Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2

Preferred Label : Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2;

Symbol : PEOA2;

CISMeF acronym : PEOA2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Progressive external ophthalmoplegia, autosomal dominant 2;

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. 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 mutations in the POLG gene are associated with more complicated phenotypes than those forms caused by mutations in the ANT1 or C10ORF2 genes (Lamantea et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the solute carrier family 25 (mitochondrial carrier) member 4 gene (SLC25A4, 103220.0001);

Laboratory abnormalities : Serum lactate is usually normal;

Prefixed ID : #609283;

Details

Origin ID

609283;

UMLS CUI

C1836460;

Automatic exact mappings (from CISMeF team)
- autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [DO Concept]
Broader ORDO disease(s)
- Mitochondrial DNA-related progressive external ophthalmoplegia [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal dominant progressive external ophthalmoplegia type 2 (disorder) [SNOMED CT concept]
- Progressive external ophthalmoplegia, autosomal dominant, type 2 [ICD-11 More detail]
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 [MeSH Supplementary Concept]
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 [MeSH concept]
DO Cross reference
- autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [DO Concept]
Genes related to phenotype
- Solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cytochrome C oxidase-negative muscle fibers [HPO term]
- EMG shows myopathic changes [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Exercise intolerance [HPO term]
- Facial palsy [HPO term]
- Generalized muscle weakness [HPO term]
- Heterogeneous [HPO term]
- Multiple mitochondrial DNA deletions [HPO term]
- Progressive [HPO term]
- Progressive external ophthalmoplegia [HPO term]
- Ptosis [HPO term]
- Ragged-red muscle fibers [HPO term]
- Sensorineural hearing impairment [HPO term]
- Subsarcolemmal accumulations of abnormally shaped mitochondria [HPO term]
Not associated HPO term(s)
- Increased serum lactate [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 2 [ICD-11 More detail]
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 [MeSH Supplementary Concept]
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 [MeSH concept]
Validated automatic mappings to NTBT
- Autosomal dominant progressive external ophthalmoplegia [ORDO Disease]

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