ASMD
MCID: ANT026
MIFTS: 38

Anterior Segment Mesenchymal Dysgenesis (ASMD) malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases categories

Summaries for Anterior Segment Mesenchymal Dysgenesis

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 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 cataract and congenital aphakia. An important gene associated with Anterior Segment Mesenchymal Dysgenesis is PITX3 (paired-like homeodomain 3). Affiliated tissues include eye, and related mouse phenotypes are pigmentation and vision/eye.

Description from OMIM:48 107250

Aliases & Classifications for Anterior Segment Mesenchymal Dysgenesis

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44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50

Aliases & Descriptions:

anterior segment mesenchymal dysgenesis 44 21 23 48 46 63
familial ocular anterior segment mesenchymal dysgenesis 50
anterior segment ocular dysgenesis 44
asod 44
asmd 44


External Ids:

OMIM48 107250
ICD10 via Orphanet27 Q13.8

Related Diseases for Anterior Segment Mesenchymal Dysgenesis

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18GeneCards, 19GeneDecks
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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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48OMIM
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Symptoms by clinical synopsis from OMIM:

107250

Clinical features from OMIM:

107250

Drugs & Therapeutics for Anterior Segment Mesenchymal Dysgenesis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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

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21GeneTests, 23GTR
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Genetic tests related to Anterior Segment Mesenchymal Dysgenesis:

id Genetic test Affiliating Genes
1 Anterior Segment Mesenchymal Dysgenesis21 23 PITX3

Anatomical Context for Anterior Segment Mesenchymal Dysgenesis

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34MalaCards
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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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38MGI
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MGI Mouse Phenotypes related to Anterior Segment Mesenchymal Dysgenesis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3PAX6, PITX3
2MP:00053918.8FOXE3, PAX6, PITX3
3MP:00036318.8FOXE3, PAX6, PITX3
4MP:00053868.5PITX3, PAX6, FOXE3

Publications for Anterior Segment Mesenchymal Dysgenesis

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53PubMed
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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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Anterior Segment Mesenchymal Dysgenesis:

65
id Symbol AA change Variation ID SNP ID
1FOXE3p.Arg90LeuVAR_062584

Clinvar genetic disease variations for Anterior Segment Mesenchymal Dysgenesis:

1
id Gene Name Type Significance SNP ID Assembly Location
1FOXE3NM_012186.2(FOXE3): c.959G> T (p.Ter320Leu)single nucleotide variantPathogenicrs387906793GRCh37Chr 1, 47882946: 47882946

Expression for genes affiliated with Anterior Segment Mesenchymal Dysgenesis

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Anterior Segment Mesenchymal Dysgenesis

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Pathways for genes affiliated with Anterior Segment Mesenchymal Dysgenesis

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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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Sources:
17Gene Ontology
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Biological processes related to Anterior Segment Mesenchymal Dysgenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lens development in camera-type eyeGO:0020889.4PAX6, PITX3
2positive regulation of transcription, DNA-templatedGO:0458939.4PAX6, PITX3
3lens morphogenesis in camera-type eyeGO:0020899.4FOXE3, PITX3
4organ morphogenesisGO:0098879.3PITX3, PAX6
5transcription from RNA polymerase II promoterGO:0063669.0FOXE3, PAX6

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:0435659.3FOXE3, PITX3
2double-stranded DNA bindingGO:0036909.3FOXE3, PAX6
3transcription factor bindingGO:0081349.0FOXE3, PAX6
4sequence-specific DNA binding transcription factor activityGO:0037008.7FOXE3, PAX6, PITX3

Products for genes affiliated with Anterior Segment Mesenchymal Dysgenesis

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  • Antibodies
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Sources for Anterior Segment Mesenchymal Dysgenesis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet