MCID: RPP002
MIFTS: 47

Rippling Muscle Disease malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Rippling Muscle Disease

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Genetics Home Reference:21 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 rippling muscle syndrome, is related to myopathy and 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). The compounds glucose 6-phosphate and sucrose have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and breast, and related mouse phenotypes are homeostasis/metabolism and muscle.

Disease Ontology:9 A muscle tissue disease characterized by muscles unusually sensitive to movement or pressure; the proximal muscles are most affected, especially the thighs.

OMIM:45 Hereditary rippling muscle disease is an autosomal dominant disorder characterized by mechanically triggered... (606072) more...

Aliases & Classifications for Rippling Muscle Disease

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Rippling Muscle Disease, Aliases & Descriptions:

Name: Rippling Muscle Disease 45 9 10 41 21 43 47 60
Rippling Muscle Syndrome 21 22
 
Rmd 41 21
Rippling Muscle Disease 1 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


External Ids:

OMIM45 606072
Disease Ontology9 DOID:0060255
MeSH33 C535685
Orphanet47 97238
MESH via Orphanet34 C535685
ICD10 via Orphanet26 G71.8
UMLS via Orphanet61 C1853698

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 37)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy29.8TTN, CAV3, DYSF, GAA
2myasthenia gravis10.6
3rippling muscle disease with myasthenia gravis10.6
4cumulative trauma disorders10.4
5overuse syndrome10.4
6repetitive motion disorders10.4
7repetitive stress injuries10.4
8rippling muscle disease, 110.4
9cav3-related rippling muscle disease10.4
10esotropia10.3
11muscular dystrophy, rigid spine, 110.3GAA
12breast cancer10.2
13malignant hyperthermia10.2
14malignant hyperthermia susceptibility10.2
15autosomal dominant limb-girdle muscular dystrophy type 1c10.0DYSF, CAV3
16hypertrophic cardiomyopathy10.0TTN, GAA
17muscular dystrophy, limb-girdle, type 2h10.0DYSF, TTN
18respiratory failure10.0GAA, TTN
19muscular dystrophy, limb-girdle, type 2g10.0DYSF, TTN
20muscular dystrophy, limb-girdle, type 2e10.0DYSF, TTN
21autosomal recessive limb-girdle muscular dystrophy type 2i10.0TTN, DYSF
22congenital heart disease10.0TTN, GAA
23muscular dystrophy, limb-girdle, type 2f9.9DYSF, TTN
24rhabdomyosarcoma9.9CAV3, TTN
25duchenne muscular dystrophy9.9TTN, CAV3, GAA
26myositis9.9DYSF, TTN
27muscular dystrophy, limb-girdle, type 1a9.9TTN, CAV3, DYSF
28muscular dystrophy, limb-girdle, type 2b9.8DYSF, CAV3, TTN
29calpainopathy9.8TTN, CAV3, DYSF
30limb-girdle muscular dystrophy9.8DYSF, CAV3, TTN
31neuropathy9.8TTN, CAV3, DYSF
32myopathy congenital9.7TTN, DYSF, GAA
33polymyositis9.7TTN, DYSF, GAA
34distal muscular dystrophy9.6GAA, DYSF, CAV3, TTN
35neuromuscular disease9.6TTN, CAV3, DYSF, GAA
36muscular dystrophy9.6GAA, DYSF, CAV3, TTN
37noonan syndrome 19.6GAA, DYSF, CAV3, 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 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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Drug clinical trials:

Search ClinicalTrials for Rippling Muscle Disease

Search 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 Disease22

Anatomical Context for Rippling Muscle Disease

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MalaCards organs/tissues related to Rippling Muscle Disease:

31
Skeletal muscle, Breast

Animal Models for Rippling Muscle Disease or affiliated genes

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MGI Mouse Phenotypes related to Rippling Muscle Disease:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.6PPP1R3A, TTN, CAV3, DYSF, GAA
2MP:00053697.3PPP1R3A, TTN, CAV3, DYSF, GAA

Publications for Rippling Muscle Disease

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Articles related to Rippling Muscle Disease:

(show all 47)
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
Autosomal recessive rippling muscle disease with homozygous CAV3 mutations. (15668980)
2005
28
Rippling muscle disease may be caused by "silent" action potentials in the tubular system of skeletal muscle fibers. (15742369)
2005
29
Immune-mediated rippling muscle disease. (15668444)
2005
30
Acquired rippling muscle disease with myasthenia gravis. (14694511)
2004
31
Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease. (15314133)
2004
32
Caveolin-3 gene mutation in Japanese with rippling muscle disease. (12807393)
2003
33
Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease. (12839838)
2003
34
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. (12666119)
2003
35
Rippling muscle disease: a review. (12116294)
2002
36
Rippling muscle disease in childhood. (12269726)
2002
37
A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. (11756609)
2001
38
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. (11431690)
2001
39
Severe autosomal recessive rippling muscle disease. (11745958)
2001
40
Rippling muscle disease: evidence for phenotypic and genetic heterogeneity. (11353417)
2001
41
Phenotypic variability in rippling muscle disease. (10636178)
2000
42
Phenotypic variability in rippling muscle disease. (10227634)
1999
43
Physical mapping of the rippling muscle disease locus. (10049580)
1999
44
Rippling muscle disease and intermittent esotropia. (9093967)
1997
45
Intermittent esotropia associated with rippling muscle disease. (8574358)
1995
46
A rippling muscle disease gene is localized to 1q41: evidence for multiple genes. (7936247)
1994
47
Rippling muscle disease. (2705900)
1989

Variations for Rippling Muscle Disease

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

62
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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Compounds for genes affiliated with Rippling Muscle Disease

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Sources:
43Novoseek, 24HMDB, 12DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1glucose 6-phosphate43 2410.6GAA, PPP1R3A
2sucrose43 24 1211.2GAA, CAV3
3gold439.1TTN, GAA
4lipid439.1GAA, CAV3, PPP1R3A
5glucose439.0GAA, CAV3, PPP1R3A
6glycogen43 249.4GAA, CAV3, TTN, PPP1R3A
7creatinine438.2TTN, CAV3, DYSF, GAA

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:00303159.3DYSF, CAV3
2Z discGO:00300189.2CAV3, TTN
3sarcolemmaGO:00423839.1DYSF, CAV3

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

idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:00075179.5GAA, CAV3
2muscle cell cellular homeostasisGO:00467169.4GAA, CAV3
3plasma membrane repairGO:00017789.4DYSF, CAV3
4cardiac muscle contractionGO:00600488.8GAA, TTN

Products for genes affiliated with Rippling Muscle Disease

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Sources for Rippling Muscle Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet