Details of Disease

General Information of Disease (ID: DISZ95YB)

Disease Name Aniridia 1
Synonyms cataract, congenital, with late-onset corneal dystrophy; aniridia II; aniridia II, formerly; aniridia; aniridia 1; cataract with late-onset corneal dystrophy; AN1
Disease Hierarchy
DISPEZG6: Isolated aniridia
DISZ95YB: Aniridia 1
Disease Identifiers
MONDO ID
MONDO_0024507
UMLS CUI
C0344542
OMIM ID
106210
MedGen ID
576337
SNOMED CT ID
253231007

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
ELP4 OTP5GZ9V Limited Autosomal dominant [1]
PAX6 OTOC9876 Definitive Autosomal dominant [2]
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References

1 A deletion 3' to the PAX6 gene in familial aniridia cases. Mol Vis. 2007 Jul 23;13:1245-50.
2 A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation. Am J Med Genet A. 2007 Aug 1;143A(15):1802-5. doi: 10.1002/ajmg.a.31808.