Myopathy, spheroid body

Preferred Label : Myopathy, spheroid body;

Obsolete resource : true;

Moved to : 609200;

Type : Phenotype, molecular basis known;

Description : Spheroid body myopathy is a form of myofibrillar myopathy (MFM). Myofibrillar myopathy refers to a genetically heterogeneous group of muscular disorders characterized by a pathologic morphologic pattern of myofibrillar degradation and abnormal accumulation of proteins involved with the sarcomeric Z disc (Foroud et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the myotilin gene (TTID, 604103.0006);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : 182920;

Details

Origin ID

182920;

UMLS CUI

C1866785;

Automatic exact mappings (from CISMeF team)
- convulsions benign familial neonatal dominant form [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Spheroid body myopathy [ICD-11 More detail]
- Spheroid body myopathy [MeSH concept]
- Spheroid body myopathy [MeSH Supplementary Concept]
- Spheroid body myopathy [ORDO Disease]
- Spheroid body myopathy (disorder) [SNOMED CT concept]
- spheroid body myopathy [DO Concept]
DO Cross reference
- spheroid body myopathy [DO Concept]
HPO term(s)
- Absent Achilles reflex [HPO term]
- Adolescent onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad-based gait [HPO term]
- Distal muscle weakness [HPO term]
- Dysphagia [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Muscle weakness [HPO term]
- Myopathy [HPO term]
- Nasal speech [HPO term]
- Neck flexor weakness [HPO term]
- Onset [HPO term]
- Proximal amyotrophy [HPO term]
- Proximal muscle weakness [HPO term]
- Skeletal muscle atrophy [HPO term]
- Slowly progressive [HPO term]
- Tremor [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Spheroid body myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spheroid body myopathy [MeSH Supplementary Concept]
- Spheroid body myopathy [ORDO Disease]
- Spheroid body myopathy [ICD-11 More detail]
- Spheroid body myopathy (disorder) [SNOMED CT concept]
- spheroid body myopathy [DO Concept]

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