MCID: RPP002
MIFTS: 46

Rippling Muscle Disease malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Rippling Muscle Disease

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 65UMLS, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Rippling Muscle Disease:

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

Characteristics:

HPO:

61
rippling muscle disease:
Onset and clinical course: adult onset
Inheritance: autosomal dominant inheritance
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 606072
Disease Ontology10 DOID:0060255
Orphanet51 97238
ICD10 via Orphanet28 G71.8
MESH via Orphanet37 C535685
UMLS via Orphanet66 C1853698
UMLS65 C1853698, C1838254

Summaries for Rippling Muscle Disease

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NIH Rare Diseases:45 Rippling muscle disease is a rare condition that primarily affects the muscles. signs and symptoms of the condition generally begin during late childhood or adolescence, although the age of onset can vary widely. it is characterized by signs of increased muscle irritability, including percussion-induced rapid contractions (repetitive tensing of the muscle), percussion-induced muscle mounding ("bunching up" of the muscle), and/or visible rippling of the muscles. fatigue, cramps, and/or muscle stiffness are common, especially after strenuous activity or exposure to cold temperatures. some affected people may also have hypertrophy (overgrowth) of some muscles and an unusual gait. rippling muscle disease is caused by changes (mutations) in the cav3 gene and is inherited in an autosomal dominant manner. treatment is supportive and based on the signs and symptoms present in each person. last updated: 2/17/2016

MalaCards based summary: Rippling Muscle Disease, also known as rmd, is related to rippling muscle disease with myasthenia gravis and rippling muscle disease, 1, and has symptoms including exercise-induced muscle stiffness, percussion-induced rapid rolling muscle contractions (pirc) and exercise-induced myalgia. An important gene associated with Rippling Muscle Disease is CAV3 (Caveolin 3), and among its related pathways are Insulin Signaling and mTOR Pathway. Affiliated tissues include skeletal muscle, prostate and thyroid.

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.

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.

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.

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

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 48)
idRelated DiseaseScoreTop Affiliating Genes
1rippling muscle disease with myasthenia gravis12.6
2rippling muscle disease, 112.5
3cav3-related rippling muscle disease12.5
4cumulative trauma disorders10.7
5overuse syndrome10.7
6repetitive motion disorders10.7
7repetitive stress injuries10.7
8ataxia10.4
9breast cancer10.3
10retinitis10.3
11neuronitis10.3
12neuroblastoma10.2
13chediak-higashi syndrome10.2
14hepatocellular carcinoma10.2
15spinocerebellar ataxia 710.2
16dubin-johnson syndrome10.2
17meconium ileus10.2
18nasopharyngeal carcinoma10.2
19gingival recession10.2
20lymphoma10.2
21nasopharyngitis10.2
22pasteurellosis10.2
23herpes gestationis10.2
24prostatitis10.2
25urticaria10.2
26neuroendocrine tumor10.2
27dermatitis10.2
28anuria10.2
29gingivitis10.2
30atopic dermatitis10.2
31pancreatitis10.2
32adrenal neuroblastoma10.2
33myocarditis10.2
34periodontitis10.2
35vitreous detachment10.2
36autoimmune myocarditis10.2
37ependymoma10.2
38papular urticaria10.2
39tremor10.2
40endotheliitis10.2
41myopathy, myofibrillar, 39.8CAV3, TTN
42myasthenia gravis9.8CAV3, TTN
43muscular dystrophy, limb-girdle, type 2b9.8CAV3, TTN
44limb-girdle muscular dystrophy9.7CAV3, TTN
45histiocytoma9.7CAV3, TTN
46cartilage disease9.7CAV3, TTN
47cardiomyopathy, familial hypertrophic9.6CAV3, TTN
48rippling muscle disease8.8CAV3, GSK3B, 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 9)
id Description Frequency HPO Source Accession
1 exercise-induced muscle stiffness HP:0008967
2 percussion-induced rapid rolling muscle contractions (pirc) HP:0003760
3 exercise-induced myalgia HP:0003738
4 muscle mounding HP:0003719
5 skeletal muscle hypertrophy HP:0003712
6 exercise-induced muscle cramps HP:0003710
7 muscle hyperirritability HP:0003559
8 emg abnormality HP:0003457
9 elevated serum creatine phosphokinase HP:0003236

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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Anatomical Context for Rippling Muscle Disease

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MalaCards organs/tissues related to Rippling Muscle Disease:

33
Skeletal muscle, Prostate, Thyroid, Liver, Neutrophil, B cells, Testes

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

Publications for Rippling Muscle Disease

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Articles related to Rippling Muscle Disease:

(show all 47)
idTitleAuthorsYear
1
Microcephaly associated with maternal Zika virus infection. (27150580)
2016
2
Status epilepticus associated with pregnancy: A cohort study. (27116537)
2016
3
Expression of CysLTR-1 and CysLTR-2 in adenoid tissues from children with adenoid hypertrophy]. (25760841)
2015
4
EZH2 regulates cofilin activity and colon cancer cell migration by targeting ITGA2 gene. (25549357)
2014
5
ADCK4 "reenergizes" nephrotic syndrome. (24270414)
2013
6
Gastric ischemia after epinephrine injection in a patient with liver cirrhosis. (23372366)
2013
7
Mutual regulation between Raf/MEK/ERK signaling and Y-box-binding protein-1 promotes prostate cancer progression. (23838318)
2013
8
Anti-apoptotic BFL-1 is the major effector in activation-induced human mast cell survival. (22720045)
2012
9
Chest CTs in primary ciliary dyskinesia: not too few, but not too many! (22570095)
2012
10
Alzheimer's risk variants in the clusterin gene are associated with alternative splicing. (22832520)
2011
11
Regulation of cancer stem cell properties by CD9 in human B-acute lymphoblastic leukemia. (21549094)
2011
12
Structural studies of B-type Aurora kinase inhibitors using computational methods. (20139908)
2010
13
Small cell carcinoma of the gall bladder: role of adjuvant chemotherapy. (20063076)
2010
14
Congenital leptin deficiency and thyroid function. (19889232)
2009
15
Solid-pseudopapillary neoplasm: a pancreatic enigma. (19961258)
2009
16
Virilizing ovarian hilus (Leydig) cell tumor with concurrent contralateral hilus cell hyperplasia: a rare diagnosis. (19697637)
2009
17
Transportin regulates major mitotic assembly events: from spindle to nuclear pore assembly. (19641022)
2009
18
Unilateral panuveitis secondary to varicella zoster virus. (19198557)
2008
19
Influence of iNOS silencing by RNA interference on proliferation activity of Tca8113 cell]. (18070432)
2007
20
Antibiotics are not needed during tube thoracostomy for spontaneous pneumothorax: an observational case study. (17101034)
2006
21
Mechanism of transcriptional regulation by Runx2 in osteoblasts]. (16679622)
2006
22
Determinants of the APTT- and ETP-based APC sensitivity tests. (15978106)
2005
23
Oral inflammatory myofibroblastic tumor demonstrating ALK, p53, MDM2, CDK4, pRb, and Ki-67 immunoreactivity in an elderly patient. (15897859)
2005
24
Characterization of human LNX, a novel ligand of Numb protein X that is downregulated in human gliomas. (16002321)
2005
25
NHERF and regulation of the renal sodium-hydrogen exchanger NHE3. (15742180)
2005
26
Malignant mA1llerian mixed tumor (carcinosarcoma) of the fallopian tube: an immunohistochemical study of neoplastic cells. (16218942)
2005
27
Mitochondrial dysfunction and rod-like lesions associated with administration of beta2 adrenoceptor agonist formoterol. (15145339)
2004
28
The immune responsiveness in hepatitis C virus infected patients: effects of interferon-alfa/ribavirin combined treatment on the lymphocyte response with special reference to B cells. (15279548)
2004
29
Follicular mucinosis. (12472360)
2002
30
The SOCS box: a tale of destruction and degradation. (12076535)
2002
31
Persistent decreased plasma cholecystokinin levels in celiac patients under gluten-free diet: respective roles of histological changes and nutrient hydrolysis. (12468110)
2002
32
Fibrodysplasia ossificans progressiva. (11379597)
2001
33
PEAZ-1: a new human prostate neoplastic epithelial cell line. (11433418)
2001
34
Prognostic significance of immunohistochemically localized biomarkers in stage II and stage III breast cancer: a multivariate analysis. (10819372)
2000
35
Abnormal transcripts of FHIT gene in thyroid cancer. (9458330)
1998
36
Detection of MET oncogene/hepatocyte growth factor receptor in lymph node metastases from head and neck squamous cell carcinomas. (9065649)
1997
37
Infantile generalized GM1 gangliosidosis: high incidence in the Maltese Islands. (9323577)
1997
38
Choroid plexus papilloma: detection using color Doppler sonography. (9353486)
1997
39
The role of the microflora infecting the dentin in caries and its complications in the development and spread of acute odontogenic and cross infectious diseases]. (9281156)
1996
40
Serum G-CSF levels in primary myelofibrosis and chronic neutrophilic leukemia as estimated by the highly sensitive chemiluminescence enzyme immunoassay (CLEIA). (8882966)
1996
41
Scutular favus-like tinea cruris et pedis in a patient with AIDS. (8647981)
1996
42
Prenatal sonographic diagnosis of hydranencephaly. (8855587)
1996
43
The epidermal growth factor/cAMP-inducible ectoCa(2+)-ATPase of human hepatoma Li-7A cells is similar to rat liver ectoATPase/hepatocyte cell adhesion molecule (cell-CAM 105). (8387753)
1993
44
Dihydrotestosterone accumulation in genital skin fibroblasts derived from elderly men with prostatic hyperplasia. (1379259)
1992
45
High expression levels of the "erythroid/brain" type glucose transporter (GLUT1) in the basal cells of human eye conjunctiva and oral mucosa reconstituted in culture. (2055270)
1991
46
Early aggressive cemento-ossifying fibroma: a diagnostic and treatment dilemma. (3468459)
1987
47
Noradrenergic sympathetic blockade: lack of effect on memory or retrograde amnesia. (6889534)
1982

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 pathwaysScoreTop Affiliating Genes
19.4GSK3B, PPP1R3A
2
Show member pathways
9.4GSK3B, PPP1R3A
39.4GSK3B, PPP1R3A

GO Terms for genes affiliated with Rippling Muscle Disease

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of nitric-oxide synthase activityGO:00510019.8CAV3, GSK3B
2myotube differentiationGO:00149029.8CAV3, GSK3B
3negative regulation of MAP kinase activityGO:00434079.6CAV3, GSK3B
4myoblast fusionGO:00075209.5CAV3, GSK3B
5muscle contractionGO:00069369.1CAV3, TTN

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