Muscular Atrophy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: MSC003 MIFTS: 52	Muscular Atrophy Categories: Bone diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Muscle diseases Bone diseases Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:767

MeSH ⁴³ D009133

NCIt ⁴⁹ C94834

SNOMED-CT ⁶⁷ 88092000

UMLS ⁷¹ C0026846 C0541794

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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 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

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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 842)

#	Related Disease	Score	Top Affiliating Genes
1	spinal and bulbar muscular atrophy, x-linked 1	35.3	SMN2 SMN1 AR
2	spinal muscular atrophy, distal, autosomal recessive, 1	35.3	SMN2 SMN1 IGHMBP2 GARS1
3	spinal muscular atrophy, type iv	35.3	SMN2 SMN1 NAIP
4	spinal muscular atrophy, type ii	35.2	SMN2 SMN1 NAIP IGHMBP2 BICD2
5	spinal muscular atrophy with progressive myoclonic epilepsy	35.1	SMN2 SMN1 ASAH1
6	scapuloperoneal spinal muscular atrophy	35.1	TRPV4 IGHMBP2 GARS1 BICD2
7	spinal muscular atrophy, type iii	35.1	SMN2 SMN1 SERF1A NAIP IGHMBP2
8	progressive muscular atrophy	35.1	VAPB TRPV4 SMN2 SMN1
9	spinal muscular atrophy, distal, autosomal recessive, 2	35.0	TRPV4 GARS1 BICD2
10	spinal muscular atrophy, type i	34.9	ZPR1 VRK1 SMN2 SMN1 SERF1A NAIP
11	proximal spinal muscular atrophy	34.9	VAPB SMN2 SMN1 NAIP BICD2
12	spinal muscular atrophy with lower extremity predominance	34.9	VAPB IGHMBP2 GARS1 DYNC1H1 BICD2
13	childhood spinal muscular atrophy	34.7	SMN2 SMN1 SERF1A NAIP IGHMBP2 BICD2
14	neuronopathy, distal hereditary motor, type va	34.6	SMN2 SMN1 IGHMBP2 GARS1 DNAJB2
15	spinal muscular atrophy	34.2	ZPR1 VRK1 VAPB UBA1 TRPV4 TRIP4
16	autosomal dominant distal hereditary motor neuronopathy	33.9	TRPV4 IGHMBP2 GARS1 DYNC1H1 BICD2
17	charcot-marie-tooth hereditary neuropathy	33.8	TRPV4 IGHMBP2 GARS1
18	autosomal recessive distal hereditary motor neuronopathy	33.7	SMN2 SMN1 IGHMBP2 GARS1 ATP7A
19	motor neuron disease	33.4	VAPB TRPV4 SMN2 SMN1 PLEKHG5 NAIP
20	neuronopathy, distal hereditary motor, type viib	33.4	DYNC1H1 AR
21	distal hereditary motor neuropathies	33.2	TRPV4 IGHMBP2 GARS1
22	neuromuscular disease	33.0	TRPV4 SMN2 SMN1 NAIP IGHMBP2 GARS1
23	spinal disease	32.9	SMN2 SMN1 NAIP AR
24	charcot-marie-tooth disease	32.8	VAPB TRPV4 SMN2 SMN1 PLEKHG5 IGHMBP2
25	motor peripheral neuropathy	32.5	TRPV4 IGHMBP2 GARS1 DYNC1H1 DNAJB2 BICD2
26	neuronopathy, distal hereditary motor, type iib	32.5	IGHMBP2 GARS1
27	amyotrophic lateral sclerosis 1	32.4	VAPB TRIP4 SMN2 SMN1 NAIP IGHMBP2
28	neuropathy	31.7	TRPV4 IGHMBP2 GARS1 DYNC1H1
29	tooth disease	31.7	TRPV4 PLEKHG5 IGHMBP2 GARS1 DYNC1H1
30	juvenile amyotrophic lateral sclerosis	31.6	VRK1 PLEKHG5
31	congenital contractures	31.3	VRK1 UBA1 TRIP4
32	anterior horn cell disease	31.3	VRK1 UBA1 SMN2 SMN1 IGHMBP2
33	peripheral nervous system disease	31.2	TRPV4 SMN2 SMN1 GARS1
34	axonal neuropathy	31.2	VRK1 TRPV4 GARS1
35	genetic motor neuron disease	31.0	TRPV4 PLEKHG5 GARS1 DYNC1H1
36	myopathy	30.9	SMN1 IGHMBP2 DYNC1H1 BICD2 ATP7A AR
37	hereditary motor and sensory neuropathy, type iic	30.4	TRPV4 GARS1
38	spinal muscular atrophy, x-linked 2	12.9
39	spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	12.9
40	spinal muscular atrophy, distal, x-linked 3	12.8
41	spinal muscular atrophy, late-onset, finkel type	12.8
42	spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant	12.8
43	spinal muscular atrophy, distal, autosomal recessive, 3	12.8
44	spinal muscular atrophy, distal, autosomal recessive, 4	12.7
45	spinal muscular atrophy with congenital bone fractures 1	12.7
46	spinal muscular atrophy, jokela type	12.7
47	spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant	12.7
48	spinal muscular atrophy with congenital bone fractures 2	12.6
49	spinal muscular atrophy, distal, autosomal recessive, 5	12.6
50	autosomal dominant spinal muscular atrophy, lower extremity-predominant 2	12.6

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

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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	9.6	VRK1
2	Decreased viability	GR00221-A-2	9.6	VRK1
3	Decreased viability	GR00221-A-4	9.6	VRK1
4	Decreased viability	GR00240-S-1	9.6	ASAH1 SMN2
5	Decreased viability	GR00249-S	9.6	ATP7A NAIP TRPV4
6	Decreased viability	GR00301-A	9.6	VRK1
7	Decreased viability	GR00381-A-1	9.6	ASAH1 UBA1
8	Decreased viability	GR00386-A-1	9.6	ASAH1 ATP2B3 ATP7A NAIP
9	Decreased viability	GR00402-S-2	9.6	GARS1 UBA1 VAPB ZPR1

MGI Mouse Phenotypes related to Muscular Atrophy:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.73	AR ASAH1 ATP2B3 ATP7A BICD2 DNAJB2
2	muscle	MP:0005369	9.32	AR ASAH1 ATP7A DYNC1H1 GARS1 IGHMBP2

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Drugs & Therapeutics for Muscular Atrophy

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

(show top 50) (show all 258)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Pioglitazone

Approved, Investigational

Phase 4

111025-46-8

4829

Clobetasol

Approved, Experimental, Investigational

Phase 4

25122-41-2, 25122-46-7

32798 5311051

Fosinopril

Approved

Phase 4

98048-97-6

55891

Riluzole

Approved, Investigational

Phase 4

1744-22-5

5070

Acetaminophen

Approved

Phase 4

103-90-2

1983

Sodium citrate

Approved, Investigational

Phase 4

68-04-2

Methylprednisolone

Approved, Vet_approved

Phase 4

83-43-2

6741

Methylprednisolone hemisuccinate

Approved

Phase 4

2921-57-5

Prednisolone phosphate

Approved, Vet_approved

Phase 4

302-25-0

Prednisolone acetate

Approved, Vet_approved

Phase 4

52-21-1

Prednisolone

Approved, Vet_approved

Phase 4

50-24-8

5755

Glutamic acid

Approved, Nutraceutical

Phase 4

56-86-0

33032

Citric acid

Approved, Nutraceutical, Vet_approved

Phase 4

77-92-9

311

Prednisolone hemisuccinate

Experimental

Phase 4

2920-86-7

Anticonvulsants

Phase 4

Neurotransmitter Agents

Phase 4

Antihypertensive Agents

Phase 4

Angiotensin-Converting Enzyme Inhibitors

Phase 4

protease inhibitors

Phase 4

HIV Protease Inhibitors

Phase 4

Excitatory Amino Acid Antagonists

Phase 4

Analgesics, Non-Narcotic

Phase 4

Antipyretics

Phase 4

glucocorticoids

Phase 4

Protective Agents

Phase 4

Antineoplastic Agents, Hormonal

Phase 4

Hormones

Phase 4

Hormone Antagonists

Phase 4

Anti-Inflammatory Agents

Phase 4

Neuroprotective Agents

Phase 4

Citrate

Phase 4

Phosphodiesterase Inhibitors

Phase 4

Phosphodiesterase 5 Inhibitors

Phase 4

Vasodilator Agents

Phase 4

Sildenafil Citrate

Phase 4

171599-83-0

Gastrointestinal Agents

Phase 4

Methylprednisolone Acetate

Phase 4

Antiemetics

Phase 4

Serine

Investigational, Nutraceutical

Phase 4

56-45-1

5951

Valproic acid

Approved, Investigational

Phase 3

99-66-1

3121

Ketoprofen

Approved, Vet_approved

Phase 3

22071-15-4

3825

Hydroxyurea

Approved

Phase 2, Phase 3

127-07-1

3657

Methylcobalamin

Approved, Investigational

Phase 2, Phase 3

13422-55-4

Hydroxocobalamin

Approved

Phase 2, Phase 3

13422-51-0

15589840 11953898

Miglustat

Approved

Phase 3

72599-27-0

51634

Goserelin

Approved

Phase 3

65807-02-5

5311128 47725

Testosterone

Approved, Experimental, Investigational

Phase 2, Phase 3

58-22-0, 481-30-1

10204 6013

Testosterone enanthate

Approved

Phase 2, Phase 3

315-37-7

9416

Testosterone undecanoate

Approved, Investigational

Phase 2, Phase 3

5949-44-0

Methyltestosterone

Approved

Phase 2, Phase 3

58-18-4

6010

Interventional clinical trials:

(show top 50) (show all 587)

#	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	RolE of AST120 in sarCOpenia preVEntion in pRe-dialYsis Chronic Kidney Disease Patients (RECOVERY): Prospective Open-label Randomized Controlled Multicenter Study	Active, not recruiting	NCT03788252	Phase 4	Renamezin
14	A Long-term Follow-up Study of Patients in the Clinical Trials for Spinal Muscular Atrophy Receiving AVXS-101	Enrolling by invitation	NCT04042025	Phase 4
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	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
34	Effects of Growth Hormone on Corticoid Myopathy in Children With Chronic Disease: Effects on Muscle Mass and Strength	Completed	NCT00813189	Phase 3
35	The Augmented Versus Routine Approach to Giving Energy Trial: A Randomised Controlled Trial	Completed	NCT02306746	Phase 3
36	Escalating Dose and Randomized, Controlled Study of Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy	Recruiting	NCT04089566	Phase 2, Phase 3	Nusinersen
37	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
38	Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases	Recruiting	NCT03822013	Phase 3	Miglustat
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, 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
41	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
42	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
43	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
44	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
45	Growth Hormone Therapy for Muscle Regeneration in Severely Burned Patients	Active, not recruiting	NCT03038594	Phase 2, Phase 3	Somatropin;0.09% Saline Solution
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

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Genetic Tests for Muscular Atrophy

Sources

Anatomical Context for Muscular Atrophy

MalaCards organs/tissues related to Muscular Atrophy:

⁴⁰

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

Sources

Publications for Muscular Atrophy

Articles related to Muscular Atrophy:

(show top 50) (show all 12383)

#	Title	Authors	PMID	Year
1	Is inflammatory signaling involved in disease-related muscle wasting? Evidence from osteoarthritis, chronic obstructive pulmonary disease and type II diabetes. ⁶¹	Dalle S...Koppo K	32407865	2020
2	A survey of transcripts generated by spinal muscular atrophy genes. ⁶¹	Singh NN...Singh RN	32387331	2020
3	Macrophages potentiate STAT3 signaling in skeletal muscles and regulate pancreatic cancer cachexia. ⁶¹	Shukla SK...Mehla K	32344015	2020
4	Redox modulation of muscle mass and function. ⁶¹	Gomez-Cabrera MC...Vina J	32371010	2020
5	Molecular inversion probe-rolling circle amplification with single-strand poly-T luminescent copper nanoclusters for fluorescent detection of single-nucleotide variant of SMN gene in diagnosis of spinal muscular atrophy. ⁶¹	Chen CA...Wu SM	32507240	2020
6	Quantifying skeletal muscle wasting during chemoradiotherapy with Jacobian calculations for the prediction of survival and toxicity in patients with gastric cancer. ⁶¹	Yang W...Zhang Z	32307187	2020
7	Sarcopenia and Cardiac Dysfunction. ⁶¹	Wong A...Frishman W	31868771	2020
8	Smaller Left Ventricle Size at Noncontrast CT Is Associated with Lower Mortality in COPDGene Participants. ⁶¹	Washko GR...COPDGene Investigators	32368963	2020
9	First case of a dog infected with Aspergillus (Phialosimplex) caninus in Australasia. ⁶¹	Yang W...Langner K	31852374	2020
10	Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population. ⁶¹	Park JE...Ki CS	32067433	2020
11	Computed-tomography-guided transforaminal intrathecal nusinersen injection in adults with spinal muscular atrophy type 2 and severe spinal deformity. Feasibility, safety and radiation exposure considerations. ⁶¹	Spiliopoulos S...Brountzos E	32250518	2020
12	Ultrasound assessment of diaphragmatic function in type 1 spinal muscular atrophy. ⁶¹	Buonsenso D...Pane M	32394611	2020
13	Spinal muscular atrophy care in the COVID-19 pandemic era. ⁶¹	Veerapandiyan A...Ciafaloni E	32329921	2020
14	ALS and Parkinson's disease genes CHCHD10 and CHCHD2 modify synaptic transcriptomes in human iPSC-derived motor neurons. ⁶¹	Harjuhaahto S...Tyynismaa H	32437855	2020
15	Molecular analysis and clinical diversity of distal hereditary motor neuropathy. ⁶¹	Liu X...Fan D	32298515	2020
16	Multiple MuSK signaling pathways and the aging neuromuscular junction. ⁶¹	Fish LA...Fallon JR	32353380	2020
17	Superiority of sonographic evaluation of contracted versus relaxed muscle thickness in motor neuron diseases. ⁶¹	Abraham A...Drory VE	32387966	2020
18	Clinical spectrum of BICD2 mutations. ⁶¹	Frasquet M...Sevilla T	32056343	2020
19	MEF2 impairment underlies skeletal muscle atrophy in polyglutamine disease. ⁶¹	Nath SR...Lieberman AP	32306066	2020
20	Glial cells involvement in spinal muscular atrophy: Could SMA be a neuroinflammatory disease? ⁶¹	Abati E...Corti S	32294521	2020
21	Early Results of a Management Algorithm for Collapsing Spine Deformity in Young Children (Below 10-Year Old) With Spinal Muscular Atrophy Type II. ⁶¹	Bekmez S...Yazici M	32501901	2020
22	Down-Regulation of Mitochondrial Metabolism after Tendon Release Primes Lipid Accumulation in Rotator Cuff Muscle. ⁶¹	Fluck M...Gerber C	32305353	2020
23	Histone acetyltransferase inhibition rescues differentiation of emerin-deficient myogenic progenitors. ⁶¹	Bossone KA...Holaska JM	32304242	2020
24	Modification of Neuromuscular Junction Protein Expression by Exercise and Doxorubicin. ⁶¹	Huertas AM...Smuder AJ	31985575	2020
25	Intrathecal delivery of nusinersen in individuals with complicated spines. ⁶¹	Cartwright MS...West TG	32319101	2020
26	Potential mechanisms of uremic muscle wasting and the protective role of the mitochondria-targeted antioxidant Mito-TEMPO. ⁶¹	Liu Y...Ding W	32488756	2020
27	Serological evaluation of selected vector-borne pathogens in owned dogs from northern Spain based on a multicenter study using a commercial test. ⁶¹	Diaz-Reganon D...Sainz A	32522246	2020
28	Parkin Overexpression Attenuates Sepsis-Induced Muscle Wasting. ⁶¹	Leduc-Gaudet JP...Gouspillou G	32545383	2020
29	The gut microbiota attenuates muscle wasting by regulating energy metabolism in chemotherapy-induced malnutrition rats. ⁶¹	Chen H...Yao Q	32415349	2020
30	Peptide-2 from mouse myostatin precursor protein alleviates muscle wasting in cancer-associated cachexia. ⁶¹	Ojima C...Itoh F	32519375	2020
31	IN VITRO AND IN VIVO MODELS OF AMYOTROPHIC LATERAL SCLEROSIS: AN UPDATED OVERVIEW. ⁶¹	Gois AM...Santos JR	32247802	2020
32	A de novo c.1509dupA:p.R503fs mutation of FUS: report of a girl with sporadic juvenile amyotrophic lateral sclerosis. ⁶¹	Chen L...Liu Y	32501131	2020
33	Interleukin-4 administration improves muscle function, adult myogenesis, and lifespan of colon carcinoma-bearing mice. ⁶¹	Costamagna D...Sampaolesi M	32103619	2020
34	TGF-β Pathway Inhibition Protects the Diaphragm From Sepsis-Induced Wasting and Weakness in Rat. ⁶¹	Jude B...Pennec JP	32413000	2020
35	Sarcopenia and health-related quality of life in older adults after transcatheter aortic valve replacement. ⁶¹	Damluji AA...Batchelor W	32416332	2020
36	Fam83d modulates MAP kinase and AKT signaling and is induced during neurogenic skeletal muscle atrophy. ⁶¹	Cooper LM...Waddell DS	32092437	2020
37	Recovery of muscle mass and muscle oxidative phenotype following disuse does not require GSK-3 inactivation. ⁶¹	Theeuwes WF...Langen RCJ	32087280	2020
38	Repeated eccentric contractions positively regulate muscle oxidative metabolism and protein synthesis during cancer cachexia in mice. ⁶¹	Hardee JP...Carson JA	32407241	2020
39	Is prophylactic formal fusion with implant revision necessary in non-ambulatory children with spinal muscular atrophy and growing rods who are no longer lengthened? ⁶¹	Hanna R...Halanski MA	32096140	2020
40	The value of preoperative labs in identifying "at-risk" patients for developing surgical site infections after pediatric neuromuscular spine deformity surgery. ⁶¹	Furdock R...Luhmann SJ	31925757	2020
41	Effects of magnetically controlled growing rods surgery on pulmonary function in young subjects with spinal muscular atrophy type 2 and other neuromuscular scoliosis. ⁶¹	Colombo L...Lamartina C	28565896	2020
42	Scoliosis in spinal muscular atrophy: is the preoperative magnetic resonance imaging necessary? ⁶¹	Davies NR...Noel MA	32495206	2020
43	Knowledge and attitudes about burn complications in medical students. ⁶¹	Ali MB...Imtiaz F	31694789	2020
44	Clinical Course in a Patient With Spinal Muscular Atrophy Type 0 Treated With Nusinersen and Onasemnogene Abeparvovec. ⁶¹	Matesanz SE...Kichula EA	32515646	2020
45	The β-arrestin-biased β-adrenergic receptor blocker carvedilol enhances skeletal muscle contractility. ⁶¹	Kim J...Lefkowitz RJ	32414934	2020
46	Skeletal muscle adaptations to heat therapy. ⁶¹	Kim K...Roseguini BT	32352340	2020
47	Exposure of low-concentration arsenic induces myotube atrophy by inhibiting an Akt signaling pathway. ⁶¹	Chiu CY...Liu SH	32184170	2020
48	Human laminin-111 and laminin-211 protein therapy prevents muscle disease progression in an immunodeficient mouse model of LAMA2-CMD. ⁶¹	Barraza-Flores P...Burkin DJ	32498713	2020
49	Microvascular disease in chronic kidney disease: the base of the iceberg in cardiovascular comorbidity. ⁶¹	Querfeld U...Pries AR	32542397	2020
50	The EX-FRAIL CKD trial: a study protocol for a pilot randomised controlled trial of a home-based EXercise programme for pre-frail and FRAIL, older adults with Chronic Kidney Disease. ⁶¹	Nixon AC...Dhaygude AP	32571859	2020

Sources

Genes for Muscular Atrophy

Genes related to Muscular Atrophy (1 elite genes):

(show top 50) (show all 60)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ATP2B3	ATPase Plasma Membrane Ca2+ Transporting 3	Protein Coding	404.08	Pathogenic ⁶ DISEASES inferred ¹⁵
2	SMN1	Survival Of Motor Neuron 1, Telomeric	Protein Coding	59.27	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)
3	SMN2	Survival Of Motor Neuron 2, Centromeric	Protein Coding	47.62	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
4	ATP7A	ATPase Copper Transporting Alpha	Protein Coding	43.72	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
5	AR	Androgen Receptor	Protein Coding	43.32	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)
6	ASAH1	N-Acylsphingosine Amidohydrolase 1	Protein Coding	41.75	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
7	TRIP4	Thyroid Hormone Receptor Interactor 4	Protein Coding	39.28	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
8	IGHMBP2	Immunoglobulin Mu DNA Binding Protein 2	Protein Coding	37.14	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
9	BICD2	BICD Cargo Adaptor 2	Protein Coding	36.16	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
10	VAPB	VAMP Associated Protein B And C	Protein Coding	35.58	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
11	TRPV4	Transient Receptor Potential Cation Channel Subfamily V Member 4	Protein Coding	35.06	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
12	NAIP	NLR Family Apoptosis Inhibitory Protein	Protein Coding	34.72	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries Functions (show sections)
13	UBA1	Ubiquitin Like Modifier Activating Enzyme 1	Protein Coding	34.6	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
14	PLEKHG5	Pleckstrin Homology And RhoGEF Domain Containing G5	Protein Coding	34.04	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Summaries Variants (show sections)
15	GARS1	Glycyl-TRNA Synthetase 1	Protein Coding	33.91	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
16	DYNC1H1	Dynein Cytoplasmic 1 Heavy Chain 1	Protein Coding	33.77	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
17	DNAJB2	DnaJ Heat Shock Protein Family (Hsp40) Member B2	Protein Coding	32.81	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
18	ZPR1	ZPR1 Zinc Finger	Protein Coding	31.18	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries Expressions (show sections)
19	VRK1	VRK Serine/Threonine Kinase 1	Protein Coding	31.18	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
20	SERF1A	Small EDRK-Rich Factor 1A	Protein Coding	31.1	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Gene name Summaries (show sections)
21	ASCC1	Activating Signal Cointegrator 1 Complex Subunit 1	Protein Coding	30.47	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
22	LOC109504725	Androgen Receptor Repeat Instability Region	Biological Region	25.9	GeneCards inferred via : Publications Gene name Summaries (show sections)
23	CHCHD10	Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 10	Protein Coding	23.74	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
24	SIGMAR1	Sigma Non-Opioid Intracellular Receptor 1	Protein Coding	22.92	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
25	DDX20	DEAD-Box Helicase 20	Protein Coding	22.86	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
26	GTF2H2	General Transcription Factor IIH Subunit 2	Protein Coding	22.26	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
27	SETX	Senataxin	Protein Coding	22.19	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
28	DCTN1	Dynactin Subunit 1	Protein Coding	22.08	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Summaries (show sections)
29	FUS	FUS RNA Binding Protein	Protein Coding	21.55	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
30	CAV3	Caveolin 3	Protein Coding	21.29	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
31	SMNDC1	Survival Motor Neuron Domain Containing 1	Protein Coding	20.95	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
32	HSPB8	Heat Shock Protein Family B (Small) Member 8	Protein Coding	20.95	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
33	KDSR	3-Ketodihydrosphingosine Reductase	Protein Coding	20.73	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
34	TBCE	Tubulin Folding Cofactor E	Protein Coding	19.89	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
35	MORC2	MORC Family CW-Type Zinc Finger 2	Protein Coding	19.48	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
36	TLL2	Tolloid Like 2	Protein Coding	19.22	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
37	SLC5A7	Solute Carrier Family 5 Member 7	Protein Coding	18.9	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
38	FBXO38	F-Box Protein 38	Protein Coding	18.45	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
39	MSTN	Myostatin	Protein Coding	15.71	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
40	GEMIN2	Gem Nuclear Organelle Associated Protein 2	Protein Coding	15.29	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
41	TRIM63	Tripartite Motif Containing 63	Protein Coding	15.13	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
42	PAX7	Paired Box 7	Protein Coding	15.1	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
43	MIR9-1	MicroRNA 9-1	RNA Gene	14.92	DISEASES inferred ¹⁵ ¹⁵ GeneCards inferred via : Publications (show sections)
44	CAPN3	Calpain 3	Protein Coding	14.34	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
45	PLS3	Plastin 3	Protein Coding	13.94	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
46	COIL	Coilin	Protein Coding	13.9	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
47	FST	Follistatin	Protein Coding	13.43	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
48	C9orf72	C9orf72-SMCR8 Complex Subunit	Protein Coding	13.32	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
49	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	13.09	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
50	HNRNPA1	Heterogeneous Nuclear Ribonucleoprotein A1	Protein Coding	13.07	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)

Sources

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

Sources

Expression for Muscular Atrophy

Search GEO for disease gene expression data for Muscular Atrophy.

Sources

Pathways for Muscular Atrophy

Sources

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	10.18	VRK1 UBA1 TRIP4 SMN2 SMN1 SERF1A
2	cell	GO:0005623	9.95	VAPB TRPV4 DYNC1H1 DNAJB2 ATP7A ATP2B3
3	cell projection	GO:0042995	9.8	ZPR1 TRPV4 SMN2 SMN1 PLEKHG5 IGHMBP2
4	axon	GO:0030424	9.72	ZPR1 SMN2 SMN1 IGHMBP2 GARS1
5	Cajal body	GO:0015030	9.58	ZPR1 SMN2 SMN1
6	cytoplasm	GO:0005737	9.58	ZPR1 VRK1 VAPB UBA1 TRIP4 SMN2
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	10.11	ZPR1 VRK1 VAPB UBA1 TRPV4 TRIP4
2	nucleotide binding	GO:0000166	9.61	VRK1 UBA1 TRPV4 NAIP IGHMBP2 GARS1
3	ATP binding	GO:0005524	9.28	VRK1 UBA1 TRPV4 NAIP IGHMBP2 GARS1
4	cation-transporting ATPase activity	GO:0019829	9.26	ATP7A ATP2B3

Sources

Sources for Muscular Atrophy

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia