Details of Disease

General Information of Disease (ID: DISOJMRP)

Disease Name Leber congenital amaurosis 14
Synonyms
retinal dystrophy, early-onset Severe, LRAT-related; retinitis pigmentosa, juvenile; retinitis pigmentosa, juvenile, LRAT-related; retinal dystrophy, early-onset severe; Leber congenital amaurosis type 14; Leber congenital amaurosis 14; Leber congenital amaurosis caused by mutation in LRAT; LRAT Leber congenital amaurosis; LCA14
Definition Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LRAT gene.
Disease Hierarchy
DISMGH8F: Leber congenital amaurosis
DISOJMRP: Leber congenital amaurosis 14
Disease Identifiers
MONDO ID
MONDO_0013231
MESH ID
C567636
UMLS CUI
C2750063
OMIM ID
613341
MedGen ID
442375

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
LRAT OTB7CJKY Definitive Autosomal recessive [1]
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References

1 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.