Myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominant

Preferred Label : Myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominant;

Symbol : MRUPAV;

CISMeF acronym : MDRV;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Vacuolar neuromyopathy;

Inheritance : Autosomal dominant;

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #601846;

Details

Origin ID

601846;

UMLS CUI

C1866139;

Currated CISMeF NLP mapping
- vacuolar neuromyopathy [MeSH concept]
- vacuolar neuromyopathy [MeSH Supplementary Concept]
Genes related to phenotype
- Perilipin 4 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Centrally nucleated skeletal muscle fibers [HPO term]
- Distal muscle weakness [HPO term]
- Dysphagia [HPO term]
- Dysphonia [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Muscle biopsy shows dystrophic changes [HPO term]
- Muscle fiber splitting [HPO term]
- Muscular dystrophy [HPO term]
- Neck flexor weakness [HPO term]
- Pes cavus [HPO term]
- Rimmed vacuoles [HPO term]
- Scapular winging [HPO term]
- Shoulder girdle muscle weakness [HPO term]
- Variable expressivity [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- vacuolar neuromyopathy [MeSH Supplementary Concept]
- vacuolar neuromyopathy [MeSH concept]

Keyword's position in hierarchy(ies) :

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