ASMD
MCID: ANT026
MIFTS: 37

Anterior Segment Mesenchymal Dysgenesis (ASMD) malady

Eye diseases, Fetal diseases, Genetic diseases categories

Summaries for Anterior Segment Mesenchymal Dysgenesis

About this section
Sources:
63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Wikipedia:63 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 foxe3-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. Affiliated tissues include eye, and related mouse phenotypes are respiratory system and pigmentation.

Description from OMIM:46 107250

Aliases & Classifications for Anterior Segment Mesenchymal Dysgenesis

About this section
Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 60UMLS, 48Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48

Aliases & Descriptions:

anterior segment mesenchymal dysgenesis 42 20 22 46 44 60
familial ocular anterior segment mesenchymal dysgenesis 48
anterior segment ocular dysgenesis 42
asod 42
asmd 42


External Ids:

OMIM46 107250
ICD10 via Orphanet26 Q13.8

Related Diseases for Anterior Segment Mesenchymal Dysgenesis

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of diseases related to Anterior Segment Mesenchymal Dysgenesis:



Diseases related to anterior segment mesenchymal dysgenesis

Clinical Features for Anterior Segment Mesenchymal Dysgenesis

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

107250

Clinical synopsis from OMIM:

107250

Drugs & Therapeutics for Anterior Segment Mesenchymal Dysgenesis

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Anterior Segment Mesenchymal Dysgenesis:

32
Eye

Animal Models for Anterior Segment Mesenchymal Dysgenesis or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Anterior Segment Mesenchymal Dysgenesis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.6PAX6, PITX2, PITX3
2MP:00011868.5PAX6, PITX2, PITX3
3MP:00053918.2PAX6, PITX2, PITX3, FOXE3
4MP:00036317.9FOXE3, PITX3, PITX2, PAX6

Publications for Anterior Segment Mesenchymal Dysgenesis

About this section

Genetic Variations for Anterior Segment Mesenchymal Dysgenesis

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Anterior Segment Mesenchymal Dysgenesis:

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

Expression for genes affiliated with Anterior Segment Mesenchymal Dysgenesis

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Anterior Segment Mesenchymal Dysgenesis

About this section
Sources:
44Novoseek
See all sources

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

idCompoundScoreTop Affiliating Genes
1ptx1449.4PITX2, PITX3

GO Terms for genes affiliated with Anterior Segment Mesenchymal Dysgenesis

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Anterior Segment Mesenchymal Dysgenesis

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet