RMD2
MCID: RPP006
MIFTS: 45

Rippling Muscle Disease 2 (RMD2)

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

Aliases & Classifications for Rippling Muscle Disease 2

MalaCards integrated aliases for Rippling Muscle Disease 2:

Name: Rippling Muscle Disease 2 58 12 76 30 6 74
Rippling Muscle Disease 58 54 26 60 38 30 13 56 6 74
Rmd 58 54 26
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c 12 60
Limb-Girdle Muscular Dystrophy, Type 1c 30 6
Limb-Girdle Muscular Dystrophy 1c 76 38
Lgmd1c 60 76
Rmd2 58 76
Muscular Dystrophy, Limb-Girdle, Type 1c, Formerly; Lgmd1c, Formerly 58
Limb-Girdle Muscular Dystrophy Due to Caveolin-3 Deficiency 60
Muscular Dystrophy, Limb-Girdle, Type 1c, Formerly 58
Dystrophy, Muscular, Limb-Girdle, Type 1c 41
Muscular Dystrophy, Limb-Girdle, Type 1c 76
Rippling Muscle Disease; Rmd 58
Rippling Muscle Disease, 1 45
Rippling Muscle Disease 1 74
Disease, Muscle, Rippling 41
Rippling Muscle Syndrome 26
Lgmd1c, Formerly 58

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant limb-girdle muscular dystrophy type 1c
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;
rippling muscle disease
Inheritance: Autosomal dominant,Autosomal recessive;

OMIM:

58
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:

33
rippling muscle disease 2:
Onset and clinical course adult onset
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060255
OMIM 58 606072
ICD10 34 G71.0
MESH via Orphanet 46 C535685
ICD10 via Orphanet 35 G71.0 G71.8
UMLS via Orphanet 75 C1832567 C1853698
SNOMED-CT via HPO 70 263681008 274523007

Summaries for Rippling Muscle Disease 2

NIH Rare Diseases : 54 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 isolated hyperckemia and limb-girdle muscular dystrophy, and has symptoms including myalgia, exercise-induced myalgia and muscle cramp. An important gene associated with Rippling Muscle Disease 2 is CAV3 (Caveolin 3), and among its related pathways/superpathways are Endocytosis and Focal adhesion. Affiliated tissues include skeletal muscle, testes and bone, and related phenotypes are emg abnormality and skeletal muscle hypertrophy

Disease Ontology : 12 A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has material basis in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25.

Genetics Home Reference : 26 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 : 58 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 : 76 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

Diseases in the Rippling Muscle Disease 2 family:

Rippling Muscle Disease 1

Diseases related to Rippling Muscle Disease 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 isolated hyperckemia 30.1 CAV3 FKRP
2 limb-girdle muscular dystrophy 29.9 CAV3 DYSF FKRP
3 miyoshi muscular dystrophy 29.6 CAV3 DYSF
4 muscular dystrophy 29.4 CAV3 DYSF FKRP MSTN
5 rippling muscle disease with myasthenia gravis 12.6
6 rippling muscle disease 1 12.5
7 limb-girdle muscular dystrophy type 1c 11.7
8 overuse syndrome 11.5
9 repetitive motion disorders 11.5
10 repetitive stress injuries 11.5
11 cumulative trauma disorders 11.5
12 myasthenia gravis 10.4
13 myasthenia gravis congenital 10.4
14 uruguay faciocardiomusculoskeletal syndrome 10.3
15 enthesopathy 10.3
16 myopathy, distal, tateyama type 10.2
17 myopathy 10.2
18 muscle disorders 10.1
19 monocular esotropia 10.1
20 esotropia 10.1
21 long qt syndrome 9 10.1 CAV3 SSUH2
22 autosomal recessive limb-girdle muscular dystrophy type 2b 10.0 CAV3 DYSF
23 breast cancer 10.0
24 myasthenic syndrome, congenital, 10 10.0
25 hypothyroidism 10.0
26 malignant hyperthermia 10.0
27 malignant hyperthermia susceptibility 10.0
28 long qt syndrome 2 10.0 CAV3 SSUH2
29 lymphoma 9.9
30 autosomal recessive limb-girdle muscular dystrophy type 2d 9.8 DYSF FKRP
31 autosomal recessive limb-girdle muscular dystrophy type 2l 9.8 DYSF FKRP
32 muscular dystrophy-dystroglycanopathy , type b, 5 9.8 CAV3 FKRP
33 autosomal recessive limb-girdle muscular dystrophy type 2a 9.8 DYSF FKRP
34 muscular dystrophy, limb-girdle, autosomal recessive 8 9.8 DYSF FKRP
35 muscular dystrophy, limb-girdle, autosomal recessive 7 9.7 DYSF FKRP
36 muscular dystrophy-dystroglycanopathy , type c, 5 9.7 DYSF FKRP
37 muscular dystrophy, limb-girdle, autosomal recessive 6 9.7 DYSF FKRP
38 myositis 9.6 DYSF MSTN
39 autosomal recessive limb-girdle muscular dystrophy 9.6 CAV3 DYSF FKRP
40 muscular dystrophy, limb-girdle, autosomal recessive 2 9.6 CAV3 DYSF FKRP
41 muscle tissue disease 9.3 CAV3 DYSF FKRP MSTN
42 muscular disease 9.3 CAV3 DYSF FKRP MSTN

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

Human phenotypes related to Rippling Muscle Disease 2:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 emg abnormality 33 HP:0003457
2 skeletal muscle hypertrophy 33 HP:0003712
3 exercise-induced myalgia 33 HP:0003738
4 muscle mounding 33 HP:0003719
5 exercise-induced muscle cramps 33 HP:0003710
6 percussion-induced rapid rolling muscle contractions 33 HP:0003760
7 elevated serum creatine kinase 33 HP:0003236
8 exercise-induced muscle stiffness 33 HP:0008967
9 muscle hyperirritability 33 HP:0003559

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Rippling Muscle Disease 2:


myalgia, exercise-induced myalgia, muscle cramp

MGI Mouse Phenotypes related to Rippling Muscle Disease 2:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 CAV3 DYSF FKRP MSTN

Drugs & Therapeutics for Rippling Muscle Disease 2

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

Cochrane evidence based reviews: rippling muscle disease, 1

Genetic Tests for Rippling Muscle Disease 2

Genetic tests related to Rippling Muscle Disease 2:

# Genetic test Affiliating Genes
1 Rippling Muscle Disease 30 CAV3
2 Limb-Girdle Muscular Dystrophy, Type 1c 30
3 Rippling Muscle Disease 2 30

Anatomical Context for Rippling Muscle Disease 2

MalaCards organs/tissues related to Rippling Muscle Disease 2:

42
Skeletal Muscle, Testes, Bone

Publications for Rippling Muscle Disease 2

Articles related to Rippling Muscle Disease 2:

(show top 50) (show all 64)
# Title Authors Year
1
Teaching Video NeuroImages: Rippling muscle disease with caveolin myopathy. ( 30373930 )
2018
2
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. ( 30055862 )
2018
3
Immune-mediated rippling muscle disease in a patient with treated hypothyroidism. ( 29246623 )
2017
4
Immune-mediated rippling muscle disease and myasthenia gravis. ( 27725122 )
2016
5
Autoimmune acquired rippling muscle disease and myasthenia gravis. ( 25534474 )
2015
6
A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease. ( 22976939 )
2013
7
Elevated serum aminotransferases secondary to rippling muscle disease. ( 23798914 )
2013
8
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
9
Electrically active immune-mediated rippling muscle disease preceding breast cancer. ( 22549359 )
2012
10
Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies. ( 21295981 )
2011
11
Bedside diagnosis of rippling muscle disease. ( 21082690 )
2011
12
Rippling is not always electrically silent in rippling muscle disease. ( 21404291 )
2011
13
Characterization of the in vitro expressed autoimmune rippling muscle disease immunogenic domain of human titin encoded by TTN exons 248-249. ( 21741357 )
2011
14
Immune-mediated rippling muscle disease: another inflammatory myopathy in myasthenia gravis. ( 20625103 )
2010
15
Acquired rippling muscle disease in association with myasthenia gravis. ( 20019236 )
2010
16
Rippling muscle disease: variable phenotype in a family with five afflicted members. ( 19697367 )
2010
17
Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers. ( 20229577 )
2010
18
Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two. ( 19208478 )
2009
19
Acquired rippling muscle disease associated with mild myasthenia gravis: a case report. ( 19277764 )
2009
20
Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene. ( 19773168 )
2009
21
Phenotypic variability in a Spanish family with a Caveolin-3 mutation. ( 18930476 )
2009
22
Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease. ( 18487559 )
2008
23
Thought ripples on muscle waves: recognition of rippling muscle disease. ( 18671188 )
2008
24
A novel missense mutation in the caveolin-3 gene in rippling muscle disease. ( 17405141 )
2007
25
A novel in-frame deletion in the CAV3 gene in a Korean patient with rippling muscle disease. ( 17524427 )
2007
26
Novel homozygous mutation of the caveolin-3 gene in rippling muscle disease with extraocular muscle paresis. ( 17537631 )
2007
27
A new missense mutation in caveolin-3 gene causes rippling muscle disease. ( 16458928 )
2006
28
Identification of skeletal muscle autoantigens by expression library screening using sera from autoimmune rippling muscle disease (ARMD) patients. ( 16598745 )
2006
29
Sporadic rippling muscle disease unmasked by simvastatin. ( 16688722 )
2006
30
Rippling muscle disease. ( 16723230 )
2006
31
Immune-mediated rippling muscle disease. ( 15668444 )
2005
32
Autosomal recessive rippling muscle disease with homozygous CAV3 mutations. ( 15668980 )
2005
33
Rippling muscle disease may be caused by "silent" action potentials in the tubular system of skeletal muscle fibers. ( 15742369 )
2005
34
Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation. ( 16247063 )
2005
35
Molecular and muscle pathology in a series of caveolinopathy patients. ( 15580566 )
2005
36
Acquired rippling muscle disease with myasthenia gravis. ( 14694511 )
2004
37
Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease. ( 15314133 )
2004
38
Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene. ( 12939441 )
2003
39
Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease. ( 12839838 )
2003
40
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. ( 12666119 )
2003
41
Caveolin-3 gene mutation in Japanese with rippling muscle disease. ( 12807393 )
2003
42
Consequences of a novel caveolin-3 mutation in a large German family. ( 12557291 )
2003
43
A CAV3 microdeletion differentially affects skeletal muscle and myocardium. ( 14663034 )
2003
44
Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. ( 11805270 )
2002
45
Rippling muscle disease in childhood. ( 12269726 )
2002
46
Rippling muscle disease: a review. ( 12116294 )
2002
47
Rippling muscle disease: evidence for phenotypic and genetic heterogeneity. ( 11353417 )
2001
48
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. ( 11431690 )
2001
49
Severe autosomal recessive rippling muscle disease. ( 11745958 )
2001
50
A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. ( 11756609 )
2001

Variations for Rippling Muscle Disease 2

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

76 (show all 11)
# 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.Asn33Lys VAR_021016 rs1008642
9 CAV3 p.Val44Glu VAR_021017 rs116840788
10 CAV3 p.Thr64Pro VAR_021018 rs199476332
11 CAV3 p.Ser53Gly VAR_029541 rs116840794

ClinVar genetic disease variations for Rippling Muscle Disease 2:

6 (show all 34)
# 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.189_197delCACCTTCAC (p.Thr64_Thr66del) deletion Pathogenic rs199476331 GRCh38 Chromosome 3, 8745600: 8745608
4 CAV3 NM_033337.2(CAV3): c.189_197delCACCTTCAC (p.Thr64_Thr66del) deletion Pathogenic rs199476331 GRCh37 Chromosome 3, 8787286: 8787294
5 CAV3 NM_033337.2(CAV3): c.166G> A (p.Gly56Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs72546667 GRCh37 Chromosome 3, 8787263: 8787263
6 CAV3 NM_033337.2(CAV3): c.166G> A (p.Gly56Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs72546667 GRCh38 Chromosome 3, 8745577: 8745577
7 CAV3 NM_033337.2(CAV3): c.216C> G (p.Cys72Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs116840776 GRCh37 Chromosome 3, 8787313: 8787313
8 CAV3 NM_033337.2(CAV3): c.216C> G (p.Cys72Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs116840776 GRCh38 Chromosome 3, 8745627: 8745627
9 CAV3 NM_033337.2(CAV3): c.84C> A (p.Asp28Glu) single nucleotide variant Pathogenic rs116840782 GRCh37 Chromosome 3, 8775646: 8775646
10 CAV3 NM_033337.2(CAV3): c.84C> A (p.Asp28Glu) single nucleotide variant Pathogenic rs116840782 GRCh38 Chromosome 3, 8733960: 8733960
11 CAV3 NM_033337.2(CAV3): c.136G> A (p.Ala46Thr) single nucleotide variant Pathogenic rs116840789 GRCh37 Chromosome 3, 8787233: 8787233
12 CAV3 NM_033337.2(CAV3): c.136G> A (p.Ala46Thr) single nucleotide variant Pathogenic rs116840789 GRCh38 Chromosome 3, 8745547: 8745547
13 CAV3 NM_033337.2(CAV3): c.137C> T (p.Ala46Val) single nucleotide variant Likely pathogenic rs116840773 GRCh37 Chromosome 3, 8787234: 8787234
14 CAV3 NM_033337.2(CAV3): c.137C> T (p.Ala46Val) single nucleotide variant Likely pathogenic rs116840773 GRCh38 Chromosome 3, 8745548: 8745548
15 CAV3; SSUH2 NM_033337.2(CAV3): c.80G> A (p.Arg27Gln) single nucleotide variant Pathogenic rs116840778 GRCh37 Chromosome 3, 8775642: 8775642
16 CAV3; SSUH2 NM_033337.2(CAV3): c.80G> A (p.Arg27Gln) single nucleotide variant Pathogenic rs116840778 GRCh38 Chromosome 3, 8733956: 8733956
17 CAV3 NM_033337.2(CAV3): c.260T> C (p.Leu87Pro) single nucleotide variant Uncertain significance rs28936685 GRCh37 Chromosome 3, 8787357: 8787357
18 CAV3 NM_033337.2(CAV3): c.260T> C (p.Leu87Pro) single nucleotide variant Uncertain significance rs28936685 GRCh38 Chromosome 3, 8745671: 8745671
19 CAV3 NM_033337.2(CAV3): c.290_292delTCT (p.Phe97del) deletion Uncertain significance rs199476335 GRCh37 Chromosome 3, 8787387: 8787389
20 CAV3 NM_033337.2(CAV3): c.290_292delTCT (p.Phe97del) deletion Uncertain significance rs199476335 GRCh38 Chromosome 3, 8745701: 8745703
21 CAV3 NM_033337.2(CAV3): c.139G> A (p.Glu47Lys) single nucleotide variant Pathogenic rs116840793 GRCh37 Chromosome 3, 8787236: 8787236
22 CAV3 NM_033337.2(CAV3): c.139G> A (p.Glu47Lys) single nucleotide variant Pathogenic rs116840793 GRCh38 Chromosome 3, 8745550: 8745550
23 CAV3 NM_033337.2(CAV3): c.99C> T (p.Asn33=) single nucleotide variant Benign/Likely benign rs1008642 GRCh37 Chromosome 3, 8775661: 8775661
24 CAV3 NM_033337.2(CAV3): c.99C> T (p.Asn33=) single nucleotide variant Benign/Likely benign rs1008642 GRCh38 Chromosome 3, 8733975: 8733975
25 CAV3 NM_033337.2(CAV3): c.171G> A (p.Val57=) single nucleotide variant Benign/Likely benign rs61147808 GRCh37 Chromosome 3, 8787268: 8787268
26 CAV3 NM_033337.2(CAV3): c.171G> A (p.Val57=) single nucleotide variant Benign/Likely benign rs61147808 GRCh38 Chromosome 3, 8745582: 8745582
27 CAV3 NM_033337.2(CAV3): c.27C> T (p.Leu9=) single nucleotide variant Benign/Likely benign rs1974763 GRCh37 Chromosome 3, 8775589: 8775589
28 CAV3 NM_033337.2(CAV3): c.27C> T (p.Leu9=) single nucleotide variant Benign/Likely benign rs1974763 GRCh38 Chromosome 3, 8733903: 8733903
29 CAV3 NM_033337.2(CAV3): c.123T> C (p.Phe41=) single nucleotide variant Benign/Likely benign rs13087941 GRCh37 Chromosome 3, 8787220: 8787220
30 CAV3 NM_033337.2(CAV3): c.123T> C (p.Phe41=) single nucleotide variant Benign/Likely benign rs13087941 GRCh38 Chromosome 3, 8745534: 8745534
31 CAV3 NM_033337.2(CAV3): c.100G> A (p.Glu34Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs199476325 GRCh37 Chromosome 3, 8775662: 8775662
32 CAV3 NM_033337.2(CAV3): c.100G> A (p.Glu34Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs199476325 GRCh38 Chromosome 3, 8733976: 8733976
33 CAV3 NM_033337.2(CAV3): c.400G> A (p.Ala134Thr) single nucleotide variant Uncertain significance rs773309037 GRCh37 Chromosome 3, 8787497: 8787497
34 CAV3 NM_033337.2(CAV3): c.400G> A (p.Ala134Thr) single nucleotide variant Uncertain significance rs773309037 GRCh38 Chromosome 3, 8745811: 8745811

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 KEGG:

38
# Name Kegg Source Accession
1 Endocytosis hsa04144
2 Focal adhesion hsa04510

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

# Super pathways Score Top Affiliating Genes
1 10.18 CAV3 DYSF

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 T-tubule GO:0030315 9.16 CAV3 DYSF
2 sarcolemma GO:0042383 8.8 CAV3 DYSF FKRP
3 dystrophin-associated glycoprotein complex GO:0016010 8.65 CAV3

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 9.4 CAV3 DYSF
2 muscle organ development GO:0007517 9.37 CAV3 MSTN
3 skeletal muscle tissue regeneration GO:0043403 9.32 DYSF MSTN
4 muscle cell cellular homeostasis GO:0046716 9.26 CAV3 MSTN
5 regulation of calcium ion import GO:0090279 9.16 CAV3 DYSF
6 plasma membrane repair GO:0001778 8.96 CAV3 DYSF
7 T-tubule organization GO:0033292 8.62 CAV3 DYSF

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

# Name GO ID Score Top Affiliating Genes
1 alpha-tubulin binding GO:0043014 8.62 CAV3 DYSF

Sources for Rippling Muscle Disease 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....