Details of Disease

General Information of Disease (ID: DIS2HWZU)

Disease Name Leber congenital amaurosis 16
Synonyms KCNJ13 Leber congenital amaurosis; Leber congenital amaurosis caused by mutation in KCNJ13; Leber congenital amaurosis type 16; Leber congenital amaurosis 16; LCA16
Definition Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene.
Disease Hierarchy
DISMGH8F: Leber congenital amaurosis
DIS2HWZU: Leber congenital amaurosis 16
Disease Identifiers
MONDO ID
MONDO_0013613
UMLS CUI
C3280062
OMIM ID
614186
MedGen ID
481692

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
KCNJ13 OTG1CNND Definitive Autosomal recessive [1]
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References

1 A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16). Hum Mutat. 2015 Jul;36(7):720-7. doi: 10.1002/humu.22807. Epub 2015 May 20.