MSLHP
MCID: MSC007
MIFTS: 65

Muscle Hypertrophy (MSLHP)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Muscle Hypertrophy

MalaCards integrated aliases for Muscle Hypertrophy:

Name: Muscle Hypertrophy 57 74 29 13 6
Hypertrophy 44 17 72
Mslhp 57 74
Myostatin-Related Muscle Hypertrophy 59
Hypertrophy, Muscle 40

Characteristics:

Orphanet epidemiological data:

59
myostatin-related muscle hypertrophy
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

HPO:

32
muscle hypertrophy:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614160
UMLS via Orphanet 73 C2931112
Orphanet 59 ORPHA275534
UMLS 72 C0020564

Summaries for Muscle Hypertrophy

UniProtKB/Swiss-Prot : 74 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 cardiomyopathy, familial hypertrophic, 1 and sleep apnea, 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 AMP-activated Protein Kinase (AMPK) Signaling. The drugs Alfuzosin and Azathioprine 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 : 75 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 1514)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, familial hypertrophic, 1 33.2 TTN MYH7 MYH6
2 sleep apnea 30.6 LEP IGF1 EDN1
3 hypertrophic cardiomyopathy 29.8 TTN MYH7 MYH6 FHL1
4 atrial standstill 1 29.5 TTN MYH7 MYH6
5 scapuloperoneal myopathy 29.4 MYH7 MYH6 FHL1
6 aortic valve disease 2 29.4 NPPA MYH7 AGT
7 arteries, anomalies of 29.3 LEP EDN1 AGT
8 hypertension, essential 29.2 NPPA LEP EDN1 AGT
9 hypoplastic left heart syndrome 29.2 NPPA MYH6 LEP
10 familial isolated dilated cardiomyopathy 29.1 TTN MYH7 MYH6
11 malignant hypertension 29.0 NPPA EDN1 AGT
12 autosomal dominant polycystic kidney disease 28.9 MTOR IGF1 EDN1 AGT
13 muscular disease 28.6 TTN MYH7 MYH6 MSTN IGF1 FOXO1
14 body mass index quantitative trait locus 11 28.2 MTOR MSTN LEP IGF1 AGT
15 congestive heart failure 28.2 NPPA MYH7 MYH6 EDN1
16 diabetes mellitus 28.1 MTOR LEP IGF1 GATA6 EDN1 AGT
17 heart disease 28.1 TTN NPPA MYH7 MYH6 MEF2A IGF1
18 pre-eclampsia 28.1 NPPA LEP EDN1 AGT
19 diabetes mellitus, noninsulin-dependent 27.6 LEP IGF1 FOXO1 EDN1 AGT
20 dilated cardiomyopathy 27.0 TTN NPPA MYH7 MYH6 MTPN MEF2A
21 myostatin-related muscle hypertrophy 12.9
22 adenoid hypertrophy 12.7
23 hypertrophy of breast 12.6
24 hypertrophy of the breast, juvenile 12.6
25 masticatory muscles, hypertrophy of 12.5
26 obsolete: congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome 12.4
27 gingival hypertrophy 12.4
28 kidney hypertrophy 12.3
29 hypertrophy of tongue papillae 12.3
30 upper limb hypertrophy 12.2
31 muscular hypertrophy-hepatomegaly-polyhydramnios syndrome 12.1
32 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome 12.1
33 obsolete: eyelashes hypertrophy 12.1
34 obsolete: eyebrow hypertrophy 12.1
35 hemifacial hyperplasia 12.1
36 klippel-trenaunay-weber syndrome 12.0
37 tetralogy of fallot 12.0
38 gigantomastia 11.9
39 hyperostosis 11.9
40 gastritis, familial giant hypertrophic 11.8
41 rutherfurd syndrome 11.4
42 hemihyperplasia, isolated 11.4
43 cardiomyopathy, familial hypertrophic, 6 11.4
44 myotonia congenita, autosomal dominant 11.4
45 winchester syndrome 11.4
46 rippling muscle disease 2 11.4
47 cowden syndrome 1 11.4
48 acanthosis nigricans with muscle cramps and acral enlargement 11.4
49 muscular dystrophy-dystroglycanopathy , type a, 1 11.4
50 hemifacial myohyperplasia 11.4

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:

32
# Description HPO Frequency HPO Source Accession
1 skeletal muscle hypertrophy 32 HP:0003712

Clinical features from OMIM:

614160

UMLS symptoms related to Muscle Hypertrophy:


seizures, fever, dyspnea, edema, cachexia, vertigo, headache, syncope, hepatosplenomegaly, cyanosis, 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:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.36 AGT EDN1 FHL1 FOXO1 GATA6 IGF1
2 growth/size/body region MP:0005378 10.28 AGT EDN1 FHL1 FOXO1 GATA6 HDAC4
3 behavior/neurological MP:0005386 10.26 AGT FHL1 FOXO1 HDAC4 LEP MEF2A
4 homeostasis/metabolism MP:0005376 10.25 AGT EDN1 FHL1 FOXO1 GATA6 IGF1
5 muscle MP:0005369 10.21 AGT EDN1 FHL1 FOXO1 GATA6 HDAC4
6 mortality/aging MP:0010768 10.2 AGT EDN1 FOXO1 GATA6 HDAC4 IGF1
7 adipose tissue MP:0005375 10.04 AGT FOXO1 IGF1 KLF15 LEP MSTN
8 liver/biliary system MP:0005370 9.97 AGT FOXO1 GATA6 KLF15 LEP MSTN
9 normal MP:0002873 9.81 EDN1 FOXO1 GATA6 IGF1 MEF2A MTOR
10 renal/urinary system MP:0005367 9.61 AGT EDN1 IGF1 KLF15 LEP MSTN
11 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 554)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Alfuzosin Approved, Investigational Phase 4 81403-80-7 2092
2
Azathioprine Approved Phase 4 446-86-6 2265
3
Silicon Approved, Investigational Phase 4 7440-21-3 4082203
4
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
5
Trandolapril Approved Phase 4 87679-37-6 5484727
6
Iloprost Approved, Investigational Phase 4 78919-13-8 6443959
7
Saxagliptin Approved Phase 4 361442-04-8 11243969
8
Cobicistat Approved Phase 4 1004316-88-4
9
Rilpivirine Approved Phase 4 500287-72-9
10
Darunavir Approved Phase 4 206361-99-1, 635728-49-3 213039
11
Imiquimod Approved, Investigational Phase 4 99011-02-6 57469
12
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
13
Benazepril Approved, Investigational Phase 4 86541-75-5 5362124
14
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
15
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
16
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
17
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
18
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
19
Lisinopril Approved, Investigational Phase 4 83915-83-7, 76547-98-3 5362119
20
Atenolol Approved Phase 4 29122-68-7 2249
21
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
22
Enalaprilat Approved Phase 4 76420-72-9 6917719
23
Dutasteride Approved, Investigational Phase 4 164656-23-9 152945 6918296
24
Doxazosin Approved Phase 4 74191-85-8 3157
25
Silodosin Approved Phase 4 160970-54-7
26
Acarbose Approved, Investigational Phase 4 56180-94-0 441184
27
Calcium carbonate Approved, Investigational Phase 4 471-34-1
28
Captopril Approved Phase 4 62571-86-2 44093
29
Metformin Approved Phase 4 657-24-9 4091 14219
30
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
31
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
32
Canagliflozin Approved Phase 4 842133-18-0
33
Clobetasol Approved, Experimental, Investigational Phase 4 25122-46-7, 25122-41-2 32798 5311051
34
Petrolatum Approved, Investigational Phase 4 8009-03-8
35
Perindopril Approved Phase 4 107133-36-8, 82834-16-0 107807
36
Dihydrotachysterol Approved Phase 4 67-96-9 5311071 5281010
37
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
38
Ramipril Approved Phase 4 87333-19-5 5362129
39
Dexlansoprazole Approved, Investigational Phase 4 103577-45-3, 138530-94-6 9578005
40
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
41
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 444025 9865442
42
Bepotastine Approved Phase 4 125602-71-3, 190786-44-8 2350
43
Lercanidipine Approved, Investigational Phase 4 100427-26-7 65866
44
Glyburide Approved Phase 4 10238-21-8 3488
45
Olmesartan Approved, Investigational Phase 4 144689-63-4, 144689-24-7 130881 158781
46
Alendronate Approved Phase 4 66376-36-1, 121268-17-5 2088
47
Quinapril Approved, Investigational Phase 4 85441-61-8 54892
48
Manidipine Approved, Investigational Phase 4 89226-50-6
49
Mivacurium Approved Phase 4 133814-19-4, 106791-40-6 5281042
50
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290

Interventional clinical trials:

(show top 50) (show all 1182)
# 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 Effects of Everolimus in Left Ventricular Hypertrophy After Conversion From Azathioprine: A Pilot Study Unknown status NCT02493465 Phase 4 Everolimus
3 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
4 Mitigating Cardiac Inflammation and Oxidative Stress in Atrial Myocardium Via Short-term Lovaza Treatment Prior to Surgery Unknown status NCT01046604 Phase 4 Lovaza group
5 Randomized Controlled Study of Plasmaknife Tonsillectomy Versus Monopolar Tonsillectomy Unknown status NCT00466544 Phase 4
6 Antihypertensive Treatment in Masked Hypertension for Target Organ Protection Unknown status NCT02893358 Phase 4 Allisartan Isoproxil;Placebo
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 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)
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 Topical Tacrolimus in Vernal Keratoconjunctivitis Unknown status NCT02456025 Phase 4 Topical tacrolimus
11 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
12 Effects of Spironolactone on Collagen Metabolism in Pulmonary Arterial Hypertension Unknown status NCT01468571 Phase 4 Spironolactone;Placebo
13 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
14 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Unknown status NCT00879060 Phase 4 spironolactone
15 Assessment of the Effects of the Combination of Spironolactone to Conventional Pharmacotherapy in Dialysis Patients Unknown status NCT01128101 Phase 4 Spironolactone
16 A Randomized, Double-blind, Placebo-controlled Study of Dexlansoprazole to Treat Laryngopharyngeal Reflux and Lingual Tonsil Hypertrophy Unknown status NCT01328652 Phase 4 dexlansoprazole
17 Effect of Renal deNervation on Arterial Stiffness and Haemodynamics in Patients With UncontRolled hypErtension (ENSURE) Unknown status NCT02102126 Phase 4
18 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
19 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
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 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
23 Effects of Atorvastatin Treatment on Left Ventricular Diastolic Function in Peritoneal Dialysis Patients (ALEVENT) Unknown status NCT01503671 Phase 4 Atorvastatin
24 The Efficacy of Alpha-blockers for Expulsion of Distal Ureteral Stones Unknown status NCT00451061 Phase 4 Alfuzosin;Tamsulosin
25 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
26 Inhaled Iloprost for Disproportionate Pulmonary Hypertension in Chronic Obstructive Pulmonary Disease Unknown status NCT01116063 Phase 4 Inhaled iloprost
27 Pre-hYpertension tReament With A coMbinatIon of Dietary Supplements and Life-style Modifications Unknown status NCT01682291 Phase 4
28 SCARF: Saxagliptin on CArdiac StRucture and Function Unknown status NCT02481479 Phase 4 Saxagliptin;Saxagliptin;saxagliptin
29 Safety and Efficacy of Angiotensin Receptor Blocker, Fimasartan, on Patients With Aortic Stenosis Unknown status NCT01589380 Phase 4 Fimasartan;Placebo
30 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
31 An Investigator-Initiated Study to Assess the Safety and Efficacy of Imiquimod 3.75% Cream When Used After Cryotherapy in the Treatment of Hypertrophic Actinic Keratoses (AK) on Dorsal Hands and Forearms Unknown status NCT01229319 Phase 4 Cryotherapy alone to Left arm plus cryotherapy + imiquimod to Right arm;Cryotherapy alone to Left arm plus cryotherapy + imiquimod to Right arm
32 Prospective Evaluation of Xeomin Cosmetic in the Management of the Masseter Using Two Different Injection Techniques Completed NCT03376464 Phase 4
33 Effect of Valsartan on Left Ventricular Myocardial Functions in Hypertensive Patients With Left Ventricular Hypertrophy Completed NCT01425411 Phase 4 valsartan
34 Effects of Amlodipine/Benazepril in Reducing Left Ventricular Hypertrophy in Patients With High Risk Hypertension Completed NCT00139555 Phase 4 amlodipine/benazepril
35 Left Ventricular Hypertrophy and Spironolactone in End Stage Renal Disease Completed NCT00548912 Phase 4 Spironolactone
36 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
37 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
38 Irbesartan In Hypertensive Patients With Left Ventricular Hypertrophy Completed NCT00362037 Phase 4 Irbesartan (Aprovel)
39 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
40 Do Xanthine Oxidase Inhibitors Reduce Both Left Ventricular Hypertrophy and Endothelial Dysfunction in Cardiovascular Patients With Renal Dysfunction? Completed NCT00688480 Phase 4 Placebo;Allopurinol
41 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
42 Glutamate Infusion in Hypertrophied Ventricle After Aortic Valve Replacement - a Randomized Trial Completed NCT01144039 Phase 4 LG-group;HG-group;Placebo-group
43 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
44 A Pilot Study to Evaluate the Efficacy of Total Parathyroidectomy in Retarding Cardiovascular Calcification in End-stage Renal Disease Patients Completed NCT00745719 Phase 4
45 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
46 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)
47 Impacts of Aldosterone Blockade on Myocardial Remodeling in Hypertensive Patients With Diastolic Failing Heart Completed NCT01944384 Phase 4 aldactone
48 The "ALiskiren or Losartan Effects on bioMARKers of Myocardial Remodeling (ALLMARK)" Study Completed NCT01176032 Phase 4 Aliskiren;Losartan;Amlodipine;Hydrochlorothiazide (HCTZ)
49 Effects of Strict Volume Control in Hypertensive Hemodialysis Patients on Cardiac Structure and Chronic Inflammation: a Randomised, Prospective and Controlled Study Completed NCT00307463 Phase 4
50 Remote Ischemic Preconditioning Induces Myocardial RISK Signaling Pathway in Patients Undergoing Valvular Heart Surgery Completed NCT01946087 Phase 4

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:

41
Skeletal Muscle, Heart, Prostate, Kidney, Smooth Muscle, Liver, Endothelial

Publications for Muscle Hypertrophy

Articles related to Muscle Hypertrophy:

(show top 50) (show all 3757)
# Title Authors PMID Year
1
Myostatin mutation associated with gross muscle hypertrophy in a child. 9 38 8 71
15215484 2004
2
Myostatin mutation associated with gross muscle hypertrophy in a child. 9 38 8
15342814 2004
3
A mutation in the myostatin gene increases muscle mass and enhances racing performance in heterozygote dogs. 8
17530926 2007
4
A mutation creating a potential illegitimate microRNA target site in the myostatin gene affects muscularity in sheep. 8
16751773 2006
5
Double muscling in Marchigiana beef breed is caused by a stop codon in the third exon of myostatin gene. 8
12879361 2003
6
Myostatin knockout in mice increases myogenesis and decreases adipogenesis. 8
11855847 2002
7
A deletion in the myostatin gene causes the compact (Cmpt) hypermuscular mutation in mice. 8
9680391 1998
8
A deletion in the bovine myostatin gene causes the double-muscled phenotype in cattle. 8
9288100 1997
9
Regulation of skeletal muscle mass in mice by a new TGF-beta superfamily member. 8
9139826 1997
10
The mh gene causing double-muscling in cattle maps to bovine Chromosome 2. 8
8597635 1995
11
Pulmonary artery smooth muscle hypertrophy: roles of glycogen synthase kinase-3beta and p70 ribosomal S6 kinase. 9 38
20190034 2010
12
p70 Ribosomal S6 kinase is required for airway smooth muscle cell size enlargement but not increased contractile protein expression. 9 38
19648476 2010
13
Coordinated increase in skeletal muscle fiber area and expression of IGF-I with resistance exercise in elderly post-operative patients. 9 38
20031461 2010
14
Muscle hypertrophy and increased expression of leptin receptors in the musculus triceps brachii of the dominant arm in professional tennis players. 9 38
20187280 2010
15
Calmodulin kinase II is required for angiotensin II-mediated vascular smooth muscle hypertrophy. 9 38
20023119 2010
16
Exercise does not influence myostatin and follistatin messenger RNA expression in young women. 9 38
20124796 2010
17
Exercise and the growth hormone-insulin-like growth factor axis. 9 38
20010129 2010
18
Cycle training increased GLUT4 and activation of mammalian target of rapamycin in fast twitch muscle fibers. 9 38
20010125 2010
19
Involvement of PI3K/Akt/TOR pathway in stretch-induced hypertrophy of myotubes. 9 38
19768770 2010
20
Effects of high-intensity resistance training in patients with rheumatoid arthritis: a randomized controlled trial. 9 38
19950325 2009
21
Ca2+/calmodulin-dependent transcriptional pathways: potential mediators of skeletal muscle growth and development. 9 38
19725819 2009
22
Inducible activation of Akt increases skeletal muscle mass and force without satellite cell activation. 9 38
19661286 2009
23
Extraocular muscle hypertrophy in myotonia congenita: Mutation identified in the SCN4A gene (V445M). 9 38
19840739 2009
24
The adaptive responses in several mediators linked with hypertrophy and atrophy of skeletal muscle after lower limb unloading in humans. 9 38
19432591 2009
25
Muscle hypertrophy driven by myostatin blockade does not require stem/precursor-cell activity. 9 38
19383783 2009
26
Atrogin-1/MAFbx enhances simulated ischemia/reperfusion-induced apoptosis in cardiomyocytes through degradation of MAPK phosphatase-1 and sustained JNK activation. 9 38
19117950 2009
27
Muscle expressions of MGF, IGF-IEa, and myostatin in intact and hypophysectomized rats: effects of rhGH and testosterone alone or combined. 9 38
18841527 2009
28
Regulation of mTOR signaling in skeletal muscle hypertrophy. 9 38
19147966 2008
29
Gene doping: the hype and the reality. 9 38
18500383 2008
30
Growth factors, muscle function and doping. 9 38
18353722 2008
31
Inhibition of glycogen synthase kinase-3beta is sufficient for airway smooth muscle hypertrophy. 9 38
18252708 2008
32
PGF2alpha-associated vascular smooth muscle hypertrophy is ROS dependent and involves the activation of mTOR, p70S6k, and PTEN. 9 38
18160324 2008
33
Muscle-specific overexpression of the type 1 IGF receptor results in myoblast-independent muscle hypertrophy via PI3K, and not calcineurin, signaling. 9 38
17940216 2007
34
The influence of eccentric exercise on mRNA expression of skeletal muscle regulators. 9 38
17661068 2007
35
Extracellular signal-regulated kinase pathway is differentially involved in beta-agonist-induced hypertrophy in slow and fast muscles. 9 38
17151143 2007
36
IL-13 mediates the recruitment of reserve cells for fusion during IGF-1-induced hypertrophy of human myotubes. 9 38
17264150 2007
37
Skeletal muscle IL-4, IL-4Ralpha, IL-13 and IL-13Ralpha1 expression and response to strength training. 9 38
18198661 2007
38
mTOR pathway as a target in tissue hypertrophy. 9 38
16968213 2007
39
The ABCs of IGF-I isoforms: impact on muscle hypertrophy and implications for repair. 9 38
17213901 2006
40
Skeletal muscle stem cells: a symposium. 9 38
17213898 2006
41
Ectopic insulin-like growth factor I expression in avian skeletal muscle prevents expression of CMD4, a novel inhibitor of differentiation. 9 38
16423499 2006
42
Akt signalling through GSK-3beta, mTOR and Foxo1 is involved in human skeletal muscle hypertrophy and atrophy. 9 38
16916907 2006
43
Local changes in the insulin-like growth factor system in human skeletal muscle assessed by microdialysis and arterio-venous differences technique. 9 38
16904923 2006
44
Transforming growth factor-beta induces airway smooth muscle hypertrophy. 9 38
16239645 2006
45
Prevention and treatment of cancer cachexia: new insights into an old problem. 9 38
16314085 2006
46
Myostatin: a modulator of skeletal-muscle stem cells. 9 38
16246158 2005
47
Molecular mechanisms involving IGF-1 and myostatin to induce muscle hypertrophy as a therapeutic strategy for Duchenne muscular dystrophy. 9 38
16629058 2005
48
mTOR function in skeletal muscle hypertrophy: increased ribosomal RNA via cell cycle regulators. 9 38
16079186 2005
49
Muscle regeneration through myostatin inhibition. 9 38
16224249 2005
50
The biological function of insulin-like growth factor-I in myogenesis and its therapeutic effect on muscular dystrophy. 9 38
16550928 2005

Variations for Muscle Hypertrophy

ClinVar genetic disease variations for Muscle Hypertrophy:

6 (show all 34)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MSTN NM_005259.3(MSTN): c.373+5G> A single nucleotide variant Pathogenic rs397515373 2:190926945-190926945 2:190062219-190062219
2 MSTN NM_005259.3(MSTN): c.263G> A (p.Arg88Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138343163 2:190927060-190927060 2:190062334-190062334
3 MSTN NM_005259.3(MSTN): c.*121A> G single nucleotide variant Uncertain significance rs886055372 2:190921863-190921863 2:190057137-190057137
4 MSTN NM_005259.3(MSTN): c.1062T> C (p.Asn354=) single nucleotide variant Uncertain significance rs761053215 2:190922050-190922050 2:190057324-190057324
5 MSTN NM_005259.3(MSTN): c.-17A> C single nucleotide variant Uncertain significance rs201887141 2:190927339-190927339 2:190062613-190062613
6 MSTN NM_005259.3(MSTN): c.*41G> T single nucleotide variant Uncertain significance rs762191502 2:190921943-190921943 2:190057217-190057217
7 MSTN NM_005259.3(MSTN): c.551C> T (p.Thr184Ile) single nucleotide variant Uncertain significance rs369290669 2:190924984-190924984 2:190060258-190060258
8 MSTN NM_005259.3(MSTN): c.748-3C> T single nucleotide variant Uncertain significance rs374256136 2:190922367-190922367 2:190057641-190057641
9 MSTN NM_005259.3(MSTN): c.*923T> C single nucleotide variant Uncertain significance rs886055371 2:190921061-190921061 2:190056335-190056335
10 MSTN NM_005259.3(MSTN): c.*1073G> T single nucleotide variant Uncertain significance rs886055370 2:190920911-190920911 2:190056185-190056185
11 MSTN NM_005259.3(MSTN): c.*1450T> C single nucleotide variant Likely benign rs144167726 2:190920534-190920534 2:190055808-190055808
12 MSTN NM_005259.3(MSTN): c.*273C> G single nucleotide variant Likely benign rs150145410 2:190921711-190921711 2:190056985-190056985
13 MSTN NM_005259.3(MSTN): c.*259A> G single nucleotide variant Likely benign rs578136956 2:190921725-190921725 2:190056999-190056999
14 MSTN NM_005259.3(MSTN): c.*574G> A single nucleotide variant Likely benign rs114597606 2:190921410-190921410 2:190056684-190056684
15 MSTN NM_005259.3(MSTN): c.490G> A (p.Glu164Lys) single nucleotide variant Likely benign rs35781413 2:190925045-190925045 2:190060319-190060319
16 MSTN NM_005259.3(MSTN): c.180C> T (p.Ile60=) single nucleotide variant Likely benign rs35321585 2:190927143-190927143 2:190062417-190062417
17 MSTN NM_005259.3(MSTN): c.466C> A (p.Leu156Ile) single nucleotide variant Likely benign rs35493945 2:190925069-190925069 2:190060343-190060343
18 MSTN NM_005259.3(MSTN): c.*1362A> G single nucleotide variant Likely benign rs377503267 2:190920622-190920622 2:190055896-190055896
19 MSTN NM_005259.3(MSTN): c.*697T> C single nucleotide variant Likely benign rs186458339 2:190921287-190921287 2:190056561-190056561
20 MSTN NM_005259.3(MSTN): c.386T> G (p.Met129Arg) single nucleotide variant Likely benign rs142195885 2:190925149-190925149 2:190060423-190060423
21 MSTN NM_005259.3(MSTN): c.306C> T (p.Ser102=) single nucleotide variant Likely benign rs34191156 2:190927017-190927017 2:190062291-190062291
22 MSTN NM_005259.3(MSTN): c.674T> C (p.Ile225Thr) single nucleotide variant Likely benign rs143242500 2:190924861-190924861 2:190060135-190060135
23 MSTN NM_005259.3(MSTN): c.*1145del deletion Likely benign rs199602321 2:190920839-190920839 2:190056113-190056113
24 MSTN NM_005259.3(MSTN): c.-44_-42GAA[1] short repeat Likely benign rs772646099 2:190927361-190927363 2:190062635-190062637
25 MSTN NM_005259.3(MSTN): c.*290C> T single nucleotide variant Likely benign rs537956645 2:190921694-190921694 2:190056968-190056968
26 MSTN NM_005259.3(MSTN): c.*135G> A single nucleotide variant Benign rs60490864 2:190921849-190921849 2:190057123-190057123
27 MSTN NM_005259.3(MSTN): c.*395A> C single nucleotide variant Benign rs16823986 2:190921589-190921589 2:190056863-190056863
28 MSTN NM_005259.3(MSTN): c.*742C> T single nucleotide variant Benign rs72909336 2:190921242-190921242 2:190056516-190056516
29 MSTN NM_005259.3(MSTN): c.*1203G> C single nucleotide variant Benign rs3187415 2:190920781-190920781 2:190056055-190056055
30 MSTN NM_005259.3(MSTN): c.*1332A> G single nucleotide variant Benign rs3791782 2:190920652-190920652 2:190055926-190055926
31 MSTN NM_005259.3(MSTN): c.*493G> A single nucleotide variant Benign rs16832285 2:190921491-190921491 2:190056765-190056765
32 MSTN NM_005259.3(MSTN): c.458A> G (p.Lys153Arg) single nucleotide variant Benign rs1805086 2:190925077-190925077 2:190060351-190060351
33 MSTN NM_005259.3(MSTN): c.163G> A (p.Ala55Thr) single nucleotide variant Benign rs1805085 2:190927160-190927160 2:190062434-190062434
34 MSTN NM_005259.3(MSTN): c.*1514C> G single nucleotide variant Benign rs12105165 2:190920470-190920470 2:190055744-190055744

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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.66 MTOR MEF2A IGF1 EDN1 AGT
2
Show member pathways
12.18 MTOR LEP IGF1 HDAC4 FOXO1
3
Show member pathways
12.03 TTN MYH7 MYH6 IGF1
4
Show member pathways
11.93 MTOR MEF2A IGF1 HDAC4
5 11.87 SMAD4 MTOR MEF2A HDAC4
6 11.78 MTOR IGF1 FOXO1
7 11.75 SMAD4 MTOR IGF1
8 11.71 SMAD4 FOXO1 EDN1
9 11.67 SMAD4 MTOR FOXO1
10 11.6 NPPA MTOR IGF1 EDN1
11 11.55 MEF2A LEP KLF15 IGF1 FOXO1 AGT
12 11.48 SMAD4 LEP EDN1
13
Show member pathways
11.37 NPPA MTOR MEF2A IGF1 HDAC4 EDN1
14 11.07 MTOR MSTN IGF1
15
Show member pathways
10.91 MTOR IGF1 EDN1
16 10.67 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 myosin filament GO:0032982 9.32 MYH7 MYH6
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
5 cytoplasm GO:0005737 10 TTN SMAD4 NPPA MYH7 MYH6 MTPN

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

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.95 SMAD4 MYH6 GATA6 EDN1
2 response to hypoxia GO:0001666 9.94 SMAD4 NPPA LEP EDN1
3 negative regulation of cell growth GO:0030308 9.88 SMAD4 NPPA FHL1 AGT
4 female pregnancy GO:0007565 9.85 NPPA LEP AGT
5 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.84 MTOR IGF1 AGT
6 cellular response to mechanical stimulus GO:0071260 9.83 NPPA MTPN HDAC4 AGT
7 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.81 IGF1 EDN1 AGT
8 positive regulation of transcription, DNA-templated GO:0045893 9.81 SMAD4 MSTN MEF2A KLF15 IGF1 HDAC4
9 response to insulin GO:0032868 9.8 NPPA MTOR LEP FOXO1
10 response to activity GO:0014823 9.79 MTOR LEP EDN1
11 positive regulation of nitric oxide biosynthetic process GO:0045429 9.79 MTOR EDN1 AGT
12 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.78 MYOC LEP IGF1 AGT
13 muscle filament sliding GO:0030049 9.77 TTN MYH7 MYH6
14 regulation of heart rate GO:0002027 9.77 MYH7 MYH6 AGT
15 positive regulation of glucose import GO:0046326 9.76 MEF2A KLF15 IGF1
16 skeletal muscle tissue regeneration GO:0043403 9.72 MYMK MTPN MSTN
17 muscle organ development GO:0007517 9.72 MYMK MSTN MEF2A IGF1 FHL1
18 positive regulation of lamellipodium assembly GO:0010592 9.71 MTOR MSTN HDAC4
19 positive regulation of smooth muscle cell proliferation GO:0048661 9.71 MTOR IGF1 HDAC4 EDN1
20 cardiac muscle tissue development GO:0048738 9.7 MTOR GATA6
21 vasoconstriction GO:0042310 9.69 EDN1 AGT
22 response to muscle stretch GO:0035994 9.69 NPPA EDN1
23 cell growth involved in cardiac muscle cell development GO:0061049 9.69 NPPA AGT
24 regulation of blood vessel size GO:0050880 9.69 NPPA EDN1 AGT
25 cardiac muscle fiber development GO:0048739 9.68 TTN MYH6
26 energy reserve metabolic process GO:0006112 9.68 MTOR LEP
27 adult heart development GO:0007512 9.68 MYH7 MYH6
28 positive regulation of renal sodium excretion GO:0035815 9.67 EDN1 AGT
29 cardiac muscle contraction GO:0060048 9.67 TTN MYH7 MYH6 MTOR
30 response to transforming growth factor beta GO:0071559 9.66 SMAD4 EDN1
31 cardiac muscle hypertrophy GO:0003300 9.66 TTN LEP
32 artery smooth muscle contraction GO:0014824 9.65 EDN1 AGT
33 negative regulation of smooth muscle cell apoptotic process GO:0034392 9.65 IGF1 EDN1
34 regulation of blood pressure GO:0008217 9.65 NPPA MYH6 LEP EDN1 AGT
35 positive regulation of follicle-stimulating hormone secretion GO:0046881 9.64 SMAD4 LEP
36 regulation of brown fat cell differentiation GO:0090335 9.63 MTOR LEP
37 striated muscle contraction GO:0006941 9.63 TTN MYH7 MYH6
38 bone mineralization involved in bone maturation GO:0035630 9.62 LEP IGF1
39 positive regulation of luteinizing hormone secretion GO:0033686 9.61 SMAD4 LEP
40 positive regulation of cell growth involved in cardiac muscle cell development GO:0061051 9.61 MTOR IGF1 EDN1
41 positive regulation of cardiac muscle hypertrophy GO:0010613 9.35 MTPN MEF2A IGF1 EDN1 AGT
42 cardiac muscle hypertrophy in response to stress GO:0014898 9.1 NPPA MYH7 MYH6 KLF15 HDAC4 GATA6
43 positive regulation of transcription by RNA polymerase II GO:0045944 10.16 SMAD4 MEF2A KLF15 IGF1 HDAC4 GATA6
44 negative regulation of transcription by RNA polymerase II GO:0000122 10.11 SMAD4 MEF2A LEP HDAC4 GATA6 FOXO1
45 positive regulation of cell proliferation GO:0008284 10.07 LEP IGF1 HDAC4 EDN1 AGT

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.77 SMAD4 MEF2A KLF15 HDAC4 GATA6
2 chromatin binding GO:0003682 9.72 SMAD4 MEF2A HDAC4 GATA6 FOXO1
3 transcription regulatory region DNA binding GO:0044212 9.71 SMAD4 KLF15 HDAC4 GATA6
4 sequence-specific DNA binding GO:0043565 9.63 SMAD4 MTPN MEF2A HDAC4 GATA6 FOXO1
5 actin-dependent ATPase activity GO:0030898 9.43 MYH7 MYH6
6 RNA polymerase II transcription factor binding GO:0001085 9.43 SMAD4 MEF2A HDAC4
7 protein kinase binding GO:0019901 9.43 TTN MYH6 MTOR MEF2A 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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