Myopathy, distal, with rimmed vacuoles

Preferred Label : Myopathy, distal, with rimmed vacuoles;

Symbol : DMRV;

CISMeF acronym : DMRV;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Multisystem proteinopathy 4; MSP4;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sequestome 1 gene (SQSTM1, 601530.0003);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #617158;

Détails

Origin ID

617158;

UMLS CUI

C5399975;

Automatic exact mappings (from CISMeF team)
- Distal myopathy with rimmed vacuoles [ICD-11 More detail]
- GNE myopathy [ORDO Disease]
- GNE myopathy [DO Concept]
- Inclusion body myopathy 2 (disorder) [SNOMED CT concept]
- distal myopathy, nonaka type [MeSH Supplementary Concept]
- inclusion body myositis [DO Concept]
DO Cross reference
- GNE myopathy [DO Concept]
Genes related to phenotype
- Sequestosome 1 [OMIM gene]
HPO term(s)
- Absent Achilles reflex [HPO term]
- Autosomal dominant inheritance [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Facial palsy [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Internally nucleated skeletal muscle fibers [HPO term]
- Rimmed vacuoles [HPO term]
- Scapular winging [HPO term]
- Skeletal muscle atrophy [HPO term]
- Steppage gait [HPO term]
- Z-band streaming [HPO term]
Not associated HPO term(s)
- Babinski sign [HPO term]
ORDO concept(s)
- GNE myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Distal myopathy, Nonaka type [MeSH concept]
- GNE myopathy [ORDO Disease]
- GNE myopathy [MedDRA Preferred Term]
- Hereditary inclusion body myopathy [MedDRA Preferred Term]
- Hereditary inclusion body myopathy [MedDRA LLT]
- Inclusion body myopathy 2 (disorder) [SNOMED CT concept]
- distal myopathy, nonaka type [MeSH Supplementary Concept]
- hereditary inclusion body myopathy [Disease (Nov.)]

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