Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4

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

Symbol : PEOB4;

CISMeF acronym : PEOB4;

Type : Phenotype, molecular basis known;

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

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the deoxyguanosine kinase gene (DGUOK, 601465.0008);

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

Prefixed ID : #617070;

Details

Origin ID

617070;

UMLS CUI

C4310733;

Automatic exact mappings (from CISMeF team)
- autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 [DO Concept]
Currated CISMeF NLP mapping
- Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency [ORDO Disease]
DO Cross reference
- autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 [DO Concept]
Genes related to phenotype
- Deoxyguanosine kinase [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral cortical atrophy [HPO term]
- Cognitive impairment [HPO term]
- Distal muscle weakness [HPO term]
- Dysphagia [HPO term]
- Dysphonia [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Hyporeflexia [HPO term]
- Increased serum lactate [HPO term]
- Mitochondrial myopathy [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Progressive external ophthalmoplegia [HPO term]
- Proximal muscle weakness [HPO term]
- Ptosis [HPO term]
- Ragged-red muscle fibers [HPO term]
- Sensorineural hearing impairment [HPO term]
- Skeletal muscle atrophy [HPO term]
ORDO concept(s)
- Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency [ORDO Disease]
See also inter- (CISMeF)
- Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency [ORDO Disease]

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