MCID: CPM001
MIFTS: 33

Cap Myopathy

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Cap Myopathy

MalaCards integrated aliases for Cap Myopathy:

Name: Cap Myopathy 50 25 56 13 69
Cap Disease 50 25 56
Congenital Myopathy with Caps 50 25

Characteristics:

Orphanet epidemiological data:

56
cap myopathy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Orphanet 56 ORPHA171881
UMLS via Orphanet 70 C3710589
ICD10 via Orphanet 34 G71.2

Summaries for Cap Myopathy

NIH Rare Diseases : 50 cap myopathy is a disorder that primarily affects skeletal muscles, the muscles that the body uses for movement. people with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. the muscle weakness, which begins at birth or during childhood, can worsen over time. the name cap myopathy comes from characteristic abnormal cap-like structures that can be seen in muscle cells when muscle tissue is viewed under a microscope. the severity of cap myopathy is related to the percentage of muscle cells that have these caps. individuals in whom 70 to 75 percent of muscle cells have caps typically have severe breathing problems and may not survive childhood, while those in whom 10 to 30 percent of muscle cells have caps have milder symptoms and can live into adulthood. cap myopathy can be caused by mutations in the in the acta1, tpm2, or tpm3 genes. this condition follows an autosomal dominant manner of inheritance, however, most cases are not inherited; they result from new mutations in the gene and occur in people with no history of the disorder in their family. last updated: 9/23/2013

MalaCards based summary : Cap Myopathy, also known as cap disease, is related to nemaline myopathy 1, autosomal dominant or recessive and nemaline myopathy 4, autosomal dominant. An important gene associated with Cap Myopathy is TPM3 (Tropomyosin 3), and among its related pathways/superpathways are Cardiac muscle contraction and Striated Muscle Contraction. The drugs Amitriptyline and Cyclobenzaprine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, breast and cortex.

Genetics Home Reference : 25 Cap myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. The muscle weakness, which begins at birth or during childhood, can worsen over time.

Related Diseases for Cap Myopathy

Graphical network of the top 20 diseases related to Cap Myopathy:



Diseases related to Cap Myopathy

Symptoms & Phenotypes for Cap Myopathy

Drugs & Therapeutics for Cap Myopathy

Drugs for Cap Myopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 179)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amitriptyline Approved Phase 4 50-48-6 2160
2
Cyclobenzaprine Approved Phase 4,Phase 2,Phase 3 303-53-7 2895
3
Milnacipran Approved Phase 4,Phase 3,Phase 2 92623-85-3 65833
4
Gemfibrozil Approved Phase 4 25812-30-0 3463
5
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3,Phase 1 148553-50-8 5486971
6
Benzocaine Approved Phase 4 1994-09-7, 94-09-7 2337
7
Dopamine Approved Phase 4,Phase 2,Phase 3 51-61-6, 62-31-7 681
8
Norepinephrine Approved Phase 4,Phase 2,Phase 3 51-41-2 439260
9
Mexiletine Approved Phase 4,Phase 2 31828-71-4 4178
10
Pravastatin Approved Phase 4,Phase 2 81093-37-0 54687
11
Simvastatin Approved Phase 4 79902-63-9 54454
12 tannic acid Approved, Nutraceutical Phase 4
13 Adrenergic Agents Phase 4,Phase 3,Phase 2,Phase 1
14 Amitriptyline, perphenazine drug combination Phase 4
15 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
16 Analgesics, Non-Narcotic Phase 4,Phase 1
17 Antidepressive Agents Phase 4,Phase 2,Phase 3
18 Antidepressive Agents, Tricyclic Phase 4,Phase 2,Phase 3
19 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
20 Neuromuscular Agents Phase 4,Phase 3,Phase 2,Phase 1
21 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
22 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3,Phase 2
23 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
24 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1
25 Tranquilizing Agents Phase 4,Phase 3,Phase 2,Phase 1
26
Serotonin Phase 4,Phase 3,Phase 2 50-67-9 5202
27 Serotonin Agents Phase 4,Phase 3,Phase 2
28 Serotonin Uptake Inhibitors Phase 4,Phase 3,Phase 2
29 Anticholesteremic Agents Phase 4,Phase 2
30 Antimetabolites Phase 4,Phase 2
31 Cytochrome P-450 Enzyme Inhibitors Phase 4
32 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 2
33 Hypolipidemic Agents Phase 4,Phase 2
34 Lipid Regulating Agents Phase 4,Phase 2
35 Red yeast rice Phase 4,Phase 2
36 Anti-Anxiety Agents Phase 4,Phase 3,Phase 1
37 Anticonvulsants Phase 4,Phase 3,Phase 1
38 calcium channel blockers Phase 4,Phase 3,Phase 1
39 Calcium, Dietary Phase 4,Phase 3,Phase 2,Phase 1
40 Dopamine Agents Phase 4,Phase 2,Phase 3
41 Duloxetine Hydrochloride Phase 4,Phase 2,Phase 3
42 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4,Phase 2,Phase 3
43 Adjuvants, Immunologic Phase 4
44 Wobenzym Phase 4
45 Anti-Arrhythmia Agents Phase 4,Phase 2
46 Diuretics, Potassium Sparing Phase 4,Phase 3,Phase 2
47 Sodium Channel Blockers Phase 4,Phase 3,Phase 2
48 Atorvastatin Calcium Phase 4,Phase 2 134523-03-8
49 Micronutrients Phase 4,Phase 3
50 Trace Elements Phase 4,Phase 3

