MCID: MSC003
MIFTS: 55

Muscular Atrophy

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

Aliases & Classifications for Muscular Atrophy

MalaCards integrated aliases for Muscular Atrophy:

Name: Muscular Atrophy 12 41 14 69
Skeletal Muscle Atrophy 69 28
Wasting - Muscle 12
Muscle Wasting 12
Amyotrophia 12

Classifications:



Summaries for Muscular Atrophy

MalaCards based summary : Muscular Atrophy, also known as skeletal muscle atrophy, is related to spinal muscular atrophy, type ii and spinal muscular atrophy, type iv, and has symptoms including neuromuscular manifestations, myokymia and muscle weakness. An important gene associated with Muscular Atrophy is SMN1 (Survival Of Motor Neuron 1, Telomeric). The drugs Pioglitazone and Testosterone have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, bone and spinal cord, and related phenotypes are behavior/neurological and muscle

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 274)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, type ii 34.5 NAIP SMN1 SMN2
2 spinal muscular atrophy, type iv 34.3 SMN1 SMN2 VAPB
3 spinal muscular atrophy, type iii 34.3 NAIP SMN1 SMN2
4 spinal muscular atrophy, type i 34.1 IGHMBP2 NAIP SMN1 SMN2
5 progressive muscular atrophy 34.1 SMN1 SMN2 TRPV4
6 proximal spinal muscular atrophy 34.0 BICD2 NAIP SMN1 SMN2
7 survival motor neuron spinal muscular atrophy 34.0 NAIP SMN1 SMN2 ZPR1
8 juvenile spinal muscular atrophy 33.9 NAIP SMN1 SMN2 VAPB
9 motor neuron disease 32.4 AR DYNC1H1 NAIP SMN1 SMN2 VAPB
10 neuromuscular disease 32.0 NAIP SMN1 SMN2 TRPV4
11 charcot-marie-tooth disease 31.8 DNAJB2 DYNC1H1 GARS IGHMBP2 PLEKHG5 TRPV4
12 spinal disease 31.7 NAIP SMN1 SMN2
13 amyotrophic lateral sclerosis 1 30.8 DNAJB2 NAIP SMN1 SMN2 VAPB
14 spinal muscular atrophy 30.2 AR ASAH1 ATP7A BICD2 DDX20 DNAJB2
15 congenital contractures 29.8 TRIP4 UBA1
16 spinal and bulbar muscular atrophy, x-linked 1 12.7
17 spinal muscular atrophy, distal, autosomal recessive, 1 12.6
18 spinal muscular atrophy, x-linked 2 12.5
19 spinal muscular atrophy with progressive myoclonic epilepsy 12.5
20 spinal muscular atrophy, lower extremity-predominant, 2, autosomal dominant 12.4
21 scapuloperoneal spinal muscular atrophy 12.4
22 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 12.4
23 spinal muscular atrophy, late-onset, finkel type 12.4
24 spinal muscular atrophy, distal, autosomal recessive, 2 12.4
25 spinal muscular atrophy, distal, x-linked 3 12.4
26 spinal muscular atrophy, distal, autosomal recessive, 4 12.4
27 spinal muscular atrophy, jokela type 12.3
28 spinal muscular atrophy, distal, autosomal recessive, 3 12.3
29 spinal muscular atrophy, distal, autosomal recessive, 5 12.3
30 spinal muscular atrophy, type i, with congenital bone fractures 12.3
31 spinal muscular atrophy with congenital bone fractures 2 12.2
32 spinal muscular atrophy, ryukyuan type 12.2
33 pelvic muscle wasting 12.2
34 spinal muscular atrophy with respiratory distress type 2 12.1
35 spastic paraplegia and distal muscle wasting caused by neuropathy target esterase gene mutation 12.1
36 spinal muscular atrophy, segmental 12.1
37 autosomal dominant childhood-onset proximal spinal muscular atrophy 12.1
38 amyotrophy, monomelic 12.0
39 spastic paraplegia 20, autosomal recessive 12.0
40 spinal muscular atrophy-dandy-walker malformation-cataracts syndrome 12.0
41 muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus 12.0
42 neuronopathy, distal hereditary motor, type viii 11.9
43 spinal muscular atrophy, facioscapulohumeral type 11.9
44 adult progressive spinal muscular atrophy aran duchenne type 11.9
45 muscular atrophy, malignant neurogenic 11.9
46 spinal muscular atrophy with mental retardation 11.9
47 spinal muscular atrophy with microcephaly and mental subnormality 11.9
48 charcot-marie-tooth peroneal muscular atrophy, x-linked, with aplasia cutis congenita 11.9
49 charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined 11.9
50 arthrogryposis spinal muscular atrophy 11.9

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:


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

MGI Mouse Phenotypes related to Muscular Atrophy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 AR ASAH1 ATP7A BICD2 DYNC1H1 GARS
2 muscle MP:0005369 9.61 DYNC1H1 GARS IGHMBP2 PLEKHG5 SMN2 TRPV4
3 nervous system MP:0003631 9.32 AR ASAH1 ATP7A BICD2 DYNC1H1 GARS

Drugs & Therapeutics for Muscular Atrophy

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

(show top 50) (show all 316)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
2
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 58-22-0 6013
3
Methyltestosterone Approved Phase 4,Phase 3,Phase 2,Phase 1 58-18-4 6010
4
Fosinopril Approved Phase 4 98048-97-6 55891
5
Acetylcholine Approved Phase 4 51-84-3 187
6
Goserelin Approved Phase 4,Phase 3 65807-02-5 5311128 47725
7
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
8
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
9
Allopurinol Approved Phase 4 315-30-0 2094
10
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 1406-16-2
11
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 1 67-97-0 10883523 5280795 6221
12
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 50-14-6 5280793
13
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 11103-57-4 445354
14 insulin Phase 4,Phase 2,Phase 3,Phase 1
15 Testosterone undecanoate Phase 4,Phase 3,Phase 2,Phase 1
16
Testosterone enanthate Phase 4,Phase 3,Phase 2,Phase 1 315-37-7 9416
17 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1
18 Cholinergic Agents Phase 4,Phase 2
19 Neuroprotective Agents Phase 4,Phase 2,Phase 3
20 Testosterone 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1
21 Anabolic Agents Phase 4,Phase 3,Phase 2,Phase 1
22 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
23 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1
24 Androgens Phase 4,Phase 3,Phase 2,Phase 1
25 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
26 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
27 Vitamins Phase 4,Phase 3,Phase 2,Phase 1
28 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
29 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
30 Ergocalciferols Phase 4,Phase 3,Phase 2,Phase 1
31 Hypoglycemic Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
32 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
33 Insulin, Globin Zinc Phase 4,Phase 2,Phase 3,Phase 1
34 Protective Agents Phase 4,Phase 2,Phase 3
35 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1
36 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2,Phase 1
37 Antirheumatic Agents Phase 4,Phase 3,Phase 2
38 Prednisolone acetate Phase 4
39 glucocorticoids Phase 4,Phase 2,Phase 3
40
protease inhibitors Phase 4
41 abobotulinumtoxinA Phase 4
42 Methylprednisolone acetate Phase 4
43 Methylprednisolone Hemisuccinate Phase 4
44 Retinol palmitate Phase 4
45 rimabotulinumtoxinB Phase 4
46 Neuromuscular Agents Phase 4
47 Gastrointestinal Agents Phase 4
48 HIV Protease Inhibitors Phase 4
49 onabotulinumtoxinA Phase 4
50 Angiotensin-Converting Enzyme Inhibitors Phase 4

Interventional clinical trials:

(show top 50) (show all 643)

# Name Status NCT ID Phase Drugs
1 Pioglitazone, Body Composition,Insulin Sensitivity and Protein Metabolism in ESRD Unknown status NCT01253928 Phase 4 Pioglitazone
2 Body Composition Measurements in Chronic Heart Failure Unknown status NCT02686866 Phase 4
3 Effect of Goserelin (Zoladex®) in Spinal and Bulbar Muscular Atrophy Completed NCT00851461 Phase 4 Goserelin
4 Physiologic Effects of PRMS & Testosterone in the Debilitated Elderly Completed NCT00018356 Phase 4 testosterone
5 Myobloc Atrophy Study Completed NCT02052024 Phase 4 Botox;MYOBLOC
6 Early Goal-Directed Nutrition in ICU Patients - EAT-ICU Trial Completed NCT01372176 Phase 4
7 TENS in Optimizer(R) Patients Completed NCT02692690 Phase 4
8 Angiotensin-converting Enzyme (ACE)-Inhibition and Mechanisms of Skeletal Muscle Weakness in Chronic Obstructive Pulmonary Disease (COPD) Completed NCT01014338 Phase 4 Fosinopril
9 Efficacy Study of Local Steroid Injection and Wrist Splinting for Carpal Tunnel Syndrome Completed NCT02140632 Phase 4
10 Sleep and Training Aspects in Dialysis Fatigue - Exercise Intervention Completed NCT01721551 Phase 4
11 Anabolic and Inflammatory Responses to Short-Term Testosterone Administration in Older Men Completed NCT00957801 Phase 4 Testosterone injection;Testosterone gel
12 Study of The Effects of Testosterone in Frail Elderly Men Completed NCT00190060 Phase 4 Transdermal testosterone gel (Testogel 1% );Matched transdermal placebo gel
13 Trial of Essential Amino Acid Supplementation in Protein Deficient Patients Following Total Knee Arthroplasty Recruiting NCT02926235 Phase 4 Amino Acid
14 Kidney Response to Sepsis Affects Angiogenic Balance and Likelihood of CCI and PICS Recruiting NCT02276066 Phase 4 Iohexol
15 Allopurinol in Functional Impairment (ALFIE) Trial: 'Improving Muscle Strength' Enrolling by invitation NCT01550107 Phase 4 Allopurinol;Lactose tablets
16 LPD+α-ketoacids on Autophagy and Improving Muscle Wasting in CKD Not yet recruiting NCT02568020 Phase 4 keto-amino acids
17 Effects of Supplementation of Vitamin D in Patients With Crohn`s Disease Not yet recruiting NCT02704624 Phase 4
18 TOM: Testosterone in Older Men With Sarcopenia Terminated NCT00240981 Phase 4 Topical testosterone gel 1% (active formulation);Topical gel (placebo formulation)
19 The Effects of Long Term Cyclic Testosterone Administration on Muscle Function and Bone in Older Men Withdrawn NCT01417364 Phase 4 Testosterone enanthate;Testosterone enanthate;Placebo
20 Valproate and Levocarnitine in Children With Spinal Muscular Atrophy Unknown status NCT01671384 Phase 3 Valproate, Levocarnitine;Placebo
21 Nutritional Rehabilitation in Chronic Obstructive Pulmonary Disease (COPD) Patients With Muscle Atrophy Unknown status NCT01344135 Phase 3
22 Study to Assess the Efficacy and Safety of Ibuprofen 50 mg/g Gel Compared to Profenid 25mg/g Gel Unknown status NCT01373697 Phase 3 Ibuprofen;Profenid
23 Testosterone Administration and ACL Reconstruction in Men Unknown status NCT01595581 Phase 3 Testosterone;Saline
24 Different Efficacy Between Rehabilitation Therapy and Stem Cells Transplantation in Patients With SCI in China Unknown status NCT01873547 Phase 3
25 Effect of Vitamin D3 Supplementation on Muscle Mass in ICU Patient Unknown status NCT02594579 Phase 3 Vitamin D3;Placebo
26 A Study to Assess the Efficacy and Safety of Nusinersen (ISIS 396443) in Participants With Later-onset Spinal Muscular Atrophy (SMA) Completed NCT02292537 Phase 3 Nusinersen
27 A Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3 Hydroxyurea
28 Short and Long Term Treatment With 4-AP in Ambulatory SMA Patients Completed NCT01645787 Phase 2, Phase 3 4-aminopyridine;Placebo
29 Effect of GTx-024 on Muscle Wasting in Patients With Non-Small Cell Lung Cancer (NSCLC) on First Line Platinum Completed NCT01355497 Phase 3 GTx-024;placebo
30 Phase III Study of the Effect of GTx-024 on Muscle Wasting in Patients With Non-Small Cell Lung Cancer (NSCLC) Completed NCT01355484 Phase 3 GTx-024;placebo
31 Study to Evaluate the Efficacy of Riluzole in Children and Young Adults With Spinal Muscular Atrophy (SMA) Completed NCT00774423 Phase 2, Phase 3 Riluzole
32 Metabolism and Oxygen Consumption During Functional Electrical Stimulation Cycling in COPD Completed NCT02594722 Phase 3
33 A Long-Term Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00445172 Phase 2, Phase 3 E0302 (mecobalamin)
34 Strength Training in Walking Tolerance in Intermittent Claudication Patients Completed NCT00879697 Phase 3
35 A Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00444613 Phase 2, Phase 3 E0302 (mecobalamin);E0302 (mecobalamin);Placebo
36 An Extension Study of the Efficacy, Safety and Tolerability of BYM338 (Bimagrumab) in Patients With Sporadic Inclusion Body Myositis Who Previously Participated in the Core Study CBYM338B2203 Completed NCT02573467 Phase 3 Bimagrumab;Placebo
37 Safety and Effectiveness Study of rhGAA in Patients With Advanced Late-Onset Pompe Disease Receiving Respiratory Support Completed NCT00268944 Phase 3
38 Efficacy and Safety of Bimagrumab/BYM338 at 52 Weeks on Physical Function, Muscle Strength, Mobility in sIBM Patients Completed NCT01925209 Phase 2, Phase 3 BYM338/bimagrumab;Placebo
39 Effect of Ursolic Acid of Loquat Extract on Function of Muscle Completed NCT02401113 Phase 2, Phase 3
40 Resistance Exercise, Muscle Mass, Strength and Body Composition Completed NCT01766791 Phase 3
41 Effect of Electromyostimulation on Bone Completed NCT01296776 Phase 3
42 Evaluation of an Oral Nutritional Supplement Containing AN777 Completed NCT01191125 Phase 3
43 The Combined Effects of Resistance Training and Flax Oil Supplementation Upon Inflammation in Older Adults Completed NCT00465153 Phase 3
44 Effectiveness of Creatine Supplementation and Exercise on Muscle and Bone Completed NCT01057680 Phase 3
45 Investigate Safety, Tolerability, PK, PD and Efficacy of RO7034067 in Infants With Type1 Spinal Muscular Atrophy Recruiting NCT02913482 Phase 2, Phase 3 RO7034067
46 A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7034067 in Type 2 and 3 Spinal Muscular Atrophy (SMA) Participants Recruiting NCT02908685 Phase 2, Phase 3 Placebo;RO7034067
47 Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 Recruiting NCT03306277 Phase 3
48 Systemic Hormones and Muscle Protein Synthesis Recruiting NCT03054168 Phase 3 Sustanon 250;Zoladex
49 Assessment of the Treatment of Severely Burned With Anabolic Agents on Clinical Outcomes, Recovery and Rehabilitation Recruiting NCT00675714 Phase 2, Phase 3 Humatrope;Ketoconazole;Oxandrolone;Propranolol;Oxandrolone and propranolol combined;Humatrope and propranolol combined;Placebo
50 Mechanisms of Improved Wound Healing and Protein Synthesis of Insulin and Metformin Recruiting NCT01666665 Phase 2, Phase 3 Metformin;Sugar pill

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 Skeletal Muscle Atrophy 28

Anatomical Context for Muscular Atrophy

MalaCards organs/tissues related to Muscular Atrophy:

38
Skeletal Muscle, Bone, Spinal Cord, Testes, Lung, Liver, Kidney

Publications for Muscular Atrophy

Articles related to Muscular Atrophy:

(show top 50) (show all 1477)
# Title Authors Year
1
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. ( 29443664 )
2018
2
Therapy for Spinal Muscular Atrophy. ( 29385371 )
2018
3
Motor neuron disease: A prospective natural history study of type 1 spinal muscular atrophy. ( 29348544 )
2018
4
Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1. ( 29169047 )
2018
5
Therapy for Spinal Muscular Atrophy. ( 29394306 )
2018
6
Increase of HCN current in the aberrant excitability of spinal muscular atrophy. ( 29394509 )
2018
7
Spinobulbar muscular atrophy combined with atypical hereditary neuropathy with liability to pressure palsy. ( 29137918 )
2018
8
Effects of Arm Cycling Exercise in Spinal Muscular Atrophy Type II Patients: A Pilot Study. ( 29327642 )
2018
9
CORRIGENDUM: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. ( 29388943 )
2018
10
Advances in spinal muscular atrophy therapeutics. ( 29434670 )
2018
11
X-Linked Spinal and Bulbar Muscular Atrophy: From Clinical Genetic Features and Molecular Pathology to Mechanisms Underlying Disease Toxicity. ( 29427100 )
2018
12
Type 0 Spinal Muscular Atrophy in rare association with congenital Contracture and generalized osteopenia. ( 29379570 )
2018
13
Tongue Fasciculations and Electrocardiographic Tremors in Spinal Muscular Atrophy. ( 29429566 )
2018
14
New quantitative method for evaluation of motor functions applicable to spinal muscular atrophy. ( 29395660 )
2018
15
Increasing Agrin Function Antagonizes Muscle Atrophy and Motor Impairment in Spinal Muscular Atrophy. ( 29440993 )
2018
16
Making a (cautious) case for expanding reproductive genetic carrier screens: Australian researchers report success, and caveats, with a simultaneous panel of cystic fibrosis, fragile X syndrome, and spinal muscular atrophy. ( 29446568 )
2018
17
The developmental and genetic basis of 'clubfoot' in the peroneal muscular atrophy mutant mouse. ( 29439133 )
2018
18
Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy. ( 29380287 )
2018
19
Small-molecule flunarizine increases SMN protein in nuclear Cajal bodies and motor function in a mouse model of spinal muscular atrophy. ( 29391529 )
2018
20
Only some patients with bulbar and spinal muscular atrophy may develop cardiac disease. ( 29326874 )
2018
21
Therapy for Spinal Muscular Atrophy. ( 29394473 )
2018
22
Advances in therapy for spinal muscular atrophy: promises and challenges. ( 29422644 )
2018
23
Transcript levels of plastin 3 and neuritin 1 modifier genes in spinal muscular atrophy siblings. ( 27279027 )
2017
24
Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain. ( 28821278 )
2017
25
Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study. ( 27939059 )
2017
26
Newborn screening for spinal muscular atrophy: The views of affected families and adults. ( 28374951 )
2017
27
Spinal muscular atrophy: A changing phenotype beyond the clinical trials. ( 28757001 )
2017
28
Long-term treatment with leuprorelin for spinal and bulbar muscular atrophy. ( 28794153 )
2017
29
Positive radionuclide imaging of miRNA expression using RILES and the human sodium iodide symporter as reporter gene is feasible and supports a protective role of miRNA-23a in response to muscular atrophy. ( 28493972 )
2017
30
Patient-identified impact of symptoms in spinal and bulbar muscular atrophy. ( 28877556 )
2017
31
Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development. ( 28193117 )
2017
32
Therapeutic strategies for spinal muscular atrophy: SMN and beyond. ( 28768735 )
2017
33
Evaluation and comparison of three assays for molecular detection of spinal muscular atrophy. ( 27754957 )
2017
34
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. ( 28635954 )
2017
35
Amphiphilic lipopeptide significantly enhances uptake of charge-neutral splice switching morpholino oligonucleotide in spinal muscular atrophy patient-derived fibroblasts. ( 28864392 )
2017
36
Atrial Septal Defect, Neuromuscular Junction and Skeletal Abnormalities in Spinal Muscular Atrophy Type III. ( 28937047 )
2017
37
Motor neuronal repletion of the NMJ organizer, Agrin, modulates the severity of the spinal muscular atrophy disease phenotype in model mice. ( 28379354 )
2017
38
Longitudinal characterization of biomarkers for spinal muscular atrophy. ( 28491897 )
2017
39
Raise the Roof: Boosting the Efficacy of a Spinal Muscular Atrophy Therapy. ( 28056344 )
2017
40
Serum cytokine and chemokine profiles in patients with juvenile muscular atrophy of distal upper extremity (Hirayama disease). ( 27956076 )
2017
41
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis. ( 28132687 )
2017
42
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. ( 28251733 )
2017
43
Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA. ( 28522225 )
2017
44
ISS-N1 makes the First FDA-approved Drug for Spinal Muscular Atrophy. ( 28400976 )
2017
45
Cellular bases of the RNA metabolism dysfunction in motor neurons of a murine model of spinal muscular atrophy: Role of Cajal bodies and the nucleolus. ( 28823932 )
2017
46
Nusinersen: antisense oligonucleotide to increase SMN protein production in spinal muscular atrophy. ( 28799578 )
2017
47
An Evaluation of a Continuing Education Program for Family Caregivers of Ventilator-Dependent Children with Spinal Muscular Atrophy (SMA). ( 28468263 )
2017
48
Clinical Characteristics of Spinal Muscular Atrophy in Korea Confirmed by Genetic Analysis. ( 28792153 )
2017
49
The Antisense Transcript SMN-AS1 Regulates SMN Expression and Is a Novel Therapeutic Target for Spinal Muscular Atrophy. ( 28017471 )
2017
50
ERK and ROCK functionally interact in a signaling network that is compensationally upregulated in Spinal Muscular Atrophy. ( 28916199 )
2017

Variations for Muscular Atrophy

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 cell projection GO:0042995 9.91 GARS IGHMBP2 PLEKHG5 SMN1 SMN2 TRPV4
2 neuron projection GO:0043005 9.73 ATP7A NAIP SMN1 SMN2
3 growth cone GO:0030426 9.65 IGHMBP2 TRPV4 ZPR1
4 Cajal body GO:0015030 9.58 SMN1 SMN2 ZPR1
5 perikaryon GO:0043204 9.55 ATP7A NAIP SMN1 SMN2 ZPR1
6 SMN-Sm protein complex GO:0034719 9.43 DDX20 SMN1 SMN2
7 Gemini of coiled bodies GO:0097504 9.26 DDX20 SMN1 SMN2 ZPR1
8 SMN complex GO:0032797 9.02 DDX20 IGHMBP2 SMN1 SMN2 ZPR1
9 cytosol GO:0005829 10.23 AR ATP7A BICD2 DDX20 DNAJB2 DYNC1H1
10 cytoplasm GO:0005737 10.22 AR ATP7A BICD2 DDX20 DNAJB2 DYNC1H1

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

# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.62 DDX20 SMN1 SMN2 ZPR1
2 RNA splicing GO:0008380 9.56 DDX20 SMN1 SMN2 ZPR1
3 DNA-templated transcription, termination GO:0006353 9.16 SMN1 SMN2
4 spliceosomal snRNP assembly GO:0000387 9.13 DDX20 SMN1 SMN2
5 nuclear import GO:0051170 8.8 DDX20 SMN1 SMN2

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.89 AR ATP7A BICD2 DDX20 DNAJB2 DYNC1H1
2 ATP binding GO:0005524 9.23 ATP7A DDX20 DYNC1H1 GARS IGHMBP2 NAIP

Sources for Muscular Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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