MCID: MSC003
MIFTS: 55

Muscular Atrophy

Categories: Bone diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Muscular Atrophy

MalaCards integrated aliases for Muscular Atrophy:

Name: Muscular Atrophy 11 28 5 43 14 71
Muscle Wasting 11 14
Skeletal Muscle Atrophy 71
Wasting - Muscle 11
Amyotrophia 11

Classifications:



External Ids:

Disease Ontology 11 DOID:767
MeSH 43 D009133
NCIt 49 C94834
SNOMED-CT 68 267693003
UMLS 71 C0026846 C0541794

Summaries for Muscular Atrophy

MalaCards based summary: Muscular Atrophy, also known as muscle wasting, is related to spinal and bulbar muscular atrophy, x-linked 1 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 DMD (Dystrophin), and among its related pathways/superpathways is SARS-CoV-2 modulates host translation machinery. The drugs Acetaminophen and Goserelin have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, spinal cord and bone marrow, and related phenotypes are homeostasis/metabolism and nervous system

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 1069)
# Related Disease Score Top Affiliating Genes
1 spinal and bulbar muscular atrophy, x-linked 1 33.8 SMN2 SMN1 LOC109504725 AR
2 spinal muscular atrophy, distal, autosomal recessive, 1 33.8 SMN2 SMN1 IGHMBP2 GARS1
3 spinal muscular atrophy 33.8 ZPR1 TRIP4 SMN2 SMN1 SERF1A NAIP
4 spinal muscular atrophy, type ii 33.8 SMN2 SMN1 NAIP GTF2H2 BICD2
5 spinal muscular atrophy, x-linked 2 33.7 SMN2 SMN1 IGHMBP2
6 spinal muscular atrophy with progressive myoclonic epilepsy 33.6 SMN2 SMN1 ASAH1
7 spinal muscular atrophy, type iv 33.6 SMN2 SMN1 NAIP
8 neuronopathy, distal hereditary motor, type va 33.5 SMN2 SMN1 IGHMBP2 GARS1
9 spinal muscular atrophy with lower extremity predominant 33.5 IGHMBP2 GARS1 DYNC1H1 BICD2
10 scapuloperoneal spinal muscular atrophy 33.4 IGHMBP2 GARS1 DYNC1H1 BICD2
11 spinal muscular atrophy, type i 33.4 ZPR1 SMN2 SMN1 SERF1A NAIP IGHMBP2
12 spinal muscular atrophy, type iii 33.3 ZPR1 SMN2 SMN1 SERF1A NAIP IGHMBP2
13 progressive muscular atrophy 33.2 SMN2 SMN1
14 motor neuron disease 33.1 SMN2 SMN1 NAIP DYNC1H1 BICD2 ATP7A
15 autosomal dominant distal hereditary motor neuronopathy 33.0 IGHMBP2 GARS1 DYNC1H1 BICD2
16 charcot-marie-tooth hereditary neuropathy 33.0 IGHMBP2 GARS1
17 spinal muscular atrophy type 0 33.0 SMN2 SMN1
18 autosomal recessive distal hereditary motor neuronopathy 32.8 SMN2 SMN1 IGHMBP2 GARS1
19 childhood spinal muscular atrophy 32.8 ZPR1 SMN2 SMN1 SERF1A NAIP IGHMBP2
20 charcot-marie-tooth disease 32.7 SMN2 SMN1 IGHMBP2 GARS1 DYNC1H1 BICD2
21 neuronopathy, distal hereditary motor, type viib 32.6 DYNC1H1 BICD2
22 neuromuscular disease 32.6 SMN2 SMN1 NAIP IGHMBP2 GARS1 DYNC1H1
23 motor peripheral neuropathy 32.5 IGHMBP2 GARS1 DYNC1H1 BICD2
24 distal hereditary motor neuronopathy type 7 32.4 IGHMBP2 DYNC1H1 BICD2
25 spinal disease 32.3 SMN2 SMN1 NAIP AR
26 pontocerebellar hypoplasia 32.3 SMN2 SMN1 IGHMBP2 GARS1
27 neuronopathy, distal hereditary motor, type iib 32.1 IGHMBP2 GARS1
28 tooth disease 31.6 IGHMBP2 GARS1 DYNC1H1
29 charcot-marie-tooth disease, axonal, type 2e 31.5 SMN2 SMN1 IGHMBP2 GARS1 DYNC1H1 BICD2
30 anterior horn cell disease 31.3 SMN2 SMN1 IGHMBP2
31 hereditary spastic paraplegia 31.2 SMN2 SMN1 IGHMBP2 GARS1 DYNC1H1 BICD2
32 distal arthrogryposis 31.0 TRIP4 SMN2 SMN1 IGHMBP2 DYNC1H1 DMD
33 peripheral nervous system disease 31.0 SMN2 SMN1 IGHMBP2 GARS1 DYNC1H1 DMD
34 tay-sachs disease 30.9 SMN2 SMN1 ASAH1
35 myotonic dystrophy 1 30.9 SMN2 SMN1 DMD
36 charcot-marie-tooth disease, axonal, type 2d 30.8 IGHMBP2 GARS1
37 myopathy 30.3 SMN2 SMN1 SMCHD1 PYGM DYNC1H1 DMD
38 muscular disease 30.3 SMN2 SMN1 DMD
39 congenital myasthenic syndrome 29.5 SMN2 SMN1 PYGM IGHMBP2 GARS1 DMD
40 spinal muscular atrophy, distal, x-linked 3 11.7
41 spinal muscular atrophy, distal, autosomal recessive, 2 11.7
42 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 11.7
43 neuronopathy, distal hereditary motor, type viii 11.7
44 spinal muscular atrophy, distal, autosomal recessive, 3 11.7
45 spinal muscular atrophy, distal, autosomal recessive, 4 11.7
46 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant 11.6
47 primrose syndrome 11.6
48 spinal muscular atrophy, late-onset, finkel type 11.6
49 proximal spinal muscular atrophy 11.6
50 spinal muscular atrophy with congenital bone fractures 1 11.6

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

MGI Mouse Phenotypes related to Muscular Atrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.21 AR ASAH1 ATP7A DDX20 DMD DYNC1H1
2 nervous system MP:0003631 10.17 AR ASAH1 ATP7A BICD2 DMD DYNC1H1
3 muscle MP:0005369 10.1 AR ASAH1 ATP7A DMD DYNC1H1 GARS1
4 normal MP:0002873 10.06 AR ATP7A BICD2 DMD GARS1 NAIP
5 cellular MP:0005384 10 AR ASAH1 ATP7A BICD2 DMD IGHMBP2
6 behavior/neurological MP:0005386 9.93 AR ASAH1 ATP2B3 ATP7A BICD2 DMD
7 digestive/alimentary MP:0005381 9.87 AR ATP7A DMD GARS1 IGHMBP2 SMN1
8 skeleton MP:0005390 9.61 AR ASAH1 ATP7A BICD2 DMD GARS1
9 mortality/aging MP:0010768 9.5 AR ASAH1 ATP7A BICD2 DDX20 DMD

Drugs & Therapeutics for Muscular Atrophy

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

(show top 50) (show all 159)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetaminophen Approved Phase 4 103-90-2 1983
2
Goserelin Approved Phase 4 65807-02-5 5311128 47725
3
Carbamide peroxide Approved Phase 4 124-43-6
4
Risdiplam Approved, Investigational Phase 4 1825352-65-5 118513932
5 Analgesics, Non-Narcotic Phase 4
6 Antipyretics Phase 4
7 Androgens Phase 4
8
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
9
Ketoprofen Approved, Vet_approved Phase 3 22071-15-4 3825
10
Ibuprofen Approved Phase 3 15687-27-1 3672
11
Hydroxyurea Approved Phase 2, Phase 3 127-07-1 3657
12
Dalfampridine Approved Phase 2, Phase 3 504-24-5 1727
13
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
14
Testosterone Approved, Investigational Phase 2, Phase 3 58-22-0 5408 6013
15
Methyltestosterone Approved Phase 2, Phase 3 58-18-4 6010
16
Testosterone undecanoate Approved, Investigational Phase 2, Phase 3 5949-44-0 21873174 65157
17
Testosterone enanthate Approved Phase 2, Phase 3 315-37-7 9416
18
Lactitol Approved, Investigational Phase 3 585-86-4 157355
19
Cathine Approved, Experimental, Illicit, Vet_approved, Withdrawn Phase 3 14838-15-4, 492-39-7 131954576 4786 26934
20
Guaifenesin Approved, Investigational, Vet_approved Phase 3 93-14-1 3516
21 Antirheumatic Agents Phase 3
22 Cyclooxygenase Inhibitors Phase 3
23 Anti-Inflammatory Agents, Non-Steroidal Phase 3
24 Anti-Inflammatory Agents Phase 3
25 Antineoplastic Agents, Hormonal Phase 3
26 Hormone Antagonists Phase 3
27 Neurotransmitter Agents Phase 2, Phase 3
28 Anticonvulsants Phase 2, Phase 3
29 Potassium Channel Blockers Phase 2, Phase 3
30 Anabolic Agents Phase 3
31 Protective Agents Phase 2, Phase 3
32 Neuroprotective Agents Phase 2, Phase 3
33 Excitatory Amino Acid Antagonists Phase 2, Phase 3
34 Taxane Phase 3 108169
35 Testosterone 17 beta-cypionate Phase 2, Phase 3
36 Immunoglobulins, Intravenous Phase 3
37 Immunoglobulins Phase 3
38 Immunoglobulin G Phase 3
39 Antibodies, Monoclonal Phase 3
40 Antibodies Phase 3
41 Chlorpheniramine, phenylpropanolamine drug combination Phase 3
42
Levetiracetam Approved Phase 2 102767-28-2 441341 5284583
43
Dutasteride Approved, Investigational Phase 2 164656-23-9 6918296
44
Finasteride Approved Phase 2 98319-26-7 57363
45
Zoledronic acid Approved Phase 2 118072-93-8 68740
46
Amifampridine Approved, Investigational Phase 2 54-96-6 5918
47
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
48
Tesamorelin Approved, Investigational Phase 2 218949-48-5 16137828
49
Valine Approved, Nutraceutical Phase 2 72-18-4 1182 6287
50
D-Phenylalanine Approved, Experimental, Investigational, Nutraceutical Phase 2 63-91-2, 673-06-3 6140 71567

Interventional clinical trials:

(show top 50) (show all 413)
# Name Status NCT ID Phase Drugs
1 Pharmacokinetics and Safety of Treatment With Paracetamol in Children and Adults With Spinal Muscular Atrophy and Cerebral Palsy Unknown status NCT03648658 Phase 4 Paracetamol 120Mg/5mL Oral Suspension
2 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
3 Comparison of the Immunogenicity of Intramuscular Versus Subcutaneous Administration of Trivalent Inactivated Influenza Vaccine in Individuals With Neuromuscular Diseases Completed NCT01422200 Phase 4
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 Early Goal-Directed Nutrition in ICU Patients - EAT-ICU Trial Completed NCT01372176 Phase 4
7 A Phase 4 Study of Nusinersen (BIIB058) Among Patients With Spinal Muscular Atrophy Who Received Onasemnogene Abeparvovec Recruiting NCT04488133 Phase 4 Nusinersen
8 Long-Term Follow-Up Study of Patients With Spinal Muscular Atrophy Receiving Risdiplam Treatment Recruiting NCT05232929 Phase 4 Risdiplam
9 A Phase IV Open-label, Single-arm, Single-dose, Multicenter Study to Evaluate the saFEty, toLerability and effIcacy of Gene Replacement Therapy With Intravenous OAV101 (AVXS-101) in Pediatric Patients From Latin America and Canada With Spinal Muscular Atrophy (SMA) - OFELIA Active, not recruiting NCT05073133 Phase 4
10 Risdiplam Exchange in Patients With Spinal Muscular Atrophy (SMA) Previously and Exclusively Treated With Nusinersen Not yet recruiting NCT05522361 Phase 4 Risdiplam
11 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
12 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
13 The Regulation of Skeletal Muscle Protein Synthesis by Systemic Hormones and Its Influence on Ageing and Anabolic Resistance Unknown status NCT03054168 Phase 3 Sustanon 250;Zoladex
14 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
15 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
16 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 NCT03837184 Phase 3
17 A Randomized, Double-Blind, Placebo-Controlled Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3 Hydroxyurea
18 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
19 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 Completed NCT03505099 Phase 3
20 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 NCT03461289 Phase 3
21 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
22 The Effects of Acute Testosterone Administration in Men on Muscle Mass, Strength, and Physical Function Following ACL Reconstructive Surgery Completed NCT01595581 Phase 3 Testosterone;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 Non-Taxane Chemotherapy Completed NCT01355497 Phase 3 GTx-024;placebo
24 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
25 Phase 3, Double-Blind, Placebo-Controlled Trial to Evaluate the Efficacy and Safety of Apitegromab (SRK-015) in Patients With Later-Onset Spinal Muscular Atrophy Receiving Background Nusinersen or Risdiplam Therapy Recruiting NCT05156320 Phase 3 Apitegromab;Placebo
26 A Phase 3b Study to Evaluate Higher Dose Nusinersen (BIIB058) in Patients With Spinal Muscular Atrophy Previously Treated With Risdiplam Recruiting NCT05067790 Phase 3 Nusinersen
27 Escalating Dose and Randomized, Controlled Study of Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy Recruiting NCT04089566 Phase 2, Phase 3 Nusinersen
28 A Phase IIIb, Open-label, Single-arm, Single-dose, Multicenter Study to Evaluate the Safety, Tolerability and Efficacy of Gene Replacement Therapy With Intravenous OAV101 (AVXS-101) in Pediatric Patients With Spinal Muscular Atrophy (SMA) Recruiting NCT04851873 Phase 3
29 A Randomized, Double-Blind, Placebo-Controlled, Study to Evaluate the Efficacy and Safety of Taldefgrobep Alfa in Ambulatory and Non-Ambulatory Participants With Spinal Muscular Atrophy With Open-Label Extension Recruiting NCT05337553 Phase 3 tadefgrobep alfa;Placebo
30 A Two-Part, Seamless, Multi-Center, Randomized, Placebo-Controlled, Double-Blind Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7204239 in Combination With Risdiplam (RO7034067) in Ambulant Patients With Spinal Muscular Atrophy Recruiting NCT05115110 Phase 2, Phase 3 RO7204239;Placebo;Risdiplam
31 A Randomized, Sham-controlled, Double-blind Study to Evaluate the Efficacy and Safety of Intrathecal OAV101 in Type 2 Spinal Muscular Atrophy (SMA) Patients Who Are ≥ 2 to < 18 Years of Age, Treatment Naive, Sitting, and Never Ambulatory Recruiting NCT05089656 Phase 3
32 A Long-term Follow-up Study of Patients in the Clinical Trials for Spinal Muscular Atrophy Receiving AVXS-101 Active, not recruiting NCT04042025 Phase 3
33 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
34 A Two Part Seamless, Open-label, Multicenter Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of Risdiplam (RO7034067) in Infants With Type 1 Spinal Muscular Atrophy Active, not recruiting NCT02913482 Phase 2, Phase 3 Risdiplam
35 A Two Part Seamless, Multi-Center Randomized, Placebo-Controlled, Double-Blind Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of Risdiplam (RO7034067) in Type 2 and 3 Spinal Muscular Atrophy Patients Active, not recruiting NCT02908685 Phase 2, Phase 3 Placebo;Risdiplam
36 A Long-Term Extension Study of Nusinersen (BIIB058) Administered at Higher Doses in Participants With Spinal Muscular Atrophy Who Previously Participated in an Investigational Study With Nusinersen Enrolling by invitation NCT04729907 Phase 3 Nusinersen
37 Use of Testosterone to Prevent Post-Surgical Muscle Loss - Pilot Study Enrolling by invitation NCT04456530 Phase 2, Phase 3 Aveed 750 MG in 3 ML IM Injection
38 An Open-Label, Multicenter, Extension Trial to Evaluate the Long-Term Safety and Efficacy of Apitegromab in Patients With Type 2 and Type 3 Spinal Muscular Atrophy Who Completed Previous Investigational Trials of Apitegromab Not yet recruiting NCT05626855 Phase 3 Apitegromab
39 Long-term Follow-up of Patients With Spinal Muscular Atrophy Treated With OAV101 IT or OAV101 IV in Clinical Trials Not yet recruiting NCT05335876 Phase 3
40 Phase IIIb, Open-label, Single-arm, Multi-center Study to Evaluate the Safety, Tolerability and Efficacy of OAV101 Administered Intrathecally (1.2 x 10^14 Vector Genomes) to Participants 2 to 12 Years of Age With Spinal Muscular Atrophy (SMA) Who Have Discontinued Treatment With Nusinersen (Spinraza®) or Risdiplam (Evrysdi®) Not yet recruiting NCT05386680 Phase 3
41 Withdrawal of Tiratricol Treatment in Males With Monocarboxylate Transporter 8 Deficiency (MCT8 Deficiency): A Double-blind, Randomized, Placebo-controlled Study Not yet recruiting NCT05579327 Phase 3 Tiratricol;Placebo
42 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
43 Strategies to Reduce Organic Muscle Atrophy in the Intensive Care Unit (STROMA-ICU) Withdrawn NCT02773771 Phase 2, Phase 3
44 Autologous Purified Bone-Marrow-Derived Stem Cell Therapy for Motor Neuron Disease Unknown status NCT03067857 Phase 1, Phase 2
45 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
46 The Effectiveness of Allogeneic Adipose Derived Mesenchymal Stem Cells (ADMSCs) in the Phenotypic Changes of Werdnig Hoffman Patients Unknown status NCT02855112 Phase 1, Phase 2
47 Mechanistic Approach to Preventing Atrophy and Restoring Function in Older Adults Unknown status NCT02145949 Phase 2 Essential Amino Acids (EAA);Placebo (Alanine)
48 Phase II Study of Leuprolide and Testosterone for Men With Kennedy's Disease or Other Motor Neuron Disease Completed NCT00004771 Phase 2 leuprolide;testosterone
49 Phase II, Multicenter, Randomized, Adaptive, Double-blind, Placebo Controlled Study to Assess Safety and Efficacy of Olesoxime (TRO19622) in 3-25 Year Old Spinal Muscular Atrophy (SMA) Patients. Completed NCT01302600 Phase 2 Olesoxime;Placebo
50 Multicenter, Open-Label, Single-Arm Study to Evaluate Long-Term Safety, Tolerability, and Effectiveness of 10 mg/kg BID Olesoxime in Patients With Spinal Muscular Atrophy Completed NCT02628743 Phase 2 Olesoxime

Search NIH Clinical Center for Muscular Atrophy

Cochrane evidence based reviews: muscular atrophy

Genetic Tests for Muscular Atrophy

Genetic tests related to Muscular Atrophy:

# Genetic test Affiliating Genes
1 Muscular Atrophy 28

Anatomical Context for Muscular Atrophy

Organs/tissues related to Muscular Atrophy:

MalaCards : Skeletal Muscle, Spinal Cord, Bone Marrow, Heart, Kidney, Bone, Lung

Publications for Muscular Atrophy

Articles related to Muscular Atrophy:

(show top 50) (show all 14849)
# Title Authors PMID Year
1
Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay. 5
17994553 2008
2
Novel mutation in the PYGM gene resulting in McArdle disease. 5
17172620 2006
3
Promising application of a new ulnar nerve compound muscle action potential measurement montage in amyotrophic lateral sclerosis: a prospective cross-sectional study. 62
36204862 2023
4
ALS Regional Variants (Brachial Amyotrophic Diplegia and Amyotrophic Leg Diplegia): Still A Diagnostic Challenge in Neurology. 62
36474455 2023
5
SMA-linked SMN mutants prevent phase separation properties and SMN interactions with FMRP family members. 62
36375840 2023
6
Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report. 62
35776137 2023
7
Interleukin-11 (IL11) inhibits myogenic differentiation of C2C12 cells through activation of extracellular signal-regulated kinase (ERK). 62
36328118 2023
8
Exon-Skipping for a Pathogenic COL6A1 Variant in Ullrich Congenital Muscular Dystrophy. 62
36401040 2023
9
Identifying FDA-Approved Drugs that Upregulate Utrophin A as a Therapeutic Strategy for Duchenne Muscular Dystrophy. 62
36401046 2023
10
Molecular and Biochemical Assessment of Gene Therapy in the Canine Model of Duchenne Muscular Dystrophy. 62
36401035 2023
11
Histological Assessment of Gene Therapy in the Canine DMD Model. 62
36401036 2023
12
Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening. 62
35673937 2023
13
The cost-effectiveness of newborn screening for spinal muscular atrophy. 62
35698880 2023
14
New results for risdiplam in spinal muscular atrophy. 62
36244363 2022
15
Respiratory muscle fatigability in patients with spinal muscular atrophy. 62
36039838 2022
16
A severely affected adult type 2 spinal muscular atrophy patient treated with risdiplam. 62
36472753 2022
17
Cerebrospinal fluid characteristics of patients treated with intrathecal nusinersen for spinal muscular atrophy. 62
36214191 2022
18
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial. 62
36244364 2022
19
A pediatric quantitative systems pharmacology model of neurofilament trafficking in spinal muscular atrophy treated with the antisense oligonucleotide nusinersen. 62
36471456 2022
20
Intravenous immunoglobulin prevents peripheral liver transduction of intrathecally delivered AAV vectors. 62
36320416 2022
21
Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions. 62
36454238 2022
22
Metastatic or xenograft colorectal cancer models induce divergent anabolic deficits and expression of pro-inflammatory effectors of muscle wasting in a tumor-type-dependent manner. 62
36201323 2022
23
MicroRNA profiling of different exercise interventions for alleviating skeletal muscle atrophy in naturally aging rats. 62
36457259 2022
24
Neurogenic gluteus medius and minimus muscle atrophy with Trendelenburg's sign after a displaced acetabular fracture of the posterior column - A case report. 62
36465139 2022
25
Brain-derived neurotrophic factor (BDNF): a multifaceted marker in chronic kidney disease. 62
36030459 2022
26
Bacteroides plebeius improves muscle wasting in chronic kidney disease by modulating the gut-renal muscle axis. 62
36458537 2022
27
Combining exercise, protein supplementation and electric stimulation to mitigate muscle wasting and improve outcomes for survivors of critical illness-The ExPrES study. 62
36473808 2022
28
Acute Sarcopenia after Elective and Emergency Surgery. 62
36465176 2022
29
Immunopathology of chronic critical illness in sepsis survivors: Role of abnormal myelopoiesis. 62
36193662 2022
30
Phytochemicals: A potential therapeutic intervention for the prevention and treatment of cachexia. 62
36403384 2022
31
The effect of high-intensity interval training (HIIT) on protein expression in Flexor Hallucis Longus (FHL) and soleus (SOL) in rats with type 2 diabetes. 62
36404870 2022
32
Association between skeletal muscle changes, anthropometric measurements, and clinical outcomes in critically ill trauma and surgical patients: A prospective observational study. 62
35594361 2022
33
Role of the Gut Microbiome in Skeletal Muscle Physiology and Pathophysiology. 62
36121571 2022
34
Targeting cancer cachexia: Molecular mechanisms and clinical study. 62
36105371 2022
35
The location of protein oxidation in dystrophic skeletal muscle from the mdx mouse model of Duchenne muscular dystrophy. 62
36270048 2022
36
Systemic PPMO-mediated dystrophin expression in the Dup2 mouse model of Duchenne muscular dystrophy. 62
36420217 2022
37
Population PK and PD Analysis of Domagrozumab in Pediatric Patients with Duchenne Muscular Dystrophy. 62
36104012 2022
38
Role of noncoding RNAs in pancreatic ductal adenocarcinoma associated cachexia. 62
36280389 2022
39
Effect of GNE Mutations on Cytoskeletal Network Proteins: Potential Gateway to Understand Pathomechanism of GNEM. 62
35503500 2022
40
Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease. 62
36220341 2022
41
Genotype-phenotype correlations in alpha-sarcoglycanopathy: a systematic review. 62
35040091 2022
42
Transcription factor NRF2 as potential therapeutic target for preventing muscle wasting in aging chronic kidney disease patients. 62
36322291 2022
43
Inducible deletion of raptor and mTOR from adult skeletal muscle impairs muscle contractility and relaxation. 62
36255030 2022
44
[Late diagnosis of spinal muscular atrophy in a patient with Down syndrome]. 62
36374068 2022
45
LP07 and LLC preclinical models of lung cancer induce divergent anabolic deficits and expression of pro-inflammatory effectors of muscle wasting. 62
36201324 2022
46
Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy: patterns of community and healthcare provider participation in a Victorian screening program. 62
36192111 2022
47
Cost-effectiveness analysis of gene-based therapies for patients with spinal muscular atrophy type I in Australia. 62
35980467 2022
48
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey. 62
36460469 2022
49
Generation of FOUR iPSC lines (CRICKi004-A; CRICKi005-A; CRICKi006-A, CRICKi007-A) from Spinal muscle atrophy patients with lower extremity dominant (SMALED) phenotype. 62
36332468 2022
50
Interruption of the long non-coding RNA HOTAIR signaling axis ameliorates chemotherapy-induced cachexia in bladder cancer. 62
36471329 2022

Variations for Muscular Atrophy

ClinVar genetic disease variations for Muscular Atrophy:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMCHD1 NM_015295.3(SMCHD1):c.3660_3661del (p.Gly1221fs) MICROSAT Pathogenic
992817 rs2075396572 GRCh37: 18:2743783-2743784
GRCh38: 18:2743785-2743786
2 ATP2B3 NM_001001344.3(ATP2B3):c.3594G>T (p.Lys1198Asn) SNV Pathogenic
242886 rs782596945 GRCh37: X:152845687-152845687
GRCh38: X:153580229-153580229
3 DMD NM_004006.3(DMD):c.1929G>A (p.Trp643Ter) SNV Pathogenic
1708439 GRCh37: X:32583882-32583882
GRCh38: X:32565765-32565765
4 PYGM NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) SNV Pathogenic
2298 rs116987552 GRCh37: 11:64527223-64527223
GRCh38: 11:64759751-64759751
5 BICD2 NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del) DEL Likely Pathogenic
422408 rs1064795760 GRCh37: 9:95481289-95481291
GRCh38: 9:92719007-92719009
6 COL6A3 NM_004369.4(COL6A3):c.8359G>A (p.Ala2787Thr) SNV Uncertain Significance
288385 rs763395740 GRCh37: 2:238249200-238249200
GRCh38: 2:237340557-237340557
7 CACNA1S NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His) SNV Uncertain Significance
977156 rs1157720606 GRCh37: 1:201038724-201038724
GRCh38: 1:201069596-201069596
8 KIF16B NM_024704.5(KIF16B):c.3773_3774del (p.Ala1258fs) DEL Uncertain Significance
1185003 GRCh37: 20:16293001-16293002
GRCh38: 20:16312356-16312357
9 TLL2 NM_012465.4(TLL2):c.112G>C (p.Glu38Gln) SNV Uncertain Significance
633779 rs1292893658 GRCh37: 10:98273331-98273331
GRCh38: 10:96513574-96513574
10 TLL2 NM_012465.4(TLL2):c.1609C>T (p.His537Tyr) SNV Uncertain Significance
633780 rs1589410819 GRCh37: 10:98155061-98155061
GRCh38: 10:96395304-96395304

Expression for Muscular Atrophy

Search GEO for disease gene expression data for Muscular Atrophy.

Pathways for Muscular Atrophy

Pathways related to Muscular Atrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.74 SMN2 SMN1 DDX20

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 axon GO:0030424 10.07 ATP7A DMD GARS1 IGHMBP2 SMN1 SMN2
2 perikaryon GO:0043204 9.97 ZPR1 SMN2 SMN1 ATP7A
3 SMN-Sm protein complex GO:0034719 9.8 SMN2 SMN1 DDX20
4 cell projection GO:0042995 9.65 ZPR1 SMN2 SMN1 IGHMBP2 GARS1 DYNC1H1
5 SMN complex GO:0032797 9.63 SMN2 SMN1 DDX20
6 Gemini of coiled bodies GO:0097504 9.23 ZPR1 SMN2 SMN1 DDX20

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

# Name GO ID Score Top Affiliating Genes
1 DNA-templated transcription termination GO:0006353 9.46 SMN2 SMN1
2 regulation of steroid biosynthetic process GO:0050810 9.26 DDX20 ASAH1
3 spliceosomal snRNP assembly GO:0000387 9.1 SMN2 SMN1 DDX20

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

# Name GO ID Score Top Affiliating Genes
1 ATP hydrolysis activity GO:0016887 9.85 SMCHD1 IGHMBP2 DDX20 ATP7A ATP2B3
2 nucleotide binding GO:0000166 9.28 PYGM NAIP IGHMBP2 GARS1 DYNC1H1 DDX20
3 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds GO:0016810 9.13 DMD ASAH1

Sources for Muscular Atrophy

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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