Details of Disease

General Information of Disease (ID: DISF39MM)

Disease Name Leber congenital amaurosis 2
Synonyms
amaurosis congenita of Leber 2; amaurosis congenita of Leber, type 2; Leber congenital amaurosis caused by mutation in RPE65; LCA2; amaurosis congenita of Leber II; RPE65 Leber congenital amaurosis; Leber congenital amaurosis type 2; Leber congenital amaurosis 2
Definition Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene.
Disease Hierarchy
DISY89Y2: RPE65-related recessive retinopathy
DISMGH8F: Leber congenital amaurosis
DISF39MM: Leber congenital amaurosis 2
Disease Identifiers
MONDO ID
MONDO_0008765
MESH ID
C536601
UMLS CUI
C1859844
OMIM ID
204100
MedGen ID
348473

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RPE65 TTBOH16 Definitive Autosomal recessive [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RPE OT0XT3JU Strong Biomarker [2]
SYMPK OTYAUDXV Strong Genetic Variation [3]
RPE65 OTHS41XM Definitive Autosomal recessive [1]
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References

1 Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. Proc Natl Acad Sci U S A. 1998 Mar 17;95(6):3088-93. doi: 10.1073/pnas.95.6.3088.
2 Targeted Multifunctional Lipid ECO Plasmid DNA Nanoparticles as Efficient Non-viral Gene Therapy for Leber's Congenital Amaurosis.Mol Ther Nucleic Acids. 2017 Jun 16;7:42-52. doi: 10.1016/j.omtn.2017.02.005. Epub 2017 Feb 28.
3 Investor Outlook: Significance of the Positive LCA2 Gene Therapy Phase III Results.Hum Gene Ther Clin Dev. 2015 Dec;26(4):208-10. doi: 10.1089/humc.2015.29004.sch.