Myopathy, myofibrillar, 3

Preferred Label : Myopathy, myofibrillar, 3;

Symbol : MFM3;

CISMeF acronym : MFM3; LGMD1; LGMD1A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myopathy, myofibrillar, myotilin-related; MYOTILINOPATHY; LGMD1; Muscular dystrophy, limb-girdle, type 1a; LGMD1A; Muscular dystrophy, limb-girdle, type 1; Myopathy, spheroid body;

Description : Myotilinopathy is a form of myofibrillar myopathy. 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.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the titin immunoglobulin domain protein gene (TTID, 604103.0002).;

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #609200;

Details

Origin ID

609200;

UMLS CUI

C3714934;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant limb-girdle muscular dystrophy type 1A [ORDO Disease]
- Distal myotilinopathy [ORDO Disease]
- Muscular dystrophy, limb-girdle, type 1A [MeSH concept]
- Myotilin myopathy [ICD-11 More detail]
- Myotilinopathy [ORDO Disease]
- Spheroid body myopathy [ORDO Disease]
- muscular dystrophy, limb-girdle, type 1A [MeSH Supplementary Concept]
- myotilinopathy [MeSH concept]
- myotilinopathy [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- myofibrillar myopathy 3 [DO Concept]
DO Cross reference
- myofibrillar myopathy 3 [DO Concept]
Genes related to phenotype
- Myotilin [OMIM gene]
HPO term(s)
- Abnormal muscle fibers with amorphous, granular, or hyaline deposits [HPO term]
- Achilles tendon contracture [HPO term]
- Adult onset [HPO term]
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Distal amyotrophy [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Hyporeflexia of lower limbs [HPO term]
- Hyporeflexia/areflexia in lower limbs [HPO term]
- Muscle fiber cytoplasmatic inclusion bodies [HPO term]
- Muscle stiffness [HPO term]
- Muscle stiffness or aching [HPO term]
- Myalgia [HPO term]
- Myofibrillar myopathy [HPO term]
- Polyneuropathy [HPO term]
- Progressive distal muscle weakness [HPO term]
- Proximal muscle involvement may occur [HPO term]
- Proximal muscle weakness [HPO term]
- Slowly progressive [HPO term]
ORDO concept(s)
- Autosomal dominant limb-girdle muscular dystrophy type 1A [ORDO Disease]
- Distal myotilinopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- myofibrillar myopathy 3 [DO Concept]
- myotilin related myofibrillar myopathy [Disease (Nov.)]
- myotilinopathy [MeSH Supplementary Concept]

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