Muscle Hypertrophy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MSLHP MCID: MSC007 MIFTS: 59	Muscle Hypertrophy (MSLHP) Categories: Genetic diseases, Muscle diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Muscle Hypertrophy

MalaCards integrated aliases for Muscle Hypertrophy:

Name: Muscle Hypertrophy ⁵⁷ ⁷³ ⁵ ⁷⁵

Mslhp ⁵⁷ ⁷³

Hypertrophy, Muscle ³⁸

Hypertrophy ⁷¹

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
myoclonus in neonatal period
based on a report of one patient (last curated august 2021)

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Muscle diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 614160

MeSH ⁴³ D006984 D009135

MedGen ⁴⁰ C0236033 CN069079

UMLS ⁷¹ C0020564

Sources

Summaries for Muscle Hypertrophy

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

MalaCards based summary: Muscle Hypertrophy, also known as mslhp, is related to myostatin-related muscle hypertrophy and muscular dystrophy, limb-girdle, autosomal recessive 6, and has symptoms including fever, dyspnea and vertigo. An important gene associated with Muscle Hypertrophy is MSTN (Myostatin), and among its related pathways/superpathways are Signal Transduction and Prolactin Signaling. The drugs Azathioprine and Sorbitol have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, prostate and heart, and related phenotypes are skeletal muscle hypertrophy and brisk reflexes

Wikipedia: ⁷⁵ Muscle hypertrophy or muscle building involves a hypertrophy or increase in size of skeletal muscle... more...

More information from OMIM: 614160

Sources

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 278)

#	Related Disease	Score	Top Affiliating Genes
1	myostatin-related muscle hypertrophy	32.7	MSTN C2orf88
2	muscular dystrophy, limb-girdle, autosomal recessive 6	31.5	TTN FKRP
3	muscular atrophy	30.6	TTN MTOR MSTN LEP
4	insulin-like growth factor i	30.6	MAPK1 LEP IGF1
5	muscular dystrophy, becker type	30.2	TTN MYOD1 MSTN FKRP
6	muscular dystrophy	30.1	TTN MYOD1 MSTN IGF1 HDAC4 FKRP
7	uruguay faciocardiomusculoskeletal syndrome	30.0	MSTN FHL1
8	hypertrophic cardiomyopathy	29.9	TTN SRF MYOD1 MEF2A MAPK1 IGF1
9	neuromuscular disease	29.8	TTN SCN4A MYOD1 MSTN FKRP FBXO32
10	myopathy	29.8	TTN SCN4A MYOD1 MSTN IGF1 FKRP
11	limb-girdle muscular dystrophy	29.7	TTN MYOD1 MSTN FKRP
12	emery-dreifuss muscular dystrophy	29.7	TTN MYOD1 FKRP FHL1
13	peripheral nervous system disease	29.4	TTN SCN4A MYOD1 MYOC MTOR LEP
14	type 2 diabetes mellitus	28.9	RPS6KB1 MYOD1 MTOR MSTN MEF2A MAPK1
15	masticatory muscles, hypertrophy of	11.2
16	myopathy, x-linked, with postural muscle atrophy	11.1
17	muscular dystrophy, congenital, 1b	11.1
18	myhre syndrome	11.0
19	leri-weill dyschondrosteosis	10.9
20	myopathy, myofibrillar, 9, with early respiratory failure	10.9
21	rippling muscle disease 2	10.9
22	muscular dystrophy-dystroglycanopathy , type b, 5	10.9
23	muscular dystrophy-dystroglycanopathy , type c, 7	10.9
24	cardiomyopathy, dilated, 2g	10.9
25	congenital generalized lipodystrophy	10.9
26	congenital muscular dystrophy with cerebellar involvement	10.9
27	radiculopathy	10.3
28	hutterite cerebroosteonephrodysplasia syndrome	10.3
29	foot drop	10.3	TTN FHL1
30	cardiomyopathy, familial hypertrophic, 1	10.3
31	neuropathy	10.3
32	limb-girdle muscular dystrophy type 1a	10.3	TTN FKRP
33	muscular dystrophy, limb-girdle, autosomal recessive 7	10.2	TTN FKRP
34	myotonia	10.2
35	muscular dystrophy, limb-girdle, autosomal recessive 4	10.2	TTN FKRP
36	muscular dystrophy, limb-girdle, autosomal recessive 8	10.2	TTN FKRP
37	rigid spine muscular dystrophy 1	10.2	TTN FKRP FHL1
38	hemifacial hyperplasia	10.2
39	rhabdomyosarcoma 2	10.2
40	bladder neck obstruction	10.2
41	bruxism	10.2
42	muscular dystrophy, duchenne type	10.1
43	marasmus	10.1	LEP IGF1
44	isolated elevated serum creatine phosphokinase levels	10.1	TTN SCN4A FKRP
45	myositis	10.1
46	scheie syndrome	10.1
47	myotonia congenita	10.1
48	episodic ataxia	10.1
49	spinal cord injury	10.1
50	myofibrillar myopathy	10.1	TTN FKRP FHL1

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

Sources

Symptoms & Phenotypes for Muscle Hypertrophy

Human phenotypes related to Muscle Hypertrophy:

³⁰

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	skeletal muscle hypertrophy ³⁰	Very rare (1%)		HP:0003712
2	brisk reflexes ³⁰	Very rare (1%)		HP:0001348

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Muscle Soft Tissue:
decreased subcutaneous fat
muscular appearance
muscular hypertrophy
increased muscle strength

Neurologic Central Nervous System:
stimulus-induced myoclonus
increased tendon reflexes

Clinical features from OMIM®:

614160 (Updated 08-Dec-2022)

UMLS symptoms related to Muscle Hypertrophy:

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

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

²⁵ (show all 18)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.2	C2orf88 CAMK2G FBXO32 FHL1 FKRP HDAC4
2	no effect	GR00402-S-2	10.2	C2orf88 CAMK2G FBXO32 FHL1 FKRP IGF1
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-105	9.93	MTOR
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-113	9.93	CAMK2G
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-130	9.93	MAPK1
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-139	9.93	MAPK1
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-145	9.93	CAMK2G
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-150	9.93	CAMK2G
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-189	9.93	RPS6KB1
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-194	9.93	RPS6KB1
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-26	9.93	RPS6KB1
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-50	9.93	RPS6KB1
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-60	9.93	CAMK2G MAPK1 MTOR RPS6KB1
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	9.93	CAMK2G MAPK1 MTOR RPS6KB1
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-96	9.93	CAMK2G
16	Decreased viability with paclitaxel	GR00179-A-1	9.85	MTOR RPS6KB1 IGF1
17	Decreased viability with paclitaxel	GR00179-A-2	9.85	MTOR IGF1
18	Decreased viability with paclitaxel	GR00179-A-3	9.85	MTOR RPS6KB1

MGI Mouse Phenotypes related to Muscle Hypertrophy:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	10.34	FBXO32 FHL1 FKRP HDAC4 IGF1 LEP
2	homeostasis/metabolism	MP:0005376	10.28	CAMK2G FHL1 FKRP HDAC4 IGF1 LEP
3	growth/size/body region	MP:0005378	10.24	FHL1 FKRP HDAC4 IGF1 LEP MAPK1
4	cardiovascular system	MP:0005385	10.1	FHL1 FKRP IGF1 LEP MAPK1 MEF2A
5	immune system	MP:0005387	10.07	C2orf88 CAMK2G FKRP HDAC4 IGF1 LEP
6	respiratory system	MP:0005388	9.76	IGF1 LEP MAPK1 MEF2A MTOR MYOD1
7	skeleton	MP:0005390	9.65	FKRP HDAC4 IGF1 LEP MAPK1 MSTN
8	mortality/aging	MP:0010768	9.5	CAMK2G FKRP HDAC4 IGF1 LEP MAPK1

Sources

Drugs & Therapeutics for Muscle Hypertrophy

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

(show top 50) (show all 351)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Azathioprine

Approved

Phase 4

446-86-6

2265

Sorbitol

Approved, Investigational

Phase 4

69-65-8, 50-70-4

453 6251 5780

Dexlansoprazole

Approved, Investigational

Phase 4

138530-94-6

9578005

Lansoprazole

Approved, Investigational

Phase 4

103577-45-3

3883

Sufentanil

Approved, Investigational

Phase 4

56030-54-7

41693

Silicon

Approved, Investigational

Phase 4

7440-21-3

4082203

Acetylcholine

Approved, Investigational

Phase 4

51-84-3

187

Lidocaine

Approved, Vet_approved

Phase 4

137-58-6

3676

Allopurinol

Approved

Phase 4

315-30-0

2094 135401907

Losartan

Approved

Phase 4

114798-26-4

3961

Hydrochlorothiazide

Approved, Vet_approved

Phase 4

58-93-5

3639

Mirabegron

Approved

Phase 4

223673-61-8

18319735 9865528

Benazepril

Approved, Investigational

Phase 4

86541-75-5

5362124

Captopril

Approved

Phase 4

62571-86-2

44093

Everolimus

Approved

Phase 4

159351-69-6

70789204 6442177

Mycophenolic acid

Approved, Investigational

Phase 4

24280-93-1

446541

Tacrolimus

Approved, Investigational

Phase 4

104987-11-3

6473866 445643

Nebivolol

Approved, Investigational

Phase 4

152520-56-4, 99200-09-6, 118457-14-0

71301

Candesartan cilexetil

Approved

Phase 4

145040-37-5

Irbesartan

Approved, Investigational

Phase 4

138402-11-6

3749

Metformin

Approved

Phase 4

1115-70-4, 657-24-9

4091

Dutasteride

Approved, Investigational

Phase 4

164656-23-9

6918296

Racephedrine

Approved, Experimental

Phase 4

299-42-3, 90-82-4, 90-81-3

5032 9294 7028

Phenylephrine

Approved

Phase 4

59-42-7

6041

Alfuzosin

Approved, Investigational

Phase 4

81403-80-7

2092

Tocopherol

Approved, Investigational

Phase 4

1406-66-2

Tamsulosin

Approved, Investigational

Phase 4

106133-20-4

129211

Chlorhexidine

Approved, Vet_approved, Withdrawn

Phase 4

55-56-1

2713 9552079

Glyburide

Approved

Phase 4

10238-21-8

3488

Rocuronium

Approved

Phase 4

119302-91-9, 143558-00-3

441290

Atracurium

Approved, Experimental, Investigational

Phase 4

64228-79-1

47319

Mivacurium

Approved

Phase 4

106791-40-6, 133814-19-4

5281042

Silodosin

Approved

Phase 4

160970-54-7

9891967 5312125

Triamcinolone

Approved, Vet_approved

Phase 4

124-94-7

31307

Hydrocortisone succinate

Approved

Phase 4

2203-97-6

3643

Hydrocortisone acetate

Approved, Vet_approved

Phase 4

50-03-3

Hydrocortisone

Approved, Vet_approved

Phase 4

50-23-7

3640 5754

Petrolatum

Approved, Investigational

Phase 4

8009-03-8

Clobetasol

Approved, Experimental, Investigational

Phase 4

25122-46-7, 25122-41-2

2791 5311051 32798

Spironolactone

Approved

Phase 4

1952-01-7, 52-01-7

5833

Ranolazine

Approved, Investigational

Phase 4

142387-99-3, 95635-55-5

56959

Ketorolac

Approved

Phase 4

74103-06-3, 66635-83-4

3826

Metoprolol

Approved, Investigational

Phase 4

37350-58-6, 51384-51-1

4171

Verapamil

Approved

Phase 4

152-11-4, 52-53-9

2520

Bisoprolol

Approved

Phase 4

66722-44-9

2405

Esmolol

Approved, Withdrawn

Phase 4

103598-03-4, 81147-92-4

59768

Amlodipine

Approved

Phase 4

88150-42-9

2162

Chlorthalidone

Approved

Phase 4

77-36-1

2732

Enalaprilat

Approved

Phase 4

76420-72-9

6917719 5462501

Enalapril

Approved, Vet_approved

Phase 4

75847-73-3

40466924 5388962 5362032

Interventional clinical trials:

(show top 50) (show all 608)

#	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	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
3	Effects of Everolimus in Left Ventricular Hypertrophy After Conversion From Azathioprine: A Pilot Study	Unknown status	NCT02493465	Phase 4	Everolimus
4	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
5	A Randomized, Double-blind, Placebo-controlled Study of Dexlansoprazole to Treat Laryngopharyngeal Reflux and Lingual Tonsil Hypertrophy	Unknown status	NCT01328652	Phase 4	dexlansoprazole
6	Bizact Versus Electroscissor for Adult Tonsillectomy	Unknown status	NCT03854279	Phase 4
7	Randomized Controlled Study of Plasmaknife Tonsillectomy Versus Monopolar Tonsillectomy	Unknown status	NCT00466544	Phase 4
8	Mitigating Cardiac Inflammation and Oxidative Stress in Atrial Myocardium Via Short-term Lovaza Treatment Prior to Surgery	Unknown status	NCT01046604	Phase 4	Lovaza group
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	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
11	Intralesional Injection of Steroids and/or Botulinum Toxin Type A in Hypertrophic Scars and Keloids for Pain Improvement	Unknown status	NCT03982862	Phase 4	Triamcinolone;Lidocaine;Botulinum toxin A
12	Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy-- a Multicenter Randomized Control Trial	Unknown status	NCT02948998	Phase 4	Spironolactone
13	Prospective Evaluation of Xeomin Cosmetic in the Management of the Masseter Using Two Different Injection Techniques	Completed	NCT03376464	Phase 4
14	Lidocaine Infusions for Children Undergoing Combined Tonsillectomy and Adenoidectomy: A Double-Blinded, Randomized, Placebo-Controlled Trial	Completed	NCT03902314	Phase 4	Lidocaine Iv;Saline Solution
15	DAPA-LVH - Does Dapagliflozin Regress Left Ventricular Hypertrophy In Patients With Type 2 Diabetes?	Completed	NCT02956811	Phase 4	Dapagliflozin;Placebo
16	Does ALlopurinol Regress lefT Ventricular Hypertrophy in End Stage REnal Disease: The ALTERED Study	Completed	NCT01951404	Phase 4	Allopurinol;Placebo (for allopurinol)
17	Do Xanthine Oxidase Inhibitors Reduce Both Left Ventricular Hypertrophy and Endothelial Dysfunction in Cardiovascular Patients With Renal Dysfunction?	Completed	NCT00688480	Phase 4	Placebo;Allopurinol
18	Effects of Amlodipine/Benazepril in Reducing Left Ventricular Hypertrophy in Patients With High Risk Hypertension	Completed	NCT00139555	Phase 4	amlodipine/benazepril
19	Effects Of Volume Control Guided By Bioimpedance Spectroscopy On Blood Pressure And Cardiac Condition In Hemodialysis Patients	Completed	NCT00974857	Phase 4
20	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	Completed	NCT03415750	Phase 4	Everolimus;Mycophenolate mofetil;Tacrolimus
21	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
22	Glutamate Infusion in Hypertrophied Ventricle After Aortic Valve Replacement - a Randomized Trial	Completed	NCT01144039	Phase 4	LG-group;HG-group;Placebo-group
23	Effects of Eplerenone on Left Ventricular Hypertrophy in Patients With Resistant Hypertension and Obstructive Sleep Apnoea	Completed	NCT03186742	Phase 4	Eplerenone 50 mg Tab
24	Effect of Etelcalcetide on Cardiac Hypertrophy in Hemodialysis Patients: A Randomized Controlled Trial	Completed	NCT03182699	Phase 4
25	Irbesartan In Hypertensive Patients With Left Ventricular Hypertrophy	Completed	NCT00362037	Phase 4	Irbesartan (Aprovel)
26	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;Felodipine
27	A Prospective, Multicentre, Randomized, Open Label, Evaluator-Blind, Phase IV Study to Evaluate the Effect on Improvement of Left Ventricular Hypertrophy by the Control of Blood Pressure in Hypertension Patients With Aortic Valve Disease	Completed	NCT03666351	Phase 4	Amlodipine 5mg;Losartan;Losartan and Amlodipine;Amlodipine/Losartan/Chlorthalidone;current treatment
28	MetfoRmin and Its Effects on Myocardial Dimension and Left Ventricular Hypertrophy in Normotensive Patients With Coronary Artery Disease	Completed	NCT02226510	Phase 4	Metformin XL;Placebo
29	Effect of Valsartan on Left Ventricular Myocardial Functions in Hypertensive Patients With Left Ventricular Hypertrophy	Completed	NCT01425411	Phase 4	valsartan
30	Does Allopurinol Regress Left Ventricular Hypertrophy in Patients With Treated Essential Hypertension?	Completed	NCT02237339	Phase 4	Allopurinol;Placebo
31	Effect of Dutasteride on Bladder Wall Hypertrophy in Patients With Benign Prostatic Obstruction: A 24-Week Open-Label, Single-Arm Pilot Study	Completed	NCT00827814	Phase 4	Dutasteride
32	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
33	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
34	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
35	A Randomized, Double-Blind, Placebo-Controlled, Parallel Group, Multicenter Study of Solifenacin Succinate as Add-on Therapy for Overactive Bladder (OAB) Symptoms in Men Treated for Benign Prostatic Hyperplasia (BPH) With Tamsulosin Hydrochloride	Completed	NCT00771394	Phase 4	Tamsulosin hydrochloride;Solifenacin succinate
36	Effect of Tranexamic Acid on Postoperative Bleeding Following Sinus and Nasal Surgery	Completed	NCT04754230	Phase 4	Tranexamic Acid 1,000 Mg/10 mL (100 Mg/mL) INTRAVEN VIAL (ML)
37	Effects of Dapagliflozin, an SGLT2 Inhibitor, on Hemodynamic Parameters, Target Organ Damage and Obesity Profile in Resistant Hypertensive Subjects	Completed	NCT03089333	Phase 4	Dapagliflozin 10mg;Glibenclamide 5Mg Tablet
38	Effect of Deep BLock on Intraoperative Surgical Conditions, Perioperative Hemodynamic Status and Respiratory Parameters Following Reversal With Sugammadex in Patients Undergoing Laparoscopic Renal and Prostate Surgery.	Completed	NCT01631149	Phase 4	Surgical block (rocuronium; atracurium/mivacurium)
39	Safety and Efficacy of 8mg Once-daily Versus 4mg Twice-daily Silodosin With Lower Urinary Tract Symptoms Suggestive of BPH ; 12-week, Double-blind, Randomized, Comparison, Multi-center Study	Completed	NCT01260129	Phase 4	Silodosin
40	The "ALiskiren or Losartan Effects on bioMARKers of Myocardial Remodeling (ALLMARK)" Study	Completed	NCT01176032	Phase 4	Aliskiren;Losartan;Amlodipine;Hydrochlorothiazide (HCTZ)
41	Effect of Silicone Gel Versus Contractubex Phonophoresis for Post-burn Hypertrophic Scars: A Single Blind Randomized Controlled Trial	Completed	NCT03777891	Phase 4
42	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
43	A Prospective, Randomized, Investigator-blinded, Placebo-controlled, Comparative Study Evaluating the Tolerability and Efficacy of Two Topical Therapies for the Treatment of Keloids and Hypertrophic Scars	Completed	NCT00754247	Phase 4	0.5% hydrocortisone, silicone, vitamin E lotion;Onion extract gel;Cetearyl alcohol lotion
44	Treatment of Hypertrophic Scars Using Fractional Laser and Fractional Laser-assisted Topical Corticosteroid Delivery	Completed	NCT02487212	Phase 4	0.05% Clobetasol propionate;Petrolatum gel
45	Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy	Completed	NCT00879060	Phase 4	Spironolactone;Placebo
46	Effect of Transparent, Self-drying Silicone Gel on the Treatment of Hypertrophic Abdominal Scars	Completed	NCT01078428	Phase 4
47	Pilot Study of a Novel 532nm KTP Laser for the Treatment of Fresh Surgical Scars	Completed	NCT01789346	Phase 4
48	Ranolazine for the Treatment of Angina in Hypertrophic Cardiomyopathy Investigation	Completed	NCT01721967	Phase 4	Ranolazine
49	Empagliflozin and Cardiac Remodelling in People Without Diabetes	Recruiting	NCT04461041	Phase 4	Empagliflozin;Placebo
50	Prospective Comparison of Angiotensin Receptor Neprilysin Inhibitor (ARNI) With Amlodipine on Ventricular Remodeling in Hypertension and Left Ventricular Hypertrophy.	Recruiting	NCT04929600	Phase 4	sacubitril/valsartan;Amlodipine

Search NIH Clinical Center for Muscle Hypertrophy

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Genetic Tests for Muscle Hypertrophy

Sources

Anatomical Context for Muscle Hypertrophy

Organs/tissues related to Muscle Hypertrophy:

MalaCards : Skeletal Muscle, Prostate, Heart, Liver, Spinal Cord, Smooth Muscle, Kidney

Sources

Publications for Muscle Hypertrophy

Articles related to Muscle Hypertrophy:

(show top 50) (show all 4405)

#	Title	Authors	PMID	Year
1	Myostatin mutation associated with gross muscle hypertrophy in a child. ⁵³ ⁶² ⁵⁷ ⁵	Schuelke M...Lee SJ	15215484	2004
2	Myostatin mutation associated with gross muscle hypertrophy in a child. ⁵³ ⁶² ⁵⁷	Catipovic B	15342814	2004
3	A mutation in the myostatin gene increases muscle mass and enhances racing performance in heterozygote dogs. ⁵⁷	Mosher DS...Ostrander EA	17530926	2007
4	A mutation creating a potential illegitimate microRNA target site in the myostatin gene affects muscularity in sheep. ⁵⁷	Clop A...Georges M	16751773	2006
5	Double muscling in Marchigiana beef breed is caused by a stop codon in the third exon of myostatin gene. ⁵⁷	Marchitelli C...Valentini A	12879361	2003
6	Myostatin knockout in mice increases myogenesis and decreases adipogenesis. ⁵⁷	Lin J...Baile CA	11855847	2002
7	A deletion in the myostatin gene causes the compact (Cmpt) hypermuscular mutation in mice. ⁵⁷	Szabo G...Varga L	9680391	1998
8	A deletion in the bovine myostatin gene causes the double-muscled phenotype in cattle. ⁵⁷	Grobet L...Georges M	9288100	1997
9	Regulation of skeletal muscle mass in mice by a new TGF-beta superfamily member. ⁵⁷	McPherron AC...Lee SJ	9139826	1997
10	The mh gene causing double-muscling in cattle maps to bovine Chromosome 2. ⁵⁷	Charlier C...Hanset R	8597635	1995
11	Pulmonary artery smooth muscle hypertrophy: roles of glycogen synthase kinase-3beta and p70 ribosomal S6 kinase. ⁵³ ⁶²	Deng H...Bentley JK	20190034	2010
12	p70 Ribosomal S6 kinase is required for airway smooth muscle cell size enlargement but not increased contractile protein expression. ⁵³ ⁶²	Deng H...Bentley JK	19648476	2010
13	Coordinated increase in skeletal muscle fiber area and expression of IGF-I with resistance exercise in elderly post-operative patients. ⁵³ ⁶²	Suetta C...Kjaer M	20031461	2010
14	Muscle hypertrophy and increased expression of leptin receptors in the musculus triceps brachii of the dominant arm in professional tennis players. ⁵³ ⁶²	Olmedillas H...Guerra B	20187280	2010
15	Calmodulin kinase II is required for angiotensin II-mediated vascular smooth muscle hypertrophy. ⁵³ ⁶²	Li H...Grumbach IM	20023119	2010
16	Exercise does not influence myostatin and follistatin messenger RNA expression in young women. ⁵³ ⁶²	Jensky NE...Schroeder ET	20124796	2010
17	Cycle training increased GLUT4 and activation of mammalian target of rapamycin in fast twitch muscle fibers. ⁵³ ⁶²	Stuart CA...Stone MH	20010125	2010
18	Involvement of PI3K/Akt/TOR pathway in stretch-induced hypertrophy of myotubes. ⁵³ ⁶²	Sasai N...Hayakawa K	19768770	2010
19	Exercise and the growth hormone-insulin-like growth factor axis. ⁵³ ⁶²	Frystyk J	20010129	2010
20	Effects of high-intensity resistance training in patients with rheumatoid arthritis: a randomized controlled trial. ⁵³ ⁶²	Lemmey AB...Maddison PJ	19950325	2009
21	Ca2+/calmodulin-dependent transcriptional pathways: potential mediators of skeletal muscle growth and development. ⁵³ ⁶²	Al-Shanti N...Stewart CE	19725819	2009
22	Inducible activation of Akt increases skeletal muscle mass and force without satellite cell activation. ⁵³ ⁶²	Blaauw B...Reggiani C	19661286	2009
23	Extraocular muscle hypertrophy in myotonia congenita: Mutation identified in the SCN4A gene (V445M). ⁵³ ⁶²	Wakeman B...Babu D	19840739	2009
24	The adaptive responses in several mediators linked with hypertrophy and atrophy of skeletal muscle after lower limb unloading in humans. ⁵³ ⁶²	Sakuma K...Akima H	19432591	2009
25	Muscle hypertrophy driven by myostatin blockade does not require stem/precursor-cell activity. ⁵³ ⁶²	Amthor H...Partridge T	19383783	2009
26	Atrogin-1/MAFbx enhances simulated ischemia/reperfusion-induced apoptosis in cardiomyocytes through degradation of MAPK phosphatase-1 and sustained JNK activation. ⁵³ ⁶²	Xie P...Li H	19117950	2009
27	Muscle expressions of MGF, IGF-IEa, and myostatin in intact and hypophysectomized rats: effects of rhGH and testosterone alone or combined. ⁵³ ⁶²	Rigamonti AE...Muller EE	18841527	2009
28	Regulation of mTOR signaling in skeletal muscle hypertrophy. ⁵³ ⁶²	Esser K	19147966	2008
29	Gene doping: the hype and the reality. ⁵³ ⁶²	Wells DJ	18500383	2008
30	Growth factors, muscle function and doping. ⁵³ ⁶²	Goldspink G...Bachl N	18353722	2008
31	Inhibition of glycogen synthase kinase-3beta is sufficient for airway smooth muscle hypertrophy. ⁵³ ⁶²	Deng H...Bentley JK	18252708	2008
32	PGF2alpha-associated vascular smooth muscle hypertrophy is ROS dependent and involves the activation of mTOR, p70S6k, and PTEN. ⁵³ ⁶²	Rice KM...Blough ER	18160324	2008
33	Muscle-specific overexpression of the type 1 IGF receptor results in myoblast-independent muscle hypertrophy via PI3K, and not calcineurin, signaling. ⁵³ ⁶²	Quinn LS...Plymate SR	17940216	2007
34	The influence of eccentric exercise on mRNA expression of skeletal muscle regulators. ⁵³ ⁶²	Jensky NE...Schroeder ET	17661068	2007
35	Cluster analysis tests the importance of myogenic gene expression during myofiber hypertrophy in humans. ⁵³ ⁶²	Bamman MM...Cross JM	17395765	2007
36	Extracellular signal-regulated kinase pathway is differentially involved in beta-agonist-induced hypertrophy in slow and fast muscles. ⁵³ ⁶²	Shi H...Gerrard DE	17151143	2007
37	IL-13 mediates the recruitment of reserve cells for fusion during IGF-1-induced hypertrophy of human myotubes. ⁵³ ⁶²	Jacquemin V...Mouly V	17264150	2007
38	Skeletal muscle IL-4, IL-4Ralpha, IL-13 and IL-13Ralpha1 expression and response to strength training. ⁵³ ⁶²	Prokopchuk O...Steinacker JM	18198661	2007
39	mTOR pathway as a target in tissue hypertrophy. ⁵³ ⁶²	Lee CH...Guan KL	16968213	2007
40	The ABCs of IGF-I isoforms: impact on muscle hypertrophy and implications for repair. ⁵³ ⁶²	Barton ER	17213901	2006
41	Skeletal muscle stem cells: a symposium. ⁵³ ⁶²	Hood DA...Hawke TJ	17213898	2006
42	Ectopic insulin-like growth factor I expression in avian skeletal muscle prevents expression of CMD4, a novel inhibitor of differentiation. ⁵³ ⁶²	Winner DG...Johnson SE	16423499	2006
43	Akt signalling through GSK-3beta, mTOR and Foxo1 is involved in human skeletal muscle hypertrophy and atrophy. ⁵³ ⁶²	Leger B...Russell AP	16916907	2006
44	Local changes in the insulin-like growth factor system in human skeletal muscle assessed by microdialysis and arterio-venous differences technique. ⁵³ ⁶²	Berg U...Bang P	16904923	2006
45	Transforming growth factor-beta induces airway smooth muscle hypertrophy. ⁵³ ⁶²	Goldsmith AM...Hershenson MB	16239645	2006
46	Prevention and treatment of cancer cachexia: new insights into an old problem. ⁵³ ⁶²	Muscaritoli M...Rossi Fanelli F	16314085	2006
47	Molecular mechanisms involving IGF-1 and myostatin to induce muscle hypertrophy as a therapeutic strategy for Duchenne muscular dystrophy. ⁵³ ⁶²	Patel K...Amthor H	16629058	2005
48	mTOR function in skeletal muscle hypertrophy: increased ribosomal RNA via cell cycle regulators. ⁵³ ⁶²	Nader GA...Esser KA	16079186	2005
49	Myostatin: a modulator of skeletal-muscle stem cells. ⁵³ ⁶²	Walsh FS...Celeste AJ	16246158	2005
50	Muscle regeneration through myostatin inhibition. ⁵³ ⁶²	Wagner KR	16224249	2005

Sources

Genes for Muscle Hypertrophy

Genes related to Muscle Hypertrophy (2 elite genes):

(show all 25)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MSTN	Myostatin	Protein Coding	976.14	Molecular basis known ⁵⁷ Pathogenic ⁵ Unconfirmed association ⁵⁷ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	15215484 19383783 16883577 (more) 12717734 17661068 18500383 19661286 19602279 15644458 16224249 15352277 15342814 19432591 11600426 20124796 20348550 19656243 19357233 18841527 16110473 16629058 15221330 11078093 9843994 18537552 17608303 17527653 16246158 10191278 9800322 12435355 12244043 15026560 17381315 17673556
2	C2orf88	Chromosome 2 Open Reading Frame 88	Protein Coding	400	Pathogenic ⁵	15215484
3	FHL1	Four And A Half LIM Domains 1	Protein Coding	20.63	Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	19687455 10860860 19075112
4	MYOC	Myocilin	Protein Coding	15.86	GeneCards inferred via : Proteins Functions (show sections)
5	IGF1	Insulin Like Growth Factor 1	Protein Coding	15.45	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11509557 10191278 15302582 (more) 2003574 9071712 11715022 7860746 7744859 20394991 1616029 15550386 17947802 11798723 17395765 18432164 17264150 16550928 15673562 14741375 11717153 7683979 12760311 20031461 16314085 12566109 20010129 12187277 11499550 9553182 2042640 8231767 7611259 8884603 17850885 12183514 10202998 9264495 8930132 8691727 1498008 1734018 19602279 19661286 19725819 17354613 16904923 15125887 12534355 11839766 11171591 10375016 7564090 17940216 17981549 17213901 16087388 15894537 15879693 14980516 11927728 11600426 10509807 9703337 7582069 7563623 1928375 17211256 12942540 8977753 19940493 18287683 18443138 18353722 9278861 8676803 7530717 7843068 7919223 19759555 18841527 16423499 15936927 12846737 12589001 12574144 9688993 9350445 8097067 19950325 7982470 8283604 20200966 19883387 17213898 16621899 16024511 12875235 15847639 15451071
6	MTPN	Myotrophin	Protein Coding	15.39	Novoseek inferred ⁵³ GeneCards inferred via : Functions (show sections)	15532712 14970239 8428777 (more) 9633917 15946807 17085807 18693253 20157292 15385543 10329199
7	FBXO32	F-Box Protein 32	Protein Coding	14.53	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	18235241 15550386 19117950 (more) 16916907 19432591 17965779
8	MYOD1	Myogenic Differentiation 1	Protein Coding	13	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	12716875 17661068 17395765 (more) 20124796 10370140
9	MEF2A	Myocyte Enhancer Factor 2A	Protein Coding	12.45	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	18697823 10842305 19424677
10	HDAC4	Histone Deacetylase 4	Protein Coding	12.29	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	19716643 15537533 16767219 (more) 19704004 20023119
11	TTN	Titin	Protein Coding	12.16	Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	18096819
12	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	11.84	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15205471 19207476 10888249 (more) 16541106 19768770 20232299 14501030 17151143 11817656 15894467 12374743 15558058 11156878 11158304 11098049 18160324 17097081 10092665 8589450 15155564 15886273 15936927 16869890 9314533 11739382 12783777
13	RPS6KB1	Ribosomal Protein S6 Kinase B1	Protein Coding	11.84	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	9242178 15963500 18160324 (more) 16717578 19648476 20005292 7534292
14	SCN4A	Sodium Voltage-Gated Channel Alpha Subunit 4	Protein Coding	11.7	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	19840739 18337100
15	SRF	Serum Response Factor	Protein Coding	11.67	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10368339 15221330 18252708 (more) 16556869 19432591 16007820 12663674 20190034 1757795
16	FKRP	Fukutin Related Protein	Protein Coding	11.64	Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	11592034 11741828
17	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	11.44	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16916907 19147966 19401455 (more) 19422645 16968213 19768770
18	PPP3CA	Protein Phosphatase 3 Catalytic Subunit Alpha	Protein Coding	11.44	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15723976 12639710 16389460
19	LEP	Leptin	Protein Coding	11.43	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	19391127 16433256 11604238 (more) 19660619 11604219 16005450 15488649 17879022 19949425 20187280 11353336 11981264 16767072
20	CAMK2G	Calcium/Calmodulin Dependent Protein Kinase II Gamma	Protein Coding	11.4	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	20023119 19207476 18803570 (more) 19997488 16767219 15629441 15979723 14985822
21	UBTF	Upstream Binding Transcription Factor	Protein Coding	11.29	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	7713937 16079186 8710943 (more) 11511532 8593693 8621723 8574998
22	EIF4EBP1	Eukaryotic Translation Initiation Factor 4E Binding Protein 1	Protein Coding	11.19	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15901615
23	MYOZ2	Myozenin 2	Protein Coding	10.23	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16293906 15543153
24	RPS6	Ribosomal Protein S6	Protein Coding	9.92	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15574430 19401455
25	MYH7	Myosin Heavy Chain 7	Protein Coding	9.75	Novoseek inferred ⁵³	10329202 10212267 12520092 (more) 17517351 8702883 11986409 12881443 15623567 12213966 1284369 11214007 12847114 17099778 19474060 8331789 15010274

Sources

Variations for Muscle Hypertrophy

ClinVar genetic disease variations for Muscle Hypertrophy:

⁵ (show top 50) (show all 52)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	C2orf88, MSTN	NM_005259.3(MSTN):c.373+5G>A	SNV	Pathogenic	7705	rs397515373	GRCh37: 2:190926945-190926945 GRCh38: 2:190062219-190062219
2	C2orf88, MSTN	NM_005259.3(MSTN):c.*259A>G	SNV	Uncertain Significance	333230	rs578136956	GRCh37: 2:190921725-190921725 GRCh38: 2:190056999-190056999
3	C2orf88, MSTN	NM_005259.3(MSTN):c.*923T>C	SNV	Uncertain Significance	333222	rs886055371	GRCh37: 2:190921061-190921061 GRCh38: 2:190056335-190056335
4	C2orf88, MSTN	NM_005259.3(MSTN):c.*697T>C	SNV	Uncertain Significance	333224	rs186458339	GRCh37: 2:190921287-190921287 GRCh38: 2:190056561-190056561
5	C2orf88, MSTN	NM_005259.3(MSTN):c.*1073G>T	SNV	Uncertain Significance	333221	rs886055370	GRCh37: 2:190920911-190920911 GRCh38: 2:190056185-190056185
6	C2orf88, MSTN	NM_005259.3(MSTN):c.*1063A>G	SNV	Uncertain Significance	895418	rs1685421811	GRCh37: 2:190920921-190920921 GRCh38: 2:190056195-190056195
7	C2orf88, MSTN	NM_005259.3(MSTN):c.*784G>A	SNV	Uncertain Significance	895419	rs776456900	GRCh37: 2:190921200-190921200 GRCh38: 2:190056474-190056474
8	C2orf88, MSTN	NM_005259.3(MSTN):c.*695A>C	SNV	Uncertain Significance	895420	rs1042335329	GRCh37: 2:190921289-190921289 GRCh38: 2:190056563-190056563
9	C2orf88, MSTN	NM_005259.3(MSTN):c.453A>G (p.Val151=)	SNV	Uncertain Significance	895482	rs758969290	GRCh37: 2:190925082-190925082 GRCh38: 2:190060356-190060356
10	C2orf88, MSTN	NM_005259.3(MSTN):c.98T>C (p.Val33Ala)	SNV	Uncertain Significance	895483	rs1685625618	GRCh37: 2:190927225-190927225 GRCh38: 2:190062499-190062499
11	C2orf88, MSTN	NM_005259.3(MSTN):c.*336C>A	SNV	Uncertain Significance	896815	rs1685447206	GRCh37: 2:190921648-190921648 GRCh38: 2:190056922-190056922
12	C2orf88, MSTN	NM_005259.3(MSTN):c.*127T>C	SNV	Uncertain Significance	896816	rs923518162	GRCh37: 2:190921857-190921857 GRCh38: 2:190057131-190057131
13	C2orf88, MSTN	NM_005259.3(MSTN):c.-99G>A	SNV	Uncertain Significance	896884	rs1685633250	GRCh37: 2:190927421-190927421 GRCh38: 2:190062695-190062695
14	C2orf88, MSTN	NM_005259.3(MSTN):c.*121A>G	SNV	Uncertain Significance	333232	rs886055372	GRCh37: 2:190921863-190921863 GRCh38: 2:190057137-190057137
15	C2orf88, MSTN	NM_005259.3(MSTN):c.1085G>A (p.Gly362Glu)	SNV	Uncertain Significance	897310	rs375423318	GRCh37: 2:190922027-190922027 GRCh38: 2:190057301-190057301
16	C2orf88, MSTN	NM_005259.3(MSTN):c.897C>T (p.Ile299=)	SNV	Uncertain Significance	897311	rs773422984	GRCh37: 2:190922215-190922215 GRCh38: 2:190057489-190057489
17	C2orf88, MSTN	NM_005259.3(MSTN):c.796A>C (p.Arg266=)	SNV	Uncertain Significance	897312	rs1390302339	GRCh37: 2:190922316-190922316 GRCh38: 2:190057590-190057590
18	C2orf88, MSTN	NM_005259.3(MSTN):c.*1316C>G	SNV	Uncertain Significance	898411	rs1253469843	GRCh37: 2:190920668-190920668 GRCh38: 2:190055942-190055942
19	C2orf88, MSTN	NM_005259.3(MSTN):c.*1273C>T	SNV	Uncertain Significance	898412	rs1195446819	GRCh37: 2:190920711-190920711 GRCh38: 2:190055985-190055985
20	C2orf88, MSTN	NM_005259.3(MSTN):c.547G>C (p.Gly183Arg)	SNV	Uncertain Significance	898475	rs749141789	GRCh37: 2:190924988-190924988 GRCh38: 2:190060262-190060262
21	C2orf88, MSTN	NM_005259.3(MSTN):c.513G>A (p.Val171=)	SNV	Uncertain Significance	898477	rs1685556708	GRCh37: 2:190925022-190925022 GRCh38: 2:190060296-190060296
22	C2orf88, MSTN	NM_005259.3(MSTN):c.674T>C (p.Ile225Thr)	SNV	Likely Benign	333236	rs143242500	GRCh37: 2:190924861-190924861 GRCh38: 2:190060135-190060135
23	C2orf88, MSTN	NM_005259.3(MSTN):c.466C>A (p.Leu156Ile)	SNV	Likely Benign	333239	rs35493945	GRCh37: 2:190925069-190925069 GRCh38: 2:190060343-190060343
24	C2orf88, MSTN	NM_005259.3(MSTN):c.516A>C (p.Gln172His)	SNV	Likely Benign	898476	rs200908904	GRCh37: 2:190925019-190925019 GRCh38: 2:190060293-190060293
25	C2orf88, MSTN	NM_005259.3(MSTN):c.-44GAA[1]	MICROSAT	Likely Benign	333245	rs772646099	GRCh37: 2:190927361-190927363 GRCh38: 2:190062635-190062637
26	C2orf88, MSTN	NM_005259.3(MSTN):c.490G>A (p.Glu164Lys)	SNV	Likely Benign	333238	rs35781413	GRCh37: 2:190925045-190925045 GRCh38: 2:190060319-190060319
27	C2orf88, MSTN	NM_005259.3(MSTN):c.386T>G (p.Met129Arg)	SNV	Likely Benign	333240	rs142195885	GRCh37: 2:190925149-190925149 GRCh38: 2:190060423-190060423
28	C2orf88, MSTN	NM_005259.3(MSTN):c.180C>T (p.Ile60=)	SNV	Likely Benign	333243	rs35321585	GRCh37: 2:190927143-190927143 GRCh38: 2:190062417-190062417
29	C2orf88, MSTN	NM_005259.3(MSTN):c.748-3C>T	SNV	Likely Benign	333235	rs374256136	GRCh37: 2:190922367-190922367 GRCh38: 2:190057641-190057641
30	C2orf88, MSTN	NM_005259.3(MSTN):c.*574G>A	SNV	Likely Benign	333225	rs114597606	GRCh37: 2:190921410-190921410 GRCh38: 2:190056684-190056684
31	C2orf88, MSTN	NM_005259.3(MSTN):c.*41G>T	SNV	Likely Benign	333233	rs762191502	GRCh37: 2:190921943-190921943 GRCh38: 2:190057217-190057217
32	C2orf88, MSTN	NM_005259.3(MSTN):c.1062T>C (p.Asn354=)	SNV	Likely Benign	333234	rs761053215	GRCh37: 2:190922050-190922050 GRCh38: 2:190057324-190057324
33	C2orf88, MSTN	NM_005259.3(MSTN):c.*1145del	DEL	Likely Benign	333220	rs199602321	GRCh37: 2:190920839-190920839 GRCh38: 2:190056113-190056113
34	C2orf88, MSTN	NM_005259.3(MSTN):c.*742C>T	SNV	Benign	333223	rs72909336	GRCh37: 2:190921242-190921242 GRCh38: 2:190056516-190056516
35	C2orf88, MSTN	NM_005259.3(MSTN):c.-17A>C	SNV	Benign	333244	rs201887141	GRCh37: 2:190927339-190927339 GRCh38: 2:190062613-190062613
36	C2orf88, MSTN	NM_005259.3(MSTN):c.*493G>A	SNV	Benign	333226	rs16832285	GRCh37: 2:190921491-190921491 GRCh38: 2:190056765-190056765
37	C2orf88, MSTN	NM_005259.3(MSTN):c.*273C>G	SNV	Benign	333229	rs150145410	GRCh37: 2:190921711-190921711 GRCh38: 2:190056985-190056985
38	C2orf88, MSTN	NM_005259.3(MSTN):c.551C>T (p.Thr184Ile)	SNV	Benign	333237	rs369290669	GRCh37: 2:190924984-190924984 GRCh38: 2:190060258-190060258
39	C2orf88, MSTN	NM_005259.3(MSTN):c.*135G>A	SNV	Benign	333231	rs60490864	GRCh37: 2:190921849-190921849 GRCh38: 2:190057123-190057123
40	C2orf88, MSTN	NM_005259.3(MSTN):c.*1362A>G	SNV	Benign	333217	rs377503267	GRCh37: 2:190920622-190920622 GRCh38: 2:190055896-190055896
41	C2orf88, MSTN	NM_005259.3(MSTN):c.*1203G>C	SNV	Benign	333219	rs3187415	GRCh37: 2:190920781-190920781 GRCh38: 2:190056055-190056055
42	C2orf88, MSTN	NM_005259.3(MSTN):c.*290C>T	SNV	Benign	333228	rs537956645	GRCh37: 2:190921694-190921694 GRCh38: 2:190056968-190056968
43	C2orf88, MSTN	NM_005259.3(MSTN):c.*1450T>C	SNV	Benign	333216	rs144167726	GRCh37: 2:190920534-190920534 GRCh38: 2:190055808-190055808
44	C2orf88, MSTN	NM_005259.3(MSTN):c.*1332A>G	SNV	Benign	333218	rs3791782	GRCh37: 2:190920652-190920652 GRCh38: 2:190055926-190055926
45	C2orf88, MSTN	NM_005259.3(MSTN):c.*1514C>G	SNV	Benign	333215	rs12105165	GRCh37: 2:190920470-190920470 GRCh38: 2:190055744-190055744
46	C2orf88, MSTN	NM_005259.3(MSTN):c.747+8A>G	SNV	Benign	898474	rs185201680	GRCh37: 2:190924780-190924780 GRCh38: 2:190060054-190060054
47	C2orf88, MSTN	NM_005259.3(MSTN):c.*40G>T	SNV	Benign	897309	rs141652279	GRCh37: 2:190921944-190921944 GRCh38: 2:190057218-190057218
48	C2orf88, MSTN	NM_005259.3(MSTN):c.163G>A (p.Ala55Thr)	SNV	Benign	65687	rs1805085	GRCh37: 2:190927160-190927160 GRCh38: 2:190062434-190062434
49	C2orf88, MSTN	NM_005259.3(MSTN):c.458A>G (p.Lys153Arg)	SNV	Benign	65688	rs1805086	GRCh37: 2:190925077-190925077 GRCh38: 2:190060351-190060351
50	C2orf88, MSTN	NM_005259.3(MSTN):c.263G>A (p.Arg88Gln)	SNV	Benign	333242	rs138343163	GRCh37: 2:190927060-190927060 GRCh38: 2:190062334-190062334

Sources

Expression for Muscle Hypertrophy

Search GEO for disease gene expression data for Muscle Hypertrophy.

Sources

Pathways for Muscle Hypertrophy

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

(show all 46)

#	Super pathways	Score	Top Affiliating Genes
1	Signal Transduction ⁶⁶	13.65	CAMK2G HDAC4 IGF1 LEP MAPK1 MEF2A
2	Prolactin Signaling ⁶⁴ Show member pathways Development Prolactin receptor signaling ²² EGFR Inhibitor Pathway, Pharmacodynamics ⁶⁰ EGFR tyrosine kinase inhibitor resistance ⁷⁴ ErbB Family Pathway ⁶⁴ ErbB signaling pathway ⁷⁴ ErbB2-ErbB3 Heterodimers ⁶⁴ ErbB4 Pathway ⁶⁴ Estrogen-stimulated signaling through PRKCZ ⁶⁶ Glioblastoma Multiforme ⁶⁴ Glioblastoma signaling pathways ⁷⁴ Growth Hormone Signaling ⁶⁴ HMGB1 Pathway ⁶⁴ IL-2 Pathway ⁶⁴ LPS Stimulated MAPK Signaling ⁶⁴ PACAP Signaling ⁶⁴ PI3K Signaling in B-Lymphocyte ⁶⁴ TCA cycle nutrient use and invasiveness of ovarian cancer ⁷⁴ Thrombopoietin Pathway ⁶⁴ TREM1 Pathway ⁶⁴ UVA-Induced MAPK Signaling ⁶⁴ UVB-Induced MAPK Signaling ⁶⁴ UVC-Induced MAPK Signaling ⁶⁴	13.42	SRF RPS6KB1 PPP3CA MTOR MAPK1 IGF1
3	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	12.99	RPS6KB1 PPP3CA MTOR MEF2A MAPK1 IGF1
4	Signaling by Receptor Tyrosine Kinases ⁶⁶	12.77	IGF1 MAPK1 MEF2A MTOR SRF
5	Calmodulin induced events ⁶⁶ Show member pathways Ca-dependent events ⁶⁶ CaM pathway ⁶⁶ CaMK IV-mediated phosphorylation of CREB ⁶⁶ Cam-PDE 1 activation ⁶⁶ CREB1 phosphorylation through the activation of CaMKII/CaMKK/CaMKIV cascasde ⁶⁶ DAG and IP3 signaling ⁶⁶ G-protein mediated events ⁶⁶ Opioid Signalling ⁶⁶ PLC beta mediated events ⁶⁶ Signal transduction Calcium signaling ²²	12.68	CAMK2G HDAC4 MAPK1 MEF2A PPP3CA
6	NFAT and Cardiac Hypertrophy ⁶⁴ Show member pathways IGF1R Signaling ⁶⁴ Signaling Involved in Cardiac Hypertrophy ⁶⁴	12.6	CAMK2G IGF1 MAPK1 MEF2A MTOR PPP3CA
7	TNFR1 Pathway ⁶⁴ Show member pathways Apoptosis ⁷⁴ Apoptosis and survival TNFR1 signaling pathway ²² Apoptosis modulation by HSP70 ⁷⁴ Apoptosis through Death Receptors ⁶⁴ Apoptotic Pathways Triggered By HIV1 ⁶⁴ Ceramide signaling pathway ⁶¹ DR3 Signaling ⁶⁴ GITR Pathway ⁶⁴ HIV-1 Nef: Negative effector of Fas and TNF-alpha ⁶¹ Stimulation of the cell death response by PAK-2p34 ⁶⁶ TNF Signaling ⁶⁴ TNF-related weak inducer of apoptosis (TWEAK) signaling pathway ⁷⁴ TRAIL Pathway ⁶⁴ TWEAK Pathway ⁶⁴	12.56	RPS6KB1 PPP3CA MYOD1 MTOR MEF2A MAPK1
8	Angiopoietin-like protein 8 regulatory pathway ⁷⁴ Show member pathways Insulin signaling ⁷⁴ Liver X receptor pathway ⁷⁴	12.46	SRF RPS6KB1 MTOR MAPK1
9	Breast cancer pathway ⁷⁴ Show member pathways Embryonic stem cell pluripotency pathways ⁷⁴	12.4	RPS6KB1 MTOR MAPK1 IGF1
10	Development IGF-1 receptor signaling ²² Show member pathways Immune response IL-4 signaling pathway ²² Signal transduction AKT signaling ²²	12.16	RPS6KB1 MTOR MAPK1 IGF1
11	B Cell Receptor Signaling Pathway ⁶⁷ Show member pathways T Cell Receptor Signaling Pathway ⁶⁷	12.12	RPS6KB1 PPP3CA MTOR MAPK1 CAMK2G
12	Development Endothelin-1/EDNRA transactivation of EGFR ²² Show member pathways Cytoskeleton remodeling FAK signaling ²² Development Endothelin-1/EDNRA signaling ²²	12.1	RPS6KB1 MTOR MAPK1 CAMK2G
13	Apoptosis and survival BAD phosphorylation ²² Show member pathways BAD Phosphorylation ⁶⁴	12.07	RPS6KB1 PPP3CA MAPK1 IGF1
14	Transcription Androgen Receptor nuclear signaling ²² Show member pathways Translation Non-genomic (rapid) action of Androgen Receptor ²²	12.02	RPS6KB1 MTOR MAPK1 IGF1
15	Spinal cord injury ⁷⁴	11.93	PPP3CA MAPK1 LEP
16	MAP Kinase Signaling ³	11.92	SRF MEF2A MAPK1
17	Fragile X syndrome ⁷⁴ Show member pathways Pilocytic astrocytoma ⁷⁴	11.89	RPS6KB1 PPP3CA MTOR MAPK1
18	Senescence and autophagy in cancer ⁷⁴	11.88	MTOR MAPK1 IGF1
19	AMP-activated protein kinase signaling ⁷⁴ Show member pathways AMPK Signaling Pathway ⁶⁷ Leptin and adiponectin ⁷⁴	11.88	RPS6KB1 MTOR MAPK1 LEP HDAC4
20	Translation Translation regulation by Alpha-1 adrenergic receptors ²² Show member pathways Development Activation of ERK by Alpha-1 adrenergic receptors ²²	11.86	RPS6KB1 MTOR MAPK1 CAMK2G
21	Nuclear Events (kinase and transcription factor activation) ⁶⁶ Show member pathways NGF-stimulated transcription ⁶⁶	11.85	SRF MEF2A MAPK1
22	Mesenchymal Stem Cells and Lineage-specific Markers ⁶⁵	11.82	MYOD1 LEP IGF1
23	Thyroid hormones production and peripheral downstream signaling effects ⁷⁴	11.75	RPS6KB1 MTOR MAPK1
24	Clock-controlled autophagy in bone metabolism ⁷⁴	11.73	MTOR LEP IGF1
25	MAPK Signaling: Oxidative Stress ⁶⁵	11.72	PPP3CA MAPK1 CAMK2G
26	Cell differentiation - expanded index ⁷⁴ Show member pathways Cell differentiation - index ⁷⁴	11.72	SRF MYOD1 MEF2A
27	TGF-beta Signaling Pathways ⁶⁵	11.72	MAPK1 MTOR MYOD1 RPS6KB1
28	Signal transduction_Erk Interactions- Inhibition of Erk ²²	11.68	PPP3CA MAPK1 CAMK2G
29	Th17 cell differentiation pathway ⁷⁴	11.64	PPP3CA MTOR MAPK1
30	MicroRNAs in cardiomyocyte hypertrophy ⁷⁴ Show member pathways Cardiac hypertrophic response ⁷⁴	11.6	PPP3CA MTOR MEF2A MAPK1 IGF1 HDAC4
31	BDNF-TrkB signaling ⁷⁴ Show member pathways Synaptic signaling pathways associated with autism spectrum disorder ⁷⁴	11.57	RPS6KB1 MTOR MAPK1
32	Non-Canonical Wnt Pathway ⁶⁷	11.55	PPP3CA MAPK1 CAMK2G
33	Thyroid stimulating hormone (TSH) signaling pathway ⁷⁴	11.54	RPS6KB1 MTOR MAPK1
34	IL-18 signaling pathway ⁷⁴	11.46	MAPK1 MEF2A RPS6KB1
35	Energy metabolism ⁷⁴	11.42	PPP3CA MEF2A CAMK2G
36	Crizotinib Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	11.3	RPS6KB1 MTOR MAPK1
37	miRs in Muscle Cell Differentiation ⁷⁴	11.23	SRF MYOD1 MEF2A
38	CAMKK2 pathway ⁷⁴	11.12	MTOR MAPK1 HDAC4
39	Insulin signaling in adipocytes (diabetic condition) ⁷⁴ Show member pathways IL-4 signaling pathway ⁷⁴ Insulin signaling in adipocytes (normal condition) ⁷⁴	10.93	RPS6KB1 MTOR
40	Disruption of postsynaptic signaling by CNV ⁷⁴	10.92	MAPK1 CAMK2G
41	4-hydroxytamoxifen, dexamethasone, and retinoic acids regulation of p27 expression ⁷⁴	10.92	MTOR MAPK1
42	Sirolimus Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	10.85	MTOR RPS6KB1
43	SRF and miRs in smooth muscle differentiation and proliferation ⁷⁴	10.7	SRF MEF2A
44	Genes targeted by miRNAs in adipocytes ⁷⁴	10.66	SRF IGF1 HDAC4
45	Caloric restriction and aging ⁷⁴	10.59	MTOR IGF1
46	Factors and pathways affecting insulin-like growth factor (IGF1)-Akt signaling ⁷⁴	10.58	RPS6KB1 MTOR MSTN IGF1 FBXO32

Sources

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	Z disc	GO:0030018	9.17	TTN PPP3CA HDAC4 FBXO32

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

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of gene expression	GO:0010628	10.3	IGF1 MAPK1 MEF2A MTOR PPP3CA TTN
2	positive regulation of smooth muscle cell proliferation	GO:0048661	9.93	RPS6KB1 IGF1 HDAC4
3	cellular response to dexamethasone stimulus	GO:0071549	9.88	FBXO32 MSTN RPS6KB1
4	response to denervation involved in regulation of muscle adaptation	GO:0014894	9.86	HDAC4 FBXO32
5	response to heat	GO:0009408	9.86	RPS6KB1 MTOR MSTN IGF1
6	regulation of protein phosphorylation	GO:0001932	9.85	MTOR LEP IGF1
7	muscle organ development	GO:0007517	9.85	FHL1 IGF1 MEF2A MSTN MYOD1
8	positive regulation of lamellipodium assembly	GO:0010592	9.83	HDAC4 MSTN MTOR
9	bone mineralization involved in bone maturation	GO:0035630	9.81	LEP IGF1
10	skeletal muscle atrophy	GO:0014732	9.8	RPS6KB1 MSTN
11	myotube cell development	GO:0014904	9.78	MYOD1 IGF1
12	positive regulation of smooth muscle cell migration	GO:0014911	9.77	RPS6KB1 IGF1 HDAC4
13	negative regulation of myoblast proliferation	GO:2000818	9.76	MYOD1 MSTN
14	positive regulation of cardiac muscle hypertrophy	GO:0010613	9.5	PPP3CA MTPN MEF2A IGF1
15	negative regulation of metabolic process	GO:0009892	9.32	MTOR LEP
16	skeletal muscle tissue regeneration	GO:0043403	9.1	PPP3CA MYOD1 MTPN MSTN

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

#	Name	GO ID	Score	Top Affiliating Genes
1	protein dimerization activity	GO:0046983	9.35	SRF PPP3CA MYOD1 MEF2A
2	calcium-dependent protein serine/threonine phosphatase activity	GO:0004723	8.8	PPP3CA CAMK2G