MCID: RPP002
MIFTS: 45

Rippling Muscle Disease malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories

Aliases & Classifications for Rippling Muscle Disease

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 65UMLS, 67UniProtKB/Swiss-Prot, 24GTR, 36MeSH, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Rippling Muscle Disease:

Name: Rippling Muscle Disease 49 10 11 45 23 47 12 51 65 67
Rmd 45 23 67
 
Rippling Muscle Syndrome 23 24
Rippling Muscle Disease 1 65


Classifications:



External Ids:

OMIM49 606072
Disease Ontology10 DOID:0060255
MeSH36 C535685
Orphanet51 97238
ICD10 via Orphanet28 G71.8
MESH via Orphanet37 C535685
UMLS via Orphanet66 C1853698

Summaries for Rippling Muscle Disease

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Genetics Home Reference:23 Rippling muscle disease is a condition in which the muscles are unusually sensitive to movement or pressure (irritable). The muscles near the center of the body (proximal muscles) are most affected, especially the thighs. In most people with this condition, stretching the muscle causes visible ripples to spread across the muscle, lasting 5 to 20 seconds. A bump or other sudden impact on the muscle causes it to bunch up (percussion-induced muscle mounding) or exhibit repetitive tensing (percussion-induced rapid contraction). The rapid contractions can continue for up to 30 seconds and may be painful.

MalaCards based summary: Rippling Muscle Disease, also known as rmd, is related to myasthenia gravis and rippling muscle disease with myasthenia gravis, and has symptoms including autosomal dominant inheritance, emg abnormality and muscle hyperirritability. An important gene associated with Rippling Muscle Disease is CAV3 (Caveolin 3), and among its related pathways is Striated Muscle Contraction. Affiliated tissues include skeletal muscle and breast, and related mouse phenotype muscle.

Disease Ontology:10 A muscle tissue disease characterized by muscles unusually sensitive to movement or pressure; the proximal muscles are most affected, especially the thighs.

OMIM:49 Hereditary rippling muscle disease is an autosomal dominant disorder characterized by mechanically triggered... (606072) more...

UniProtKB/Swiss-Prot:67 Rippling muscle disease: Rare disorder characterized by mechanically triggered contractions of skeletal muscle. In RMD, mechanical stimulation leads to electrically silent muscle contractions that spread to neighboring fibers that cause visible ripples to move over the muscle.

Related Diseases for Rippling Muscle Disease

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Diseases in the Rippling Muscle Disease family:

Rippling Muscle Disease, 1 Cav3-Related Rippling Muscle Disease

Diseases related to Rippling Muscle Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
idRelated DiseaseScoreTop Affiliating Genes
1myasthenia gravis30.9CAV3, TTN
2rippling muscle disease with myasthenia gravis10.6
3cumulative trauma disorders10.5
4overuse syndrome10.5
5repetitive motion disorders10.5
6repetitive stress injuries10.5
7rippling muscle disease, 110.4
8cav3-related rippling muscle disease10.4
9esotropia10.3
10myopathy10.3
11breast cancer10.1
12malignant hyperthermia10.1
13malignant hyperthermia susceptibility10.1
14cardiomyopathy10.1
15becker muscular dystrophy10.0CAV3, TTN
16muscular dystrophy, limb-girdle, type ic10.0CAV3, DYSF
17lmna-related muscle diseases9.9DYSF, TTN
18cardiomyopathy, familial hypertrophic9.9CAV3, TTN
19muscular dystrophy, limb-girdle, type 2h9.9DYSF, TTN
20cardiomyopathy, hypertrophic, 259.9DYSF, TTN
21muscular dystrophy, limb-girdle, type 2f9.9DYSF, TTN
22glycogen storage disease 0, muscle9.9DYSF, TTN
23muscular dystrophy, limb-girdle, type 2e9.9DYSF, TTN
24muscular dystrophy, limb-girdle, type 1a9.8CAV3, DYSF, TTN
25muscular dystrophy, limb-girdle, type 2b9.8CAV3, DYSF, TTN
26acute pericementitis9.7CAV3, DYSF, TTN
27cartilage disease9.7CAV3, DYSF, TTN
28cornelia de lange syndrome9.7CAV3, DYSF, TTN
29muscular dystrophy9.7CAV3, DYSF, TTN
30myotonic disease9.7DYSF, TTN
31myeloid leukemia9.7CAV3, DYSF, TTN
32myopathy of extraocular muscle9.6CAV3, DYSF, TTN
33rippling muscle disease9.3CAV3, DYSF, PPP1R3A, RMD1, TTN

Graphical network of the top 20 diseases related to Rippling Muscle Disease:



Diseases related to rippling muscle disease

Symptoms for Rippling Muscle Disease

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Symptoms by clinical synopsis from OMIM:

606072

Clinical features from OMIM:

606072

HPO human phenotypes related to Rippling Muscle Disease:

(show all 11)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 emg abnormality HP:0003457
3 muscle hyperirritability HP:0003559
4 exercise-induced muscle cramps HP:0003710
5 skeletal muscle hypertrophy HP:0003712
6 muscle mounding HP:0003719
7 exercise-induced myalgia HP:0003738
8 percussion-induced rapid rolling muscle contractions (pirc) HP:0003760
9 exercise-induced muscle stiffness HP:0008967
10 elevated serum creatine phosphokinase HP:0003236
11 adult onset HP:0003581

Drugs & Therapeutics for Rippling Muscle Disease

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Rippling Muscle Disease

Genetic Tests for Rippling Muscle Disease

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Genetic tests related to Rippling Muscle Disease:

id Genetic test Affiliating Genes
1 Rippling Muscle Disease24

Anatomical Context for Rippling Muscle Disease

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MalaCards organs/tissues related to Rippling Muscle Disease:

33
Skeletal muscle, Breast

Animal Models for Rippling Muscle Disease or affiliated genes

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MGI Mouse Phenotypes related to Rippling Muscle Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.4CAV3, DYSF, PPP1R3A, TTN

Publications for Rippling Muscle Disease

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Articles related to Rippling Muscle Disease:

(show all 46)
idTitleAuthorsYear
1
Autoimmune acquired rippling muscle disease and myasthenia gravis. (25534474)
2015
2
Elevated serum aminotransferases secondary to rippling muscle disease. (23798914)
2013
3
A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease. (22976939)
2013
4
Electrically active immune-mediated rippling muscle disease preceding breast cancer. (22549359)
2012
5
Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes. (22245016)
2012
6
Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies. (21295981)
2011
7
Characterization of the in vitro expressed autoimmune rippling muscle disease immunogenic domain of human titin encoded by TTN exons 248- 249. (21741357)
2011
8
Bedside diagnosis of rippling muscle disease. (21082690)
2011
9
Rippling is not always electrically silent in rippling muscle disease. (21404291)
2011
10
Acquired rippling muscle disease in association with myasthenia gravis. (20019236)
2010
11
Immune-mediated rippling muscle disease: another inflammatory myopathy in myasthenia gravis. (20625103)
2010
12
Rippling muscle disease: variable phenotype in a family with five afflicted members. (19697367)
2010
13
Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers. (20229577)
2010
14
Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene. (19773168)
2009
15
Acquired rippling muscle disease associated with mild myasthenia gravis: a case report. (19277764)
2009
16
Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two. (19208478)
2009
17
Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease. (18487559)
2008
18
Thought ripples on muscle waves: recognition of rippling muscle disease. (18671188)
2008
19
A novel in-frame deletion in the CAV3 gene in a Korean patient with rippling muscle disease. (17524427)
2007
20
A novel missense mutation in the caveolin-3 gene in rippling muscle disease. (17405141)
2007
21
Novel homozygous mutation of the caveolin-3 gene in rippling muscle disease with extraocular muscle paresis. (17537631)
2007
22
Identification of skeletal muscle autoantigens by expression library screening using sera from autoimmune rippling muscle disease (ARMD) patients. (16598745)
2006
23
A new missense mutation in caveolin-3 gene causes rippling muscle disease. (16458928)
2006
24
Rippling muscle disease. (16723230)
2006
25
Sporadic rippling muscle disease unmasked by simvastatin. (16688722)
2006
26
Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation. (16247063)
2005
27
Rippling muscle disease may be caused by "silent" action potentials in the tubular system of skeletal muscle fibers. (15742369)
2005
28
Immune-mediated rippling muscle disease. (15668444)
2005
29
Acquired rippling muscle disease with myasthenia gravis. (14694511)
2004
30
Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease. (15314133)
2004
31
Caveolin-3 gene mutation in Japanese with rippling muscle disease. (12807393)
2003
32
Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease. (12839838)
2003
33
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. (12666119)
2003
34
Rippling muscle disease: a review. (12116294)
2002
35
Rippling muscle disease in childhood. (12269726)
2002
36
A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. (11756609)
2001
37
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. (11431690)
2001
38
Severe autosomal recessive rippling muscle disease. (11745958)
2001
39
Rippling muscle disease: evidence for phenotypic and genetic heterogeneity. (11353417)
2001
40
Phenotypic variability in rippling muscle disease. (10636178)
2000
41
Phenotypic variability in rippling muscle disease. (10227634)
1999
42
Physical mapping of the rippling muscle disease locus. (10049580)
1999
43
Rippling muscle disease and intermittent esotropia. (9093967)
1997
44
Intermittent esotropia associated with rippling muscle disease. (8574358)
1995
45
A rippling muscle disease gene is localized to 1q41: evidence for multiple genes. (7936247)
1994
46
Rippling muscle disease. (2705900)
1989

Variations for Rippling Muscle Disease

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UniProtKB/Swiss-Prot genetic disease variations for Rippling Muscle Disease:

67
id Symbol AA change Variation ID SNP ID
1CAV3p.Pro105LeuVAR_001403
2CAV3p.Arg27GlnVAR_011512
3CAV3p.Ala46ThrVAR_011513
4CAV3p.Ala46ValVAR_011514
5CAV3p.Asp28GluVAR_015374
6CAV3p.Leu87ProVAR_016207rs28936685
7CAV3p.Ala93ThrVAR_016208rs28936686
8CAV3p.Ser53GlyVAR_029541

Expression for genes affiliated with Rippling Muscle Disease

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Search GEO for disease gene expression data for Rippling Muscle Disease.

Pathways for genes affiliated with Rippling Muscle Disease

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Pathways related to Rippling Muscle Disease according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.9CAV3, DYSF, TTN

GO Terms for genes affiliated with Rippling Muscle Disease

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Cellular components related to Rippling Muscle Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1T-tubuleGO:00303159.7CAV3, DYSF
2sarcolemmaGO:00423839.5CAV3, DYSF
3Z discGO:00300189.1CAV3, TTN

Biological processes related to Rippling Muscle Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1detection of muscle stretchGO:00359959.4CAV3, TTN
2plasma membrane repairGO:00017789.2CAV3, DYSF

Sources for Rippling Muscle Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet