RMD
MCID: RPP002
MIFTS: 41

Rippling Muscle Disease (RMD) malady

Neuronal diseases category

Summaries for Rippling Muscle Disease

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46OMIM, 32MalaCards
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MalaCards: Rippling Muscle Disease, also known as RMD, is related to myopathy and myasthenia gravis. An important gene associated with Rippling Muscle Disease is CAV3 (caveolin 3). The compounds glucose 6-phosphate and gold have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related mouse phenotypes are homeostasis/metabolism and muscle.

Description from OMIM:46 600332,606072

Aliases & Classifications for Rippling Muscle Disease

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Aliases & Descriptions:

rippling muscle disease 42 22 46 44 48 60
rmd 42


External Ids:

MESH via Orphanet35 C535685
ICD10 via Orphanet26 G71.8
UMLS via Orphanet61 C1853698

Related Diseases for Rippling Muscle Disease

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Sources:
17GeneCards, 18GeneDecks
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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/GeneDecks gene sharing:

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy30.4CAV3, TTN, GAA, DYSF
2myasthenia gravis10.5
3rippling muscle disease with myasthenia gravis10.4
4cumulative trauma disorders10.4
5overuse syndrome10.4
6repetitive motion disorders10.4
7repetitive stress injuries10.4
8autosomal recessive disease10.4
9rippling muscle disease, 110.4
10esotropia10.3
11cav3-related rippling muscle disease10.3
12malignant hyperthermia10.1
13breast cancer10.1
14breast disease10.1
15malignant hyperthermia susceptibility10.1
16dilated cardiomyopathy10.0TTN
17centronuclear myopathy10.0TTN
18familial hypertrophic cardiomyopathy10.0TTN
19limb-girdle muscular dystrophy type 1c10.0CAV3, DYSF
20hypertrophic cardiomyopathy10.0TTN, GAA
21limb-girdle muscular dystrophy type 2h10.0TTN, DYSF
22limb-girdle muscular dystrophy type 2e10.0TTN, DYSF
23limb-girdle muscular dystrophy, type 2g10.0DYSF, TTN
24muscular dystrophy-dystroglycanopathy , type c, 510.0DYSF, TTN
25limb-girdle muscular dystrophy type 2f10.0TTN, DYSF
26myositis10.0DYSF, TTN
27duchenne muscular dystrophy10.0CAV3, TTN, GAA
28respiratory failure10.0GAA, TTN
29limb-girdle muscular dystrophy, type 1a10.0CAV3, TTN, DYSF
30limb-girdle muscular dystrophy, type 2b10.0CAV3, DYSF, TTN
31calpainopathy10.0CAV3, TTN, DYSF
32limb-girdle muscular dystrophy10.0DYSF, CAV3, TTN
33congenital heart defect10.0TTN, GAA
34protein s deficiency10.0CAV3, GAA, DYSF
35myopathy congenital10.0TTN, DYSF, GAA
36polymyositis10.0TTN, GAA, DYSF
37neuropathy10.0TTN, CAV3, DYSF
38distal muscular dystrophy10.0TTN, CAV3, GAA, DYSF
39neuromuscular disease10.0DYSF, CAV3, GAA, TTN
40muscular dystrophy10.0TTN, DYSF, CAV3, GAA
41noonan syndrome10.0TTN, GAA, DYSF, CAV3
42hypertrophy of breast10.0DYSF, CAV3, TTN, GAA

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



Diseases related to rippling muscle disease

Clinical Features for Rippling Muscle Disease

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Sources:
46OMIM
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Clinical features from OMIM:

600332,606072

Clinical synopsis from OMIM:

600332

Drugs & Therapeutics for Rippling Muscle Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Rippling Muscle Disease

Drug clinical trials:

Search ClinicalTrials for Rippling Muscle Disease

Search NIH Clinical Center for Rippling Muscle Disease

Search CenterWatch for Rippling Muscle Disease

Genetic Tests for Rippling Muscle Disease

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22GTR
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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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Sources:
32MalaCards
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MalaCards organs/tissues related to Rippling Muscle Disease:

32
Skeletal muscle

Animal Models for Rippling Muscle Disease or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Rippling Muscle Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.6DYSF, PPP1R3A, GAA, TTN, CAV3
2MP:00053697.3TTN, GAA, PPP1R3A, DYSF, CAV3

Publications for Rippling Muscle Disease

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Genetic Variations for Rippling Muscle Disease

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Sources:
62UniProtKB/Swiss-Prot
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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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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Rippling Muscle Disease

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:
44Novoseek, 24HMDB
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Compounds related to Rippling Muscle Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glucose 6-phosphate44 2410.2GAA, PPP1R3A
2gold449.1TTN, GAA
3glycogen44 249.3TTN, GAA, PPP1R3A, CAV3
4creatinine448.0CAV3, DYSF, GAA, TTN

GO Terms for genes affiliated with Rippling Muscle Disease

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Sources:
16Gene Ontology
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Cellular components related to Rippling Muscle Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Z discGO:0300189.2TTN, CAV3
2T-tubuleGO:0303159.1DYSF, CAV3

Biological processes related to Rippling Muscle Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:0075179.5GAA, CAV3
2muscle cell cellular homeostasisGO:0467169.4GAA, CAV3
3plasma membrane repairGO:0017789.4DYSF, CAV3
4cardiac muscle contractionGO:0600488.8TTN, GAA

Products for genes affiliated with Rippling Muscle Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Rippling Muscle Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet