Details of Disease

General Information of Disease (ID: DIS12OKO)

Disease Name Anterior segment dysgenesis
Synonyms ASMD; familial ocular anterior segment mesenchymal dysgenesis; ASGD; anterior segment ocular dysgenesis; anterior segment mesenchymal dysgenesis; ASOD
Definition
A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis).
Disease Hierarchy
DISQCXZX: Disorder of development or morphogenesis
DISB52BH: Eye disorder
DISYKSRF: Genetic disease
DIS12OKO: Anterior segment dysgenesis
Disease Identifiers
MONDO ID
MONDO_0019503
MESH ID
C537775
UMLS CUI
C1862839
MedGen ID
350766
HPO ID
HP:0007700
Orphanet ID
88632

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FOXE3 OTAUDKC1 Supportive Autosomal dominant [1]
PITX3 OTE2KT8P Strong Genetic Variation [2]
SLC7A4 OTAVC6QS Strong Biomarker [3]
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References

1 A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly. Eur J Hum Genet. 2011 Mar;19(3):293-9. doi: 10.1038/ejhg.2010.210. Epub 2010 Dec 8.
2 Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.Am J Med Genet B Neuropsychiatr Genet. 2012 Mar;159B(2):236-42. doi: 10.1002/ajmg.b.32020. Epub 2012 Jan 5.
3 The mouse Cat4 locus maps to chromosome 8 and mutants express lens-corneal adhesion.Mamm Genome. 1997 Jun;8(6):403-6. doi: 10.1007/s003359900456.