye developmentGO:00016549.9FOXC1, FOXE3
6heart developmentGO:00075079.9FOXC1, PITX2
7in utero embryonic developmentGO:00017019.9FOXC1, PITX2
8odontogenesis of dentin-containing toothGO:00424759.9FOXC1, PITX2
9camera-type eye developmentGO:00430109.4FOXC1, FOXE3, PITX2
10positive regulation of transcription from RNA polymerase II promoterGO:00459449.2FOXC1, PITX2, PITX3
11positive regulation of transcription, DNA-templatedGO:00458939.2FOXC1, PITX2, PITX3
12transcription from RNA polymerase II promoterGO:00063668.0FOXC1, FOXE3, PITX2, 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, PITX2
2transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.3PITX2, PITX3
3sequence-specific DNA bindingGO:00435659.3FOXC1, FOXE3, PITX2
4transcription factor activity, sequence-specific DNA bindingGO:00037009.2FOXC1, FOXE3, PITX2

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