Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3

Preferred Label : Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3;

Symbol : PEOA3;

CISMeF acronym : PEOA3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Progressive external ophthalmoplegia, autosomal dominant 3;

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. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640). PEO caused by mutations in the POLG gene are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (103220) or C10ORF2 genes (Lamantea et al., 2002).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the TWINKLE mtDNA helicase gene (TWNK, 606075.0001);

Laboratory abnormalities : Increased serum lactate;

Prefixed ID : #609286;

Details

Origin ID

609286;

UMLS CUI

C1836439;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant progressive external ophthalmoplegia [ORDO Disease]
- autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 [DO Concept]
Broader ORDO disease(s)
- Mitochondrial DNA-related progressive external ophthalmoplegia [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal dominant progressive external ophthalmoplegia type 3 (disorder) [SNOMED CT concept]
- Progressive external ophthalmoplegia, autosomal dominant, type 3 [ICD-11 More detail]
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 [MeSH concept]
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 [DO Concept]
Genes related to phenotype
- Twinkle mtdna helicase [OMIM gene]
HPO term(s)
- Abnormality of the thyroid gland [HPO term]
- Adult onset [HPO term]
- Areflexia [HPO term]
- Arrhythmia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bradycardia [HPO term]
- Cardiomyopathy [HPO term]
- Cataract [HPO term]
- Cerebral atrophy [HPO term]
- Cytochrome C oxidase-negative muscle fibers [HPO term]
- Dementia [HPO term]
- Depression [HPO term]
- Diabetes mellitus [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Dysphonia [HPO term]
- EMG shows myopathic changes [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Exercise intolerance [HPO term]
- Fatigue [HPO term]
- Gait disturbance [HPO term]
- Global developmental delay [HPO term]
- Hypogonadism [HPO term]
- Hyporeflexia [HPO term]
- Increased serum lactate [HPO term]
- Limb muscle weakness [HPO term]
- Multiple mitochondrial DNA deletions [HPO term]
- Myalgia [HPO term]
- Parkinsonism [HPO term]
- Premature ovarian insufficiency [HPO term]
- Progressive [HPO term]
- Progressive external ophthalmoplegia [HPO term]
- Progressive hearing impairment [HPO term]
- Progressive muscle weakness [HPO term]
- Proximal muscle weakness [HPO term]
- Psychomotor retardation [HPO term]
- Ptosis [HPO term]
- Ragged-red muscle fibers [HPO term]
- Seizure [HPO term]
- Sensory ataxia [HPO term]
- Sensory axonal neuropathy [HPO term]
- Subsarcolemmal accumulations of abnormally shaped mitochondria [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 3 [ICD-11 More detail]
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 [MeSH Supplementary Concept]
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 [MeSH concept]

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