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Disease Browser
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Muscular Diseases (D009135)
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Rippling muscle disease, 1 (C535686)

       Child Nodes:



 Sister Nodes: 
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..expandAnal Sphincter Myopathy, Internal (C566287)
..expandAplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..expandArthrogryposis (D001176) Child55
..expandCamptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974)
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..expandChanarin-Dorfman Syndrome (C536560)
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..expandContracture (D003286) Child41
..expandCraniomandibular Disorders (D017271) Child4
..expandDimauro disease (C536176)
..expandEHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 (OMIM:614557)
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..expandMarinesco-Sjogren-like syndrome (MSLS) (C535913)
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..expandMitochondrial Myopathies (D017240) Child33  LSDB C:22 L: 00400;
..expandMuscle Cramp (D009120) Child3
..expandMUSCLE HYPERTROPHY (OMIM:614160)
..expandMuscle Neoplasms (D019042)
..expandMuscle Rigidity (D009127) Child3
..expandMuscle Spasticity (D009128) Child17
..expandMuscle Weakness (D018908) Child5  LSDB C:2
..expandMuscular Disorders, Atrophic (D020966) Child120  LSDB C:1
..expandMuscular Hypoplasia, Congenital Universal, of Krabbe (C563553)
..expandMusculoskeletal Pain (D059352) Child2
..expandMyalgia (D063806)
..expandMyofascial Pain Syndromes (D009209) Child1
..expandMyopathic carnitine deficiency (C536100)
..expandMyopathies, Structural, Congenital (D020914) Child34
..expandMyopathy due to Malate-Aspartate Shuttle Defect (C564973)
..expandMYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY (OMIM:615511)
..expandMyopathy with Giant Abnormal Mitochondria (C564971)
..expandMyopathy with Lactic Acidosis, Hereditary (C564972)  LSDB  L: 00476;
..expandMyopathy, Cataract, Hypogonadism Syndrome (C563578)
..expandMyopathy, congenital nonprogressive with Moebius and Robin sequences (C536102)
..expandMyopathy, Congenital, With Excess Of Muscle Spindles (C566896)
..expandMyopathy, Early-Onset, with Fatal Cardiomyopathy (C567129)
..expandMyopathy, Granulovacuolar Lobular, with Electrical Myotonia (C564974)
..expandMyopathy, Hyaline Body, Autosomal Recessive (C564970)
..expandMyopathy, Myosin Storage (C564253)
..expandMyopathy, Reducing Body, X-Linked, Childhood-Onset (C567468)
..expandMyopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469)
..expandMyopathy, X-Linked, with Excessive Autophagy (C564093)
..expandMyositis (D009220) Child16
..expandMyostatin-related muscle hypertrophy (C536106)
..expandMyotonic Disorders (D020967) Child10
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..expandPectoralis Muscle, Absence of (C566793)
..expandPERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS (OMIM:614369)
..expandPolymyalgia Rheumatica (D011111)
..expandProximal Myopathy with Focal Depletion of Mitochondria (C563453)
..expandRhabdomyolysis (D012206) Child6  LSDB C:2
..expandRippling muscle disease, 1 (C535686)
..expandSecretory Diarrhea, Myopathy, and Deafness (C564382)
..expandSingleton Merten syndrome (C537343)
..expandSystemic carnitine deficiency (C536778)  LSDB  L: 00473;
..expandTel Hashomer camptodactyly syndrome (C536953)
..expandTendinopathy (D052256) Child5
..expandTreft Sanborn Carey syndrome (C536544)
..expandUruguay Faciocardiomusculoskeletal Syndrome (C564544)
..expandVacuolar myopathy (C536522)
..expandVLCAD deficiency (C536353)  LSDB  L: 00436;
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:10874
Name:Rippling muscle disease, 1
Definition:
Alternative IDs:DO:DOID:0060255|OMIM:600332|OMIM:606072
ParentIDs:MESH:D009135
TreeNumbers:C05.651/C535686 |C10.668.491/C535686
Synonyms:LGMD1C, FORMERLY |MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C, FORMERLY |Rippling muscle disease |Rippling Muscle Disease 1 |Rippling Muscle Disease 2 |RMD |RMD1 |RMD2
Slim Mappings:Musculoskeletal disease|Nervous system disease
Reference: MedGen: C535686
MeSH: C535686
OMIM: 606072;
MSeqDR LSDB:  
Genes: CAV3; RMD1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003581Adult onsetHP:0040282
3 HP:0003236Elevated serum creatine phosphokinase
4 HP:0003457EMG abnormality
5 HP:0003710Exercise-induced muscle cramps
6 HP:0008967Exercise-induced muscle stiffness
7 HP:0003738Exercise-induced myalgia
8 HP:0001425Heterogeneous
9 HP:0003559Muscle hyperirritability
10 HP:0003719Muscle mounding
11 HP:0003760Percussion-induced rapid rolling muscle contractions
12 HP:0003712Skeletal muscle hypertrophy
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_033337.3(CAV3):c.65T>C (p.Ile22Thr)859CAV3Uncertain significancers763666060RCV001197876|RCV001300267; NMONDO:MONDO:0019947,MedGen:C1832560,OMIM:606072, Orphanet:265|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976,OMIM:PS192500387756278775627TC3:g.8775627T>C-
NM_033337.3(CAV3):c.84C>A (p.Asp28Glu)859CAV3Pathogenicrs116840782RCV000008770|RCV000024386; NMONDO:MONDO:0019947,MedGen:C1832560,OMIM:606072, Orphanet:265|MedGen:CN517202387756468775646CA3:g.8775646C>AClinGen:CA119425,Leiden Muscular Dystrophy (CAV3):CAV3_00010,UniProtKB:P56539#VAR_015374,OMIM:601253.0008CN517202 not provided;
NM_033337.3(CAV3):c.100G>A (p.Glu34Lys)859CAV3Conflicting interpretations of pathogenicityrs199476325RCV000024415|RCV000234023|RCV000560643|RCV000770194; NMedGen:CN517202|MONDO:MONDO:0019947,MedGen:C1832560,OMIM:606072, Orphanet:265|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848387756628775662GA3:g.8775662G>AClinGen:CA215184,Leiden Muscular Dystrophy (CAV3):CAV3_00040C1832567 607801 Limb-girdle muscular dystrophy, type 1C;
NM_033337.3(CAV3):c.136G>A (p.Ala46Thr)859CAV3Pathogenicrs116840789RCV000008772|RCV000008774|RCV000024382|RCV001384920; NMONDO:MONDO:0019947,MedGen:C1832560,OMIM:606072, Orphanet:265|Human Phenotype Ontology:HP:0002147,Human Phenotype Ontology:HP:0002906,Human Phenotype Ontology:HP:0003078,Human Phenotype Ontology:HP:0003236,Human Phenotype Ontology:HP:0003525,Human Phenot387872338787233GA3:g.8787233G>AClinGen:CA119428,Leiden Muscular Dystrophy (CAV3):CAV3_00005,UniProtKB:P56539#VAR_011513,OMIM:601253.0005C0241005 123320 Elevated serum creatine phosphokinase;
NM_033337.3(CAV3):c.137C>T (p.Ala46Val)859CAV3Likely pathogenicrs116840773RCV000008775|RCV000024383; NMONDO:MONDO:0019947,MedGen:C1832560,OMIM:606072, Orphanet:265|MedGen:CN517202387872348787234CT3:g.8787234C>TClinGen:CA119431,Leiden Muscular Dystrophy (CAV3):CAV3_00006,UniProtKB:P56539#VAR_011514,OMIM:601253.0006C3280443 614321 Distal myopathy, Tateyama type;
NM_033337.3(CAV3):c.139G>A (p.Glu47Lys)859CAV3Uncertain significancers116840793RCV000008787|RCV000024416; NMONDO:MONDO:0019947,MedGen:C1832560,OMIM:606072, Orphanet:265|MedGen:CN517202387872368787236GA3:g.8787236G>AClinGen:CA119449,Leiden Muscular Dystrophy (CAV3):CAV3_00041,OMIM:601253.0015CN517202 not provided;
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)859CAV3Benign/Likely benignrs72546667RCV000008768|RCV000039799|RCV000171805|RCV000119393|RCV000362621|RCV000249765|RCV000987086|RCV001082614|RCV001150159|RCV001171080; NMONDO:MONDO:0019947,MedGen:C1832560,OMIM:606072, Orphanet:265|MedGen:CN169374|Human Phenotype Ontology:HP:0006785,Human Phenotype Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353, Orphanet:263|MedGen:CN517202|MedGen:CN239426|MedGen:CN230736|MONDO:M387872638787263GA3:g.8787263G>AClinGen:CA119422,UniProtKB:P56539#VAR_029542,OMIM:601253.0003CN230736 Cardiovascular phenotype;
NM_033337.3(CAV3):c.189_197del (p.Thr64_Thr66del)859CAV3Pathogenic/Likely pathogenicrs199476331RCV000008767|RCV000024380; NMONDO:MONDO:0019947,MedGen:C1832560,OMIM:606072, Orphanet:265|MedGen:CN517202387872868787294ACACCACCTTANC_000003.11:g.8787286_8787294delClinGen:CA215140,Leiden Muscular Dystrophy (CAV3):CAV3_00002,OMIM:601253.0002CN517202 not provided;
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)859CAV3Conflicting interpretations of pathogenicityrs116840776RCV000008769|RCV000024381|RCV000150236|RCV000171752|RCV000249612|RCV000477819|RCV000769171|RCV000987087|RCV001084478|RCV001144018; NMONDO:MONDO:0019947,MedGen:C1832560,OMIM:606072, Orphanet:265|MedGen:CN517202|MedGen:CN169374|Human Phenotype Ontology:HP:0006785,Human Phenotype Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353, Orphanet:263|MedGen:CN230736|MONDO:MONDO:0013686,Med387873138787313CG3:g.8787313C>GClinGen:CA175393,Leiden Muscular Dystrophy (CAV3):CAV3_00004,UniProtKB:P56539#VAR_010743,OMIM:601253.0004CN230736 Cardiovascular phenotype;
NM_033337.3(CAV3):c.260T>C (p.Leu87Pro)859CAV3Uncertain significancers28936685RCV000008779|RCV000024387|RCV000458893|RCV001787372; NMONDO:MONDO:0019947,MedGen:C1832560,OMIM:606072, Orphanet:265|MedGen:CN517202|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|EFO:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120387873578787357TC3:g.8787357T>CClinGen:CA119437,Leiden Muscular Dystrophy (CAV3):CAV3_00011,UniProtKB:P56539#VAR_016207,OMIM:601253.0009C0023976 Long QT syndrome;
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr)859CAV3Conflicting interpretations of pathogenicityrs28936686RCV000008780|RCV000024388|RCV000234612|RCV000622234|RCV000826098; NMedGen:C4016724|MedGen:CN517202|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736|MONDO:MONDO:0019947,MedGen:C1832560,OMIM:606072, Orphanet:265387873748787374GA3:g.8787374G>AClinGen:CA119440,Leiden Muscular Dystrophy (CAV3):CAV3_00012,UniProtKB:P56539#VAR_016208,OMIM:601253.0010CN230736 Cardiovascular phenotype;
NM_033337.3(CAV3):c.314C>T (p.Pro105Leu)859CAV3Pathogenic/Likely pathogenicrs116840805RCV000008765|RCV000024379; NMONDO:MONDO:0019947,MedGen:C1832560,OMIM:606072, Orphanet:265|MedGen:CN517202387874118787411CT3:g.8787411C>TClinGen:CA119419,Leiden Muscular Dystrophy (CAV3):CAV3_00001,UniProtKB:P56539#VAR_001403,OMIM:601253.0001C1832567 607801 Limb-girdle muscular dystrophy, type 1C;
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