ASMD
MCID: ANT026
MIFTS: 38

Anterior Segment Mesenchymal Dysgenesis (ASMD) malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases categories
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Summaries for Anterior Segment Mesenchymal Dysgenesis

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Wikipedia:65 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 familial ocular anterior segment mesenchymal dysgenesis, is related to cataract and congenital aphakia, and has symptoms including 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:46 107250

Aliases & Classifications for Anterior Segment Mesenchymal Dysgenesis

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 62UMLS, 48Orphanet, 26ICD10 via Orphanet
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Anterior Segment Mesenchymal Dysgenesis, Aliases & Descriptions:

Name: Anterior Segment Mesenchymal Dysgenesis 42 20 22 46 44 62
Familial Ocular Anterior Segment Mesenchymal Dysgenesis 48
Anterior Segment Ocular Dysgenesis 42
 
Asod 42
Asmd 42


Classifications:

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


Characteristics (Orphanet epidemiological data):

48

External Ids:

OMIM46 107250
ICD10 via Orphanet26 Q13.8

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:

32
Eye

Animal Models for Anterior Segment Mesenchymal Dysgenesis or affiliated genes

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MGI Mouse Phenotypes related to Anterior Segment Mesenchymal Dysgenesis:

36
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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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:

64
id Symbol AA change Variation ID SNP ID
1FOXE3p.Arg90LeuVAR_062584

Clinvar genetic disease variations for Anterior Segment Mesenchymal Dysgenesis:

6
id Gene Name 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

Expression for genes affiliated with Anterior Segment Mesenchymal Dysgenesis

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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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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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Sources for Anterior Segment Mesenchymal Dysgenesis

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet