Details of Disease | DrugMAP

General Information of Disease (ID: DISK5MO8)

Disease Name	Leber congenital amaurosis 11
Synonyms	amaurosis congenita of Leber, type 11; Leber congenital amaurosis 11; Leber congenital amaurosis type 11; LCA11; IMPDH1 Leber congenital amaurosis; Leber congenital amaurosis caused by mutation in IMPDH1
Definition	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene.
Disease Hierarchy	DISMGH8F: Leber congenital amaurosis DISK5MO8: Leber congenital amaurosis 11
Disease Identifiers	MONDO ID MONDO_0013454 UMLS CUI C1840284 OMIM ID 613837 MedGen ID 326698

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
IMPDH1	TT3GRLK	Limited	Genetic Variation	[1]
IMPDH1	TT3GRLK	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IMPDH1	OT6QGM5Y	Definitive	Autosomal dominant	[2]
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References

1	Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2006 Jan;47(1):34-42. doi: 10.1167/iovs.05-0868.
2	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.