Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5

Preferred Label : Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5;

Symbol : PEOA5;

CISMeF acronym : PEOA5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Progressive external ophthalmoplegia, autosomal dominant 5;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ribonucleotide reductase, M2 B gene (RRM2B, 604712.0006);

Prefixed ID : #613077;

Details

Origin ID

613077;

UMLS CUI

C2751319;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant progressive external ophthalmoplegia [ORDO Disease]
- RRM2B wt Allele [NCIt concept]
- autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 [DO Concept]
- progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 5 [MeSH concept]
Currated CISMeF NLP mapping
- Autosomal dominant progressive external ophthalmoplegia type 5 (disorder) [SNOMED CT concept]
- Progressive external ophthalmoplegia, autosomal dominant, type 5 [ICD-11 More detail]
- progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 5 [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 [DO Concept]
Genes related to phenotype
- Ribonucleotide reductase regulatory tp53 inducible subunit m2b [OMIM gene]
HPO term(s)
- Anxiety [HPO term]
- Autosomal dominant inheritance [HPO term]
- Depression [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Exercise intolerance [HPO term]
- Gait ataxia [HPO term]
- Glaucoma [HPO term]
- Hearing impairment [HPO term]
- Hyporeflexia [HPO term]
- Increased muscle fatiguability [HPO term]
- Multiple mitochondrial DNA deletions [HPO term]
- Myopathy [HPO term]
- Progressive external ophthalmoplegia [HPO term]
- Ptosis [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 5 [ICD-11 More detail]
- progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 5 [MeSH Supplementary Concept]
- progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 5 [MeSH concept]

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