MSLHP
MCID: MSC007
MIFTS: 64

Muscle Hypertrophy (MSLHP)

Categories: Genetic diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Muscle Hypertrophy

MalaCards integrated aliases for Muscle Hypertrophy:

Name: Muscle Hypertrophy 57 75 29 13 6 40
Hypertrophy 44 73
Mslhp 57 75
Myostatin-Related Muscle Hypertrophy 59

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
Orphanet 59 ORPHA275534
UMLS via Orphanet 74 C2931112
SNOMED-CT via HPO 69 258211005
UMLS 73 C0020564

Summaries for Muscle Hypertrophy

UniProtKB/Swiss-Prot : 75 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 sleep apnea and aortic valve disease 2, 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 Acetylcholine and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and smooth muscle, and related phenotypes are skeletal muscle hypertrophy and Decreased viability with paclitaxel

Wikipedia : 76 Muscle hypertrophy involves an increase in size of skeletal muscle through a growth in size of its... more...

Description from OMIM: 614160

Related Diseases for Muscle Hypertrophy

Diseases in the Muscle Hypertrophy family:

Myostatin-Related Muscle Hypertrophy

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

(show top 50) (show all 740)
# Related Disease Score Top Affiliating Genes
1 sleep apnea 30.3 EDN1 IGF1 LEP
2 aortic valve disease 2 29.9 AGT MYH7 NPPA
3 hypertension, essential 29.9 AGT EDN1 LEP NPPA SLC9A1
4 congestive heart failure 29.7 EDN1 MYH6 MYH7 NPPA
5 arteries, anomalies of 29.6 AGT EDN1 LEP
6 heart disease 29.6 EDN1 GATA6 IGF1 MEF2A MYH6 MYH7
7 autosomal dominant polycystic kidney disease 29.6 AGT EDN1 IGF1 MTOR
8 malignant hypertension 29.6 AGT EDN1 NPPA
9 diabetes mellitus 29.5 AGT EDN1 GATA6 IGF1 LEP MTOR
10 diabetes mellitus, noninsulin-dependent 29.3 AGT EDN1 FOXO1 IGF1 LEP
11 body mass index quantitative trait locus 11 29.1 AGT IGF1 LEP MSTN MTOR
12 chronic kidney failure 29.1 AGT EDN1 IGF1 LEP NPPA
13 pre-eclampsia 29.0 AGT EDN1 LEP NPPA
14 dilated cardiomyopathy 28.5 AGT EDN1 FBXO32 IGF1 MEF2A MTPN
15 myostatin-related muscle hypertrophy 12.7
16 adenoid hypertrophy 12.5
17 hypertrophy of the breast, juvenile 12.4
18 masticatory muscles, hypertrophy of 12.4
19 hypertrophy of breast 12.4
20 prostatic hypertrophy 12.3
21 gingival hypertrophy 12.2
22 kidney hypertrophy 12.2
23 cardiomyopathy, familial hypertrophic, 1 12.1
24 hypertrophy of tongue papillae 12.1
25 lower limb hypertrophy 12.1
26 upper limb hypertrophy 12.1
27 muscular hypertrophy-hepatomegaly-polyhydramnios syndrome 11.9
28 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome 11.9
29 klippel-trenaunay-weber syndrome 11.8
30 tetralogy of fallot 11.7
31 hemifacial hyperplasia 11.7
32 hyperostosis 11.6
33 gigantomastia 11.6
34 rutherfurd syndrome 11.3
35 pulmonary hypertension, primary, 1 11.3
36 parkes weber syndrome 11.3
37 acanthosis nigricans with muscle cramps and acral enlargement 11.3
38 gastritis, familial giant hypertrophic 11.2
39 fabry disease 11.2
40 patent foramen ovale 11.1
41 elephantiasis 11.1
42 myopathy, x-linked, with postural muscle atrophy 11.1
43 myotonia congenita, autosomal recessive 11.0
44 cardiomyopathy, familial hypertrophic, 21 11.0
45 myotonia congenita, autosomal dominant 11.0
46 hyaline fibromatosis syndrome 11.0
47 cantu syndrome 11.0
48 multicentric osteolysis, nodulosis, and arthropathy 11.0
49 winchester syndrome 11.0
50 cardiomyopathy, familial hypertrophic, 6 11.0

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



Diseases related to Muscle Hypertrophy

Symptoms & Phenotypes for Muscle Hypertrophy

Clinical features from OMIM:

614160

Human phenotypes related to Muscle Hypertrophy:

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

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.34 AGT EDN1 FHL1 FOXO1 GATA6 IGF1
2 growth/size/body region MP:0005378 10.25 AGT EDN1 FHL1 FOXO1 GATA6 HDAC4
3 homeostasis/metabolism MP:0005376 10.21 AGT EDN1 FHL1 FOXO1 GATA6 IGF1
4 behavior/neurological MP:0005386 10.2 AGT FHL1 FOXO1 HDAC4 LEP MEF2A
5 mortality/aging MP:0010768 10.1 AGT EDN1 FOXO1 GATA6 HDAC4 IGF1
6 muscle MP:0005369 10.09 AGT EDN1 FBXO32 FHL1 FOXO1 GATA6
7 adipose tissue MP:0005375 10.02 AGT FOXO1 IGF1 KLF15 LEP MSTN
8 liver/biliary system MP:0005370 9.92 AGT FOXO1 GATA6 KLF15 LEP MSTN
9 normal MP:0002873 9.56 EDN1 FOXO1 GATA6 IGF1 MEF2A MTOR
10 renal/urinary system MP:0005367 9.28 AGT EDN1 IGF1 KLF15 LEP MSTN

Drugs & Therapeutics for Muscle Hypertrophy

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

(show top 50) (show all 56)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Not Applicable 51-84-3 187
2
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
3 incobotulinumtoxinA Phase 4
4 Cholinergic Agents Phase 4,Phase 3,Phase 2,Not Applicable
5 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
6 abobotulinumtoxinA Phase 4,Phase 3,Phase 2,Not Applicable
7 onabotulinumtoxinA Phase 4,Phase 3,Phase 2,Not Applicable
8 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
9 Neuromuscular Agents Phase 4,Phase 3,Phase 2,Not Applicable
10 Botulinum Toxins, Type A Phase 4,Phase 3,Phase 2,Not Applicable
11 Acetylcholine Release Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
12 Botulinum Toxins Phase 4,Phase 3,Phase 2,Not Applicable
13 Diuretics, Potassium Sparing Phase 4
14 Anesthetics, Local Phase 4
15 Anti-Arrhythmia Agents Phase 4
16 Anesthetics Phase 4
17 Sodium Channel Blockers Phase 4
18 Central Nervous System Depressants Phase 4
19
Creatine Approved, Investigational, Nutraceutical Phase 3 57-00-1 586
20 Liver Extracts Phase 3,Not Applicable
21
Ethanol Approved Phase 2 64-17-5 702
22 insulin Phase 2,Not Applicable
23 Pharmaceutical Solutions Phase 2,Not Applicable
24 Insulin, Globin Zinc Phase 2,Not Applicable
25
Adenosine Approved, Investigational Not Applicable 58-61-7 60961
26
Clenbuterol Approved, Investigational, Vet_approved Not Applicable 37148-27-9 2783
27
Terbutaline Approved Not Applicable 23031-25-6 5403
28 tannic acid Approved Not Applicable
29
Benzocaine Approved, Investigational Not Applicable 94-09-7, 1994-09-7 2337
30
Testosterone Approved, Investigational Not Applicable 58-22-0 6013
31
Glycine Approved, Nutraceutical, Vet_approved Not Applicable 56-40-6 750
32 Anti-Asthmatic Agents Not Applicable
33 Adrenergic beta-Agonists Not Applicable
34 Albuterol Not Applicable
35 Autonomic Agents Not Applicable
36 Adrenergic Agonists Not Applicable
37 Respiratory System Agents Not Applicable
38 Tocolytic Agents Not Applicable
39 Bronchodilator Agents Not Applicable
40 Adrenergic Agents Not Applicable
41 Adrenergic beta-2 Receptor Agonists Not Applicable
42 Whey Protein Not Applicable
43 Soy Bean Not Applicable
44 leucine Not Applicable
45 beta-Hydroxy-beta-methylbutyrate Not Applicable
46 Caseins Not Applicable
47 Linoleate Not Applicable
48 Calcium, Dietary Not Applicable
49 Chelating Agents Not Applicable
50 Sympathomimetics Not Applicable

Interventional clinical trials:

(show top 50) (show all 62)
# Name Status NCT ID Phase Drugs
1 Xeomin Cosmetic in the Management of Masseter Completed NCT03376464 Phase 4
2 Efficacy of Botulinum Toxin Versus Lidocaine in Treating Masticatory Myofascial Face Pain Using Ultrasound and EMG Guided Techniques Terminated NCT00992108 Phase 4 lidocaine;chemodenervation
3 Effectiveness of Creatine Supplementation and Exercise on Muscle and Bone Completed NCT01057680 Phase 3
4 Effects of Kneehab 12-week Peri-operative Total Knee Arthroplasty Completed NCT01096524 Phase 3
5 MEDITOXIN® Treatment in Subject With Benign Masseteric Hypertrophy Not yet recruiting NCT03452345 Phase 3 Meditoxin;Placebo
6 Egg Cholesterol Consumption, Blood Cholesterol and Skeletal Muscle Hypertrophy Unknown status NCT00260442 Phase 2
7 Botulinum Toxin Type A (BOTOX®) Treatment of Masseter Muscle Hypertrophy Completed NCT02010775 Phase 2 Normal saline
8 The Effect of Neuromuscular Electrical Stimulation (NMES) Completed NCT00765739 Phase 2
9 Treatment of Temporo-Myofascial Disorder of Muscular Origin Using Botulinum Toxin: A Prospective Study Not yet recruiting NCT02810015 Phase 2 Botulinum Toxin Type A
10 Characterization of the Changes in the Signalling Pathways During Spinal Cord Injury-induced Skeletal Muscle Atrophy Unknown status NCT01470950 Not Applicable
11 Pascal Pascal Dynamic Contour Tonometer (DCT) Intraocular Pressure and Ocular Pulse Amplitude in Patients With Thyroid Related Orbitopathy: A Comparison to Goldmann Tonometer and to Muscles Characteristics on CT Scan Unknown status NCT00646295 Not Applicable
12 Survey of Patients With Idiopathic Orbital Inflammation Syndrome Unknown status NCT01443000
13 Chronic Beta2-adrenergic Stimulation and Cardiac and Skeletal Muscle Hypertrophy Completed NCT02551276 Not Applicable Salbutamol;Placebo
14 Maximizing Mechanisms of Muscle Hypertrophy to Combat Sarcopenia in Older Adults Completed NCT02442479 Not Applicable
15 Leucine or Protein Supplementation and Resistance Training Completed NCT03501628 Not Applicable
16 Effectiveness of NMES Associated to Vascular Occlusion in Functional Performance and Muscle Hypertrophy in Athlete's Completed NCT02406339 Not Applicable
17 The Effects of Lifting Light or Heavy Weights on Muscle Growth and Strength in Trained Young Men Completed NCT02139865 Not Applicable
18 The Effect of Insect Protein on Performance and Hypertrophy Completed NCT03034239 Not Applicable
19 The Effects of HMB, ATP, and HMB Plus ATP on Muscle Mass, Strength, and Power in Resistance Trained Athletes Completed NCT01508338 Not Applicable
20 Post-exercise Recovery After Dietary Protein Ingestion in Healthy Young Men (Meat-Milk Study) Completed NCT01578590 Not Applicable
21 Protein Nutrition for Muscle Hypertrophy in Older Adults Completed NCT02315391 Not Applicable
22 Comparison of 1 vs 3 Sets of Resistance Training on Muscular Hypertrophy Completed NCT01107691 Not Applicable
23 Overeating Different Fats and Influence on Muscle Mass and Body Fat Accumulation Completed NCT02211612 Not Applicable
24 Whole Milk Versus Whey Protein Supplement and Resistance Exercise Completed NCT01580189 Not Applicable
25 The Use of Neuromuscular Electrical Stimulation to Reverse Muscle Atrophy in Patients With Rheumatoid Arthritis Completed NCT00924625 Not Applicable
26 Protein Supply in Elderly Completed NCT01317511 Not Applicable
27 Effects of Native Whey or Milk Supplementation on Adaptations to 12 Weeks of Strength Training in Young and Elderly Completed NCT03033953 Not Applicable
28 Electrostimulation, Skeletal Muscle Function, and Exercise Capacity in Chronic Obstructive Pulmonary Disease (COPD) Completed NCT00874965 Not Applicable
29 HIV Posterior Cheek Enlargement Completed NCT01635504 Not Applicable
30 Get in Shape in the Team Research: Porukalla Kuntoon Tutkimus Completed NCT02413112 Not Applicable
31 Postprandial Muscle Protein Synthesis Following Wheat Protein Ingestion in Vivo in Humans Completed NCT01952639 Not Applicable
32 Exercise Intermittent Isometric Handgrip and Blood Flow Restriction Completed NCT02384161 Not Applicable
33 Descriptive Study of Knee Joint Pain During Strength Training After Total Knee Arthroplasty Completed NCT01729520 Not Applicable
34 Muscle MRI in Becker Muscular Dystrophy and in Limb-girdle Muscular Dystrophy Type 2I Completed NCT02165358
35 Time-Restricted Feeding Plus Resistance Training in Active Females Completed NCT03404271 Not Applicable
36 Individual Response to Different Volumes of Resistance Training Completed NCT02179307 Not Applicable
37 Effects of Resistance Training on Physical Performance, Health and Quality of Life in Elderly (RTCHealth) Completed NCT03551132 Not Applicable
38 High Intensity Interval Training or Strength Training in Women With Polycystic Ovary Syndrome Completed NCT01919281 Not Applicable
39 Effective Training in Overweight and Obese People Completed NCT00218920 Not Applicable
40 Effects of Casein Timing on Body Composition and Performance Completed NCT03352583 Not Applicable
41 DAHANCA 25B: Progressive Resistance Training as Intervention for Regaining Muscle Mass After Radiation Therapy in Patients With HNSCC Completed NCT01509430 Not Applicable
42 Skeletal Muscle Hypertrophy and Cardio-Metabolic Benefits After Spinal Cord Injury Recruiting NCT02660073 Not Applicable
43 cAMP Signaling and Muscle Adaptations Recruiting NCT02557581 Not Applicable Terbutaline;Clenbuterol;Placebo
44 Blood Flow Restriction Training in Patients With Weight Bearing Restrictions After Knee Surgery Recruiting NCT03371901 Not Applicable
45 Low Intensity Resistance Training With Vascular Occlusion in Coronary Heart Disease Patients Recruiting NCT03087292 Not Applicable
46 Physical Therapy for Anal Incontinence Recruiting NCT03252951 Not Applicable
47 BFR and Muscle Mitochondrial Oxidative Capacity Recruiting NCT03723226 Not Applicable
48 Upper- and Lower-body Resistance Exercise With and Without Blood Flow Restriction on Hemodynamics and Vascular Function Recruiting NCT03225898 Not Applicable
49 Activity Dependent Rehabilitation Model to Improve Bone and Muscle Outcomes Recruiting NCT02309983 Not Applicable
50 Exercise and Nutrition Interventions in Age-related Sarcopenia Recruiting NCT02912130 Not Applicable

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, Smooth Muscle, Liver, Spinal Cord, Kidney, Prostate

Publications for Muscle Hypertrophy

Articles related to Muscle Hypertrophy:

(show top 50) (show all 1520)
# Title Authors Year
1
Regulation of Ribosome Biogenesis in Skeletal Muscle Hypertrophy. ( 30540235 )
2019
2
Ginsenoside Rd contributes the attenuation of cardiac hypertrophy in vivo and in vitro. ( 30551351 )
2019
3
Comparison of effects of MHBFC on cardiac hypertrophy after banding of the abdominal aorta in wild-type mice and eNOS knockout mice. ( 30551372 )
2019
4
EETs/PPARs activation together mediates the preventive effect of naringenin in high glucose-induced cardiomyocyte hypertrophy. ( 30551401 )
2019
5
Whole transcriptome sequencing reveals biologically significant RNA markers and related regulating biological pathways in cardiomyocyte hypertrophy induced by high glucose. ( 30242883 )
2019
6
Microbiota-derived lipopolysaccharide retards chondrocyte hypertrophy in the growth plate through elevating Sox9 expression. ( 30264889 )
2019
7
1H NMR-based dynamic metabolomics delineates the therapeutic effects of Baoyuan decoction on isoproterenol-induced cardiac hypertrophy. ( 30286437 )
2019
8
Right ventricular hypertrophy and hpertrabeculation misdiagnosed as a right ventricular mass on echocardiography. ( 30377455 )
2019
9
The role of chondroitin sulfate in regulating hypertrophy during MSC chondrogenesis in a cartilage mimetic hydrogel under dynamic loading. ( 30391802 )
2019
10
Galectin-1 attenuates cardiomyocyte hypertrophy through splice-variant specific modulation of CaV1.2 calcium channel. ( 30463690 )
2019
11
Lentiviral vector expression of Klf4 enhances chondrogenesis and reduces hypertrophy in equine chondrocytes. ( 30205175 )
2019
12
Calf muscle hypertrophy following S1 radiculopathy: A stress disorder caused by hyperactivity with variable response to treatmen. ( 29451471 )
2018
13
Commentary: Blockade of activin type II receptors with a dual anti-ActRIIA/IIB antibody is critical to promote maximal skeletal muscle hypertrophy. ( 29726548 )
2018
14
A mathematical model of the effects of resistance exercise-induced muscle hypertrophy on body composition. ( 29256047 )
2018
15
Non-osteogenic muscle hypertrophy in children with McArdle disease. ( 29594644 )
2018
16
Effect of 8-week leucine supplementation and resistance exercise training on muscle hypertrophy and satellite cell activation in rats. ( 29952091 )
2018
17
The development of skeletal muscle hypertrophy through resistance training: the role of muscle damage and muscle protein synthesis. ( 29282529 )
2018
18
Recent Perspectives Regarding the Role of Dietary Protein for the Promotion of Muscle Hypertrophy with Resistance Exercise Training. ( 29414855 )
2018
19
Titin-based mechanosensing modulates muscle hypertrophy. ( 29978560 )
2018
20
Isolated unilateral temporalis muscle hypertrophy in a child: a case report with literature review. ( 29458353 )
2018
21
Effects of contraction mode and stimulation frequency on electrical stimulation-induced skeletal muscle hypertrophy. ( 29074713 )
2018
22
Incorporation of a skeletal muscle-specific enhancer in the regulatory region of Igf1 upregulates IGF1 expression and induces skeletal muscle hypertrophy. ( 29426944 )
2018
23
Biomarkers associated with low, moderate, and high vastus lateralis muscle hypertrophy following 12 weeks of resistance training. ( 29621305 )
2018
24
Muscle hypertrophy following blood flow-restricted low force isometric electrical stimulation in rat tibialis anterior: Role for muscle hypoxia. ( 29565774 )
2018
25
Potential Roles of Vascular Endothelial Growth Factor During Skeletal Muscle Hypertrophy. ( 29652692 )
2018
26
The role of hormones in muscle hypertrophy. ( 29172848 )
2018
27
Coffee consumption promotes skeletal muscle hypertrophy and myoblast differentiation. ( 29359224 )
2018
28
I^-Secretase Inhibition Induces Muscle Hypertrophy in a Notch-Independent Mechanism. ( 29280566 )
2018
29
Akt1 deficiency diminishes skeletal muscle hypertrophy by reducing satellite cell proliferation. ( 29443546 )
2018
30
Correction to: A mathematical model of the effects of resistance exercise-induced muscle hypertrophy on body composition. ( 29948197 )
2018
31
Comment on: Volume for Muscle Hypertrophy and Health Outcomes: The Most Effective Variable in Resistance Training. ( 29396783 )
2018
32
Author's Reply to Souza et al: Comment on: "Volume for Muscle Hypertrophy and Health Outcomes: The Most Effective Variable in Resistance Training". ( 29396782 )
2018
33
Risk of left ventricular hypertrophy and diastolic and systolic dysfunction in Acromegaly: A meta-analysis. ( 29097130 )
2018
34
Identification of drug repurposing candidates based on a miRNA-mediated drug and pathway network for cardiac hypertrophy and acute myocardial infarction. ( 30514363 )
2018
35
Construction of a microRNA‑associated feed‑forward loop network that identifies regulators of cardiac hypertrophy and acute myocardial infarction. ( 30066833 )
2018
36
Adenoid hypertrophy in children and allergic rhinitis. ( 28887688 )
2018
37
CYSLTR1 promotes adenoid hypertrophy by activating ERK1/2. ( 30116346 )
2018
38
The relationship between adenoid hypertrophy and gastroesophageal reflux disease: A meta-analysis. ( 30313042 )
2018
39
Adenoid hypertrophy affects screening for primary ciliary dyskinesia using nasal nitric oxide. ( 30368395 )
2018
40
ATYPICAL CONGENITAL HYPERTROPHY OF THE RETINAL PIGMENT EPITHELIUM COMPLICATED BY PRESUMED RETINAL PIGMENT EPITHELIAL ADENOMA AND EXUDATIVE MACULOPATHY. ( 30063581 )
2018
41
Do turbinate reduction procedures restore epithelial integrity in patients with turbinate hypertrophy secondary to allergic rhinitis? A histopathological study. ( 29600318 )
2018
42
Non-Val30Met mutation, septal hypertrophy, and cardiac denervation in patients with mutant transthyretin amyloidosis. ( 30284755 )
2018
43
Biventricular assessment of light-chain amyloidosis using 3D speckle tracking echocardiography: Differentiation from other forms of myocardial hypertrophy. ( 30049493 )
2018
44
Prevalence, Incidence, and Contributors of Subclinical Atheromatosis, Arteriosclerosis, and Arterial Hypertrophy in HIV-Infected Individuals: A Single-Center, 3-Year Prospective Study. ( 30235944 )
2018
45
Is synovial hypertrophy without Doppler activity sensitive to change? Post-hoc analysis from a rheumatoid arthritis ultrasound study. ( 30285845 )
2018
46
Activin Receptor-Like Kinase 4 Haplodeficiency Mitigates Arrhythmogenic Atrial Remodeling and Vulnerability to Atrial Fibrillation in Cardiac Pathological Hypertrophy. ( 30369314 )
2018
47
A case report of cardia cancer complicated with idiopathic muscular hypertrophy of the oesophagus treated with thoracoscopic surgery. ( 29067940 )
2018
48
Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy. ( 30065953 )
2018
49
Incidental Finding of Lipomatous Hypertrophy of the Interatrial Septum during 18F-Fluorodeoxyglucose Positron Emission Tomography-Computed Tomography for Cervical Cancer. ( 30386070 )
2018
50
Effect of early correction of nasal septal deformity in unilateral cleft lip and palate on inferior turbinate hypertrophy and nasal patency. ( 29605353 )
2018

Variations for Muscle Hypertrophy

ClinVar genetic disease variations for Muscle Hypertrophy:

6 (show top 50) (show all 68)
# Gene Variation Type Significance SNP ID Assembly Location
1 MSTN NM_005259.2(MSTN): c.373+5G> A single nucleotide variant Pathogenic rs397515373 GRCh37 Chromosome 2, 190926945: 190926945
2 MSTN NM_005259.2(MSTN): c.373+5G> A single nucleotide variant Pathogenic rs397515373 GRCh38 Chromosome 2, 190062219: 190062219
3 MSTN NM_005259.2(MSTN): c.163G> A (p.Ala55Thr) single nucleotide variant Benign rs1805085 GRCh37 Chromosome 2, 190927160: 190927160
4 MSTN NM_005259.2(MSTN): c.163G> A (p.Ala55Thr) single nucleotide variant Benign rs1805085 GRCh38 Chromosome 2, 190062434: 190062434
5 MSTN NM_005259.2(MSTN): c.458A> G (p.Lys153Arg) single nucleotide variant Benign rs1805086 GRCh37 Chromosome 2, 190925077: 190925077
6 MSTN NM_005259.2(MSTN): c.458A> G (p.Lys153Arg) single nucleotide variant Benign rs1805086 GRCh38 Chromosome 2, 190060351: 190060351
7 MSTN NM_005259.2(MSTN): c.*697T> C single nucleotide variant Likely benign rs186458339 GRCh38 Chromosome 2, 190056561: 190056561
8 MSTN NM_005259.2(MSTN): c.*697T> C single nucleotide variant Likely benign rs186458339 GRCh37 Chromosome 2, 190921287: 190921287
9 MSTN NM_005259.2(MSTN): c.*493G> A single nucleotide variant Benign rs16832285 GRCh38 Chromosome 2, 190056765: 190056765
10 MSTN NM_005259.2(MSTN): c.*493G> A single nucleotide variant Benign rs16832285 GRCh37 Chromosome 2, 190921491: 190921491
11 MSTN NM_005259.2(MSTN): c.*290C> T single nucleotide variant Likely benign rs537956645 GRCh38 Chromosome 2, 190056968: 190056968
12 MSTN NM_005259.2(MSTN): c.306C> T (p.Ser102=) single nucleotide variant Likely benign rs34191156 GRCh38 Chromosome 2, 190062291: 190062291
13 MSTN NM_005259.2(MSTN): c.*1332A> G single nucleotide variant Benign rs3791782 GRCh38 Chromosome 2, 190055926: 190055926
14 MSTN NM_005259.2(MSTN): c.*1332A> G single nucleotide variant Benign rs3791782 GRCh37 Chromosome 2, 190920652: 190920652
15 MSTN NM_005259.2(MSTN): c.1062T> C (p.Asn354=) single nucleotide variant Uncertain significance rs761053215 GRCh37 Chromosome 2, 190922050: 190922050
16 MSTN NM_005259.2(MSTN): c.1062T> C (p.Asn354=) single nucleotide variant Uncertain significance rs761053215 GRCh38 Chromosome 2, 190057324: 190057324
17 MSTN NM_005259.2(MSTN): c.386T> G (p.Met129Arg) single nucleotide variant Likely benign rs142195885 GRCh37 Chromosome 2, 190925149: 190925149
18 MSTN NM_005259.2(MSTN): c.386T> G (p.Met129Arg) single nucleotide variant Likely benign rs142195885 GRCh38 Chromosome 2, 190060423: 190060423
19 MSTN NM_005259.2(MSTN): c.306C> T (p.Ser102=) single nucleotide variant Likely benign rs34191156 GRCh37 Chromosome 2, 190927017: 190927017
20 MSTN NM_005259.2(MSTN): c.263G> A (p.Arg88Gln) single nucleotide variant Likely benign rs138343163 GRCh37 Chromosome 2, 190927060: 190927060
21 MSTN NM_005259.2(MSTN): c.263G> A (p.Arg88Gln) single nucleotide variant Likely benign rs138343163 GRCh38 Chromosome 2, 190062334: 190062334
22 MSTN NM_005259.2(MSTN): c.-41_-39delGAA deletion Likely benign rs772646099 GRCh37 Chromosome 2, 190927361: 190927363
23 MSTN NM_005259.2(MSTN): c.-41_-39delGAA deletion Likely benign rs772646099 GRCh38 Chromosome 2, 190062635: 190062637
24 MSTN NM_005259.2(MSTN): c.*1450T> C single nucleotide variant Likely benign rs144167726 GRCh38 Chromosome 2, 190055808: 190055808
25 MSTN NM_005259.2(MSTN): c.*1450T> C single nucleotide variant Likely benign rs144167726 GRCh37 Chromosome 2, 190920534: 190920534
26 MSTN NM_005259.2(MSTN): c.*1073G> T single nucleotide variant Uncertain significance rs886055370 GRCh38 Chromosome 2, 190056185: 190056185
27 MSTN NM_005259.2(MSTN): c.*1073G> T single nucleotide variant Uncertain significance rs886055370 GRCh37 Chromosome 2, 190920911: 190920911
28 MSTN NM_005259.2(MSTN): c.*923T> C single nucleotide variant Uncertain significance rs886055371 GRCh38 Chromosome 2, 190056335: 190056335
29 MSTN NM_005259.2(MSTN): c.*923T> C single nucleotide variant Uncertain significance rs886055371 GRCh37 Chromosome 2, 190921061: 190921061
30 MSTN NM_005259.2(MSTN): c.*574G> A single nucleotide variant Likely benign rs114597606 GRCh38 Chromosome 2, 190056684: 190056684
31 MSTN NM_005259.2(MSTN): c.*574G> A single nucleotide variant Likely benign rs114597606 GRCh37 Chromosome 2, 190921410: 190921410
32 MSTN NM_005259.2(MSTN): c.*395A> C single nucleotide variant Benign rs16823986 GRCh38 Chromosome 2, 190056863: 190056863
33 MSTN NM_005259.2(MSTN): c.*395A> C single nucleotide variant Benign rs16823986 GRCh37 Chromosome 2, 190921589: 190921589
34 MSTN NM_005259.2(MSTN): c.*259A> G single nucleotide variant Likely benign rs578136956 GRCh38 Chromosome 2, 190056999: 190056999
35 MSTN NM_005259.2(MSTN): c.*259A> G single nucleotide variant Likely benign rs578136956 GRCh37 Chromosome 2, 190921725: 190921725
36 MSTN NM_005259.2(MSTN): c.748-3C> T single nucleotide variant Uncertain significance rs374256136 GRCh37 Chromosome 2, 190922367: 190922367
37 MSTN NM_005259.2(MSTN): c.748-3C> T single nucleotide variant Uncertain significance rs374256136 GRCh38 Chromosome 2, 190057641: 190057641
38 MSTN NM_005259.2(MSTN): c.551C> T (p.Thr184Ile) single nucleotide variant Uncertain significance rs369290669 GRCh37 Chromosome 2, 190924984: 190924984
39 MSTN NM_005259.2(MSTN): c.551C> T (p.Thr184Ile) single nucleotide variant Uncertain significance rs369290669 GRCh38 Chromosome 2, 190060258: 190060258
40 MSTN NM_005259.2(MSTN): c.466C> A (p.Leu156Ile) single nucleotide variant Likely benign rs35493945 GRCh37 Chromosome 2, 190925069: 190925069
41 MSTN NM_005259.2(MSTN): c.466C> A (p.Leu156Ile) single nucleotide variant Likely benign rs35493945 GRCh38 Chromosome 2, 190060343: 190060343
42 MSTN NM_005259.2(MSTN): c.-17A> C single nucleotide variant Uncertain significance rs201887141 GRCh37 Chromosome 2, 190927339: 190927339
43 MSTN NM_005259.2(MSTN): c.-17A> C single nucleotide variant Uncertain significance rs201887141 GRCh38 Chromosome 2, 190062613: 190062613
44 MSTN NM_005259.2(MSTN): c.*290C> T single nucleotide variant Likely benign rs537956645 GRCh37 Chromosome 2, 190921694: 190921694
45 MSTN NM_005259.2(MSTN): c.*1362A> G single nucleotide variant Likely benign rs377503267 GRCh38 Chromosome 2, 190055896: 190055896
46 MSTN NM_005259.2(MSTN): c.*1362A> G single nucleotide variant Likely benign rs377503267 GRCh37 Chromosome 2, 190920622: 190920622
47 MSTN NM_005259.2(MSTN): c.*135G> A single nucleotide variant Benign rs60490864 GRCh38 Chromosome 2, 190057123: 190057123
48 MSTN NM_005259.2(MSTN): c.*135G> A single nucleotide variant Benign rs60490864 GRCh37 Chromosome 2, 190921849: 190921849
49 MSTN NM_005259.2(MSTN): c.*121A> G single nucleotide variant Uncertain significance rs886055372 GRCh37 Chromosome 2, 190921863: 190921863
50 MSTN NM_005259.2(MSTN): c.*121A> G single nucleotide variant Uncertain significance rs886055372 GRCh38 Chromosome 2, 190057137: 190057137

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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.69 AGT EDN1 IGF1 MEF2A MTOR
2
Show member pathways
12.25 FOXO1 HDAC4 IGF1 LEP MTOR
3
Show member pathways
11.94 HDAC4 IGF1 MEF2A MTOR
4
Show member pathways
11.92 FBXO32 FOXO1 IGF1 SMAD4
5 11.82 FOXO1 MTOR MYH6 SLC9A1
6 11.81 FOXO1 IGF1 MTOR
7 11.79 HDAC4 MEF2A MTOR SLC9A1 SMAD4
8 11.78 IGF1 MTOR SMAD4
9 11.74 EDN1 FOXO1 SMAD4
10 11.71 FOXO1 MTOR SMAD4
11 11.67 EDN1 IGF1 MTOR NPPA
12 11.6 MYH6 MYH7 SLC9A1
13 11.55 AGT FOXO1 IGF1 KLF15 LEP MEF2A
14 11.51 EDN1 LEP SMAD4
15
Show member pathways
11.37 AGT EDN1 HDAC4 IGF1 MEF2A MTOR
16 11.36 IGF1 MYH6 MYH7 SLC9A1
17
Show member pathways
11 EDN1 IGF1 MTOR
18 10.95 FBXO32 IGF1 MSTN MTOR
19 10.84 MYH7 NPPA SMAD4

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 9.83 AGT EDN1 FBXO32 FHL1 FOXO1 HDAC4
2 sarcomere GO:0030017 9.33 HDAC4 MYH6 MYH7
3 myosin filament GO:0032982 9.32 MYH6 MYH7
4 muscle myosin complex GO:0005859 9.26 MYH6 MYH7
5 Z disc GO:0030018 8.92 FBXO32 HDAC4 MYH6 MYH7

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

(show top 50) (show all 51)
# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.95 EDN1 GATA6 MYH6 SMAD4
2 response to hypoxia GO:0001666 9.94 EDN1 LEP NPPA SMAD4
3 cellular response to hypoxia GO:0071456 9.88 EDN1 GATA6 MTOR SLC9A1
4 negative regulation of cell growth GO:0030308 9.88 AGT FHL1 NPPA SMAD4
5 female pregnancy GO:0007565 9.86 AGT LEP NPPA
6 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.85 AGT IGF1 MTOR
7 muscle organ development GO:0007517 9.85 FHL1 IGF1 MEF2A MSTN
8 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.81 AGT EDN1 IGF1
9 positive regulation of transcription, DNA-templated GO:0045893 9.81 AGT FOXO1 GATA6 HDAC4 IGF1 KLF15
10 cardiac muscle contraction GO:0060048 9.8 MTOR MYH6 MYH7
11 response to insulin GO:0032868 9.8 FOXO1 LEP MTOR NPPA
12 response to activity GO:0014823 9.79 EDN1 LEP MTOR
13 positive regulation of nitric oxide biosynthetic process GO:0045429 9.79 AGT EDN1 MTOR
14 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.78 AGT IGF1 LEP MYOC
15 positive regulation of glucose import GO:0046326 9.77 IGF1 KLF15 MEF2A
16 regulation of heart rate GO:0002027 9.77 AGT MYH6 MYH7
17 cellular response to dexamethasone stimulus GO:0071549 9.74 FBXO32 FOXO1 MSTN
18 cellular response to mechanical stimulus GO:0071260 9.72 AGT HDAC4 MTPN NPPA SLC9A1
19 cardiac muscle tissue development GO:0048738 9.71 GATA6 MTOR
20 cellular sodium ion homeostasis GO:0006883 9.71 AGT SLC9A1
21 positive regulation of calcineurin-NFAT signaling cascade GO:0070886 9.71 IGF1 SLC9A1
22 positive regulation of smooth muscle cell proliferation GO:0048661 9.71 EDN1 HDAC4 IGF1 MTOR
23 vasoconstriction GO:0042310 9.7 AGT EDN1
24 cell growth involved in cardiac muscle cell development GO:0061049 9.7 AGT NPPA
25 regulation of stress fiber assembly GO:0051492 9.7 MYOC SLC9A1
26 striated muscle contraction GO:0006941 9.7 MYH6 MYH7
27 positive regulation of lamellipodium assembly GO:0010592 9.7 HDAC4 MSTN MTOR
28 adult heart development GO:0007512 9.69 MYH6 MYH7
29 energy reserve metabolic process GO:0006112 9.69 LEP MTOR
30 regulation of blood vessel size GO:0050880 9.69 AGT EDN1 NPPA
31 positive regulation of renal sodium excretion GO:0035815 9.68 AGT EDN1
32 response to transforming growth factor beta GO:0071559 9.67 EDN1 SMAD4
33 response to denervation involved in regulation of muscle adaptation GO:0014894 9.67 FBXO32 HDAC4
34 artery smooth muscle contraction GO:0014824 9.67 AGT EDN1
35 negative regulation of smooth muscle cell apoptotic process GO:0034392 9.66 EDN1 IGF1
36 cellular response to cold GO:0070417 9.66 FOXO1 SLC9A1
37 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.65 HDAC4 SLC9A1
38 positive regulation of follicle-stimulating hormone secretion GO:0046881 9.65 LEP SMAD4
39 regulation of blood pressure GO:0008217 9.65 AGT EDN1 LEP MYH6 NPPA
40 bone mineralization involved in bone maturation GO:0035630 9.63 IGF1 LEP
41 regulation of brown fat cell differentiation GO:0090335 9.63 LEP MTOR
42 response to muscle stretch GO:0035994 9.63 EDN1 NPPA SLC9A1
43 positive regulation of luteinizing hormone secretion GO:0033686 9.61 LEP SMAD4
44 positive regulation of cell growth involved in cardiac muscle cell development GO:0061051 9.61 EDN1 IGF1 MTOR
45 positive regulation of cardiac muscle hypertrophy GO:0010613 9.43 AGT EDN1 IGF1 MEF2A MTPN SLC9A1
46 cardiac muscle hypertrophy in response to stress GO:0014898 9.1 GATA6 HDAC4 KLF15 MYH6 MYH7 NPPA
47 negative regulation of transcription by RNA polymerase II GO:0000122 10.1 EDN1 FOXO1 GATA6 HDAC4 LEP MEF2A
48 negative regulation of apoptotic process GO:0043066 10.09 FOXO1 GATA6 IGF1 LEP SLC9A1
49 positive regulation of cell proliferation GO:0008284 10.08 AGT EDN1 HDAC4 IGF1 LEP
50 positive regulation of transcription by RNA polymerase II GO:0045944 10.02 EDN1 FOXO1 GATA6 HDAC4 IGF1 KLF15

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 9.8 GATA6 HDAC4 KLF15 MEF2A SMAD4
2 protein kinase binding GO:0019901 9.77 GATA6 HDAC4 MEF2A MTOR MYH6
3 transcription regulatory region DNA binding GO:0044212 9.73 GATA6 HDAC4 KLF15 SMAD4
4 chromatin binding GO:0003682 9.65 FOXO1 GATA6 HDAC4 MEF2A SMAD4
5 actin-dependent ATPase activity GO:0030898 9.46 MYH6 MYH7
6 sequence-specific DNA binding GO:0043565 9.43 FOXO1 GATA6 HDAC4 MEF2A MTPN SMAD4
7 RNA polymerase II transcription factor binding GO:0001085 9.33 HDAC4 MEF2A SMAD4
8 hormone activity GO:0005179 9.02 AGT EDN1 IGF1 LEP NPPA
9 protein binding GO:0005515 10.25 AGT EDN1 FBXO32 FHL1 FOXO1 GATA6

Sources for Muscle Hypertrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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