MCID: MSC003
MIFTS: 55

Muscular Atrophy

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

Aliases & Classifications for Muscular Atrophy

MalaCards integrated aliases for Muscular Atrophy:

Name: Muscular Atrophy 12 44 15 73
Muscle Wasting 12 15
Skeletal Muscle Atrophy 73
Wasting - Muscle 12
Amyotrophia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:767
MeSH 44 D009133
NCIt 50 C94834
SNOMED-CT 68 88092000

Summaries for Muscular Atrophy

MalaCards based summary : Muscular Atrophy, also known as muscle wasting, is related to spinal muscular atrophy, distal, autosomal recessive, 1 and spinal muscular atrophy, type ii, 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), and among its related pathways/superpathways is COPI-independent Golgi-to-ER retrograde traffic. The drugs Pioglitazone and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, kidney and bone, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Muscular Atrophy

Diseases in the Muscular Atrophy family:

Progressive Muscular Atrophy

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

(show top 50) (show all 359)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, distal, autosomal recessive, 1 34.5 IGHMBP2 SMN1 SMN2
2 spinal muscular atrophy, type ii 34.4 NAIP SMN1 SMN2
3 spinal muscular atrophy, type iv 34.4 SMN1 SMN2 VAPB
4 spinal muscular atrophy, type i 34.3 IGHMBP2 NAIP SMN1 SMN2
5 spinal muscular atrophy, type iii 34.3 NAIP SMN1 SMN2
6 progressive muscular atrophy 34.3 SMN1 SMN2 TRPV4
7 spinal muscular atrophy with lower extremity predominance 34.1 BICD2 DYNC1H1
8 proximal spinal muscular atrophy 34.1 BICD2 NAIP SMN1 SMN2
9 juvenile spinal muscular atrophy 34.0 NAIP SMN1 SMN2 VAPB
10 survival motor neuron spinal muscular atrophy 34.0 IGHMBP2 NAIP SMN1 SMN2
11 prenatal-onset spinal muscular atrophy with congenital bone fractures 33.2 ASCC1 TRIP4
12 motor neuron disease 32.5 AR DYNC1H1 NAIP SMN1 SMN2 VAPB
13 distal hereditary motor neuropathies 32.4 GARS IGHMBP2
14 spinal muscular atrophy 32.4 AR ASAH1 ASCC1 ATP7A BICD2 DNAJB2
15 charcot-marie-tooth disease 32.3 DNAJB2 DYNC1H1 GARS IGHMBP2 PLEKHG5 TRPV4
16 neuromuscular disease 32.1 NAIP SMN1 SMN2 TRPV4
17 spinal disease 31.5 SMN1 SMN2
18 arthrogryposis multiplex congenita, neurogenic type 31.5 SMN1 SMN2
19 amyotrophic lateral sclerosis 1 31.5 DNAJB2 NAIP SMN1 SMN2 VAPB
20 tooth disease 30.4 DYNC1H1 GARS IGHMBP2 PLEKHG5 TRPV4
21 peripheral nervous system disease 30.1 GARS SMN1 SMN2
22 congenital contractures 29.8 ASCC1 TRIP4 UBA1
23 spinal and bulbar muscular atrophy, x-linked 1 12.8
24 spinal muscular atrophy, x-linked 2 12.7
25 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 12.7
26 scapuloperoneal spinal muscular atrophy 12.6
27 spinal muscular atrophy, lower extremity-predominant, 2, autosomal dominant 12.6
28 spinal muscular atrophy with progressive myoclonic epilepsy 12.6
29 spinal muscular atrophy, late-onset, finkel type 12.6
30 spinal muscular atrophy, distal, autosomal recessive, 2 12.6
31 spinal muscular atrophy, distal, x-linked 3 12.5
32 spinal muscular atrophy, distal, autosomal recessive, 4 12.5
33 spinal muscular atrophy, jokela type 12.5
34 spinal muscular atrophy, distal, autosomal recessive, 5 12.5
35 spinal muscular atrophy, distal, autosomal recessive, 3 12.5
36 spinal muscular atrophy, type i, with congenital bone fractures 12.4
37 spinal muscular atrophy with congenital bone fractures 2 12.3
38 pelvic muscle wasting 12.3
39 spinal muscular atrophy, ryukyuan type 12.3
40 spastic paraplegia and distal muscle wasting caused by neuropathy target esterase gene mutation 12.2
41 spinal muscular atrophy with respiratory distress type 2 12.2
42 spinal muscular atrophy, segmental 12.2
43 autosomal dominant childhood-onset proximal spinal muscular atrophy 12.2
44 spastic paraplegia 20, autosomal recessive 12.2
45 spinal muscular atrophy-dandy-walker malformation-cataracts syndrome 12.2
46 amyotrophy, monomelic 12.1
47 muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus 12.1
48 spinal muscular atrophy, facioscapulohumeral type 12.1
49 primrose syndrome 12.1
50 adult progressive spinal muscular atrophy aran duchenne type 12.1

