MSLHP
MCID: MSC007
MIFTS: 59

Muscle Hypertrophy (MSLHP)

Categories: Genetic diseases, Muscle diseases
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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:



External Ids:

OMIM® 57 614160
UMLS 71 C0020564

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

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:



Diseases related to Muscle Hypertrophy

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

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
1
Azathioprine Approved Phase 4 446-86-6 2265
2
Sorbitol Approved, Investigational Phase 4 69-65-8, 50-70-4 453 6251 5780
3
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6 9578005
4
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
5
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
6
Silicon Approved, Investigational Phase 4 7440-21-3 4082203
7
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
8
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
9
Allopurinol Approved Phase 4 315-30-0 2094 135401907
10
Losartan Approved Phase 4 114798-26-4 3961
11
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
12
Mirabegron Approved Phase 4 223673-61-8 18319735 9865528
13
Benazepril Approved, Investigational Phase 4 86541-75-5 5362124
14
Captopril Approved Phase 4 62571-86-2 44093
15
Everolimus Approved Phase 4 159351-69-6 70789204 6442177
16
Mycophenolic acid Approved, Investigational Phase 4 24280-93-1 446541
17
Tacrolimus Approved, Investigational Phase 4 104987-11-3 6473866 445643
18
Nebivolol Approved, Investigational Phase 4 152520-56-4, 99200-09-6, 118457-14-0 71301
19
Candesartan cilexetil Approved Phase 4 145040-37-5
20
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
21
Metformin Approved Phase 4 1115-70-4, 657-24-9 4091
22
Dutasteride Approved, Investigational Phase 4 164656-23-9 6918296
23
Racephedrine Approved, Experimental Phase 4 299-42-3, 90-82-4, 90-81-3 5032 9294 7028
24
Phenylephrine Approved Phase 4 59-42-7 6041
25
Alfuzosin Approved, Investigational Phase 4 81403-80-7 2092
26
Tocopherol Approved, Investigational Phase 4 1406-66-2
27
Tamsulosin Approved, Investigational Phase 4 106133-20-4 129211
28
Chlorhexidine Approved, Vet_approved, Withdrawn Phase 4 55-56-1 2713 9552079
29
Glyburide Approved Phase 4 10238-21-8 3488
30
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
31
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
32
Mivacurium Approved Phase 4 106791-40-6, 133814-19-4 5281042
33
Silodosin Approved Phase 4 160970-54-7 9891967 5312125
34
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
35
Hydrocortisone succinate Approved Phase 4 2203-97-6 3643
36
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
37
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 3640 5754
38
Petrolatum Approved, Investigational Phase 4 8009-03-8
39
Clobetasol Approved, Experimental, Investigational Phase 4 25122-46-7, 25122-41-2 2791 5311051 32798
40
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
41
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959
42
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
43
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
44
Verapamil Approved Phase 4 152-11-4, 52-53-9 2520
45
Bisoprolol Approved Phase 4 66722-44-9 2405
46
Esmolol Approved, Withdrawn Phase 4 103598-03-4, 81147-92-4 59768
47
Amlodipine Approved Phase 4 88150-42-9 2162
48
Chlorthalidone Approved Phase 4 77-36-1 2732
49
Enalaprilat Approved Phase 4 76420-72-9 6917719 5462501
50
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

Genetic Tests for Muscle Hypertrophy

Anatomical Context for Muscle Hypertrophy

Organs/tissues related to Muscle Hypertrophy:

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

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
15215484 2004
2
Myostatin mutation associated with gross muscle hypertrophy in a child. 53 62 57
15342814 2004
3
A mutation in the myostatin gene increases muscle mass and enhances racing performance in heterozygote dogs. 57
17530926 2007
4
A mutation creating a potential illegitimate microRNA target site in the myostatin gene affects muscularity in sheep. 57
16751773 2006
5
Double muscling in Marchigiana beef breed is caused by a stop codon in the third exon of myostatin gene. 57
12879361 2003
6
Myostatin knockout in mice increases myogenesis and decreases adipogenesis. 57
11855847 2002
7
A deletion in the myostatin gene causes the compact (Cmpt) hypermuscular mutation in mice. 57
9680391 1998
8
A deletion in the bovine myostatin gene causes the double-muscled phenotype in cattle. 57
9288100 1997
9
Regulation of skeletal muscle mass in mice by a new TGF-beta superfamily member. 57
9139826 1997
10
The mh gene causing double-muscling in cattle maps to bovine Chromosome 2. 57
8597635 1995
11
Pulmonary artery smooth muscle hypertrophy: roles of glycogen synthase kinase-3beta and p70 ribosomal S6 kinase. 53 62
20190034 2010
12
p70 Ribosomal S6 kinase is required for airway smooth muscle cell size enlargement but not increased contractile protein expression. 53 62
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
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
20187280 2010
15
Calmodulin kinase II is required for angiotensin II-mediated vascular smooth muscle hypertrophy. 53 62
20023119 2010
16
Exercise does not influence myostatin and follistatin messenger RNA expression in young women. 53 62
20124796 2010
17
Cycle training increased GLUT4 and activation of mammalian target of rapamycin in fast twitch muscle fibers. 53 62
20010125 2010
18
Involvement of PI3K/Akt/TOR pathway in stretch-induced hypertrophy of myotubes. 53 62
19768770 2010
19
Exercise and the growth hormone-insulin-like growth factor axis. 53 62
20010129 2010
20
Effects of high-intensity resistance training in patients with rheumatoid arthritis: a randomized controlled trial. 53 62
19950325 2009
21
Ca2+/calmodulin-dependent transcriptional pathways: potential mediators of skeletal muscle growth and development. 53 62
19725819 2009
22
Inducible activation of Akt increases skeletal muscle mass and force without satellite cell activation. 53 62
19661286 2009
23
Extraocular muscle hypertrophy in myotonia congenita: Mutation identified in the SCN4A gene (V445M). 53 62
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
19432591 2009
25
Muscle hypertrophy driven by myostatin blockade does not require stem/precursor-cell activity. 53 62
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
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
18841527 2009
28
Regulation of mTOR signaling in skeletal muscle hypertrophy. 53 62
19147966 2008
29
Gene doping: the hype and the reality. 53 62
18500383 2008
30
Growth factors, muscle function and doping. 53 62
18353722 2008
31
Inhibition of glycogen synthase kinase-3beta is sufficient for airway smooth muscle hypertrophy. 53 62
18252708 2008
32
PGF2alpha-associated vascular smooth muscle hypertrophy is ROS dependent and involves the activation of mTOR, p70S6k, and PTEN. 53 62
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
17940216 2007
34
The influence of eccentric exercise on mRNA expression of skeletal muscle regulators. 53 62
17661068 2007
35
Cluster analysis tests the importance of myogenic gene expression during myofiber hypertrophy in humans. 53 62
17395765 2007
36
Extracellular signal-regulated kinase pathway is differentially involved in beta-agonist-induced hypertrophy in slow and fast muscles. 53 62
17151143 2007
37
IL-13 mediates the recruitment of reserve cells for fusion during IGF-1-induced hypertrophy of human myotubes. 53 62
17264150 2007
38
Skeletal muscle IL-4, IL-4Ralpha, IL-13 and IL-13Ralpha1 expression and response to strength training. 53 62
18198661 2007
39
mTOR pathway as a target in tissue hypertrophy. 53 62
16968213 2007
40
The ABCs of IGF-I isoforms: impact on muscle hypertrophy and implications for repair. 53 62
17213901 2006
41
Skeletal muscle stem cells: a symposium. 53 62
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
16423499 2006
43
Akt signalling through GSK-3beta, mTOR and Foxo1 is involved in human skeletal muscle hypertrophy and atrophy. 53 62
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
16904923 2006
45
Transforming growth factor-beta induces airway smooth muscle hypertrophy. 53 62
16239645 2006
46
Prevention and treatment of cancer cachexia: new insights into an old problem. 53 62
16314085 2006
47
Molecular mechanisms involving IGF-1 and myostatin to induce muscle hypertrophy as a therapeutic strategy for Duchenne muscular dystrophy. 53 62
16629058 2005
48
mTOR function in skeletal muscle hypertrophy: increased ribosomal RNA via cell cycle regulators. 53 62
16079186 2005
49
Myostatin: a modulator of skeletal-muscle stem cells. 53 62
16246158 2005
50
Muscle regeneration through myostatin inhibition. 53 62
16224249 2005

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

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 46)
# Super pathways Score Top Affiliating Genes
1 13.65 CAMK2G HDAC4 IGF1 LEP MAPK1 MEF2A
2
Show member pathways
13.42 SRF RPS6KB1 PPP3CA MTOR MAPK1 IGF1
3
Show member pathways
12.99 RPS6KB1 PPP3CA MTOR MEF2A MAPK1 IGF1
4 12.77 IGF1 MAPK1 MEF2A MTOR SRF
5
Show member pathways
12.68 CAMK2G HDAC4 MAPK1 MEF2A PPP3CA
6
Show member pathways
12.6 CAMK2G IGF1 MAPK1 MEF2A MTOR PPP3CA
7
Show member pathways
12.56 RPS6KB1 PPP3CA MYOD1 MTOR MEF2A MAPK1
8
Show member pathways
12.46 SRF RPS6KB1 MTOR MAPK1
9
Show member pathways
12.4 RPS6KB1 MTOR MAPK1 IGF1
10
Show member pathways
12.16 RPS6KB1 MTOR MAPK1 IGF1
11
Show member pathways
12.12 RPS6KB1 PPP3CA MTOR MAPK1 CAMK2G
12
Show member pathways
12.1 RPS6KB1 MTOR MAPK1 CAMK2G
13
Show member pathways
12.07 RPS6KB1 PPP3CA MAPK1 IGF1
14
Show member pathways
12.02 RPS6KB1 MTOR MAPK1 IGF1
15 11.93 PPP3CA MAPK1 LEP
16 11.92 SRF MEF2A MAPK1
17
Show member pathways
11.89 RPS6KB1 PPP3CA MTOR MAPK1
18 11.88 MTOR MAPK1 IGF1
19
Show member pathways
11.88 RPS6KB1 MTOR MAPK1 LEP HDAC4
20
Show member pathways
11.86 RPS6KB1 MTOR MAPK1 CAMK2G
21
Show member pathways
11.85 SRF MEF2A MAPK1
22 11.82 MYOD1 LEP IGF1
23 11.75 RPS6KB1 MTOR MAPK1
24 11.73 MTOR LEP IGF1
25 11.72 PPP3CA MAPK1 CAMK2G
26
Show member pathways
11.72 SRF MYOD1 MEF2A
27 11.72 MAPK1 MTOR MYOD1 RPS6KB1
28 11.68 PPP3CA MAPK1 CAMK2G
29 11.64 PPP3CA MTOR MAPK1
30
Show member pathways
11.6 PPP3CA MTOR MEF2A MAPK1 IGF1 HDAC4
31
Show member pathways
11.57 RPS6KB1 MTOR MAPK1
32 11.55 PPP3CA MAPK1 CAMK2G
33 11.54 RPS6KB1 MTOR MAPK1
34 11.46 MAPK1 MEF2A RPS6KB1
35 11.42 PPP3CA MEF2A CAMK2G
36 11.3 RPS6KB1 MTOR MAPK1
37 11.23 SRF MYOD1 MEF2A
38 11.12 MTOR MAPK1 HDAC4
39
Show member pathways
10.93 RPS6KB1 MTOR
40 10.92 MAPK1 CAMK2G
41 10.92 MTOR MAPK1
42 10.85 MTOR RPS6KB1
43 10.7 SRF MEF2A
44 10.66 SRF IGF1 HDAC4
45 10.59 MTOR IGF1
46 10.58 RPS6KB1 MTOR MSTN IGF1 FBXO32

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

Sources for Muscle Hypertrophy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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