Details of Disease

General Information of Disease (ID: DIS3ICT1)

Disease Name Leber congenital amaurosis 8
Synonyms LCA8; Leber congenital amaurosis 8; CRB1 Leber congenital amaurosis; Leber congenital amaurosis type 8; Leber congenital amaurosis caused by mutation in CRB1
Definition Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene.
Disease Hierarchy
DISMGH8F: Leber congenital amaurosis
DIS3ICT1: Leber congenital amaurosis 8
Disease Identifiers
MONDO ID
MONDO_0013453
UMLS CUI
C3151202
OMIM ID
613835
MedGen ID
462552

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CRB2 OTG0L2CE Strong Biomarker [1]
CRB1 OTXYUNG0 Definitive Autosomal recessive [2]
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References

1 Targeted deletion of Crb1/Crb2 in the optic vesicle models key features of leber congenital amaurosis 8.Dev Biol. 2019 Sep 15;453(2):141-154. doi: 10.1016/j.ydbio.2019.05.008. Epub 2019 May 28.
2 A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis. Ophthalmic Genet. 2006 Mar;27(1):15-20. doi: 10.1080/13816810500481840.