Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3

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

Symbol : PEOB3;

CISMeF acronym : PEOB3;

Type : Phenotype, molecular basis known;

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

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the nuclear-encoded mitochondrial thymidine kinase gene (TK2, 188250.0007);

Laboratory abnormalities : Increased serum creatine kinase, mild; Increased serum lactate, mild;

Prefixed ID : #617069;

Details

Origin ID

617069;

UMLS CUI

C4310734;

Automatic exact mappings (from CISMeF team)
- autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 [DO Concept]
DO Cross reference
- autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 [DO Concept]
Genes related to phenotype
- Thymidine kinase, mitochondrial [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased activity of mitochondrial respiratory chain [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Facial palsy [HPO term]
- Increased serum lactate [HPO term]
- Mitochondrial myopathy [HPO term]
- Progressive external ophthalmoplegia [HPO term]
- Proximal muscle weakness [HPO term]
- Ptosis [HPO term]
- Scapular winging [HPO term]
- Skeletal muscle atrophy [HPO term]
ORDO concept(s)
- Autosomal recessive progressive external ophthalmoplegia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Autosomal recessive progressive external ophthalmoplegia [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients