MCID: MSC003
MIFTS: 49

Muscular Atrophy

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Muscular Atrophy

MalaCards integrated aliases for Muscular Atrophy:

Name: Muscular Atrophy 12 42 14 69
Skeletal Muscle Atrophy 69
Wasting - Muscle 12
Muscle Wasting 12
Amyotrophia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:767
MeSH 42 D009133
NCIt 47 C94834
UMLS 69 C0026846

Summaries for Muscular Atrophy

MalaCards based summary : Muscular Atrophy, also known as skeletal muscle atrophy, is related to spinal muscular atrophy-3 and spinal muscular atrophy-4, and has symptoms including muscular fasciculation, muscle cramp and spasm. An important gene associated with Muscular Atrophy is SMN1 (Survival Of Motor Neuron 1, Telomeric). The drugs Pioglitazone and Methyltestosterone 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 226)
id Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy-3 33.9 NAIP SMN1 SMN2
2 spinal muscular atrophy-4 33.5 NAIP SMN1 SMN2 VAPB
3 spinal muscular atrophy-2 33.2 IGHMBP2 NAIP SMN1 SMN2 ZPR1
4 spinal muscular atrophy 12.6
5 spinal and bulbar muscular atrophy of kennedy 12.5
6 progressive muscular atrophy 12.4
7 spinal muscular atrophy, lower extremity-predominant, 2, ad 12.3
8 spinal muscular atrophy with progressive myoclonic epilepsy 12.3
9 scapuloperoneal spinal muscular atrophy 12.3
10 spinal muscular atrophy, x-linked 2, infantile 12.3
11 spinal muscular atrophy, distal, congenital nonprogressive 12.3
12 spinal muscular atrophy, late-onset, finkel type 12.3
13 spinal muscular atrophy, lower extremity-predominant 1, ad 12.3
14 spinal muscular atrophy, distal, autosomal recessive, 2 12.3
15 proximal spinal muscular atrophy 12.3
16 spinal muscular atrophy, distal, autosomal recessive, 4 12.3
17 spinal muscular atrophy, distal, x-linked 3 12.3
18 spinal muscular atrophy, distal, autosomal recessive, 5 12.2
19 spinal muscular atrophy, jokela type 12.2
20 survival motor neuron spinal muscular atrophy 12.2
21 spinal muscular atrophy, distal, autosomal recessive, 3 12.2
22 spinal muscular atrophy with congenital bone fractures 1 12.1
23 spinal muscular atrophy with congenital bone fractures 2 12.1
24 neuronopathy, distal hereditary motor, type vi 12.0
25 spinal muscular atrophy ryukyuan type 12.0
26 spinal muscular atrophy with respiratory distress type 2 12.0
27 spinal muscular atrophy-1 12.0
28 autosomal dominant childhood-onset proximal spinal muscular atrophy 12.0
29 pelvic muscle wasting 11.9
30 spastic paraplegia and distal muscle wasting caused by neuropathy target esterase gene mutation 11.9
31 mental retardation, x-linked, with short stature, small testes, muscle wasting, and tremor 11.9
32 spinal muscular atrophy-dandy-walker malformation-cataracts syndrome 11.9
33 muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus 11.9
34 spinal muscular atrophy, lower extremity, autosomal dominant 11.9
35 troyer syndrome 11.9
36 adult progressive spinal muscular atrophy aran duchenne type 11.8
37 arthrogryposis spinal muscular atrophy 11.8
38 congenital benign spinal muscular atrophy dominant 11.8
39 distal spinal muscular atrophy 4 11.8
40 prenatal-onset spinal muscular atrophy with congenital bone fractures 11.8
41 amyotrophy, monomelic 11.7
42 charcot-marie-tooth disease 11.7
43 primrose syndrome 11.6
44 neuropathy, distal hereditary motor, type va 11.5
45 motor neuron disease 11.5
46 neuronopathy, distal hereditary motor, type i 11.5
47 mental retardation, x-linked, syndromic 15 11.5
48 autoinflammation, lipodystrophy, and dermatosis syndrome 11.5
49 neuronopathy, distal hereditary motor, type vb 11.5
50 jankovic rivera syndrome 11.5

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:


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

MGI Mouse Phenotypes related to Muscular Atrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 TRPV4 VAPB AR ASAH1 ATP7A BICD2
2 muscle MP:0005369 9.61 AR ATP7A DYNC1H1 GARS IGHMBP2 PLEKHG5
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 313)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
2
Methyltestosterone Approved Phase 4,Phase 3,Phase 2,Phase 1 58-18-4 6010
3
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 58-22-0 6013
4
Goserelin Approved Phase 4,Phase 3 65807-02-5 47725 5311128
5
Acetylcholine Approved Phase 4,Phase 2 51-84-3 187
6
Fosinopril Approved Phase 4 98048-97-6 55891
7
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
8
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
9
Allopurinol Approved Phase 4 315-30-0 2094
10
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 1 67-97-0 6221 10883523 5280795
11
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 50-14-6 5280793
12
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 1406-16-2
13
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
14 Hypoglycemic Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
15 insulin Phase 4,Phase 2,Phase 3,Phase 1
16 Insulin, Globin Zinc Phase 4,Phase 2,Phase 3,Phase 1
17 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1
18 Anabolic Agents Phase 4,Phase 3,Phase 2,Phase 1
19 Androgens Phase 4,Phase 3,Phase 2,Phase 1
20 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
21 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
22 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
23 Testosterone 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1
24
Testosterone enanthate Phase 4,Phase 3,Phase 2,Phase 1 315-37-7 9416
25 Testosterone undecanoate Phase 4,Phase 3,Phase 2,Phase 1
26 Cholinergic Agents Phase 4,Phase 2
27 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1
28 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
29 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
30 Neuroprotective Agents Phase 4,Phase 2,Phase 3
31 Protective Agents Phase 4,Phase 2,Phase 3
32 Antirheumatic Agents Phase 4,Phase 3,Phase 2
33 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2,Phase 1
34 Ergocalciferols Phase 4,Phase 3,Phase 2,Phase 1
35 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1
36 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1
37 Vitamins Phase 4,Phase 3,Phase 2,Phase 1
38 abobotulinumtoxinA Phase 4,Phase 2
39 Botulinum Toxins Phase 4,Phase 2
40 Botulinum Toxins, Type A Phase 4,Phase 2
41 Neuromuscular Agents Phase 4,Phase 2
42 onabotulinumtoxinA Phase 4,Phase 2
43 rimabotulinumtoxinB Phase 4
44 Angiotensin-Converting Enzyme Inhibitors Phase 4
45 Antihypertensive Agents Phase 4,Phase 2,Phase 3,Phase 1
46 HIV Protease Inhibitors Phase 4
47
protease inhibitors Phase 4
48 Antiemetics Phase 4
49 Autonomic Agents Phase 4,Phase 2,Phase 3
50 Gastrointestinal Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 641)

id Name Status NCT ID Phase Drugs
1 Pioglitazone, Body Composition,Insulin Sensitivity and Protein Metabolism in ESRD Unknown status NCT01253928 Phase 4 Pioglitazone
2 Effect of Goserelin (Zoladex®) in Spinal and Bulbar Muscular Atrophy Completed NCT00851461 Phase 4 Goserelin
3 Physiologic Effects of PRMS & Testosterone in the Debilitated Elderly Completed NCT00018356 Phase 4 testosterone
4 Myobloc Atrophy Study Completed NCT02052024 Phase 4 Botox;MYOBLOC
5 Early Goal-Directed Nutrition in ICU Patients - EAT-ICU Trial Completed NCT01372176 Phase 4
6 TENS in Optimizer(R) Patients Completed NCT02692690 Phase 4
7 Angiotensin-converting Enzyme (ACE)-Inhibition and Mechanisms of Skeletal Muscle Weakness in Chronic Obstructive Pulmonary Disease (COPD) Completed NCT01014338 Phase 4 Fosinopril
8 Efficacy Study of Local Steroid Injection and Wrist Splinting for Carpal Tunnel Syndrome Completed NCT02140632 Phase 4
9 Sleep and Training Aspects in Dialysis Fatigue - Exercise Intervention Completed NCT01721551 Phase 4
10 Study of The Effects of Testosterone in Frail Elderly Men Completed NCT00190060 Phase 4 Transdermal testosterone gel (Testogel 1% );Matched transdermal placebo gel
11 Anabolic and Inflammatory Responses to Short-Term Testosterone Administration in Older Men Completed NCT00957801 Phase 4 Testosterone injection;Testosterone gel
12 Trial of Essential Amino Acid Supplementation in Protein Deficient Patients Following Total Knee Arthroplasty Recruiting NCT02926235 Phase 4 Amino Acid
13 Kidney Response to Sepsis Affects Angiogenic Balance and Likelihood of CCI and PICS Recruiting NCT02276066 Phase 4 Iohexol
14 Body Composition Measurements in Chronic Heart Failure Recruiting NCT02686866 Phase 4
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 Nutritional Rehabilitation in Chronic Obstructive Pulmonary Disease (COPD) Patients With Muscle Atrophy Unknown status NCT01344135 Phase 3
21 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
22 Testosterone Administration and ACL Reconstruction in Men Unknown status NCT01595581 Phase 3 Testosterone;Saline
23 Different Efficacy Between Rehabilitation Therapy and Stem Cells Transplantation in Patients With SCI in China Unknown status NCT01873547 Phase 3
24 Effect of Vitamin D3 Supplementation on Muscle Mass in ICU Patient Unknown status NCT02594579 Phase 3 Vitamin D3;Placebo
25 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
26 A Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3 Hydroxyurea
27 Short and Long Term Treatment With 4-AP in Ambulatory SMA Patients Completed NCT01645787 Phase 2, Phase 3 4-aminopyridine;Placebo
28 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
29 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
30 Study to Evaluate the Efficacy of Riluzole in Children and Young Adults With Spinal Muscular Atrophy (SMA) Completed NCT00774423 Phase 2, Phase 3 Riluzole
31 Metabolism and Oxygen Consumption During Functional Electrical Stimulation Cycling in COPD Completed NCT02594722 Phase 3
32 A Long-Term Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00445172 Phase 2, Phase 3 E0302 (mecobalamin)
33 Strength Training in Walking Tolerance in Intermittent Claudication Patients Completed NCT00879697 Phase 3
34 A Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00444613 Phase 2, Phase 3 E0302 (mecobalamin);E0302 (mecobalamin);Placebo
35 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
36 Safety and Effectiveness Study of rhGAA in Patients With Advanced Late-Onset Pompe Disease Receiving Respiratory Support Completed NCT00268944 Phase 3
37 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
38 Effect of Ursolic Acid of Loquat Extract on Function of Muscle Completed NCT02401113 Phase 2, Phase 3
39 Resistance Exercise, Muscle Mass, Strength and Body Composition Completed NCT01766791 Phase 3
40 The Combined Effects of Resistance Training and Flax Oil Supplementation Upon Inflammation in Older Adults Completed NCT00465153 Phase 3
41 Effect of Electromyostimulation on Bone Completed NCT01296776 Phase 3
42 Effectiveness of Creatine Supplementation and Exercise on Muscle and Bone Completed NCT01057680 Phase 3
43 Evaluation of an Oral Nutritional Supplement Containing AN777 Completed NCT01191125 Phase 3
44 Valproate and Levocarnitine in Children With Spinal Muscular Atrophy Recruiting NCT01671384 Phase 3 Valproate, Levocarnitine;Placebo
45 Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 Recruiting NCT03306277 Phase 3
46 Systemic Hormones and Muscle Protein Synthesis Recruiting NCT03054168 Phase 3 Sustanon 250;Zoladex
47 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
48 Mechanisms of Improved Wound Healing and Protein Synthesis of Insulin and Metformin Recruiting NCT01666665 Phase 2, Phase 3 Metformin;Sugar pill
49 Screening of Obstructive Sleep Apnea Syndrome in Residents of a Unit of Long-term Care Under Mixed Food Recruiting NCT02839499 Phase 3
50 Growth Hormone Therapy for Muscle Regeneration in Severely Burned Patients Recruiting NCT03038594 Phase 2, Phase 3 Somatropin;0.09% Saline Solution

Search NIH Clinical Center for Muscular Atrophy

Cochrane evidence based reviews: muscular atrophy

Genetic Tests for Muscular Atrophy

Anatomical Context for Muscular Atrophy

MalaCards organs/tissues related to Muscular Atrophy:

39
Skeletal Muscle, Bone, Spinal Cord, Testes, Lung, Liver, Kidney

Publications for Muscular Atrophy

Articles related to Muscular Atrophy:

(show top 50) (show all 1442)
id Title Authors Year
1
Dawn of a new therapeutic era for spinal muscular atrophy. ( 27939062 )
2017
2
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. ( 28251733 )
2017
3
Retraction Statement. Paper 'Low-Dose Vitamin D Prevents Muscular Atrophy and Reduces Falls and Hip Fractures in Women after Stroke: A Randomized Controlled Trial' by Sato et al. Cerebrovasc Dis 2005;20:187-192. ( 28942438 )
2017
4
An Evaluation of a Continuing Education Program for Family Caregivers of Ventilator-Dependent Children with Spinal Muscular Atrophy (SMA). ( 28468263 )
2017
5
Nusinersen: antisense oligonucleotide to increase SMN protein production in spinal muscular atrophy. ( 28799578 )
2017
6
Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family. ( 28637197 )
2017
7
Therapeutic strategies for spinal muscular atrophy: SMN and beyond. ( 28768735 )
2017
8
Peripheral nerve pathology at fixed stage in spinal muscular atrophy with respiratory distress type 1. ( 28899595 )
2017
9
Atrial Septal Defect, Neuromuscular Junction and Skeletal Abnormalities in Spinal Muscular Atrophy Type III. ( 28937047 )
2017
10
Oligodendrocyte development and CNS myelination are unaffected in a mouse model of severe spinal muscular atrophy. ( 28069797 )
2017
11
Market access of Spinraza (Nusinersen) for spinal muscular atrophy: intellectual property rights, pricing, value and coverage considerations. ( 28880019 )
2017
12
Raise the Roof: Boosting the Efficacy of a Spinal Muscular Atrophy Therapy. ( 28056344 )
2017
13
Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial. ( 28460889 )
2017
14
ERK and ROCK functionally interact in a signaling network that is compensationally upregulated in Spinal Muscular Atrophy. ( 28916199 )
2017
15
SMN deficiency negatively impacts red pulp macrophages and spleen development in mouse models of Spinal Muscular Atrophy. ( 28062667 )
2017
16
TIA1 is a gender-specific disease modifier of a mild mouse model of spinal muscular atrophy. ( 28775379 )
2017
17
Design of Potent mRNA Decapping Scavenger Enzyme (DcpS) Inhibitors with Improved Physicochemical Properties To Investigate the Mechanism of Therapeutic Benefit in Spinal Muscular Atrophy (SMA). ( 28257199 )
2017
18
Newborn screening for spinal muscular atrophy: The views of affected families and adults. ( 28374951 )
2017
19
Decreased microRNA levels lead to deleterious increases in neuronal M2 muscarinic receptors in Spinal Muscular Atrophy models. ( 28463115 )
2017
20
Discovery of a Small Molecule Probe That Post-Translationally Stabilizes the Survival Motor Neuron Protein for the Treatment of Spinal Muscular Atrophy. ( 28481536 )
2017
21
A qualitative study of perceptions of meaningful change in spinal muscular atrophy. ( 28376816 )
2017
22
Evaluation and comparison of three assays for molecular detection of spinal muscular atrophy. ( 27754957 )
2017
23
Correction: Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III. ( 28384258 )
2017
24
Deregulation of ZPR1 causes respiratory failure in spinal muscular atrophy. ( 28811488 )
2017
25
Effects of Astroglia on Motor Neurons in Spinal Muscular Atrophy. ( 28878096 )
2017
26
Amphiphilic lipopeptide significantly enhances uptake of charge-neutral splice switching morpholino oligonucleotide in spinal muscular atrophy patient-derived fibroblasts. ( 28864392 )
2017
27
Spinal muscular atrophy: A changing phenotype beyond the clinical trials. ( 28757001 )
