Details of Disease | DrugMAP

General Information of Disease (ID: DISPEZG6)

Disease Name	Isolated aniridia
Synonyms	aniridia without systemic involvement; nonsyndromic aniridia
Definition	Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.
Disease Hierarchy	DISYKSRF: Genetic disease DIS1P333: Aniridia DISPEZG6: Isolated aniridia

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FOXC1	TTNT3YA	Supportive	Autosomal dominant	[1]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FOXC1	OTOWZGYO	Supportive	Autosomal dominant	[1]
PAX6	OTOC9876	Supportive	Autosomal dominant	[2]
TRIM44	OT0B1T2B	Supportive	Autosomal dominant	[3]
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References

1	Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia. Invest Ophthalmol Vis Sci. 2009 Aug;50(8):3573-9. doi: 10.1167/iovs.08-3032. Epub 2009 Mar 11.
2	PAX6-Related Aniridia. 2003 May 20 [updated 2018 Oct 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
3	Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression. Hum Mutat. 2015 Dec;36(12):1164-7. doi: 10.1002/humu.22907. Epub 2015 Oct 9.