MCID: ANT026
MIFTS: 37

Anterior Segment Mesenchymal Dysgenesis malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Anterior Segment Mesenchymal Dysgenesis

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 43Novoseek, 22GTR, 60UMLS
See all sources

Anterior Segment Mesenchymal Dysgenesis, Aliases & Descriptions:

Name: Anterior Segment Mesenchymal Dysgenesis 45 10 41 20 43 22 60
Anterior Segment Ocular Dysgenesis 41
Axenfeld-Rieger Syndrome, Type 3 60
 
Asod 41
Asmd 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


External Ids:

OMIM45 107250

Summaries for Anterior Segment Mesenchymal Dysgenesis

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Wikipedia:63 Anterior segment dysgenesis (ASD) is a failure of the normal development of the tissues of the anterior... more...

MalaCards based summary: Anterior Segment Mesenchymal Dysgenesis, also known as anterior segment ocular dysgenesis, is related to cataract and foxe3-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 PITX3 (paired-like homeodomain 3), and among its related pathways is Transcriptional Regulatory Network in Embryonic Stem Cell. Affiliated tissues include eye, and related mouse phenotypes are pigmentation and respiratory system.

Description from OMIM:45 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 8)
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 autosomal dominant inheritance HP:0000006
8 opacification of the corneal stroma HP:0007759

Drugs & Therapeutics for Anterior Segment Mesenchymal Dysgenesis

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Drug clinical trials:

Search ClinicalTrials for Anterior Segment Mesenchymal Dysgenesis

Search 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 Dysgenesis20 22 PITX3

Anatomical Context for Anterior Segment Mesenchymal Dysgenesis

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MalaCards organs/tissues related to Anterior Segment Mesenchymal Dysgenesis:

31
Eye

Animal Models for Anterior Segment Mesenchymal Dysgenesis or affiliated genes

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MGI Mouse Phenotypes related to Anterior Segment Mesenchymal Dysgenesis:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.8PITX3, PAX6, FOXC1
2MP:00053888.7PITX3, PAX6, FOXC1
3MP:00107718.7FOXC1, PAX6, PITX3
4MP:00053798.6FOXC1, PAX6, PITX3
5MP:00053908.4PITX3, PAX6, FOXC1
6MP:00053918.3FOXC1, FOXE3, PAX6, PITX3
7MP:00036318.2FOXC1, FOXE3, PAX6, 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:

62
id Symbol AA change Variation ID SNP ID
1FOXE3p.Arg90LeuVAR_062584

Clinvar genetic disease variations for Anterior Segment Mesenchymal Dysgenesis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1FOXE3NM_012186.2(FOXE3): c.959G> T (p.Ter320Leu)single nucleotide variantPathogenicrs387906793GRCh37Chr 1, 47882946: 47882946
2PITX3PITX3, 17-BP DUP, NT657duplicationPathogenic
3FOXE3FOXE3, 1-BP INS, 943GinsertionPathogenic
4FOXC1NM_001453.2(FOXC1): c.392C> T (p.Ser131Leu)single nucleotide variantPathogenicrs104893957GRCh37Chr 6, 1611072: 1611072
5FOXC1NM_001453.2(FOXC1): c.335T> C (p.Phe112Ser)single nucleotide variantPathogenicrs104893951GRCh37Chr 6, 1611015: 1611015
6FOXC1NM_001453.2(FOXC1): c.67C> T (p.Gln23Ter)single nucleotide variantPathogenicrs104893952GRCh37Chr 6, 1610747: 1610747
7FOXC1NM_001453.2(FOXC1): c.245G> C (p.Ser82Thr)single nucleotide variantPathogenicrs104893953GRCh37Chr 6, 1610925: 1610925
8FOXC1NM_001453.2(FOXC1): c.388C> T (p.Leu130Phe)single nucleotide variantPathogenicrs121909338GRCh37Chr 6, 1611068: 1611068
9FOXC1NM_001453.2(FOXC1): c.358C> T (p.Gln120Ter)single nucleotide variantPathogenicrs121909339GRCh37Chr 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 pathways (with members indented)ScoreTop Affiliating Genes
19.1FOXC1, PAX6

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

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:00056679.1FOXC1, FOXE3

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1lens morphogenesis in camera-type eyeGO:00020899.7FOXE3, PITX3
2lens development in camera-type eyeGO:00020889.6PAX6, PITX3
3organ morphogenesisGO:00098879.5PAX6, PITX3
4lacrimal gland developmentGO:00328089.3FOXC1, PAX6
5eye developmentGO:00016549.3FOXC1, PAX6
6regulation of sequence-specific DNA binding transcription factor activityGO:00510909.1FOXC1, FOXE3
7pattern specification processGO:00073898.8FOXC1, FOXE3
8transcription from RNA polymerase II promoterGO:00063668.7PAX6, FOXE3, FOXC1
9positive regulation of transcription, DNA-templatedGO:00458938.6PITX3, PAX6, FOXC1

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00037059.1FOXC1, FOXE3
2DNA binding, bendingGO:00083019.0FOXC1, FOXE3
3double-stranded DNA bindingGO:00036908.7FOXC1, FOXE3, PAX6
4transcription factor bindingGO:00081348.6PAX6, FOXE3, FOXC1
5sequence-specific DNA bindingGO:00435658.4FOXC1, FOXE3, PITX3
6sequence-specific DNA binding transcription factor activityGO:00037008.2FOXC1, FOXE3, PAX6, PITX3

Products for genes affiliated with Anterior Segment Mesenchymal Dysgenesis

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Sources for Anterior Segment Mesenchymal Dysgenesis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet