MSLHP
MCID: MSC007
MIFTS: 64

Muscle Hypertrophy (MSLHP)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Muscle Hypertrophy

MalaCards integrated aliases for Muscle Hypertrophy:

Name: Muscle Hypertrophy 56 73 29 13 6
Hypertrophy 43 17 71
Mslhp 56 73
Myostatin-Related Muscle Hypertrophy 58
Hypertrophy, Muscle 39

Characteristics:

Orphanet epidemiological data:

58
myostatin-related muscle hypertrophy
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

HPO:

31
muscle hypertrophy:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 614160
UMLS via Orphanet 72 C2931112
Orphanet 58 ORPHA275534
SNOMED-CT via HPO 68 258211005
UMLS 71 C0020564

Summaries for Muscle Hypertrophy

UniProtKB/Swiss-Prot : 73 Muscle hypertrophy: A condition characterized by increased muscle bulk and strength. Affected individuals are exceptionally strong.

MalaCards based summary : Muscle Hypertrophy, also known as hypertrophy, is related to tetralogy of fallot and heart septal defect, and has symptoms including seizures, fever and dyspnea. An important gene associated with Muscle Hypertrophy is MSTN (Myostatin), and among its related pathways/superpathways are NFAT and Cardiac Hypertrophy and Pathways in cancer. The drugs Silicon and Alfuzosin have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and prostate, and related phenotypes are skeletal muscle hypertrophy and Decreased viability with paclitaxel

Wikipedia : 74 Muscle hypertrophy involves an increase in size of skeletal muscle through a growth in size of its... more...

More information from OMIM: 614160

Related Diseases for Muscle Hypertrophy

Diseases related to Muscle Hypertrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1521)
# Related Disease Score Top Affiliating Genes
1 tetralogy of fallot 31.6 SMAD4 NPPA MYH6 GATA6 EDN1
2 heart septal defect 30.1 NPPA MYH6 GATA6
3 hypertensive heart disease 30.1 NPPA MSTN IGF1 AGT
4 reducing body myopathy 30.0 TTN FHL1
5 foot drop 29.9 TTN FHL1
6 sleep disorder 29.8 LEP IGF1 EDN1
7 sleep apnea 29.8 LEP IGF1 EDN1 AGT
8 diastolic heart failure 29.8 TTN NPPA AGT
9 progressive muscular dystrophy 29.6 NPPA FHL1
10 ventricular septal defect 29.5 NPPA MYH7 IGF1 GATA6
11 atrial standstill 1 29.5 TTN NPPA MYH7 MYH6
12 scapuloperoneal myopathy 29.4 MYH7 MYH6 FHL1
13 apnea, obstructive sleep 29.3 LEP IGF1 EDN1 AGT
14 patent ductus arteriosus 1 29.2 MYH6 GATA6 EDN1
15 myopathy, congenital 29.2 TTN MYH7 MYH6
16 neuromuscular disease 29.1 TTN MYH7 MYH6 MSTN
17 malignant hypertension 29.1 NPPA EDN1 AGT
18 familial isolated dilated cardiomyopathy 29.0 TTN MYH7 MYH6
19 aortic valve disease 2 28.9 TTN NPPA MYH7 MYH6 AGT
20 miyoshi muscular dystrophy 28.9 TTN MYH7 MYH6
21 pulmonary edema 28.9 NPPA EDN1 AGT
22 autosomal dominant polycystic kidney disease 28.9 MTOR IGF1 EDN1 AGT
23 atrial fibrillation 28.9 TTN NPPA MYH7 GATA6 AGT
24 hypoplastic left heart syndrome 28.8 NPPA MYH6 LEP GATA6
25 myofibrillar myopathy 28.8 TTN MYH7 MYH6 FHL1
26 congestive heart failure 28.8 TTN NPPA MYH7 MYH6 EDN1 AGT
27 systolic heart failure 28.8 TTN NPPA EDN1 AGT
28 myopathy 28.8 TTN MYMK MYH7 MYH6 MSTN IGF1
29 rhabdomyosarcoma 28.7 TTN SMAD4 MTOR MSTN MEF2A IGF1
30 sick sinus syndrome 28.7 TTN NPPA MYH6 AGT
31 muscular dystrophy, congenital, lmna-related 28.7 TTN MYH7 MYH6 MSTN FHL1
32 hypertension, essential 28.6 NPPA MYH6 MTOR LEP IGF1 EDN1
33 atrial heart septal defect 28.5 TTN NPPA MYH7 MYH6 GATA6 EDN1
34 respiratory failure 28.4 TTN NPPA MYH7 FHL1 EDN1
35 cardiovascular system disease 28.4 NPPA LEP IGF1 EDN1 AGT
36 pre-eclampsia 28.2 NPPA LEP IGF1 EDN1 AGT
37 aortic valve disease 1 28.1 SMAD4 MYH6 GATA6 EDN1
38 diabetes mellitus 28.0 MTOR LEP IGF1 GATA6 FOXO1 EDN1
39 diabetes mellitus, noninsulin-dependent 27.9 MTOR MSTN MEF2A LEP IGF1 FOXO1
40 chronic kidney disease 27.8 NPPA LEP IGF1 EDN1 AGT
41 body mass index quantitative trait locus 11 27.5 MTOR MSTN LEP IGF1 FOXO1 EDN1
42 myocardial infarction 27.4 NPPA MYH7 MYH6 MEF2A LEP IGF1
43 dilated cardiomyopathy 27.3 TTN NPPA MYH7 MYH6 MTPN MEF2A
44 hypertrophic cardiomyopathy 27.1 TTN NPPA MYH7 MYH6 MEF2A IGF1
45 heart disease 26.8 TTN SMAD4 NPPA MYH7 MYH6 MSTN
46 myostatin-related muscle hypertrophy 12.9
47 adenoid hypertrophy 12.7
48 hypertrophy of breast 12.6
49 hypertrophy of the breast, juvenile 12.6
50 masticatory muscles, hypertrophy of 12.6

Graphical network of the top 20 diseases related to Muscle Hypertrophy:



Diseases related to Muscle Hypertrophy

Symptoms & Phenotypes for Muscle Hypertrophy

Human phenotypes related to Muscle Hypertrophy:

31
# Description HPO Frequency HPO Source Accession
1 skeletal muscle hypertrophy 31 HP:0003712

Clinical features from OMIM:

614160

UMLS symptoms related to Muscle Hypertrophy:


seizures, fever, dyspnea, edema, cachexia, vertigo, headache, syncope, cyanosis, hepatosplenomegaly, icterus, signs and symptoms, signs and symptoms, digestive, hot flushes

GenomeRNAi Phenotypes related to Muscle Hypertrophy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with paclitaxel GR00179-A-1 9.02 IGF1 MTOR
2 Decreased viability with paclitaxel GR00179-A-2 9.02 IGF1 MTOR
3 Decreased viability with paclitaxel GR00179-A-3 9.02 MTOR

MGI Mouse Phenotypes related to Muscle Hypertrophy:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.38 AGT EDN1 FHL1 FOXO1 GATA6 IGF1
2 growth/size/body region MP:0005378 10.28 AGT EDN1 FHL1 FOXO1 GATA6 HDAC4
3 homeostasis/metabolism MP:0005376 10.28 AGT EDN1 FHL1 FOXO1 GATA6 IGF1
4 behavior/neurological MP:0005386 10.27 AGT FHL1 FOXO1 HDAC4 LEP MEF2A
5 mortality/aging MP:0010768 10.22 AGT EDN1 FOXO1 GATA6 HDAC4 IGF1
6 muscle MP:0005369 10.21 AGT EDN1 FHL1 FOXO1 GATA6 HDAC4
7 cellular MP:0005384 10.2 FOXO1 GATA6 IGF1 LEP MEF2A MSTN
8 adipose tissue MP:0005375 10.05 AGT FOXO1 IGF1 KLF15 LEP MSTN
9 liver/biliary system MP:0005370 9.97 AGT FOXO1 GATA6 KLF15 LEP MSTN
10 normal MP:0002873 9.85 EDN1 FOXO1 GATA6 IGF1 MEF2A MTOR
11 renal/urinary system MP:0005367 9.61 AGT EDN1 IGF1 KLF15 LEP MSTN
12 skeleton MP:0005390 9.32 EDN1 FOXO1 HDAC4 IGF1 LEP MSTN

Drugs & Therapeutics for Muscle Hypertrophy

Drugs for Muscle Hypertrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 533)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Silicon Approved, Investigational Phase 4 7440-21-3 4082203
2
Alfuzosin Approved, Investigational Phase 4 81403-80-7 2092
3
Azathioprine Approved Phase 4 446-86-6 2265
4
Atorvastatin Approved Phase 4 134523-00-5 60823
5
Mannitol Approved, Investigational Phase 4 69-65-8 6251 453
6
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
7
Amiodarone Approved, Investigational Phase 4 1951-25-3 2157
8
Propafenone Approved Phase 4 54063-53-5 4932
9
Sotalol Approved Phase 4 3930-20-9, 959-24-0 5253
10
Icodextrin Approved, Investigational Phase 4 337376-15-5
11
Trandolapril Approved Phase 4 87679-37-6 5484727
12
Iloprost Approved, Investigational Phase 4 78919-13-8 6443959
13
Rilpivirine Approved Phase 4 500287-72-9
14
Darunavir Approved Phase 4 206361-99-1, 635728-49-3 213039
15
Cobicistat Approved Phase 4 1004316-88-4
16
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
17
Benazepril Approved, Investigational Phase 4 86541-75-5 5362124
18
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
19
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
20
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
21
Everolimus Approved Phase 4 159351-69-6 70789204 6442177
22
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
23
Mycophenolic acid Approved Phase 4 24280-93-1 446541
24
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
25
Lisinopril Approved, Investigational Phase 4 76547-98-3, 83915-83-7 5362119
26
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
27
Atenolol Approved Phase 4 29122-68-7 2249
28
Doxazosin Approved Phase 4 74191-85-8 3157
29
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
30
Enalapril Approved, Vet_approved Phase 4 75847-73-3 40466924 5362032
31
Enalaprilat Approved Phase 4 76420-72-9 6917719
32
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
33
Silodosin Approved Phase 4 160970-54-7
34
Calcium carbonate Approved, Investigational Phase 4 471-34-1
35
Acarbose Approved, Investigational Phase 4 56180-94-0 441184
36
Captopril Approved Phase 4 62571-86-2 44093
37
Metformin Approved Phase 4 657-24-9 14219 4091
38
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
39
Clobetasol Approved, Experimental, Investigational Phase 4 25122-41-2, 25122-46-7 32798 5311051
40
Petrolatum Approved, Investigational Phase 4 8009-03-8
41
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
42
Perindopril Approved Phase 4 107133-36-8, 82834-16-0 107807
43
Canagliflozin Approved Phase 4 842133-18-0
44
Dihydrotachysterol Approved Phase 4 67-96-9 5311071 5281010
45
Ramipril Approved Phase 4 87333-19-5 5362129
46
Glyburide Approved Phase 4 10238-21-8 3488
47
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
48
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
49
Dexlansoprazole Approved, Investigational Phase 4 103577-45-3, 138530-94-6 9578005
50
Olmesartan Approved, Investigational Phase 4 144689-24-7, 144689-63-4 158781 130881

Interventional clinical trials:

(show top 50) (show all 1310)
# Name Status NCT ID Phase Drugs
1 Eplerenone and Aliskiren Research Targeting Hypertensive Patients With Left Ventricular Hypertrophy Unknown status NCT01893788 Phase 4 Aliskiren;Eplerenone
2 A Single-center,Randomized,Open-label,12 Months Study,2 Parallel Group to Compare the Efficacy of Everolimus Combination + Tacrolimus in Regression of Left Ventricular Hypertrophy vs Tacrolimus + MMF in Renal Transplant Patients Unknown status NCT03415750 Phase 4 Everolimus;Mycophenolate mofetil;Tacrolimus
3 Effects of Everolimus in Left Ventricular Hypertrophy After Conversion From Azathioprine: A Pilot Study Unknown status NCT02493465 Phase 4 Everolimus
4 Changes of Left Ventricular Mass and Cardiac Function in Patients With Active Acromegaly During Treatment With the Growth Hormone Receptor Antagonist Pegvisomant: an Open-labelled, Prospective Study Unknown status NCT00552851 Phase 4 pegvisomant
5 Mitigating Cardiac Inflammation and Oxidative Stress in Atrial Myocardium Via Short-term Lovaza Treatment Prior to Surgery Unknown status NCT01046604 Phase 4 Lovaza group
6 Effect of Vaxoral® (OM-85) on Frequency of Respiratory Tract Infections and Size of Adenoid Tissue in Preschool Children With Adenoid Hypertrophy Unknown status NCT03243565 Phase 4
7 Effects of Thalidomide on Left Ventricular Morphology and Function in Patients With Congestive Heart Failure - The THUNDER Trial Unknown status NCT01640639 Phase 4 Thalidomide;Placebo
8 Randomized Controlled Study of Plasmaknife Tonsillectomy Versus Monopolar Tonsillectomy Unknown status NCT00466544 Phase 4
9 Comparison of Three Different Rates of Continuous Intravenous Sufentanil Infusion for Postoperative Pain Management Following Coblation Tonsillectomy or Adeno-tonsillectomy in Children Unknown status NCT02205580 Phase 4 continuous intravenous sufentanil 0.02μg•kg-1•h-1 infusion;continuous intravenous sufentanil 0.03μg•kg-1•h-1 infusion;continuous intravenous sufentanil 0.04μg•kg-1•h-1 infusion
10 Protective Mechanisms of Aldosterone Antagonists and Their Effects on Cardiovascular Damage in Chronic Renal Failure: Clinical and Experimental Studies Unknown status NCT00277693 Phase 4 Spironolactone (drug)
11 Topical Tacrolimus in Vernal Keratoconjunctivitis Unknown status NCT02456025 Phase 4 Topical tacrolimus
12 A Prospective Study of Medical Therapy Against Cryoballoon Ablation in Symptomatic Recent Onset Persistent Atrial Fibrilation Unknown status NCT02389218 Phase 4 sequential drug adjustment (propafenone, sotalol or flecainide)
13 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Unknown status NCT00879060 Phase 4 spironolactone
14 A Randomized Investigator-blind Multi-center Prospective Study for the Efficacy and Safety of Silicon Gel (Dermatix) in the Prevention of Hypertrophic Scar in Subjects Undergoing Caesarean Section Unknown status NCT01004536 Phase 4
15 Effects of Spironolactone on Collagen Metabolism in Pulmonary Arterial Hypertension Unknown status NCT01468571 Phase 4 Spironolactone;Placebo
16 Intra-articular Botulinum Toxin Type A Versus Corticosteroids: a Clinical Trial in Osteoarthritis of Knees Unknown status NCT02829281 Phase 4 Botulinum Toxin Type A;Triamcinolone hexacetonide;Saline
17 Assessment of the Effects of the Combination of Spironolactone to Conventional Pharmacotherapy in Dialysis Patients Unknown status NCT01128101 Phase 4 Spironolactone
18 A Randomized, Double-blind, Placebo-controlled Study of Dexlansoprazole to Treat Laryngopharyngeal Reflux and Lingual Tonsil Hypertrophy Unknown status NCT01328652 Phase 4 dexlansoprazole
19 Effect of Renal deNervation on Arterial Stiffness and Haemodynamics in Patients With UncontRolled hypErtension (ENSURE) Unknown status NCT02102126 Phase 4
20 Efficacy Study of Olmesartan Medoxomil on Coronary Atherosclerosis Progression and Epicardial Adipose Tissue(EAT) Volume Reduction in Patients With Coronary Atherosclerosis Detected by Coronary CT Angiography(CCTA) Unknown status NCT02360956 Phase 4 Olmesartan medoxomil tablets;Antihypertensive medication (per doctor suggestion)
21 Treatment of Erectile Dysfunction in Hypogonadal Men With Testosterone Undecanoate i.m. 1000 mg. A Prospective, Multi-Center Clinical Study Phase IV. Unknown status NCT00555087 Phase 4 Testosterone Undecanoate and/or PDE-5
22 Significance of Regional Ventriculo-arterial Coupling in Patients With Chronic Heart Failure: Effects of Endothelial Progenitor Cells and a Direct Renin Inhibitor Unknown status NCT01156207 Phase 4 Aliskiren
23 A Randomised, Placebo Controlled, Double Blind, Cross-over, Single Center Clinical Study to Investigate the Effect of Heart Rate Reduction With Ivabradine on Vascular Elastic Properties and Endothelial Function in Patients With Stable Coronary Heart Disease Unknown status NCT01768585 Phase 4 Ivabradine;Placebo
24 A 24-week Open-label Clinical Trial to Assess Tolerability and Antihypertensive Effect and in Hemodynamic Parameters and Arterial Stiffness of Fimasartan 60 mg Plus Amlodipine Besylate 5 mg Given Once a Day in Patients With Hypertension in Stadiums 2/3 Unknown status NCT03294070 Phase 4
25 A Randomised Open Label, Blinded End Point Trial to Compare the Effects of Spironolactone With Chlortalidone on LV Mass in Stage 3 Chronic Kidney Disease (SPIRO-CKD) Unknown status NCT02502981 Phase 4 Spironolactone;Chlortalidone
26 Acute Haemodynamic Effects of Treatment With ACE-Inhibitors in Patients With Symptomatic Aortic Stenosis (ACCESS) Unknown status NCT00252317 Phase 4 Captopril and Trandolapril;Captopril Test Dose and Trandolapril
27 Inhaled Iloprost for Disproportionate Pulmonary Hypertension in Chronic Obstructive Pulmonary Disease Unknown status NCT01116063 Phase 4 Inhaled iloprost
28 the Effect of Nifedipine Controlled Release Tablets in Hypertensive Patients on Chronic Maintenance Hemodialysis and the Influence of Hemodialysis on the Plasma Concentration of Nifedipine Unknown status NCT01021501 Phase 4 nifedipine controlled release tablets
29 Effects of Non-Glucose-Based Peritoneal Dialysis Solution "EXTRANEAL" on Changes in Leptin Levels and Sympathetic Activity Induced by Conventional Glucose-Based Dialysate "DIANEAL" in Patients on Peritoneal Dialysis Unknown status NCT01228279 Phase 4
30 Safety and Efficacy of Angiotensin Receptor Blocker, Fimasartan, on Patients With Aortic Stenosis Unknown status NCT01589380 Phase 4 Fimasartan;Placebo
31 Pre-hYpertension tReament With A coMbinatIon of Dietary Supplements and Life-style Modifications Unknown status NCT01682291 Phase 4
32 Effects of Atorvastatin Treatment on Left Ventricular Diastolic Function in Peritoneal Dialysis Patients (ALEVENT) Unknown status NCT01503671 Phase 4 Atorvastatin
33 The Efficacy of Alpha-blockers for Expulsion of Distal Ureteral Stones Unknown status NCT00451061 Phase 4 Alfuzosin;Tamsulosin
34 A Phase IV 48 Week, Open Label, Pilot Study of Darunavir Boosted by Cobicistat in Combination With Rilpivirine to Treat HIV+ Naïve Subjects (PREZENT) Unknown status NCT02404233 Phase 4 darunavir/cobicistat;rilpivirine
35 Prospective Evaluation of Xeomin Cosmetic in the Management of the Masseter Using Two Different Injection Techniques Completed NCT03376464 Phase 4
36 Effect of Valsartan on Left Ventricular Myocardial Functions in Hypertensive Patients With Left Ventricular Hypertrophy Completed NCT01425411 Phase 4 valsartan
37 Effects of Amlodipine/Benazepril in Reducing Left Ventricular Hypertrophy in Patients With High Risk Hypertension Completed NCT00139555 Phase 4 amlodipine/benazepril
38 Multicenter Prospective Study on the Changes of Sexual Function Following Treatment With Alfuzosin (Xatral XL) in Patients With Benign Prostatic Hypertrophy Completed NCT00542165 Phase 4 Alfuzosin
39 Open Label Pilot Trial, Evaluating the Role of Nasonex in the Management of Nasal Obstruction Secondary to Adenoids Hypertrophy in Children Completed NCT01098071 Phase 4 mometasone furoate nasal spray
40 Irbesartan In Hypertensive Patients With Left Ventricular Hypertrophy Completed NCT00362037 Phase 4 Irbesartan (Aprovel)
41 Left Ventricular Hypertrophy and Spironolactone in End Stage Renal Disease Completed NCT00548912 Phase 4 Spironolactone
42 A Multicenter, Non-comparative, Phase IV Study to Evaluate the Effect of Candesartan Based Therapy in the Percent Change of proBNP Level After 24 Week Treatment in the Patients With Hypertension With Left Ventricular Hypertrophy Completed NCT00348686 Phase 4 Candesartan;Candesartan;Felodipine;Felodipine
43 Do Xanthine Oxidase Inhibitors Reduce Both Left Ventricular Hypertrophy and Endothelial Dysfunction in Cardiovascular Patients With Renal Dysfunction? Completed NCT00688480 Phase 4 Placebo;Allopurinol
44 A Phase 4, Double-blind, Randomized, Placebo-controlled Multicenter Study to Evaluate the Efficacy and Safety of Mirabegron in Japanese and Korean Male Patients With Overactive Bladder Under Treatment With the α-Blocker Tamsulosin for Benign Prostatic Hyperplasia Completed NCT02656173 Phase 4 Mirabegron;Placebo;Tamsulosin
45 Glutamate Infusion in Hypertrophied Ventricle After Aortic Valve Replacement - a Randomized Trial Completed NCT01144039 Phase 4 LG-group;HG-group;Placebo-group
46 A Prospective, Randomized, Open-Label, 13 to 14-week Study of the Efficacy and Safety of Valsartan and Nebivolol/Valsartan in Hypertensive Subjects With Left Ventricular Hypertrophy (LVH) Completed NCT03180593 Phase 4 Valsartan 80 mg
47 A Pilot Study to Evaluate the Efficacy of Total Parathyroidectomy in Retarding Cardiovascular Calcification in End-stage Renal Disease Patients Completed NCT00745719 Phase 4
48 Combination Therapy With Mometasone Furoate and Oxymetazoline in the Treatment of Adenoid Hypertrophy Concomitant With Allergic Rhinitis Completed NCT02559440 Phase 4 mometasone furoate;Placebo;Oxymetazoline + Placebo;Placebo + placebo;mometasone furoate + Placebo;mometasone furoate + Oxymetazoline
49 Efficacy of Oral Leukotriene in Long Term Therapy of Mild and Moderate Obstructive Sleep Apnea Syndrome (OSAS) in Children Completed NCT00912171 Phase 4 budesonide (Aircort 50 nasal spray);montelukast (Singulair)
50 Impacts of Aldosterone Blockade on Myocardial Remodeling in Hypertensive Patients With Diastolic Failing Heart Completed NCT01944384 Phase 4 aldactone

Search NIH Clinical Center for Muscle Hypertrophy

Cochrane evidence based reviews: hypertrophy

Genetic Tests for Muscle Hypertrophy

Genetic tests related to Muscle Hypertrophy:

# Genetic test Affiliating Genes
1 Muscle Hypertrophy 29 MSTN

Anatomical Context for Muscle Hypertrophy

MalaCards organs/tissues related to Muscle Hypertrophy:

40
Skeletal Muscle, Heart, Prostate, Kidney, Smooth Muscle, Liver, Endothelial

Publications for Muscle Hypertrophy

Articles related to Muscle Hypertrophy:

(show top 50) (show all 3897)
# Title Authors PMID Year
1
Myostatin mutation associated with gross muscle hypertrophy in a child. 56 6 54 61
15215484 2004
2
Myostatin mutation associated with gross muscle hypertrophy in a child. 56 54 61
15342814 2004
3
A mutation in the myostatin gene increases muscle mass and enhances racing performance in heterozygote dogs. 56
17530926 2007
4
A mutation creating a potential illegitimate microRNA target site in the myostatin gene affects muscularity in sheep. 56
16751773 2006
5
Double muscling in Marchigiana beef breed is caused by a stop codon in the third exon of myostatin gene. 56
12879361 2003
6
Myostatin knockout in mice increases myogenesis and decreases adipogenesis. 56
11855847 2002
7
A deletion in the myostatin gene causes the compact (Cmpt) hypermuscular mutation in mice. 56
9680391 1998
8
A deletion in the bovine myostatin gene causes the double-muscled phenotype in cattle. 56
9288100 1997
9
Regulation of skeletal muscle mass in mice by a new TGF-beta superfamily member. 56
9139826 1997
10
The mh gene causing double-muscling in cattle maps to bovine Chromosome 2. 56
8597635 1995
11
Pulmonary artery smooth muscle hypertrophy: roles of glycogen synthase kinase-3beta and p70 ribosomal S6 kinase. 54 61
20190034 2010
12
p70 Ribosomal S6 kinase is required for airway smooth muscle cell size enlargement but not increased contractile protein expression. 61 54
19648476 2010
13
Coordinated increase in skeletal muscle fiber area and expression of IGF-I with resistance exercise in elderly post-operative patients. 54 61
20031461 2010
14
Muscle hypertrophy and increased expression of leptin receptors in the musculus triceps brachii of the dominant arm in professional tennis players. 61 54
20187280 2010
15
Calmodulin kinase II is required for angiotensin II-mediated vascular smooth muscle hypertrophy. 61 54
20023119 2010
16
Exercise does not influence myostatin and follistatin messenger RNA expression in young women. 54 61
20124796 2010
17
Exercise and the growth hormone-insulin-like growth factor axis. 54 61
20010129 2010
18
Involvement of PI3K/Akt/TOR pathway in stretch-induced hypertrophy of myotubes. 61 54
19768770 2010
19
Cycle training increased GLUT4 and activation of mammalian target of rapamycin in fast twitch muscle fibers. 61 54
20010125 2010
20
Effects of high-intensity resistance training in patients with rheumatoid arthritis: a randomized controlled trial. 54 61
19950325 2009
21
Ca2+/calmodulin-dependent transcriptional pathways: potential mediators of skeletal muscle growth and development. 54 61
19725819 2009
22
Inducible activation of Akt increases skeletal muscle mass and force without satellite cell activation. 61 54
19661286 2009
23
Extraocular muscle hypertrophy in myotonia congenita: Mutation identified in the SCN4A gene (V445M). 54 61
19840739 2009
24
The adaptive responses in several mediators linked with hypertrophy and atrophy of skeletal muscle after lower limb unloading in humans. 61 54
19432591 2009
25
Muscle hypertrophy driven by myostatin blockade does not require stem/precursor-cell activity. 61 54
19383783 2009
26
Atrogin-1/MAFbx enhances simulated ischemia/reperfusion-induced apoptosis in cardiomyocytes through degradation of MAPK phosphatase-1 and sustained JNK activation. 54 61
19117950 2009
27
Muscle expressions of MGF, IGF-IEa, and myostatin in intact and hypophysectomized rats: effects of rhGH and testosterone alone or combined. 61 54
18841527 2009
28
Regulation of mTOR signaling in skeletal muscle hypertrophy. 61 54
19147966 2008
29
Growth factors, muscle function and doping. 61 54
18353722 2008
30
Gene doping: the hype and the reality. 54 61
18500383 2008
31
Inhibition of glycogen synthase kinase-3beta is sufficient for airway smooth muscle hypertrophy. 54 61
18252708 2008
32
PGF2alpha-associated vascular smooth muscle hypertrophy is ROS dependent and involves the activation of mTOR, p70S6k, and PTEN. 61 54
18160324 2008
33
Muscle-specific overexpression of the type 1 IGF receptor results in myoblast-independent muscle hypertrophy via PI3K, and not calcineurin, signaling. 61 54
17940216 2007
34
The influence of eccentric exercise on mRNA expression of skeletal muscle regulators. 61 54
17661068 2007
35
Extracellular signal-regulated kinase pathway is differentially involved in beta-agonist-induced hypertrophy in slow and fast muscles. 54 61
17151143 2007
36
IL-13 mediates the recruitment of reserve cells for fusion during IGF-1-induced hypertrophy of human myotubes. 61 54
17264150 2007
37
mTOR pathway as a target in tissue hypertrophy. 54 61
16968213 2007
38
Skeletal muscle IL-4, IL-4Ralpha, IL-13 and IL-13Ralpha1 expression and response to strength training. 54 61
18198661 2007
39
The ABCs of IGF-I isoforms: impact on muscle hypertrophy and implications for repair. 61 54
17213901 2006
40
Skeletal muscle stem cells: a symposium. 54 61
17213898 2006
41
Ectopic insulin-like growth factor I expression in avian skeletal muscle prevents expression of CMD4, a novel inhibitor of differentiation. 61 54
16423499 2006
42
Akt signalling through GSK-3beta, mTOR and Foxo1 is involved in human skeletal muscle hypertrophy and atrophy. 61 54
16916907 2006
43
Local changes in the insulin-like growth factor system in human skeletal muscle assessed by microdialysis and arterio-venous differences technique. 61 54
16904923 2006
44
Transforming growth factor-beta induces airway smooth muscle hypertrophy. 54 61
16239645 2006
45
Prevention and treatment of cancer cachexia: new insights into an old problem. 54 61
16314085 2006
46
Molecular mechanisms involving IGF-1 and myostatin to induce muscle hypertrophy as a therapeutic strategy for Duchenne muscular dystrophy. 61 54
16629058 2005
47
mTOR function in skeletal muscle hypertrophy: increased ribosomal RNA via cell cycle regulators. 61 54
16079186 2005
48
Myostatin: a modulator of skeletal-muscle stem cells. 61 54
16246158 2005
49
Muscle regeneration through myostatin inhibition. 54 61
16224249 2005
50
The biological function of insulin-like growth factor-I in myogenesis and its therapeutic effect on muscular dystrophy. 54 61
16550928 2005

Variations for Muscle Hypertrophy

ClinVar genetic disease variations for Muscle Hypertrophy:

6 (show top 50) (show all 52) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MSTN NM_005259.3(MSTN):c.373+5G>ASNV Pathogenic 7705 rs397515373 2:190926945-190926945 2:190062219-190062219
2 MSTN NM_005259.3(MSTN):c.263G>A (p.Arg88Gln)SNV Conflicting interpretations of pathogenicity 333242 rs138343163 2:190927060-190927060 2:190062334-190062334
3 MSTN NM_005259.3(MSTN):c.*923T>CSNV Uncertain significance 333222 rs886055371 2:190921061-190921061 2:190056335-190056335
4 MSTN NM_005259.3(MSTN):c.*259A>GSNV Uncertain significance 333230 rs578136956 2:190921725-190921725 2:190056999-190056999
5 MSTN NM_005259.3(MSTN):c.*1073G>TSNV Uncertain significance 333221 rs886055370 2:190920911-190920911 2:190056185-190056185
6 MSTN NM_005259.3(MSTN):c.*1316C>GSNV Uncertain significance 898411 2:190920668-190920668 2:190055942-190055942
7 MSTN NM_005259.3(MSTN):c.*1273C>TSNV Uncertain significance 898412 2:190920711-190920711 2:190055985-190055985
8 MSTN NM_005259.3(MSTN):c.*1063A>GSNV Uncertain significance 895418 2:190920921-190920921 2:190056195-190056195
9 MSTN NM_005259.3(MSTN):c.*784G>ASNV Uncertain significance 895419 2:190921200-190921200 2:190056474-190056474
10 MSTN NM_005259.3(MSTN):c.*695A>CSNV Uncertain significance 895420 2:190921289-190921289 2:190056563-190056563
11 MSTN NM_005259.3(MSTN):c.*336C>ASNV Uncertain significance 896815 2:190921648-190921648 2:190056922-190056922
12 MSTN NM_005259.3(MSTN):c.*127T>CSNV Uncertain significance 896816 2:190921857-190921857 2:190057131-190057131
13 MSTN NM_005259.3(MSTN):c.1085G>A (p.Gly362Glu)SNV Uncertain significance 897310 2:190922027-190922027 2:190057301-190057301
14 MSTN NM_005259.3(MSTN):c.897C>T (p.Ile299=)SNV Uncertain significance 897311 2:190922215-190922215 2:190057489-190057489
15 MSTN NM_005259.3(MSTN):c.796A>C (p.Arg266=)SNV Uncertain significance 897312 2:190922316-190922316 2:190057590-190057590
16 MSTN NM_005259.3(MSTN):c.547G>C (p.Gly183Arg)SNV Uncertain significance 898475 2:190924988-190924988 2:190060262-190060262
17 MSTN NM_005259.3(MSTN):c.513G>A (p.Val171=)SNV Uncertain significance 898477 2:190925022-190925022 2:190060296-190060296
18 MSTN NM_005259.3(MSTN):c.453A>G (p.Val151=)SNV Uncertain significance 895482 2:190925082-190925082 2:190060356-190060356
19 MSTN NM_005259.3(MSTN):c.98T>C (p.Val33Ala)SNV Uncertain significance 895483 2:190927225-190927225 2:190062499-190062499
20 MSTN NM_005259.3(MSTN):c.-99G>ASNV Uncertain significance 896884 2:190927421-190927421 2:190062695-190062695
21 MSTN NM_005259.3(MSTN):c.*121A>GSNV Uncertain significance 333232 rs886055372 2:190921863-190921863 2:190057137-190057137
22 MSTN NM_005259.3(MSTN):c.*697T>CSNV Uncertain significance 333224 rs186458339 2:190921287-190921287 2:190056561-190056561
23 MSTN NM_005259.3(MSTN):c.*1145deldeletion Likely benign 333220 rs199602321 2:190920839-190920839 2:190056113-190056113
24 MSTN NM_005259.3(MSTN):c.*41G>TSNV Likely benign 333233 rs762191502 2:190921943-190921943 2:190057217-190057217
25 MSTN NM_005259.3(MSTN):c.516A>C (p.Gln172His)SNV Likely benign 898476 2:190925019-190925019 2:190060293-190060293
26 MSTN NM_005259.3(MSTN):c.1062T>C (p.Asn354=)SNV Likely benign 333234 rs761053215 2:190922050-190922050 2:190057324-190057324
27 MSTN NM_005259.3(MSTN):c.748-3C>TSNV Likely benign 333235 rs374256136 2:190922367-190922367 2:190057641-190057641
28 MSTN NM_005259.3(MSTN):c.466C>A (p.Leu156Ile)SNV Likely benign 333239 rs35493945 2:190925069-190925069 2:190060343-190060343
29 MSTN NM_005259.3(MSTN):c.*574G>ASNV Likely benign 333225 rs114597606 2:190921410-190921410 2:190056684-190056684
30 MSTN NM_005259.3(MSTN):c.-44_-42GAA[1]short repeat Likely benign 333245 rs772646099 2:190927361-190927363 2:190062635-190062637
31 MSTN NM_005259.3(MSTN):c.386T>G (p.Met129Arg)SNV Benign/Likely benign 333240 rs142195885 2:190925149-190925149 2:190060423-190060423
32 MSTN NM_005259.3(MSTN):c.490G>A (p.Glu164Lys)SNV Benign/Likely benign 333238 rs35781413 2:190925045-190925045 2:190060319-190060319
33 MSTN NM_005259.3(MSTN):c.180C>T (p.Ile60=)SNV Benign/Likely benign 333243 rs35321585 2:190927143-190927143 2:190062417-190062417
34 MSTN NM_005259.3(MSTN):c.674T>C (p.Ile225Thr)SNV Benign/Likely benign 333236 rs143242500 2:190924861-190924861 2:190060135-190060135
35 MSTN NM_005259.3(MSTN):c.*1514C>GSNV Benign 333215 rs12105165 2:190920470-190920470 2:190055744-190055744
36 MSTN NM_005259.3(MSTN):c.*1203G>CSNV Benign 333219 rs3187415 2:190920781-190920781 2:190056055-190056055
37 MSTN NM_005259.3(MSTN):c.*742C>TSNV Benign 333223 rs72909336 2:190921242-190921242 2:190056516-190056516
38 MSTN NM_005259.3(MSTN):c.*273C>GSNV Benign 333229 rs150145410 2:190921711-190921711 2:190056985-190056985
39 MSTN NM_005259.3(MSTN):c.*493G>ASNV Benign 333226 rs16832285 2:190921491-190921491 2:190056765-190056765
40 MSTN NM_005259.3(MSTN):c.*290C>TSNV Benign 333228 rs537956645 2:190921694-190921694 2:190056968-190056968
41 MSTN NM_005259.3(MSTN):c.306C>T (p.Ser102=)SNV Benign 333241 rs34191156 2:190927017-190927017 2:190062291-190062291
42 MSTN NM_005259.3(MSTN):c.163G>A (p.Ala55Thr)SNV Benign 65687 rs1805085 2:190927160-190927160 2:190062434-190062434
43 MSTN NM_005259.3(MSTN):c.458A>G (p.Lys153Arg)SNV Benign 65688 rs1805086 2:190925077-190925077 2:190060351-190060351
44 MSTN NM_005259.3(MSTN):c.-17A>CSNV Benign 333244 rs201887141 2:190927339-190927339 2:190062613-190062613
45 MSTN NM_005259.3(MSTN):c.*135G>ASNV Benign 333231 rs60490864 2:190921849-190921849 2:190057123-190057123
46 MSTN NM_005259.3(MSTN):c.*1332A>GSNV Benign 333218 rs3791782 2:190920652-190920652 2:190055926-190055926
47 MSTN NM_005259.3(MSTN):c.*1450T>CSNV Benign 333216 rs144167726 2:190920534-190920534 2:190055808-190055808
48 MSTN NM_005259.3(MSTN):c.*395A>CSNV Benign 333227 rs16823986 2:190921589-190921589 2:190056863-190056863
49 MSTN NM_005259.3(MSTN):c.*1362A>GSNV Benign 333217 rs377503267 2:190920622-190920622 2:190055896-190055896
50 MSTN NM_005259.3(MSTN):c.551C>T (p.Thr184Ile)SNV Benign 333237 rs369290669 2:190924984-190924984 2:190060258-190060258

Expression for Muscle Hypertrophy

Search GEO for disease gene expression data for Muscle Hypertrophy.

Pathways for Muscle Hypertrophy

Pathways related to Muscle Hypertrophy according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.7 MTOR MEF2A IGF1 EDN1 AGT
2 12.66 SMAD4 MTOR IGF1 FOXO1 EDN1 AGT
3
Show member pathways
12.41 NPPA MYH7 MYH6 MEF2A AGT
4
Show member pathways
12.35 MTOR LEP IGF1 HDAC4 FOXO1
5 11.96 SMAD4 MTOR MEF2A HDAC4
6
Show member pathways
11.9 TTN MYH7 MYH6 IGF1 EDN1 AGT
7 11.86 MYH7 MYH6 MTOR FOXO1
8 11.78 SMAD4 MTOR IGF1
9 11.74 NPPA MTOR IGF1 EDN1
10 11.72 SMAD4 MTOR FOXO1
11 11.62 SMAD4 FOXO1 EDN1 AGT
12 11.56 NPPA EDN1 AGT
13 11.55 MEF2A LEP KLF15 IGF1 FOXO1 AGT
14 11.53 SMAD4 LEP EDN1
15
Show member pathways
11.37 NPPA MTOR MEF2A IGF1 HDAC4 EDN1
16 11.1 MTOR MSTN IGF1
17
Show member pathways
10.96 MTOR IGF1 EDN1
18 10.78 SMAD4 NPPA MYH7

GO Terms for Muscle Hypertrophy

Cellular components related to Muscle Hypertrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10 TTN SMAD4 NPPA MYH7 MYH6 MTPN
2 muscle myosin complex GO:0005859 9.26 MYH7 MYH6
3 Z disc GO:0030018 9.26 TTN MYH7 MYH6 HDAC4
4 sarcomere GO:0030017 8.92 TTN MYH7 MYH6 HDAC4

Biological processes related to Muscle Hypertrophy according to GeneCards Suite gene sharing:

(show all 44)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.16 SMAD4 MEF2A KLF15 IGF1 HDAC4 GATA6
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.11 SMAD4 MEF2A LEP HDAC4 GATA6 FOXO1
3 positive regulation of cell proliferation GO:0008284 10.07 LEP IGF1 HDAC4 EDN1 AGT
4 in utero embryonic development GO:0001701 9.95 SMAD4 MYH6 GATA6 EDN1
5 response to hypoxia GO:0001666 9.93 SMAD4 NPPA LEP EDN1
6 negative regulation of cell growth GO:0030308 9.88 SMAD4 NPPA FHL1 AGT
7 female pregnancy GO:0007565 9.85 NPPA LEP AGT
8 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.85 MTOR IGF1 AGT
9 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.81 MYOC LEP IGF1 AGT
10 positive regulation of transcription, DNA-templated GO:0045893 9.81 SMAD4 MSTN MEF2A KLF15 IGF1 HDAC4
11 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.8 IGF1 EDN1 AGT
12 cellular response to mechanical stimulus GO:0071260 9.8 NPPA MTPN HDAC4 AGT
13 response to activity GO:0014823 9.79 MTOR LEP EDN1
14 positive regulation of nitric oxide biosynthetic process GO:0045429 9.79 MTOR EDN1 AGT
15 positive regulation of glucose import GO:0046326 9.77 MEF2A KLF15 IGF1
16 muscle filament sliding GO:0030049 9.77 TTN MYH7 MYH6
17 muscle organ development GO:0007517 9.77 MYMK MSTN MEF2A IGF1 FHL1
18 regulation of heart rate GO:0002027 9.75 MYH7 MYH6 AGT
19 positive regulation of smooth muscle cell proliferation GO:0048661 9.73 MTOR IGF1 HDAC4 EDN1
20 response to insulin GO:0032868 9.72 NPPA MTOR LEP KLF15 FOXO1
21 skeletal muscle tissue regeneration GO:0043403 9.71 MYMK MTPN MSTN
22 cardiac muscle contraction GO:0060048 9.71 TTN MYH7 MYH6 MTOR
23 positive regulation of lamellipodium assembly GO:0010592 9.7 MTOR MSTN HDAC4
24 cell growth involved in cardiac muscle cell development GO:0061049 9.69 NPPA AGT
25 response to muscle stretch GO:0035994 9.69 NPPA EDN1
26 regulation of gluconeogenesis GO:0006111 9.69 LEP FOXO1
27 energy reserve metabolic process GO:0006112 9.68 MTOR LEP
28 positive regulation of renal sodium excretion GO:0035815 9.68 EDN1 AGT
29 adult heart development GO:0007512 9.68 MYH7 MYH6
30 cardiac muscle fiber development GO:0048739 9.67 TTN MYH6
31 response to transforming growth factor beta GO:0071559 9.66 SMAD4 EDN1
32 cardiac muscle hypertrophy GO:0003300 9.66 TTN LEP
33 artery smooth muscle contraction GO:0014824 9.65 EDN1 AGT
34 negative regulation of smooth muscle cell apoptotic process GO:0034392 9.65 IGF1 EDN1
35 striated muscle contraction GO:0006941 9.65 TTN MYH7 MYH6
36 regulation of blood pressure GO:0008217 9.65 NPPA MYH6 LEP EDN1 AGT
37 positive regulation of follicle-stimulating hormone secretion GO:0046881 9.64 SMAD4 LEP
38 bone mineralization involved in bone maturation GO:0035630 9.64 LEP IGF1
39 positive regulation of cell growth involved in cardiac muscle cell development GO:0061051 9.63 MTOR IGF1 EDN1
40 regulation of brown fat cell differentiation GO:0090335 9.62 MTOR LEP
41 positive regulation of luteinizing hormone secretion GO:0033686 9.61 SMAD4 LEP
42 positive regulation of skeletal muscle hypertrophy GO:1904206 9.55 MYMK MTOR
43 positive regulation of cardiac muscle hypertrophy GO:0010613 9.35 MTPN MEF2A IGF1 EDN1 AGT
44 cardiac muscle hypertrophy in response to stress GO:0014898 9.1 NPPA MYH7 MYH6 KLF15 HDAC4 GATA6

Molecular functions related to Muscle Hypertrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.36 TTN SMAD4 NPPA MYOC MYH7 MYH6
2 chromatin binding GO:0003682 9.83 SMAD4 MEF2A HDAC4 GATA6 FOXO1
3 sequence-specific DNA binding GO:0043565 9.8 SMAD4 MTPN MEF2A HDAC4 GATA6 FOXO1
4 transcription regulatory region sequence-specific DNA binding GO:0000976 9.65 SMAD4 MEF2A KLF15 HDAC4 GATA6
5 protein kinase binding GO:0019901 9.63 TTN MYH6 MTOR MEF2A HDAC4 GATA6
6 RNA polymerase II transcription factor binding GO:0001085 9.54 SMAD4 MEF2A HDAC4
7 transcription regulatory region DNA binding GO:0044212 9.35 SMAD4 MEF2A KLF15 HDAC4 GATA6
8 hormone activity GO:0005179 9.02 NPPA LEP IGF1 EDN1 AGT

Sources for Muscle Hypertrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....