Details of Disease

General Information of Disease (ID: DISU3ETB)

Disease Name Optic atrophy 11
Synonyms optic atrophy 11; optic atrophy type 11; autosomal recessive isolated optic atrophy caused by mutation in YME1L1; OPA11; YME1L1 autosomal recessive isolated optic atrophy
Definition Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene.
Disease Hierarchy
DISCV4E4: Hereditary optic atrophy
DISU3ETB: Optic atrophy 11
Disease Identifiers
MONDO ID
MONDO_0015011
UMLS CUI
C4310628
OMIM ID
617302
MedGen ID
934595

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
YME1L1 OT54OJQF Limited Unknown [1]
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References

1 Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation. Elife. 2016 Aug 6;5:e16078. doi: 10.7554/eLife.16078.