Details of Disease

General Information of Disease (ID: DIS1DL5R)

Disease Name Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Synonyms
progressive external ophthalmoplegia, autosomal recessive 2; PEOB2; RNASEH1 progressive external ophthalmoplegia with mitochondrial DNA deletions; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 2; progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RNASEH1; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Definition Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene.
Disease Hierarchy
DISUXRUM: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
DISZOPFU: Progressive external ophthalmoplegia with mitochondrial DNA deletions
DIS1DL5R: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Disease Identifiers
MONDO ID
MONDO_0014656
UMLS CUI
C4225312
OMIM ID
616479
MedGen ID
901897

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
RNASEH1 OTT7L25X Strong Autosomal recessive [1]
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References

1 Failure to produce mitochondrial DNA results in embryonic lethality in Rnaseh1 null mice. Mol Cell. 2003 Mar;11(3):807-15. doi: 10.1016/s1097-2765(03)00088-1.