2017
28
Reduced sensory synaptic excitation impairs motor neuron function via Kv2.1 in spinal muscular atrophy. ( 28504671 )
2017
29
Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients. ( 28087734 )
2017
30
Transcript levels of plastin 3 and neuritin 1 modifier genes in spinal muscular atrophy siblings. ( 27279027 )
2017
31
Linking Amyotrophic Lateral Sclerosis and Spinal Muscular Atrophy through RNA-transcriptome homeostasis: a genomics perspective. ( 28054357 )
2017
32
Motor neuronal repletion of the NMJ organizer, Agrin, modulates the severity of the spinal muscular atrophy disease phenotype in model mice. ( 28379354 )
2017
33
Combination of valproic acid and morpholino splice-switching oligonucleotide produces improved outcomes in spinal muscular atrophy patient-derived fibroblasts. ( 28389270 )
2017
34
Use of sugammadex in a patient with progressive muscular atrophy and in a patient with amyotrophic lateral sclerosis: Case report. ( 28591053 )
2017
35
A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy. ( 28460014 )
2017
36
Clinical Characteristics of Spinal Muscular Atrophy in Korea Confirmed by Genetic Analysis. ( 28792153 )
2017
37
Long-term treatment with leuprorelin for spinal and bulbar muscular atrophy. ( 28794153 )
2017
38
Previously Undiagnosed Spinal and Bulbar Muscular Atrophy as a Cause of Airway Obstruction after Robot-Assisted Laparoscopic Prostatectomy. ( 28798877 )
2017
39
Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA. ( 28522225 )
2017
40
Nusinersen: The First Option Beyond Supportive Care for Spinal Muscular Atrophy. ( 28755059 )
2017
41
Symptom management and psychological support for families are the cornerstones of end-of-life care for children with spinal muscular atrophy type 1. ( 28941298 )
2017
42
Clinical trial of L-carnitine and valproic acid in spinal muscular atrophy type I. ( 28833236 )
2017
43
Discovery of a Novel Class of Survival Motor Neuron 2 Splicing Modifiers for the Treatment of Spinal Muscular Atrophy. ( 28441483 )
2017
44
Outcomes of Primary Posterior Spinal Fusion for Scoliosis in Spinal Muscular Atrophy: Clinical, Radiographic, and Pulmonary Outcomes and Complications. ( 28777284 )
2017
45
How the discovery of ISS-N1 led to the first medical therapy for spinal muscular atrophy. ( 28485722 )
2017
46
The Antisense Transcript SMN-AS1 Regulates SMN Expression and Is a Novel Therapeutic Target for Spinal Muscular Atrophy. ( 28017471 )
2017
47
Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy. ( 28426667 )
2017
48
Another milestone in childhood spinal muscular atrophy. ( 28460890 )
2017
49
Longitudinal characterization of biomarkers for spinal muscular atrophy. ( 28491897 )
2017
50
ISS-N1 makes the First FDA-approved Drug for Spinal Muscular Atrophy. ( 28400976 )
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:

id Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.95 GARS IGHMBP2 PLEKHG5 SMN1 SMN2 TRPV4
2 neuron projection GO:0043005 9.73 ATP7A NAIP SMN1 SMN2
3 growth cone GO:0030426 9.63 IGHMBP2 TRPV4 ZPR1
4 Cajal body GO:0015030 9.56 SMN1 SMN2 SMNDC1 ZPR1
5 perikaryon GO:0043204 9.55 ATP7A NAIP SMN1 SMN2 ZPR1
6 SMN-Sm protein complex GO:0034719 9.5 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 cytoplasm GO:0005737 10.27 AR ATP7A BICD2 DDX20 DYNC1H1 GARS

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

id Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.65 DDX20 SMN1 SMN2 SMNDC1 ZPR1
2 RNA splicing GO:0008380 9.55 DDX20 SMN1 SMN2 SMNDC1 ZPR1
3 DNA-templated transcription, termination GO:0006353 9.32 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:

id Name GO ID Score Top Affiliating Genes
1 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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