Congenital myopathy 6 with ophthalmoplegia

Preferred Label : Congenital myopathy 6 with ophthalmoplegia;

Symbol : CMYO6;

CISMeF acronym : MYPOP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Inclusion body myopathy 3, autosomal dominant; Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles; IBM3; Myopathy, proximal, with ophthalmoplegia; MYPOP;

Description : Hereditary IBM constitutes a heterogeneous group of disorders histologically characterized by muscle fibers with rimmed vacuoles and inclusions consisting of filaments with a diameter of 15 to 21 nm. Autosomal recessive inheritance has been described in a quadriceps-sparing form of the disorder with onset in early adulthood (IBM2; 600737).;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the myosin, heavy chain 2, adult skeletal muscle gene (MYH2, 160740.0001);

Prefixed ID : #605637;

Details

Origin ID

605637;

UMLS CUI

C1854106;

Automatic exact mappings (from CISMeF team)
- Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome [ORDO Disease]
- Myb related transcription factor, partner of profilin [HGNC gene]
- inclusion body myositis [DO Concept]
- proximal myopathy and ophthalmoplegia [DO Concept]
Currated CISMeF NLP mapping
- inclusion body myopathy 3, autosomal dominant [MeSH concept]
- inclusion body myopathy 3, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- proximal myopathy and ophthalmoplegia [DO Concept]
Genes related to phenotype
- Myosin, heavy chain 2, skeletal muscle, adult [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital contracture [HPO term]
- Distal muscle weakness [HPO term]
- Generalized muscle weakness [HPO term]
- High palate [HPO term]
- Muscle fiber inclusion bodies [HPO term]
- Myopathic facies [HPO term]
- Myopathy [HPO term]
- Neck muscle weakness [HPO term]
- Ophthalmoplegia [HPO term]
- Proximal muscle weakness [HPO term]
- Ptosis [HPO term]
- Scapular winging [HPO term]
- Scoliosis [HPO term]
- Variable expressivity [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Childhood-onset autosomal recessive myopathy with external ophthalmoplegia [ORDO Disease]
- Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- inclusion body myopathy 3, autosomal dominant [MeSH Supplementary Concept]
- inclusion body myopathy 3, autosomal dominant [MeSH concept]

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