Details of Disease

General Information of Disease (ID: DISRS4F2)

Disease Name Leber congenital amaurosis 6
Synonyms LCA6; Leber congenital amaurosis 6; Leber congenital amaurosis caused by mutation in RPGRIP1; Leber congenital amaurosis type 6; RPGRIP1 Leber congenital amaurosis
Definition Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene.
Disease Hierarchy
DISMGH8F: Leber congenital amaurosis
DISRS4F2: Leber congenital amaurosis 6
Disease Identifiers
MONDO ID
MONDO_0013446
MESH ID
C565327
UMLS CUI
C1854260
OMIM ID
613826
MedGen ID
344245

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RPGRIP1 OTABESO9 Definitive Autosomal recessive [1]
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References

1 Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am J Hum Genet. 2001 May;68(5):1295-8. doi: 10.1086/320113. Epub 2001 Mar 29.