Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1

Preferred Label : Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1;

Symbol : PEOB1;

CISMeF acronym : PEOB1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Progressive external ophthalmoplegia, autosomal recessive 1;

Description : Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial DNA (mtDNA) deletions in skeletal muscle. The most common clinical features include adult-onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Less common features include mitral valve prolapse, cardiomyopathy, and gastrointestinal dysmotility. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004). Drachman (1975) gave a classification of disorders associated with progressive external ophthalmoplegia, which he termed 'ophthalmoplegia plus' (Drachman, 1968).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the DNA polymerase-gamma gene (POLG, 174763.0002);

Laboratory abnormalities : Increased CSF protein; Increased creatine kinase, mild;

Prefixed ID : #258450;

Details

Origin ID

258450;

UMLS CUI

C4225153;

Automatic exact mappings (from CISMeF team)
- autosomal recessive progressive external ophthalmoplegia 1 [DO Concept]
Broader ORDO disease(s)
- Mitochondrial DNA-related progressive external ophthalmoplegia [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal recessive progressive external ophthalmoplegia [ORDO Disease]
- Progressive external ophthalmoplegia, autosomal recessive [ICD-11 More detail]
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive [MeSH concept]
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive progressive external ophthalmoplegia 1 [DO Concept]
Genes related to phenotype
- Polymerase, dna, gamma [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Bilateral ptosis [HPO term]
- Bradykinesia [HPO term]
- Cardiomyopathy [HPO term]
- Cerebellar atrophy [HPO term]
- Cytochrome C oxidase-negative muscle fibers [HPO term]
- Depression [HPO term]
- Difficulty climbing stairs [HPO term]
- Diplopia [HPO term]
- Distal muscle weakness [HPO term]
- Dysarthria [HPO term]
- Dyschromatopsia [HPO term]
- Dysphagia [HPO term]
- Dysphonia [HPO term]
- Dystonia [HPO term]
- EMG shows myopathic changes [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Emotional lability [HPO term]
- Esotropia [HPO term]
- Exercise intolerance [HPO term]
- Facial palsy [HPO term]
- Gait ataxia [HPO term]
- Generalized amyotrophy [HPO term]
- Hyporeflexia [HPO term]
- Impaired distal proprioception [HPO term]
- Impaired distal vibration sensation [HPO term]
- Increased CSF protein concentration [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Intention tremor [HPO term]
- Limb ataxia [HPO term]
- Middle age onset [HPO term]
- Mildly elevated creatine kinase [HPO term]
- Mitochondrial myopathy [HPO term]
- Mitochondrial myopathy, severe [HPO term]
- Mitral regurgitation [HPO term]
- Mitral valve prolapse [HPO term]
- Multiple mitochondrial DNA deletions [HPO term]
- Muscle biopsy shows necrotic and atrophic fibers with centralized nuclei [HPO term]
- Muscle fiber atrophy [HPO term]
- Muscle fiber necrosis [HPO term]
- Optic atrophy [HPO term]
- Parkinsonism [HPO term]
- Pes cavus [HPO term]
- Positive Romberg sign [HPO term]
- Progressive external ophthalmoplegia [HPO term]
- Proximal muscle weakness [HPO term]
- Ptosis [HPO term]
- Ragged-red muscle fibers [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Rigidity [HPO term]
- Scoliosis [HPO term]
- Secondary amenorrhea [HPO term]
- Sensorineural hearing impairment [HPO term]
- Sensory ataxic neuropathy [HPO term]
- Sensory axonal neuropathy [HPO term]
- Skeletal muscle atrophy [HPO term]
- Steppage gait [HPO term]
- Subsarcolemmal accumulations of abnormally shaped mitochondria [HPO term]
- Truncal ataxia [HPO term]
- Usually autosomal dominant [HPO term]
- Visual impairment [HPO term]
- Weakness of facial musculature [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Autosomal recessive progressive external ophthalmoplegia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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