Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6

Preferred Label : Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6;

Symbol : PEOA6;

CISMeF acronym : PEOA6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Progressive external ophthalmoplegia, autosomal dominant 6;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homolog of the yeast DNA replication helicase 2 gene (DNA2, 601810.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #615156;

Details

Origin ID

615156;

UMLS CUI

C3554599;

Automatic exact mappings (from CISMeF team)
- autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 [DO Concept]
Currated CISMeF NLP mapping
- DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome (disorder) [SNOMED CT concept]
- DNA2-related mitochondrial DNA deletion syndrome [ORDO Disease]
DO Cross reference
- autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 [DO Concept]
Genes related to phenotype
- Dna replication helicase/nuclease 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Exercise intolerance [HPO term]
- Exertional dyspnea [HPO term]
- External ophthalmoplegia [HPO term]
- Facial palsy [HPO term]
- Gait disturbance [HPO term]
- Generalized amyotrophy [HPO term]
- Gowers sign [HPO term]
- Limb-girdle muscle weakness [HPO term]
- Muscle spasm [HPO term]
- Myalgia [HPO term]
- Obstructive sleep apnea [HPO term]
- Progressive external ophthalmoplegia [HPO term]
- Ptosis [HPO term]
- Slender build [HPO term]
- Slowly progressive [HPO term]
ORDO concept(s)
- DNA2-related mitochondrial DNA deletion syndrome [ORDO Disease]
See also inter- (CISMeF)
- DNA2 wt Allele [NCIt concept]
- progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 5 [MeSH concept]
- progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 5 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- DNA2-related mitochondrial DNA deletion syndrome [ORDO Disease]

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