Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1

Preferred Label : Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1;

Symbol : MMCKR1;

Type : Phenotype, molecular basis known;

Prefixed ID : #620138;

Details

Origin ID

620138;

UMLS CUI

C5774260;

Currated CISMeF NLP mapping
- myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 [DO Concept]
DO Cross reference
- myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 [DO Concept]
Genes related to phenotype
- Muscular lmna-interacting protein [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Centrally nucleated skeletal muscle fibers [HPO term]
- Childhood onset [HPO term]
- Distal upper limb muscle weakness [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Elevated circulating creatinine concentration [HPO term]
- Elevated circulating hepatic transaminase concentration [HPO term]
- Exercise intolerance [HPO term]
- Exercise-induced muscle cramps [HPO term]
- Exercise-induced muscle stiffness [HPO term]
- Exercise-induced myalgia [HPO term]
- Increased circulating lactate dehydrogenase concentration [HPO term]
- Increased endomysial connective tissue [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Infantile onset [HPO term]
- Juvenile onset [HPO term]
- Motor delay [HPO term]
- Muscle fiber necrosis [HPO term]
- Myoglobinuria [HPO term]
- Progressive proximal muscle weakness [HPO term]
- Proximal muscle weakness [HPO term]
- Proximal muscle weakness in lower limbs [HPO term]
- Rhabdomyolysis [HPO term]
- Skeletal muscle atrophy [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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