Myopathy, myofibrillar, 5

Preferred Label : Myopathy, myofibrillar, 5;

Symbol : MFM5;

CISMeF acronym : MFM5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myopathy, myofibrillar, filamin C-related; Filaminopathy, autosomal dominant;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the filamin C gene (FLNC, 102565.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #609524;

Details

Origin ID

609524;

UMLS CUI

C1836050;

Currated CISMeF NLP mapping
- Filaminopathy, autosomal dominant [MeSH concept]
- Muscle filaminopathy [ORDO Disease]
- Muscle filaminopathy (disorder) [SNOMED CT concept]
- filaminopathy, autosomal dominant [MeSH Supplementary Concept]
- myofibrillar myopathy 5 [DO Concept]
DO Cross reference
- myofibrillar myopathy 5 [DO Concept]
Genes related to phenotype
- Filamin C [OMIM gene]
HPO term(s)
- Abnormal muscle fibers with amorphous, granular, or hyaline deposits [HPO term]
- Abnormal peripheral nervous system morphology [HPO term]
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Difficulty climbing stairs [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Muscle fiber cytoplasmatic inclusion bodies [HPO term]
- Muscle fiber splitting [HPO term]
- Myofibrillar myopathy [HPO term]
- Proximal muscle weakness [HPO term]
- Respiratory insufficiency [HPO term]
- Slowly progressive [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Muscle filaminopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Filaminopathy, autosomal dominant [MeSH concept]
- Muscle filaminopathy [ORDO Disease]
- filaminopathy, autosomal dominant [MeSH Supplementary Concept]
- myofibrillar myopathy 5 [DO Concept]

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