Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1

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

Symbol : PEOA1;

CISMeF acronym : PEOA1;

Type : Phenotype, molecular basis known;

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

Description : Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA 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. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004). PEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes (Lamantea et al., 2002). - Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA Deletions See also PEOA2 (609283), caused by mutation in the ANT1 gene (SLC25A4; 103220) on chromosome 4q34; PEOA3 (609286), caused by mutation in the twinkle gene (C10ORF2; 606075) on chromosome 10q24; PEOA4 (610131), caused by mutation in the POLG2 gene (604983) on chromosome 17q; PEOA5 (613077), caused by mutation in the RRM2B gene (604712) on chromosome 8q23; and PEOA6 (615156), caused by mutation in the DNA2 gene (601810) on chromosome 10q.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the DNA polymerase gamma gene (POLG, 174763.0001);

Laboratory abnormalities : Increased serum lactate; Rhabdomyolysis in response to alcohol;

Prefixed ID : #157640;

Details

Origin ID

157640;

UMLS CUI

C1834846;

Automatic exact mappings (from CISMeF team)
- autosomal dominant progressive external ophthalmoplegia 1 [DO Concept]
Broader ORDO disease(s)
- Mitochondrial DNA-related progressive external ophthalmoplegia [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal dominant progressive external ophthalmoplegia type 1 (disorder) [SNOMED CT concept]
- Progressive external ophthalmoplegia, autosomal dominant, type 1 [ICD-11 More detail]
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 [MeSH Supplementary Concept]
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 [MeSH concept]
DO Cross reference
- autosomal dominant progressive external ophthalmoplegia 1 [DO Concept]
Genes related to phenotype
- Polymerase, dna, gamma [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bradykinesia [HPO term]
- Cataract [HPO term]
- Cytochrome C oxidase-negative muscle fibers [HPO term]
- Depression [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- EMG shows myopathic changes [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Exercise intolerance [HPO term]
- Facial palsy [HPO term]
- Gait ataxia [HPO term]
- Gastroparesis [HPO term]
- Heterogeneous [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Hyporeflexia [HPO term]
- Impaired distal proprioception [HPO term]
- Impaired distal vibration sensation [HPO term]
- Increased serum lactate [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Limb muscle weakness [HPO term]
- Multiple mitochondrial DNA deletions [HPO term]
- Muscle biopsy shows necrotic and atrophic fibers with centralized nuclei [HPO term]
- Muscle fiber necrosis [HPO term]
- Parkinsonism [HPO term]
- Parkinsonism with favorable response to dopaminergic medication [HPO term]
- Pes cavus [HPO term]
- Premature ovarian insufficiency [HPO term]
- Primary amenorrhea [HPO term]
- Progressive [HPO term]
- Progressive external ophthalmoplegia [HPO term]
- Progressive muscle weakness [HPO term]
- Ptosis [HPO term]
- Ragged-red muscle fibers [HPO term]
- Resting tremor [HPO term]
- Rhabdomyolysis [HPO term]
- Rigidity [HPO term]
- Secondary amenorrhea [HPO term]
- Sensorineural hearing impairment [HPO term]
- Sensory axonal neuropathy [HPO term]
- Skeletal muscle atrophy [HPO term]
- Subsarcolemmal accumulations of abnormally shaped mitochondria [HPO term]
- Testicular atrophy [HPO term]
Not associated HPO term(s)
- Lewy bodies [HPO term]
ORDO concept(s)
- Autosomal dominant progressive external ophthalmoplegia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Progressive external ophthalmoplegia, autosomal dominant, type 1 [ICD-11 More detail]
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 [MeSH Supplementary Concept]
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 [MeSH concept]
Validated automatic mappings to NTBT
- Autosomal dominant progressive external ophthalmoplegia [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients