Preferred Label : Progressive external ophthalmoplegia, autosomal recessive;
ICD-11 definition : Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions
is caused by homozygous or compound heterozygous mutation in the nuclear-encoded DNA
polymerase-gamma gene (POLG; 174763) on chromosome 15q25, or by homozygous or compound
heterozygous mutation in the RNASEH1 gene (604123) on chromosome 2p25. Recessive mutation
in the POLG gene can also cause sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
(SANDO; 607459), which shows overlapping features. The most common clinical features
include adult-onset of weakness of the external eye muscles and exercise intolerance.
Autosomal recessive inheritance is usually more severe than dominant.;
Origin ID : 1440469708;
Currated CISMeF NLP mapping
Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions
is caused by homozygous or compound heterozygous mutation in the nuclear-encoded DNA
polymerase-gamma gene (POLG; 174763) on chromosome 15q25, or by homozygous or compound
heterozygous mutation in the RNASEH1 gene (604123) on chromosome 2p25. Recessive mutation
in the POLG gene can also cause sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
(SANDO; 607459), which shows overlapping features. The most common clinical features
include adult-onset of weakness of the external eye muscles and exercise intolerance.
Autosomal recessive inheritance is usually more severe than dominant.
