MCID: MSC003
MIFTS: 52

Muscular Atrophy

Categories: Bone diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Muscular Atrophy

MalaCards integrated aliases for Muscular Atrophy:

Name: Muscular Atrophy 12 43 15 71
Muscle Wasting 12 15
Skeletal Muscle Atrophy 71
Wasting - Muscle 12
Amyotrophia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:767
MeSH 43 D009133
NCIt 49 C94834
SNOMED-CT 67 88092000
UMLS 71 C0026846 C0541794

Summaries for Muscular Atrophy

MalaCards based summary : Muscular Atrophy, also known as muscle wasting, is related to spinal muscular atrophy, type ii and spinal muscular atrophy, distal, autosomal recessive, 1, and has symptoms including muscle weakness, myokymia and muscular fasciculation. An important gene associated with Muscular Atrophy is ATP2B3 (ATPase Plasma Membrane Ca2+ Transporting 3). The drugs Pioglitazone and Clobetasol have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and kidney, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Muscular Atrophy

Diseases in the Muscular Atrophy family:

Progressive Muscular Atrophy

Diseases related to Muscular Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 830)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, type ii 35.3 SMN2 SMN1 NAIP
2 spinal muscular atrophy, distal, autosomal recessive, 1 35.3 SMN2 SMN1 IGHMBP2
3 spinal muscular atrophy, type iv 35.2 VAPB SMN2 SMN1 NAIP ASAH1
4 spinal muscular atrophy, type iii 35.1 SMN2 SMN1 SERF1A NAIP IGHMBP2
5 progressive muscular atrophy 35.0 VAPB TRPV4 SMN2 SMN1
6 spinal muscular atrophy, distal, autosomal recessive, 2 35.0 TRPV4 GARS1 BICD2
7 proximal spinal muscular atrophy 34.9 SMN2 SMN1 NAIP BICD2
8 spinal muscular atrophy with lower extremity predominance 34.9 DYNC1H1 BICD2
9 spinal muscular atrophy, type i 34.9 ZPR1 VRK1 SMN2 SMN1 SERF1A NAIP
10 survival motor neuron spinal muscular atrophy 34.6 ZPR1 VRK1 SMN2 SMN1 SERF1A NAIP
11 spinal muscular atrophy 34.1 ZPR1 VRK1 VAPB UBA1 TRPV4 TRIP4
12 autosomal dominant distal hereditary motor neuronopathy 33.9 TRPV4 IGHMBP2 BICD2
13 charcot-marie-tooth hereditary neuropathy 33.7 TRPV4 IGHMBP2 GARS1
14 motor neuron disease 33.4 VAPB SMN2 SMN1 PLEKHG5 NAIP GARS1
15 distal hereditary motor neuropathies 33.1 TRPV4 IGHMBP2 GARS1
16 spinal disease 33.0 SMN2 SMN1 NAIP
17 neuromuscular disease 32.9 TRPV4 SMN2 SMN1 NAIP IGHMBP2 GARS1
18 charcot-marie-tooth disease 32.7 VAPB TRPV4 SMN2 SMN1 PLEKHG5 IGHMBP2
19 motor peripheral neuropathy 32.5 TRPV4 IGHMBP2 GARS1 DYNC1H1 DNAJB2 BICD2
20 amyotrophic lateral sclerosis 1 32.4 VAPB SMN2 SMN1 NAIP IGHMBP2 DYNC1H1
21 neuropathy 31.7 TRPV4 IGHMBP2 GARS1 DYNC1H1
22 tooth disease 31.6 TRPV4 PLEKHG5 IGHMBP2 GARS1 DYNC1H1
23 congenital contractures 31.3 VRK1 UBA1 TRIP4
24 anterior horn cell disease 31.2 VRK1 UBA1 SMN2 SMN1 IGHMBP2
25 peripheral nervous system disease 31.2 TRPV4 SMN2 SMN1 GARS1
26 axonal neuropathy 31.2 VRK1 TRPV4 GARS1
27 genetic motor neuron disease 30.9 PLEKHG5 GARS1 DYNC1H1
28 muscular disease 30.7 SMN2 SMN1 NAIP IGHMBP2 GARS1 BICD2
29 hereditary motor and sensory neuropathy, type iic 30.3 TRPV4 GARS1
30 spinal and bulbar muscular atrophy, x-linked 1 13.0
31 spinal muscular atrophy, x-linked 2 12.9
32 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 12.9
33 spinal muscular atrophy, late-onset, finkel type 12.8
34 spinal muscular atrophy, distal, x-linked 3 12.8
35 scapuloperoneal spinal muscular atrophy 12.8
36 spinal muscular atrophy with progressive myoclonic epilepsy 12.8
37 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant 12.8
38 spinal muscular atrophy, distal, autosomal recessive, 3 12.7
39 spinal muscular atrophy, distal, autosomal recessive, 4 12.7
40 spinal muscular atrophy with congenital bone fractures 1 12.7
41 spinal muscular atrophy, jokela type 12.7
42 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant 12.6
43 spinal muscular atrophy with congenital bone fractures 2 12.6
44 spinal muscular atrophy, distal, autosomal recessive, 5 12.6
45 autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 12.6
46 neuronopathy, distal hereditary motor, type va 12.5
47 pelvic muscle wasting 12.5
48 autosomal dominant childhood-onset proximal spinal muscular atrophy 12.5
49 neuronopathy, distal hereditary motor, type viii 12.5
50 autosomal dominant adult-onset proximal spinal muscular atrophy 12.4

Graphical network of the top 20 diseases related to Muscular Atrophy:



Diseases related to Muscular Atrophy

Symptoms & Phenotypes for Muscular Atrophy

UMLS symptoms related to Muscular Atrophy:


muscle weakness, myokymia, muscular fasciculation, muscle cramp, spasm, neuromuscular manifestations

GenomeRNAi Phenotypes related to Muscular Atrophy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.1 VRK1
2 Decreased viability GR00221-A-2 10.1 VRK1
3 Decreased viability GR00221-A-4 10.1 VRK1
4 Decreased viability GR00240-S-1 10.1 ASAH1 SMN2
5 Decreased viability GR00301-A 10.1 VRK1
6 Decreased viability GR00381-A-1 10.1 ASAH1 UBA1
7 Decreased viability GR00402-S-2 10.1 AR ASAH1 ATP2B3 ATP7A BICD2 DNAJB2
8 no effect GR00402-S-1 9.62 AR ASAH1 ATP2B3 ATP7A BICD2 DNAJB2

MGI Mouse Phenotypes related to Muscular Atrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.28 AR ATP7A DYNC1H1 GARS1 IGHMBP2 PLEKHG5

Drugs & Therapeutics for Muscular Atrophy

Drugs for Muscular Atrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 298)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
2
Clobetasol Approved, Experimental, Investigational Phase 4 25122-46-7, 25122-41-2 32798 5311051
3
Fosinopril Approved Phase 4 98048-97-6 55891
4
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
5
Acetaminophen Approved Phase 4 103-90-2 1983
6
Sodium citrate Approved, Investigational Phase 4 68-04-2
7
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
8
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
9
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
10 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
11
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
12
Glutamic acid Approved, Nutraceutical Phase 4 56-86-0 33032
13
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
14
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
15 Neurotransmitter Agents Phase 4
16 Anticonvulsants Phase 4
17 Antihypertensive Agents Phase 4
18 Angiotensin-Converting Enzyme Inhibitors Phase 4
19 Excitatory Amino Acid Antagonists Phase 4
20 Excitatory Amino Acids Phase 4
21 Excitatory Amino Acid Agonists Phase 4
22 Antipyretics Phase 4
23 Analgesics, Non-Narcotic Phase 4
24 Hormone Antagonists Phase 4
25 Hormones Phase 4
26 glucocorticoids Phase 4
27 Protective Agents Phase 4
28 Antineoplastic Agents, Hormonal Phase 4
29 Anti-Inflammatory Agents Phase 4
30 Neuroprotective Agents Phase 4
31 Citrate Phase 4
32 Vasodilator Agents Phase 4
33 Phosphodiesterase 5 Inhibitors Phase 4
34 Sildenafil Citrate Phase 4 171599-83-0
35 Phosphodiesterase Inhibitors Phase 4
36 Gastrointestinal Agents Phase 4
37 Autonomic Agents Phase 4
38 Methylprednisolone Acetate Phase 4
39 Antiemetics Phase 4
40
Serine Investigational, Nutraceutical Phase 4 56-45-1 5951
41
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
42
Ketoprofen Approved, Vet_approved Phase 3 22071-15-4 3825
43
Hydroxyurea Approved Phase 2, Phase 3 127-07-1 3657
44
Methylcobalamin Approved, Investigational Phase 2, Phase 3 13422-55-4
45
Hydroxocobalamin Approved Phase 2, Phase 3 13422-51-0 11953898 15589840
46
Miglustat Approved Phase 3 72599-27-0 51634
47
Goserelin Approved Phase 3 65807-02-5, 1233494-97-7 47725 5311128
48
Methyltestosterone Approved Phase 2, Phase 3 58-18-4 6010
49
Testosterone Approved, Experimental, Investigational Phase 2, Phase 3 58-22-0, 481-30-1 6013 10204
50
Testosterone undecanoate Approved, Investigational Phase 2, Phase 3 5949-44-0

Interventional clinical trials:

(show top 50) (show all 558)
# Name Status NCT ID Phase Drugs
1 Mechanisms of Low Protein Diet Supplemented With α-ketoacids on Autophagy and Improving Muscle Wasting in Chronic Kidney Disease: the Role of Autophagy in Muscle Wasting Unknown status NCT02568020 Phase 4 keto-amino acids
2 Effects of Pioglitazone on Body Composition,Insulin Sensitivity and Protein Metabolism in ESRD Non Diabetic Individuals Unknown status NCT01253928 Phase 4 Pioglitazone
3 Evaluation of Fluid Retention Due to Superpotent Topical Corticosteroid in Patients With Bullous Pemphigoid Unknown status NCT02360202 Phase 4 Clobetasol Propionate cream treatment
4 Effect of Goserelin (Zoladex®) in Spinal and Bulbar Muscular Atrophy in Thai Patients Completed NCT00851461 Phase 4 Goserelin
5 Physiologic Effects of PRMS & Testosterone in the Debilitated Elderly Completed NCT00018356 Phase 4 testosterone
6 Electromagnetic Interference by Transcutaneous Neuromuscular Electrical Stimulation in Patients With Optimizer(R) - a Pilot Safety Study Completed NCT02692690 Phase 4
7 ACE-inhibition and Mechanisms of Skeletal Muscle Weakness in Chronic Obstructive Pulmonary Disease Completed NCT01014338 Phase 4 Fosinopril
8 Study of The Effects of Testosterone on Muscle Function, Physical Performance, Body Composition and Quality of Life in Frail Elderly Men Completed NCT00190060 Phase 4 Transdermal testosterone gel (Testogel 1% );Matched transdermal placebo gel
9 Early Goal-Directed Nutrition in ICU Patients - EAT-ICU Trial Completed NCT01372176 Phase 4
10 Effect of the Proteins of the Diet in Patients With Cirrhosis and a Prior Episode of Hepatic Encephalopathy. A Randomized Study Completed NCT00955500 Phase 4
11 Developing New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission Completed NCT01018056 Phase 4 D-serine;Riluzole;Placebo
12 Pharmacokinetics and Safety of Treatment With Paracetamol in Children and Adults With Spinal Muscular Atrophy and Cerebral Palsy Recruiting NCT03648658 Phase 4 Paracetamol 120Mg/5mL Oral Suspension
13 A Long-term Follow-up Study of Patients in the Clinical Trials for Spinal Muscular Atrophy Receiving AVXS-101 Recruiting NCT04042025 Phase 4
14 RolE of AST120 in sarCOpenia preVEntion in pRe-dialYsis Chronic Kidney Disease Patients (RECOVERY): Prospective Open-label Randomized Controlled Multicenter Study Recruiting NCT03788252 Phase 4 Renamezin
15 A Comparative Study of Strategies for Management of Duchenne Myopathy in Assiut University Children Hospital Not yet recruiting NCT03633565 Phase 4 Sildenafil (Phosphodiesterase inhibitors);Prednisolone (Steroids)
16 Strategies to Reduce Organic Muscle Atrophy in the Intensive Care Unit (STROMA-ICU) Unknown status NCT02773771 Phase 2, Phase 3
17 Clinical Multicenter, Phase III, Randomized, Double-blind Study to Evaluate the Efficacy and Safety of Ibuprofen 50mg/g Gel in the Treatment of Patients With Muscle Pain, Joint, or Pain Caused by Sprains, Contusions, Tendinitis, or Myofascial Compared to Profenid ® 25mg/g. Gel Unknown status NCT01373697 Phase 3 Ibuprofen;Profenid
18 Effect of High Dose Vitamin D3 Supplementation on Skeletal Muscle Mass and Body Compositions in Critically Ill Patients With Vitamin D Deficiency Unknown status NCT02594579 Phase 3 Vitamin D3;Placebo
19 Randomized Placebo Controlled Trial of Valproate and Levocarnitine in Children With Spinal Muscular Atrophy Aged 2-15 Years Unknown status NCT01671384 Phase 3 Valproate, Levocarnitine;Placebo
20 The Effects of Acute Testosterone Administration in Men on Muscle Mass, Strength, and Physical Function Following ACL Reconstructive Surgery Unknown status NCT01595581 Phase 3 Testosterone;Saline
21 Effects of Short-chain Fatty Acids, Here Sodium Propionate, a Metabolism Product of the Human Gut-microbiome, on Inflammatory and Metabolic Parameters in Patients on Maintenance Hemodialysis - a Pilot Study Unknown status NCT02976688 Phase 2, Phase 3
22 Phase III, Randomized, Double-Blind, Placebo-Controlled Study of the Effect of GTx-024 on Muscle Wasting in Patients With Non-Small Cell Lung Cancer on First Line Platinum Plus a Non-Taxane Chemotherapy Completed NCT01355497 Phase 3 GTx-024;placebo
23 Phase III, Randomized, Double-Blind, Placebo Controlled Study of the Effect of GTx-024 on Muscle Wasting in Patients With Non-Small Cell Lung Cancer on First Line Platinum Plus a Taxane Chemotherapy Completed NCT01355484 Phase 3 GTx-024;placebo
24 A Phase 3, Randomized, Double-blind, Sham-Procedure Controlled Study to Assess the Clinical Efficacy and Safety of ISIS 396443 Administered Intrathecally in Patients With Later-onset Spinal Muscular Atrophy Completed NCT02292537 Phase 3 Nusinersen
25 Phase 3, Open-Label, Single-Arm, Single-Dose Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 With One or Two SMN2 Copies Delivering AVXS-101 by Intravenous Infusion Completed NCT03306277 Phase 3
26 Columbia SMA Project: 4-AP as a Potential SMA Therapeutic Agent and Biological Mechanisms of Action Completed NCT01645787 Phase 2, Phase 3 4-aminopyridine;Placebo
27 A Long-Term Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00445172 Phase 2, Phase 3 E0302 (mecobalamin)
28 A Randomized, Double-Blind, Placebo-Controlled Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3 Hydroxyurea
29 A Phase II/III Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00444613 Phase 2, Phase 3 E0302 (mecobalamin);E0302 (mecobalamin);Placebo
30 Metabolism and Oxygen Consumption During Functional Electrical Stimulation Cycling in COPD Completed NCT02594722 Phase 3
31 Multicentric, Randomized, Double-blind Study Versus Placebo, With Two Parallel Groups Treated to Evaluate the Efficacy and the Tolerance of Riluzole in Children and Young Adults (6 to 20 Years of Age) With SMA. (Type II and Type III) Completed NCT00774423 Phase 2, Phase 3 Riluzole
32 A Randomized, Double-blind, Placebo-controlled, Multicenter, Parallel Group, Dose-finding, Pivotal, Phase 2b/3 Study to Evaluate the Efficacy, Safety, and Tolerability of Intravenous BYM338 at 52 Weeks on Physical Function, Muscle Strength, and Mobility and Additional Long Term Safety up to 2 Years in Patients With Sporadic Inclusion Body Myositis Completed NCT01925209 Phase 2, Phase 3 BYM338/bimagrumab;Placebo
33 Effects of Growth Hormone on Corticoid Myopathy in Children With Chronic Disease: Effects on Muscle Mass and Strength Completed NCT00813189 Phase 3
34 The Augmented Versus Routine Approach to Giving Energy Trial: A Randomised Controlled Trial Completed NCT02306746 Phase 3
35 Extension of the CBYM338B2203 Phase IIb/III Study to Evaluate the Long-term Efficacy, Safety and Tolerability of Intravenous BYM338 in Patients With Sporadic Inclusion Body Myositis Completed NCT02573467 Phase 3 Bimagrumab;Placebo
36 Phase 3, Open-Label, Single-Arm, Single-Dose Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 With One or Two SMN2 Copies Delivering AVXS-101 by Intravenous Infusion Recruiting NCT03837184 Phase 3
37 Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases Recruiting NCT03822013 Phase 3 Miglustat
38 A Two Part Seamless, Open-label, Multicenter Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7034067 in Infants With Type 1 Spinal Muscular Atrophy Active, not recruiting NCT02913482 Phase 2, Phase 3 Risdiplam
39 An Open-Label Extension Study for Patients With Spinal Muscular Atrophy Who Previously Participated in Investigational Studies of ISIS 396443 Active, not recruiting NCT02594124 Phase 3 nusinersen
40 A Two Part Seamless, Multi-Center Randomized, Placebo-Controlled, Double-Blind Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7034067 in Type 2 and 3 Spinal Muscular Atrophy Patients Active, not recruiting NCT02908685 Phase 2, Phase 3 Placebo;Risdiplam
41 The Regulation of Skeletal Muscle Protein Synthesis by Systemic Hormones and Its Influence on Ageing and Anabolic Resistance Active, not recruiting NCT03054168 Phase 3 Sustanon 250;Zoladex
42 A Global Study of a Single, One-Time Dose of AVXS-101 Delivered to Infants With Genetically Diagnosed and Pre-symptomatic Spinal Muscular Atrophy With Multiple Copies of SMN2 Active, not recruiting NCT03505099 Phase 3
43 European, Phase 3, Open-Label, Single-Arm, Single-Dose Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 With One or Two SMN2 Copies Delivering AVXS-101 by Intravenous Infusion Active, not recruiting NCT03461289 Phase 3
44 Growth Hormone Therapy for Muscle Regeneration in Severely Burned Patients Active, not recruiting NCT03038594 Phase 2, Phase 3 Somatropin;0.09% Saline Solution
45 Escalating Dose and Randomized, Controlled Study of Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy Not yet recruiting NCT04089566 Phase 2, Phase 3 Nusinersen
46 Cycled Testosterone Administration During Pulmonary Rehabilitation in Early Stage COPD Not yet recruiting NCT03674320 Phase 2, Phase 3 Testosterone Enanthate;Placebo
47 Efficacy of Coenzyme Q10 Supplementation on Multi-Organ Dysfunction in Severely Burned Patients Not yet recruiting NCT03968640 Phase 3
48 A Phase 3, Randomized, Double-Blind, Sham-Procedure Controlled Study to Assess the Clinical Efficacy and Safety of ISIS 396443 Administered Intrathecally in Patients With Infantile-onset Spinal Muscular Atrophy Terminated NCT02193074 Phase 3 nusinersen
49 Mechanisms of Improved Wound Healing and Protein Synthesis of Insulin and Metformin Terminated NCT01666665 Phase 2, Phase 3 Metformin;Sugar pill
50 Safety and Efficacy Study of Anti-cholinesterase Therapy on the Motor Functions in Patients With Spinal Muscular Atrophy Type 3. Unknown status NCT02227823 Phase 2 Pyridostigmine Bromide

Search NIH Clinical Center for Muscular Atrophy

Cochrane evidence based reviews: muscular atrophy

Genetic Tests for Muscular Atrophy

Anatomical Context for Muscular Atrophy

MalaCards organs/tissues related to Muscular Atrophy:

40
Skeletal Muscle, Heart, Kidney, Bone, Testes, Spinal Cord, Lung

Publications for Muscular Atrophy

Articles related to Muscular Atrophy:

(show top 50) (show all 12033)
# Title Authors PMID Year
1
MicroRNAs facilitate skeletal muscle maintenance and metabolic suppression in hibernating brown bears. 61
31643088 2020
2
Burn injury and restoration of muscle function. 61
31863962 2020
3
ACTIVE (Ability Captured Through Interactive Video Evaluation) workspace volume video game to quantify meaningful change in spinal muscular atrophy. 61
30963554 2020
4
Trajectory of change in the swallowing status in spinal muscular atrophy type I. 61
31945686 2020
5
Electroacupuncture alleviates cartilage degradation: Improvement in cartilage biomechanics via pain relief and potentiation of muscle function in a rabbit model of knee osteoarthritis. 61
31918209 2020
6
Metabolic aspects of muscle wasting during critical illness. 61
31904602 2020
7
Quorum sensing molecules as a novel microbial factor impacting muscle cells. 61
31870715 2020
8
Effect of l-carnitine supplementation on muscle cramps induced by stroke: A case report. 61
31864971 2020
9
False Negative Carrier Screening in Spinal Muscular Atrophy. 61
31858866 2020
10
Current and future treatments of spinal muscular atrophy. 61
31879942 2020
11
Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen. 61
31799720 2020
12
Nusinersen for older patients with spinal muscular atrophy: A real-world clinical setting experience. 61
31773738 2020
13
RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design. 61
32039859 2020
14
A Prospective, Crossover Survey Study of Child- and Proxy-Reported Quality of Life According to Spinal Muscular Atrophy Type and Medical Interventions. 61
32009500 2020
15
Renpenning syndrome in an Indian patient. 61
31840915 2020
16
Exercise as an anti-inflammatory therapy for cancer cachexia: a focus on interleukin-6 regulation. 61
31823669 2020
17
The redox balance: a target for interventions against muscle wasting in cancer cachexia? 61
32037856 2020
18
Association Between AND-ASPEN Malnutrition Criteria and Hospital Mortality in Critically Ill Trauma Patients: A Prospective Cohort Study. 61
32026492 2020
19
Myosteatosis to predict inferior perioperative outcome in patients undergoing orthotopic liver transplantation. 61
31448486 2020
20
Muscle-derived GDF15 drives diurnal anorexia and systemic metabolic remodeling during mitochondrial stress. 61
32026535 2020
21
Long-chain n-3 fatty acids as an essential link between musculoskeletal and cardio-metabolic health in older adults. 61
31282319 2020
22
Validation by CT scan of quadriceps muscle thickness measurement by ultrasound in acute kidney injury. 61
31729699 2020
23
l-Citrulline supplementation improves glucose and exercise tolerance in obese male mice. 61
31802553 2020
24
Expanding therapeutic opportunities for neurodegenerative diseases: A perspective on the important role of phenotypic screening. 61
31889605 2020
25
Gene therapy for neurological disorders: challenges and recent advancements. 61
31195838 2020
26
On-chip 3D neuromuscular model for drug screening and precision medicine in neuromuscular disease. 61
31932771 2020
27
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy. 61
31794073 2020
28
Long-Term Mechanical Insufflation-Exsufflation Cough Assistance in Neuromuscular Disease: Patterns of Use and Lessons for Application. 61
31690614 2020
29
Pathogenesis of SCA3 and implications for other polyglutamine diseases. 61
31669734 2020
30
Impact of scoliosis surgery on pulmonary function in patients with muscular dystrophies and spinal muscular atrophy. 61
32012473 2020
31
An Assessment of the Knowledge, Attitudes, and Practices of Patients and Families with Diagnoses of Hereditary Neuromuscular Disorders. 61
32018248 2020
32
Chemical Proteomics and Phenotypic Profiling Identifies the Aryl Hydrocarbon Receptor as a Molecular Target of the Utrophin Modulator Ezutromid. 61
31755636 2020
33
AAV-Mediated Gene Transfer Restores a Normal Muscle Transcriptome in a Canine Model of X-Linked Myotubular Myopathy. 61
31784415 2020
34
Evaluation of body composition as a potential biomarker in spinal muscular atrophy. 61
32012296 2020
35
New treatments in spinal muscular atrophy: an overview of currently available data. 61
31973611 2020
36
Muscle-specific SMN reduction reveals motor neuron-independent disease in spinal muscular atrophy models. 61
32039917 2020
37
Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy. 61
32031328 2020
38
[Genetic analysis of 90 families affected with spinal muscular atrophy]. 61
32034734 2020
39
Analysis of spinal muscular atrophy-like patients by targeted resequencing. 61
31734026 2020
40
Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen. 61
32035635 2020
41
Nusinersen treatment and cerebrospinal fluid neurofilaments: An explorative study on Spinal Muscular Atrophy type 3 patients. 61
32032473 2020
42
Outcome measures in a cohort of ambulatory adults with spinal muscular atrophy. 61
31725909 2020
43
Abnormal coagulation parameters are a common non-neuromuscular feature in patients with spinal muscular atrophy. 61
31515301 2020
44
Intrathecal nusinersen administration in adult spinal muscular atrophy patients with complex spinal anatomy. 61
32010224 2020
45
The value of preoperative labs in identifying "at-risk" patients for developing surgical site infections after pediatric neuromuscular spine deformity surgery. 61
31925757 2020
46
Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA Patients. 61
31991852 2020
47
Multimodal anesthesia management of a morbidly obese spinal muscular atrophy patient with obstructive sleep apnea. 61
31515939 2020
48
Advances in Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care. 61
31707373 2020
49
A tissue-specific screen of ceramide expression in aged mice identifies ceramide synthase-1 and ceramide synthase-5 as potential regulators of fiber size and strength in skeletal muscle. 61
31692231 2020
50
Sarcopenia and Heart Failure. 61
31947528 2020

Variations for Muscular Atrophy

ClinVar genetic disease variations for Muscular Atrophy:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP2B3 NM_001001344.2(ATP2B3):c.3594G>T (p.Lys1198Asn)SNV Pathogenic 242886 rs782596945 X:152845687-152845687 X:153580229-153580229
2 BICD2 NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del)deletion Likely pathogenic 422408 rs1064795760 9:95481289-95481291 9:92719007-92719009
3 TLL2 NM_012465.4(TLL2):c.112G>C (p.Glu38Gln)SNV Uncertain significance 633779 10:98273331-98273331 10:96513574-96513574
4 TLL2 NM_012465.4(TLL2):c.1609C>T (p.His537Tyr)SNV Uncertain significance 633780 10:98155061-98155061 10:96395304-96395304
5 COL6A3 NM_004369.3(COL6A3):c.8359G>A (p.Ala2787Thr)SNV Uncertain significance 288385 rs763395740 2:238249200-238249200 2:237340557-237340557

Expression for Muscular Atrophy

Search GEO for disease gene expression data for Muscular Atrophy.

Pathways for Muscular Atrophy

GO Terms for Muscular Atrophy

Cellular components related to Muscular Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.22 VRK1 UBA1 TRIP4 SMN2 SMN1 SERF1A
2 cell projection GO:0042995 9.8 ZPR1 TRPV4 SMN2 SMN1 PLEKHG5 IGHMBP2
3 axon GO:0030424 9.72 ZPR1 SMN2 SMN1 IGHMBP2 GARS1
4 growth cone GO:0030426 9.65 ZPR1 TRPV4 IGHMBP2
5 cytoplasm GO:0005737 9.55 ZPR1 VRK1 VAPB UBA1 TRIP4 SMN2
6 Cajal body GO:0015030 9.54 ZPR1 SMN2 SMN1
7 SMN-Sm protein complex GO:0034719 9.46 SMN2 SMN1
8 perikaryon GO:0043204 9.46 ZPR1 SMN2 SMN1 ATP7A
9 SMN complex GO:0032797 9.43 SMN2 SMN1
10 Gemini of coiled bodies GO:0097504 9.13 ZPR1 SMN2 SMN1

Biological processes related to Muscular Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 spliceosomal complex assembly GO:0000245 9.26 SMN2 SMN1
2 import into nucleus GO:0051170 9.16 SMN2 SMN1
3 cellular calcium ion homeostasis GO:0006874 9.13 VAPB TRPV4 ATP2B3
4 DNA-templated transcription, termination GO:0006353 8.62 SMN2 SMN1

Molecular functions related to Muscular Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.91 ZPR1 VRK1 VAPB UBA1 TRPV4 TRIP4
2 ATP binding GO:0005524 9.28 VRK1 UBA1 TRPV4 NAIP IGHMBP2 GARS1

Sources for Muscular Atrophy

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