ASMD
MCID: ANT026
MIFTS: 32

Anterior Segment Mesenchymal Dysgenesis (ASMD) malady

Eye, Fetal, Genetic categories

Summaries for Anterior Segment Mesenchymal Dysgenesis

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Anterior segment dysgenesis (ASD) is a failure of the normal development of the tissues of the anterior... more...

MalaCards: 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. An important gene associated with Anterior Segment Mesenchymal Dysgenesis is FOXE3 (forkhead box E3). The compound ptx1 have been mentioned in the context of this disorder. Related mouse phenotypes are respiratory system and pigmentation.

Description from OMIM:47 107250

Aliases & Classifications for Anterior Segment Mesenchymal Dysgenesis

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Genetic
Anatomical: Eye


Characteristics (Orphanet epidemiological data):

49

Aliases & Descriptions:

anterior segment mesenchymal dysgenesis 43 20 22 47 45 61
familial ocular anterior segment mesenchymal dysgenesis 49
anterior segment ocular dysgenesis 43
asod 43
asmd 43


External Ids:

OMIM47 107250
ICD10 via Orphanet26 Q13.8

Related Diseases for Anterior Segment Mesenchymal Dysgenesis

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Anterior Segment Mesenchymal Dysgenesis:



Diseases related to anterior segment mesenchymal dysgenesis

Clinical Features for Anterior Segment Mesenchymal Dysgenesis

Sources:
47OMIM
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Clinical features from OMIM:

107250

Clinical synopsis from OMIM:

107250

Drugs & Therapeutics for Anterior Segment Mesenchymal Dysgenesis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Anterior Segment Mesenchymal Dysgenesis

Drug clinical trials:

Search ClinicalTrials for Anterior Segment Mesenchymal Dysgenesis

Search NIH Clinical Center for Anterior Segment Mesenchymal Dysgenesis

Search CenterWatch for Anterior Segment Mesenchymal Dysgenesis

Genetic Tests for Anterior Segment Mesenchymal Dysgenesis

Sources:
20GeneTests, 22GTR
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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

Animal Models for Anterior Segment Mesenchymal Dysgenesis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Anterior Segment Mesenchymal Dysgenesis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.6PITX2, PITX3, PAX6
2MP:00011868.5PAX6, PITX2, PITX3
3MP:00053918.2FOXE3, PITX3, PITX2, PAX6
4MP:00036317.9PAX6, FOXE3, PITX3, PITX2

Publications for Anterior Segment Mesenchymal Dysgenesis

Sources:
51PubMed
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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

Genetic Variations for Anterior Segment Mesenchymal Dysgenesis

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Anterior Segment Mesenchymal Dysgenesis:

63
id Symbol AA change Variation SNP ID
1FOXE3p.Arg90LeuVAR_062584

Expression for genes affiliated with Anterior Segment Mesenchymal Dysgenesis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Anterior Segment Mesenchymal Dysgenesis

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

Pathways for genes affiliated with Anterior Segment Mesenchymal Dysgenesis

Compounds for genes affiliated with Anterior Segment Mesenchymal Dysgenesis

Sources:
45Novoseek
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Compounds related to Anterior Segment Mesenchymal Dysgenesis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ptx1459.4PITX2, PITX3

GO Terms for genes affiliated with Anterior Segment Mesenchymal Dysgenesis

Sources:
16Gene Ontology
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Cellular components related to Anterior Segment Mesenchymal Dysgenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056679.5PITX2, FOXE3

Biological processes related to Anterior Segment Mesenchymal Dysgenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lens morphogenesis in camera-type eyeGO:0020899.6PITX3, FOXE3
2iris morphogenesisGO:0610729.2PAX6, PITX2
3lens development in camera-type eyeGO:0020889.1PAX6, PITX3
4neuron migrationGO:0017649.1PAX6, PITX2
5regulation of cell migrationGO:0303349.0PITX2, PAX6
6organ morphogenesisGO:0098878.8PAX6, PITX3

Molecular functions related to Anterior Segment Mesenchymal Dysgenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1double-stranded DNA bindingGO:0036909.2PAX6, FOXE3
2transcription factor bindingGO:0081348.4PAX6, PITX2, FOXE3
3sequence-specific DNA binding transcription factor activityGO:0037008.1PAX6, PITX2, PITX3, FOXE3

Products for genes affiliated with Anterior Segment Mesenchymal Dysgenesis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Anterior Segment Mesenchymal Dysgenesis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet