MCID: RPP006
MIFTS: 42

Rippling Muscle Disease 2

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

Aliases & Classifications for Rippling Muscle Disease 2

MalaCards integrated aliases for Rippling Muscle Disease 2:

Name: Rippling Muscle Disease 2 57 12 75 29 6 73
Rippling Muscle Disease 57 53 25 59 29 13 55 6 15 73
Rmd 57 53 25
Rmd2 57 75
Rippling Muscle Disease; Rmd 57
Rippling Muscle Disease 1 73
Disease, Muscle, Rippling 40
Rippling Muscle Syndrome 25

Characteristics:

Orphanet epidemiological data:

59
rippling muscle disease
Inheritance: Autosomal dominant,Autosomal recessive;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
mean age of onset 22 years (range 5-54)
genetic heterogeneity (see rmd1, )
autosomal recessive inheritance has been reported (see )
allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, )


HPO:

32
rippling muscle disease 2:
Onset and clinical course adult onset
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 606072
Disease Ontology 12 DOID:0060255
Orphanet 59 ORPHA97238
MESH via Orphanet 45 C535685
UMLS via Orphanet 74 C1853698
ICD10 via Orphanet 34 G71.8
MeSH 44 D009135
SNOMED-CT via HPO 69 263681008 274523007

Summaries for Rippling Muscle Disease 2

NIH Rare Diseases : 53 Rippling muscle disease (RMD) is a rare condition that primarily affects the muscles. It belongs to a group of conditions known as caveolinopathies. 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. Treatment is said to be supportive and based on the signs and symptoms present in each person. Rippling muscle disease can be caused by changes (mutations) in the CAV3 gene. Inheritance is usually autosomal dominant, but can be autosomal recessive. In addition to RMD, CAV3 gene mutations can cause features of the other caveolinopathies, even within the same family. The other caveolinopathies are: limb-girdle muscular dystrophy 1C, isolated hyperCKemia, CAV3-related distal myopathy, and hypertrophic cardiomyopathy. There have also been reported cases of an acquired, autoimmune form of RMD that occurs concurrently with myasthenia gravis. In this form, there is no family history of RMD and CAV3 testing is negative.

MalaCards based summary : Rippling Muscle Disease 2, also known as rippling muscle disease, is related to distal muscular dystrophy and rippling muscle disease with myasthenia gravis, and has symptoms including exercise-induced myalgia An important gene associated with Rippling Muscle Disease 2 is CAV3 (Caveolin 3), and among its related pathways/superpathways are Insulin resistance and Smooth Muscle Contraction. Affiliated tissues include skeletal muscle and testes, and related phenotypes are elevated serum creatine phosphokinase and emg abnormality

Disease Ontology : 12 A muscle tissue disease characterized by muscles unusually sensitive to movement or pressure; the proximal muscles are most affected, especially the thighs.

Genetics Home Reference : 25 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 : 57 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). (606072)

UniProtKB/Swiss-Prot : 75 Rippling muscle disease 2: A disorder characterized by mechanically triggered contractions of skeletal muscle. Mechanical stimulation leads to electrically silent muscle contractions that spread to neighboring fibers and cause visible ripples to move over the muscle. RMD2 inheritance is autosomal dominant or autosomal recessive.

Related Diseases for Rippling Muscle Disease 2

Graphical network of the top 20 diseases related to Rippling Muscle Disease 2:



Diseases related to Rippling Muscle Disease 2

Symptoms & Phenotypes for Rippling Muscle Disease 2

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
muscle mounding
muscle hypertrophy
muscle cramps with exercise
muscle pain with exercise
muscle stiffness with exercise
more
Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

606072

Human phenotypes related to Rippling Muscle Disease 2:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 elevated serum creatine phosphokinase 32 HP:0003236
2 emg abnormality 32 HP:0003457
3 muscle hyperirritability 32 HP:0003559
4 exercise-induced muscle cramps 32 HP:0003710
5 skeletal muscle hypertrophy 32 HP:0003712
6 muscle mounding 32 HP:0003719
7 exercise-induced myalgia 32 HP:0003738
8 percussion-induced rapid rolling muscle contractions 32 HP:0003760
9 exercise-induced muscle stiffness 32 HP:0008967

UMLS symptoms related to Rippling Muscle Disease 2:


exercise-induced myalgia

GenomeRNAi Phenotypes related to Rippling Muscle Disease 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between BLM-/- and BLM+/+ GR00255-A-1 8.8 CAMP GSK3B SSUH2

Drugs & Therapeutics for Rippling Muscle Disease 2

Search Clinical Trials , NIH Clinical Center for Rippling Muscle Disease 2

Genetic Tests for Rippling Muscle Disease 2

Genetic tests related to Rippling Muscle Disease 2:

# Genetic test Affiliating Genes
1 Rippling Muscle Disease 29 CAV3
2 Rippling Muscle Disease 2 29

Anatomical Context for Rippling Muscle Disease 2

MalaCards organs/tissues related to Rippling Muscle Disease 2:

41
Skeletal Muscle, Testes

Publications for Rippling Muscle Disease 2

Articles related to Rippling Muscle Disease 2:

(show all 48)
# Title Authors Year
1
Immune-mediated rippling muscle disease and myasthenia gravis. ( 27725122 )
2016
2
Autoimmune acquired rippling muscle disease and myasthenia gravis. ( 25534474 )
2015
3
Elevated serum aminotransferases secondary to rippling muscle disease. ( 23798914 )
2013
4
A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease. ( 22976939 )
2013
5
Electrically active immune-mediated rippling muscle disease preceding breast cancer. ( 22549359 )
2012
6
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
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
Rippling is not always electrically silent in rippling muscle disease. ( 21404291 )
2011
9
Bedside diagnosis of rippling muscle disease. ( 21082690 )
2011
10
Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies. ( 21295981 )
2011
11
Rippling muscle disease: variable phenotype in a family with five afflicted members. ( 19697367 )
2010
12
Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers. ( 20229577 )
2010
13
Immune-mediated rippling muscle disease: another inflammatory myopathy in myasthenia gravis. ( 20625103 )
2010
14
Acquired rippling muscle disease in association with myasthenia gravis. ( 20019236 )
2010
15
Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two. ( 19208478 )
2009
16
Acquired rippling muscle disease associated with mild myasthenia gravis: a case report. ( 19277764 )
2009
17
Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene. ( 19773168 )
2009
18
Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease. ( 18487559 )
2008
19
Thought ripples on muscle waves: recognition of rippling muscle disease. ( 18671188 )
2008
20
A novel in-frame deletion in the CAV3 gene in a Korean patient with rippling muscle disease. ( 17524427 )
2007
21
Novel homozygous mutation of the caveolin-3 gene in rippling muscle disease with extraocular muscle paresis. ( 17537631 )
2007
22
A novel missense mutation in the caveolin-3 gene in rippling muscle disease. ( 17405141 )
2007
23
Sporadic rippling muscle disease unmasked by simvastatin. ( 16688722 )
2006
24
A new missense mutation in caveolin-3 gene causes rippling muscle disease. ( 16458928 )
2006
25
Identification of skeletal muscle autoantigens by expression library screening using sera from autoimmune rippling muscle disease (ARMD) patients. ( 16598745 )
2006
26
Rippling muscle disease. ( 16723230 )
2006
27
Autosomal recessive rippling muscle disease with homozygous CAV3 mutations. ( 15668980 )
2005
28
Immune-mediated rippling muscle disease. ( 15668444 )
2005
29
Rippling muscle disease may be caused by "silent" action potentials in the tubular system of skeletal muscle fibers. ( 15742369 )
2005
30
Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation. ( 16247063 )
2005
31
Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease. ( 15314133 )
2004
32
Acquired rippling muscle disease with myasthenia gravis. ( 14694511 )
2004
33
Caveolin-3 gene mutation in Japanese with rippling muscle disease. ( 12807393 )
2003
34
Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease. ( 12839838 )
2003
35
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. ( 12666119 )
2003
36
Rippling muscle disease in childhood. ( 12269726 )
2002
37
Rippling muscle disease: a review. ( 12116294 )
2002
38
Severe autosomal recessive rippling muscle disease. ( 11745958 )
2001
39
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. ( 11431690 )
2001
40
A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. ( 11756609 )
2001
41
Rippling muscle disease: evidence for phenotypic and genetic heterogeneity. ( 11353417 )
2001
42
Phenotypic variability in rippling muscle disease. ( 10636178 )
2000
43
Phenotypic variability in rippling muscle disease. ( 10227634 )
1999
44
Physical mapping of the rippling muscle disease locus. ( 10049580 )
1999
45
Rippling muscle disease and intermittent esotropia. ( 9093967 )
1997
46
Intermittent esotropia associated with rippling muscle disease. ( 8574358 )
1995
47
A rippling muscle disease gene is localized to 1q41: evidence for multiple genes. ( 7936247 )
1994
48
Rippling muscle disease. ( 2705900 )
1989

Variations for Rippling Muscle Disease 2

UniProtKB/Swiss-Prot genetic disease variations for Rippling Muscle Disease 2:

75
# Symbol AA change Variation ID SNP ID
1 CAV3 p.Pro105Leu VAR_001403 rs116840805
2 CAV3 p.Arg27Gln VAR_011512 rs116840778
3 CAV3 p.Ala46Thr VAR_011513 rs116840789
4 CAV3 p.Ala46Val VAR_011514 rs116840773
5 CAV3 p.Asp28Glu VAR_015374 rs116840782
6 CAV3 p.Leu87Pro VAR_016207 rs28936685
7 CAV3 p.Ala93Thr VAR_016208 rs28936686
8 CAV3 p.Ser53Gly VAR_029541 rs116840794

ClinVar genetic disease variations for Rippling Muscle Disease 2:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 CAV3 NM_033337.2(CAV3): c.314C> T (p.Pro105Leu) single nucleotide variant Pathogenic rs116840805 GRCh37 Chromosome 3, 8787411: 8787411
2 CAV3 NM_033337.2(CAV3): c.314C> T (p.Pro105Leu) single nucleotide variant Pathogenic rs116840805 GRCh38 Chromosome 3, 8745725: 8745725
3 CAV3 NM_033337.2(CAV3): c.84C> A (p.Asp28Glu) single nucleotide variant Pathogenic rs116840782 GRCh37 Chromosome 3, 8775646: 8775646
4 CAV3 NM_033337.2(CAV3): c.84C> A (p.Asp28Glu) single nucleotide variant Pathogenic rs116840782 GRCh38 Chromosome 3, 8733960: 8733960
5 CAV3 NM_033337.2(CAV3): c.136G> A (p.Ala46Thr) single nucleotide variant Pathogenic rs116840789 GRCh37 Chromosome 3, 8787233: 8787233
6 CAV3 NM_033337.2(CAV3): c.136G> A (p.Ala46Thr) single nucleotide variant Pathogenic rs116840789 GRCh38 Chromosome 3, 8745547: 8745547
7 CAV3 NM_033337.2(CAV3): c.137C> T (p.Ala46Val) single nucleotide variant Likely pathogenic rs116840773 GRCh37 Chromosome 3, 8787234: 8787234
8 CAV3 NM_033337.2(CAV3): c.137C> T (p.Ala46Val) single nucleotide variant Likely pathogenic rs116840773 GRCh38 Chromosome 3, 8745548: 8745548
9 CAV3 NM_033337.2(CAV3): c.80G> A (p.Arg27Gln) single nucleotide variant Pathogenic rs116840778 GRCh37 Chromosome 3, 8775642: 8775642
10 CAV3 NM_033337.2(CAV3): c.80G> A (p.Arg27Gln) single nucleotide variant Pathogenic rs116840778 GRCh38 Chromosome 3, 8733956: 8733956
11 CAV3 NM_033337.2(CAV3): c.139G> A (p.Glu47Lys) single nucleotide variant Pathogenic rs116840793 GRCh37 Chromosome 3, 8787236: 8787236
12 CAV3 NM_033337.2(CAV3): c.139G> A (p.Glu47Lys) single nucleotide variant Pathogenic rs116840793 GRCh38 Chromosome 3, 8745550: 8745550

Expression for Rippling Muscle Disease 2

Search GEO for disease gene expression data for Rippling Muscle Disease 2.

Pathways for Rippling Muscle Disease 2

Pathways related to Rippling Muscle Disease 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.19 GSK3B PPP1R3A
2 10.51 CAV3 DYSF
3 10.09 GSK3B PPP1R3A

GO Terms for Rippling Muscle Disease 2

Cellular components related to Rippling Muscle Disease 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 8.96 CAV3 DYSF
2 T-tubule GO:0030315 8.62 CAV3 DYSF

Biological processes related to Rippling Muscle Disease 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.16 CAV3 DYSF
2 glycogen metabolic process GO:0005977 8.96 GSK3B PPP1R3A
3 plasma membrane repair GO:0001778 8.62 CAV3 DYSF

Sources for Rippling Muscle Disease 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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