Myopathy, myofibrillar, 2

Preferred Label : Myopathy, myofibrillar, 2;

Symbol : MFM2;

CISMeF acronym : MFM2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myopathy, myofibrillar, with or without cataract and/or cardiomyopathy; Myopathy, myofibrillar, alpha-b crystallin-related; Alpha-b crystallinopathy; Myopathy, desmin-related, associated with mutation in the cryab gene;

Description : Alpha-B crystallin-related myofibrillar myopathy is an autosomal dominant muscular disorder characterized by adult onset of progressive muscle weakness affecting both the proximal and distal muscles and associated with respiratory insufficiency, cardiomyopathy, and cataracts. There is phenotypic variability both within and between families (Fardeau et al., 1978; Selcen and Engel, 2003). A homozygous founder mutation in the CRYAB gene has been identified in Canadian aboriginal infants of Cree origin who have a severe fatal infantile hypertonic form of myofibrillar myopathy; see 613869.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha-B-crystallin gene (CRYAB, 123590.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #608810;

Details

Origin ID

608810;

UMLS CUI

C1837317;

Automatic exact mappings (from CISMeF team)
- Alpha-B crystallin-related late-onset myopathy [ORDO Disease]
- Alpha-B crystallinopathy [MeSH concept]
- Alpha-B crystallinopathy [MeSH Supplementary Concept]
- Alpha-crystallinopathy [ORDO Disease]
- CRYAB wt Allele [NCIt concept]
- Fatal infantile hypertonic myofibrillar myopathy [ORDO Disease]
Currated CISMeF NLP mapping
- myofibrillar myopathy 2 [DO Concept]
DO Cross reference
- myofibrillar myopathy 2 [DO Concept]
Genes related to phenotype
- Crystallin, alpha-b [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autophagic vacuoles [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cataract [HPO term]
- Decreased Achilles reflex [HPO term]
- Distal muscle weakness [HPO term]
- EMG shows myopathic changes [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Foot drop [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Late-onset proximal muscle weakness [HPO term]
- Limb-girdle muscle weakness [HPO term]
- Muscle biopsy shows dystrophic changes [HPO term]
- Muscle fiber splitting [HPO term]
- Muscular dystrophy [HPO term]
- Neck muscle weakness [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Slowly progressive [HPO term]
ORDO concept(s)
- Alpha-B crystallin-related late-onset myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alpha-B crystallinopathy [MeSH Supplementary Concept]
- Alpha-B crystallinopathy [MeSH concept]
- myofibrillar myopathy 2 [DO Concept]

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