Myopathy, myofibrillar, 1

Preferred Label : Myopathy, myofibrillar, 1;

Symbol : MFM1;

CISMeF acronym : ARVC7; ARVD7; CDCD3; DRM; IBM1; MFM1; LGMD2R;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CDCD3; Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy; ARVC7; Desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy; Desmin-related myopathy; Arrhythmogenic right ventricular dysplasia, familial, 7; Desminopathy, primary; Myopathy, myofibrillar, desmin-related; Cmd1f and lgmd1d; IBM1; Inclusion body myopathy 1, autosomal dominant; DRM; ARVD7; Cardiomyopathy, dilated, with conduction defect and muscular dystrophy; Arrhythmogenic right ventricular cardiomyopathy 7; Cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d; LGMD2R; Muscular dystrophy, limb-girdle, type 2r;

Description : Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. The morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin (CRYAB; 123590), dystrophin (300377), and myotilin (TTID; 604103). - Genetic Heterogeneity of Myofibrillar Myopathy Other forms of MFM include alpha-B crystallinopathy (608810), caused by mutation in the CRYAB gene; myotilinopathy (609200) and spheroid body myopathy (182920), both caused by mutation in the myotilin gene;;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the desmin gene (DES, 125660.0001);

Prefixed ID : #601419;

Details

Origin ID

601419;

UMLS CUI

C1832370;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive limb-girdle muscular dystrophy type 2R [ORDO Disease]
- GREM1 wt Allele [NCIt concept]
- arrhythmogenic right ventricular dysplasia, familial, 7 [MeSH concept]
- arrhythmogenic right ventricular dysplasia, familial, 7 [MeSH Supplementary Concept]
- gremlin 1, DAN family BMP antagonist [ORDO Gene]
- multicystic dysplastic kidney [MeSH Descriptor]
Currated CISMeF NLP mapping
- Desmin-related myofibrillar myopathy (disorder) [SNOMED CT concept]
- Desminopathy [ORDO Disease]
- desmin related myofibrillar myopathy [Disease (Nov.)]
- myofibrillar myopathy 1 [DO Concept]
- myopathy, myofibrillar, Desmin-Related [MeSH concept]
- myopathy, myofibrillar, Desmin-Related [MeSH Supplementary Concept]
DO Cross reference
- myofibrillar myopathy 1 [DO Concept]
Genes related to phenotype
- Desmin [OMIM gene]
HPO term(s)
- Abnormality of cardiac conduction [HPO term]
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bradycardia [HPO term]
- Bulbar palsy [HPO term]
- Constipation [HPO term]
- Diarrhea [HPO term]
- Dilated cardiomyopathy [HPO term]
- Distal muscle weakness [HPO term]
- EMG shows myopathic changes [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Facial palsy [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hyporeflexia of lower limbs [HPO term]
- Late-onset proximal muscle weakness [HPO term]
- Neck muscle weakness [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Restrictive cardiomyopathy [HPO term]
- Third degree atrioventricular block [HPO term]
- obsolete Restrictive heart failure [HPO term]
ORDO concept(s)
- Desminopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Desmin-related myofibrillar myopathy (disorder) [SNOMED CT concept]
- Desminopathy [ORDO Disease]
- desmin related myofibrillar myopathy [Disease (Nov.)]
- myofibrillar myopathy 1 [DO Concept]
- myopathy, myofibrillar, Desmin-Related [MeSH Supplementary Concept]
- myopathy, myofibrillar, Desmin-Related [MeSH concept]

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