Mitochondrial myopathy with diabetes

Preferred Label : Mitochondrial myopathy with diabetes;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mitochondrial myopathy, lipid type;

Inheritance : Mitochondrial;

Molecular basis : Caused by mutation in the mitochondrial tRNA-glutamic acid gene (MTTE, 590025.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #500002;

Détails

Origin ID

500002;

UMLS CUI

C1839028;

Currated CISMeF NLP mapping
- Myopathy and diabetes mellitus [ORDO Disease]
- Myopathy and diabetes mellitus (disorder) [SNOMED CT concept]
- mitochondrial myopathy with diabetes [MeSH concept]
- mitochondrial myopathy with diabetes [MeSH Supplementary Concept]
HPO term(s)
- Ataxia [HPO term]
- Decreased activity of mitochondrial complex IV [HPO term]
- Dysarthria [HPO term]
- EMG shows myopathic changes [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Facial palsy [HPO term]
- Generalized hypotonia [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Mitochondrial inheritance [HPO term]
- Mitochondrial myopathy [HPO term]
- Motor delay [HPO term]
- Muscle biopsy shows ragged-red fibers with decreased COX activity [HPO term]
- Proximal amyotrophy [HPO term]
- Proximal muscle weakness [HPO term]
- Ragged-red muscle fibers [HPO term]
- Type II diabetes mellitus [HPO term]
- Variable age at onset [HPO term]
- Weakness [HPO term]
- Weakness of orbicularis oculi muscle [HPO term]
ORDO concept(s)
- Myopathy and diabetes mellitus [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Myopathy and diabetes mellitus [ORDO Disease]
- mitochondrial myopathy with diabetes [MeSH Supplementary Concept]
- mitochondrial myopathy with diabetes [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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