Details of Disease | DrugMAP

General Information of Disease (ID: DIS4K5KH)

Disease Name	Anterior segment dysgenesis 1
Synonyms	ASMD; ASGD1; anterior segment ocular dysgenesis; anterior segment mesenchymal dysgenesis; anterior segment dysgenesis 1; anterior segment dysgenesis 1, multiple subtypes
Disease Hierarchy	DIS12OKO: Anterior segment dysgenesis DIS4K5KH: Anterior segment dysgenesis 1
Disease Identifiers	MONDO ID MONDO_0007138 UMLS CUI C4551992 OMIM ID 107250 MedGen ID 1631197

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FOXE3	OTAUDKC1	Definitive	Autosomal dominant	[1]
PITX3	OTE2KT8P	Definitive	Autosomal dominant	[2]
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References

1	FOXE3 mutations: genotype-phenotype correlations. Clin Genet. 2018 Apr;93(4):837-845. doi: 10.1111/cge.13177.
2	Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4). J Med Genet. 2004 Aug;41(8):e109. doi: 10.1136/jmg.2004.020289.