Details of Disease

General Information of Disease (ID: DIS0THL0)

Disease Name Leber congenital amaurosis 17
Synonyms Leber congenital amaurosis caused by mutation in GDF6; Leber congenital amaurosis type 17; Leber congenital amaurosis 17; GDF6 Leber congenital amaurosis; LCA17
Definition Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene.
Disease Hierarchy
DISMGH8F: Leber congenital amaurosis
DIS0THL0: Leber congenital amaurosis 17
Disease Identifiers
MONDO ID
MONDO_0014145
UMLS CUI
C3715164
OMIM ID
615360
MedGen ID
811616

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
GDF6 OTERXWJU Limited Unknown [1]
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References

1 Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. Hum Mutat. 2008 Aug;29(8):1017-27. doi: 10.1002/humu.20741.