Interventional clinical trials:

(show top 50) (show all 79)

id Name Status NCT ID Phase Drugs
1 Cyclobenzaprine Extended Release (ER) for Fibromyalgia Unknown status NCT01041495 Phase 4 cyclobenzaprine ER (AMRIX);placebo
2 Effect of Gemfibrozil on the Safety and Pharmacokinetics of Red Yeast Rice in Healthy Subjects Completed NCT01385020 Phase 4 Gemfibrozil & red yeast rice (LipoCol)
3 Effects of a Polyherbal Supplement on the Signs and Symptoms of Delayed Onset Muscle Soreness Completed NCT02157675 Phase 4
4 Pregabalin In Adolescent Patients With Fibromyalgia Completed NCT01020526 Phase 4 pregabalin
5 Study of Milnacipran in Patients With Inadequate Response to Duloxetine for the Treatment of Fibromyalgia Completed NCT01077375 Phase 4 Placebo;Milnacipran
6 Adolescent Fibromyalgia Study Completed NCT01020474 Phase 4 placebo;pregabalin (Lyrica)
7 Effects of Wobenzym® Plus in Healthy, Sportive People After Eccentric Exercise Completed NCT01845558 Phase 4 Wobenzym® plus
8 Mexiletine for the Treatment of Muscle Cramps in ALS Completed NCT01811355 Phase 4 Mexiletine;Placebo
9 Quality of Life in Patients With Statin-Associated Myopathy Terminated NCT00850460 Phase 4 Statins;Placebo
10 Efficacy and Safety of Coenzyme Q10 in the Treatment of Statin-Associated Myalgia Terminated NCT00590408 Phase 4
11 Investigation of Kritech Efficacy on Subjects Having Functional Discomfort Associated to Joints and Muscles Disorders Completed NCT02318875 Phase 3
12 A Study to Compare the Efficacy and Safety of Tacrolimus Capsules in Patient With Myasthenia Gravis Completed NCT01325571 Phase 3 Tacrolimus capsule;Placebo
13 Comparison of Safety and Efficacy of Tizanidine Hydrochloride Capsules Versus Zanaflex® (Tizanidine Hydrochloride Tablets) Taken While in the Fed State (Just After a Meal) and in the Fasted State (Before a Meal) in Patients With Moderate to Severe Spastic Completed NCT00047580 Phase 3 tizanidine hydrochloride capsule
14 Treatment of Pain Associated With Fibromyalgia Completed NCT02187471 Phase 3 DS-5565 15mg tablet;150mg pregabalin capsule;placebo tablet;placebo capsule;75mg pregabalin capsule
15 Treatment of Pain Associated With Fibromyalgia Completed NCT02187159 Phase 3 DS-5565;Pregabalin;Placebo tablet;Placebo capsule
16 Treatment of Pain Associated With Fibromyalgia Completed NCT02146430 Phase 3 DS-5565;Pregabalin;Placebo tablet;Placebo capsule
17 Efficacy and Safety of Bimagrumab/BYM338 at 52 Weeks on Physical Function, Muscle Strength, Mobility in sIBM Patients Completed NCT01925209 Phase 2, Phase 3 BYM338/bimagrumab;Placebo
18 BEdtime Sublingual TNX-102 SL as Fibromyalgia Intervention Therapy (BESTFIT) Completed NCT01903265 Phase 2, Phase 3 TNX-102 SL 2.8mg;Placebo
19 A Study For Pregabalin In Patients With Fibromyalgia Completed NCT01387607 Phase 3 pregabalin;placebo
20 The Effect of Alfacalcidol on Muscle Strength in Elderly Indonesian Women : A Randomized Controlled Trial Completed NCT02327091 Phase 3 alfacalcidol
21 FMS European Long-Term Study Completed NCT00757731 Phase 3 milnacipran;Placebo
22 Use of Pentoxifylline in Human T-lymphotropic Virus Type-1 (HTLV-1) Diseases Completed NCT01472263 Phase 3 Pentoxifylline;Placebo
23 Duloxetine for Succinylcholine-induced Postoperative Myalgia Recruiting NCT03037073 Phase 2, Phase 3 Duloxetine;Placebo oral capsule
24 PLX3397 Phase 3 Study for Pigmented Villonodular Synovitis (PVNS) or Giant Cell Tumor of the Tendon Sheath (GCT-TS) Active, not recruiting NCT02371369 Phase 3 PLX3397 capsule;Placebo capsule matching PLX3397 capsule
25 Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy Active, not recruiting NCT02354352 Phase 3 Eplerenone;Spironolactone
26 DMSO for Prevention of Capsular Contraction in Alloplastic Breast Reconstruction Not yet recruiting NCT02206477 Phase 2, Phase 3 Dimethyl Sulfoxide;Saline 0.9%
27 MUltiple Sclerosis and Extract of Cannabis (MUSEC) Study Terminated NCT00552604 Phase 3 standardized cannabis extract;Placebo
28 Prospective Study of the Influence of the Diffuse Noxious Inhibitory Controls of the Pain on the Efficacy of Milnacipran in Fibromyalgia Therapy Unknown status NCT01747044 Phase 2 Milnacipran;Placebo
29 An Open Label Phase 2 Extension Study of Higher Dose Sialic Acid (ER Tablets + IR Capsules) in Patients With GNE Myopathy Completed NCT01830972 Phase 2 6g/day SA-ER tablets;6g/day SA-ER tablets and 6g/day SA-IR capsules;12g/day SA-ER
30 Safety of Red Yeast Rice for High Cholesterol in Individuals With Statin Intolerance Completed NCT00639223 Phase 2 Pravastatin
31 An Efficacy and Safety Study of Palovarotene to Treat Preosseous Flare-ups in FOP Subjects Completed NCT02190747 Phase 2 Palovarotene;Placebo
32 A Study With IPX056 in Subjects With Spasticity Associated With Multiple Sclerosis Completed NCT00914290 Phase 2 IPX056;Baclofen IR;Placebo IPX056;Placebo IR
33 Evaluation of the Antinociceptive and Analgesic Effects of Milnacipran Completed NCT00757679 Phase 2 Milnacipran;Placebo
34 Comparison of Psychological and Pharmacological Treatments for Pain Due to Temporomandibular Joint Disorder (TMD) Completed NCT00066937 Phase 2 Nortriptyline Oral Capsule;Benztropine Oral Product
35 Study of Daily Pentoxifylline as a Rescue Treatment in Duchenne Muscular Dystrophy Completed NCT00243789 Phase 1, Phase 2 Pentoxifylline
36 Study of the Safety and Tolerability Associated With PPD10558 Versus Atorvastatin in Patients Previously Intolerant to Statins Due to Statin-associated Myalgia (SAM) Completed NCT01279590 Phase 2 PPD10558;Atorvastatin;Placebo
37 Effect of Modulating the nNOS System on Cardiac, Muscular and Cognitive Function in Becker Muscular Dystrophy Patients Completed NCT01350154 Phase 2 Sildenafil;Placebo
38 Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1 Completed NCT01406873 Phase 2 Mexiletine;Placebo
39 RTA 408 Capsules in Patients With Mitochondrial Myopathy - MOTOR Recruiting NCT02255422 Phase 2 Omaveloxolone capsules, 2.5 mg;omaveloxolone capsules, 5 mg;omaveloxolone capsules, 10 mg;Placebo capsules;omaveloxolone capsules, 20 mg;omaveloxolone capsules, TBD mg;omaveloxolone capsules, 40 mg;omaveloxolone capsules, 80 mg;omaveloxolone capsules, 160 mg
40 Evaluate the Efficacy and Safety of NYX-2925 in Subjects With Fibromyalgia Recruiting NCT03249103 Phase 2 NYX-2925;Placebo oral capsule
41 Study of Orofacial Pain and PropRANOlol Recruiting NCT02437383 Phase 2 Propranolol ER;Placebo
42 HOPE-Duchenne (Halt cardiomyOPathy progrEssion in Duchenne) Active, not recruiting NCT02485938 Phase 1, Phase 2 Allogeneic Cardiosphere-Derived Cells (CAP-1002)
43 Effect of EPA and DHA in the Inflammation and Metabolic Disorders in DMD/DMB Patients Enrolling by invitation NCT01826422 Phase 2
44 In-Home Evaluation of Episodic Administration of Palovarotene in Fibrodysplasia Ossificans Progressiva (FOP) Subjects Suspended NCT02521792 Phase 2 Palovarotene
45 Chronic Fatigue Syndrome: A Presumptive Mitochondrial Disorder Withdrawn NCT01471652 Phase 2 Nutraceutical supplements;Placebo
46 To Compare the Pharmacokinetics Profiles of ISO 20, IBU 200 and IBU Plus ISO Combinations 200 + 20 Unknown status NCT01478022 Phase 1 Isosorbide Dinitrate;Ibuprofen
47 Effective Methods of Reducing Lower Back, Neck and Shoulder Pain Among Office Workers Completed NCT02874950 Phase 1
48 An fMRI Study Of Brain Response In Patients With Fibromyalgia Completed NCT00760474 Phase 1 Pregabalin, then placebo;Placebo, then pregabalin
49 Safety Study of Flavocoxid in Duchenne Muscular Dystrophy Completed NCT01335295 Phase 1 Flavocoxid
50 Rimeporide in Patients With Duchenne Muscular Dystrophy Recruiting NCT02710591 Phase 1 Rimeporide

Search NIH Clinical Center for Cap Myopathy

Genetic Tests for Cap Myopathy

Anatomical Context for Cap Myopathy

MalaCards organs/tissues related to Cap Myopathy:

39
Skeletal Muscle, Breast, Cortex, Brain, Bone, Eye

Publications for Cap Myopathy

Articles related to Cap Myopathy:

id Title Authors Year
1
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods. ( 28220527 )
2017
2
The role of ultrasound in fetal congenital myopathy detection: a novel case of fetal-onset cap myopathy. ( 23804214 )
2013
3
Novel TPM3 mutation in a family with cap myopathy and review of the literature. ( 24239060 )
2013
4
Abnormal actin binding of aberrant I^-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy. ( 22084935 )
2012
5
Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. ( 20554445 )
2010
6
Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. ( 20303757 )
2010
7
A TPM3 mutation causing cap myopathy. ( 19553118 )
2009

Variations for Cap Myopathy

Expression for Cap Myopathy

Search GEO for disease gene expression data for Cap Myopathy.

Pathways for Cap Myopathy

Pathways related to Cap Myopathy according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.05 TPM2 TPM3
2 10.66 ACTA1 TPM2 TPM3
3 10.51 TPM2 TPM3

GO Terms for Cap Myopathy

Cellular components related to Cap Myopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.54 ACTA1 TPM2 TPM3
2 sarcomere GO:0030017 9.32 ACTA1 MYPN
3 stress fiber GO:0001725 9.26 ACTA1 TPM3
4 actin cytoskeleton GO:0015629 9.16 ACTA1 TPM3
5 muscle thin filament tropomyosin GO:0005862 8.96 TPM2 TPM3
6 actin filament GO:0005884 8.8 ACTA1 TPM2 TPM3

Biological processes related to Cap Myopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.16 TPM2 TPM3
2 muscle contraction GO:0006936 9.13 ACTA1 TPM2 TPM3
3 muscle filament sliding GO:0030049 8.8 ACTA1 TPM2 TPM3

Molecular functions related to Cap Myopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.16 TPM2 TPM3
2 structural constituent of muscle GO:0008307 8.96 TPM2 TPM3
3 actin filament binding GO:0051015 8.8 MYPN TPM2 TPM3

Sources for Cap Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
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52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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