Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4

Preferred Label : Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4;

Symbol : PEOA4;

CISMeF acronym : PEOA4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Progressive external ophthalmoplegia, autosomal dominant 4;

Description : Progressive external ophthalmoplegia-4 is an autosomal dominant form of mitochondrial disease that variably affects skeletal muscle, the nervous system, the liver, and the gastrointestinal tract. Age at onset ranges from infancy to adulthood. The phenotype ranges from relatively mild, with adult-onset skeletal muscle weakness and weakness of the external eye muscles, to severe, with a multisystem disorder characterized by delayed psychomotor development, lactic acidosis, constipation, and liver involvement (summary by Young et al., 2011). 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 DNA polymerase gamma-2 gene (POLG2, 604983.0001);

Laboratory abnormalities : Increased serum lactate; Increased serum creatine kinase; Abnormal liver enzymes (in some patients);

Prefixed ID : #610131;

Details

Origin ID

610131;

UMLS CUI

C1864668;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant progressive external ophthalmoplegia [ORDO Disease]
- autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 [DO Concept]
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 [MeSH concept]
Broader ORDO disease(s)
- Mitochondrial DNA-related progressive external ophthalmoplegia [ORDO Disease]
CISMeF manual mappings
- Progressive external ophthalmoplegia, autosomal dominant, type 4 [ICD-11 More detail]
Currated CISMeF NLP mapping
- Autosomal dominant progressive external ophthalmoplegia type 4 (disorder) [SNOMED CT concept]
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 [DO Concept]
Genes related to phenotype
- Polymerase, dna, gamma-2 [OMIM gene]
HPO term(s)
- Abnormality of cardiac conduction [HPO term]
- Abnormality of the liver [HPO term]
- Adult onset [HPO term]
- Arrhythmia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral visual impairment [HPO term]
- Constipation [HPO term]
- Cytochrome C oxidase-negative muscle fibers [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Elevated hepatic transaminase [HPO term]
- Exercise intolerance [HPO term]
- Facial palsy [HPO term]
- Failure to thrive [HPO term]
- Gastroesophageal reflux [HPO term]
- Gastroparesis [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Glucose intolerance [HPO term]
- Hypotonia [HPO term]
- Impaired glucose tolerance [HPO term]
- Increased serum lactate [HPO term]
- Limb muscle weakness [HPO term]
- Multiple mitochondrial DNA deletions [HPO term]
- Myalgia [HPO term]
- Progressive [HPO term]
- Progressive external ophthalmoplegia [HPO term]
- Progressive muscle weakness [HPO term]
- Ptosis [HPO term]
- Seizure [HPO term]
- Variable expressivity [HPO term]
- obsolete Glucose intolerance [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 4 [ICD-11 More detail]
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 [MeSH Supplementary Concept]
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 [MeSH concept]

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