Rippling muscle disease 2

Preferred Label : Rippling muscle disease 2;

Symbol : RMD2;

CISMeF acronym : RMD; RMD2; LGMD1C;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Rippling muscle disease; RMD; LGMD1C; Muscular dystrophy, limb-girdle, type 1c;

Description : Hereditary rippling muscle disease is an autosomal dominant disorder characterized by mechanically triggered contractions of skeletal muscle. In rippling muscle disease, mechanical stimulation leads to electrically silent muscle contractions that spread to neighboring fibers that cause visible ripples to move over the muscle. RMD is usually inherited as an autosomal dominant trait, but autosomal recessive inheritance has also been reported (Kubisch et al., 2005).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the caveolin 3 gene (CAV3, 601253.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #606072;

Details

Origin ID

606072;

UMLS CUI

C1832560;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant limb-girdle muscular dystrophy type 1C [ORDO Disease]
- Default Mode Network [MeSH Descriptor]
- GDP-4-dehydro-6-deoxy-D-mannose reductase activity [GO term]
- Limb-Girdle Muscular Dystrophy Type 1C [NCIt concept]
- Rippling Muscle Disease 2 [NCIt concept]
- Rippling muscle disease [ICD-11 More detail]
- caveolin 3 [ORDO Gene]
- muscular dystrophy, Limb-Girdle, type 1C [MeSH concept]
- muscular dystrophy, Limb-Girdle, type 1C [MeSH Supplementary Concept]
- regulator of microtubule dynamics 2 [HGNC gene]
- rippling muscle disease 2 [MeSH concept]
Currated CISMeF NLP mapping
- Rippling muscle disease [MedDRA Preferred Term]
- Rippling muscle disease [ORDO Disease]
- Rippling muscle disease (disorder) [SNOMED CT concept]
- rippling muscle disease, 1 [MeSH Supplementary Concept]
DO Cross reference
- rippling muscle disease 2 [DO Concept]
Genes related to phenotype
- Caveolin 3 [OMIM gene]
HPO term(s)
- Abnormal skeletal muscle morphology [HPO term]
- Adolescent onset [HPO term]
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Decreased caveolin-3 expression on muscle biopsy [HPO term]
- EMG abnormality [HPO term]
- EMG: absent muscle activity at rest [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Exercise-induced muscle cramps [HPO term]
- Exercise-induced muscle stiffness [HPO term]
- Exercise-induced myalgia [HPO term]
- Heterogeneous [HPO term]
- Muscle hyperirritability [HPO term]
- Muscle mounding [HPO term]
- Percussion-induced rapid rolling muscle contractions [HPO term]
- Skeletal muscle hypertrophy [HPO term]
ORDO concept(s)
- Rippling muscle disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rippling Muscle Disease 2 [NCIt concept]
- Rippling muscle disease [MedDRA Preferred Term]
- Rippling muscle disease [ORDO Disease]
- Rippling muscle disease (disorder) [SNOMED CT concept]
- rippling muscle disease 2 [DO Concept]
- rippling muscle disease 2 [MeSH concept]
Validated automatic mappings to BTNT
- rippling muscle disease 2 [DO Concept]

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