Details of Disease

General Information of Disease (ID: DISBNBKQ)

Disease Name Leber congenital amaurosis 10
Synonyms
amaurosis congenita of Leber, type 10; Leber congenital amaurosis 10; CEP290 Leber congenital amaurosis; Leber congenital amaurosis caused by mutation in CEP290; Leber congenital amaurosis type 10; LCA10
Definition Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene.
Disease Hierarchy
DISHMOL5: Retinal ciliopathy
DISUS6C6: CEP290-related ciliopathy
DISMGH8F: Leber congenital amaurosis
DISBNBKQ: Leber congenital amaurosis 10
Disease Identifiers
MONDO ID
MONDO_0012723
MESH ID
C565720
UMLS CUI
C1857821
OMIM ID
611755
MedGen ID
346672

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
CEP290 TT3XBOV Limited Biomarker [1]
CEP290 TT3XBOV Strong Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CEP290 OTVN52VH Strong Autosomal recessive [2]
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References

1 Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.Ophthalmology. 2018 Dec;125(12):1937-1952. doi: 10.1016/j.ophtha.2018.05.026. Epub 2018 Jul 25.
2 Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet. 2006 Sep;79(3):556-61. doi: 10.1086/507318. Epub 2006 Jul 11.