Myopathy, isolated mitochondrial, autosomal dominant

Preferred Label : Myopathy, isolated mitochondrial, autosomal dominant;

Symbol : IMMD;

CISMeF acronym : IMMD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the coiled-coil-helix-coiled-coil-helix domain-containing protein 10 gene (CHCHD10, 615903.0004);

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

Prefixed ID : #616209;

Details

Origin ID

616209;

UMLS CUI

C4015513;

Currated CISMeF NLP mapping
- Autosomal dominant mitochondrial myopathy with exercise intolerance [ORDO Disease]
- Autosomal dominant mitochondrial myopathy with exercise intolerance (disorder) [SNOMED CT concept]
Genes related to phenotype
- Coiled-coil-helix-coiled-coil-helix domain-containing protein 10 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Exercise intolerance [HPO term]
- Facial palsy [HPO term]
- Increased serum lactate [HPO term]
- Neck flexor weakness [HPO term]
- Proximal muscle weakness in lower limbs [HPO term]
- Short stature [HPO term]
- Slowly progressive [HPO term]
ORDO concept(s)
- Autosomal dominant mitochondrial myopathy with exercise intolerance [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant mitochondrial myopathy with exercise intolerance (disorder) [SNOMED CT concept]

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