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



Diseases related to Muscular Atrophy

Symptoms & Phenotypes for Muscular Atrophy

UMLS symptoms related to Muscular Atrophy:


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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 10.03 ASAH1 SMN2
2 Decreased viability GR00381-A-1 10.03 ASAH1 UBA1
3 Decreased viability GR00402-S-2 10.03 AR ASAH1 ASCC1 ATP2B3 ATP7A BICD2
4 no effect GR00402-S-1 9.62 AR ASAH1 ASCC1 ATP2B3 ATP7A BICD2

MGI Mouse Phenotypes related to Muscular Atrophy:

46
# 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 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 332)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pioglitazone Approved, Investigational Phase 4,Not Applicable 111025-46-8 4829
2
Acetaminophen Approved Phase 4,Not Applicable 103-90-2 1983
3
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 58-22-0 6013
4
Testosterone undecanoate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 5949-44-0
5
Methyltestosterone Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 58-18-4 6010
6
Testosterone enanthate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 315-37-7 9416
7
Goserelin Approved Phase 4,Phase 3,Not Applicable 65807-02-5 47725 5311128
8
Acetylcholine Approved Phase 4 51-84-3 187
9
Fosinopril Approved Phase 4 98048-97-6 55891
10
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
11
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
12
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
13
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
14
Allopurinol Approved Phase 4 315-30-0 2094
15
Rocuronium Approved Phase 4,Not Applicable 119302-91-9, 143558-00-3 441290
16
Mannitol Approved, Investigational Phase 4 69-65-8 453 6251
17
Empagliflozin Approved Phase 4 864070-44-0
18
Vitamin D3 Approved, Nutraceutical Phase 4,Phase 3,Phase 1,Not Applicable 67-97-0 5280795 6221
19
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-14-6 5280793
20
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1406-16-2
21
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
22
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
23 insulin Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
24 Insulin, Globin Zinc Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
25 Hypoglycemic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
26 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
27 Antipyretics Phase 4,Not Applicable
28 Analgesics Phase 4,Phase 3,Phase 2,Not Applicable
29 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Not Applicable
30 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
31 Cholinergic Agents Phase 4,Phase 2
32 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
33 Testosterone 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
34 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
35 Androgens Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
36 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
37 Anabolic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
38 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
39 glucocorticoids Phase 4,Phase 2,Phase 3
40 Neuroprotective Agents Phase 4,Phase 2,Phase 3
41 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
42 Protective Agents Phase 4,Phase 2,Phase 3,Not Applicable
43 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Not Applicable
44 Bromides Phase 4,Phase 2
45 Anticonvulsants Phase 4,Phase 3,Phase 2,Phase 1
46 leucine Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
47 Vitamin D2 Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
48 Ergocalciferols Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
49 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
50 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 786)
# Name Status NCT ID Phase Drugs
1 Pioglitazone, Body Composition,Insulin Sensitivity and Protein Metabolism in ESRD Unknown status NCT01253928 Phase 4 Pioglitazone
2 Close Kinect Chain Exercise With Kinesio Taping in the Management of Patellofemoral Pain Syndrome Unknown status NCT02241148 Phase 4 Acetaminophen 500mg
3 Body Composition Measurements in Chronic Heart Failure Unknown status NCT02686866 Phase 4
4 Effect of Goserelin (Zoladex®) in Spinal and Bulbar Muscular Atrophy Completed NCT00851461 Phase 4 Goserelin
5 Myobloc Atrophy Study Completed NCT02052024 Phase 4 Botox;MYOBLOC
6 Physiologic Effects of PRMS & Testosterone in the Debilitated Elderly Completed NCT00018356 Phase 4 testosterone
7 Early Goal-Directed Nutrition in ICU Patients - EAT-ICU Trial Completed NCT01372176 Phase 4
8 TENS in Optimizer(R) Patients Completed NCT02692690 Phase 4
9 Angiotensin-converting Enzyme (ACE)-Inhibition and Mechanisms of Skeletal Muscle Weakness in Chronic Obstructive Pulmonary Disease (COPD) Completed NCT01014338 Phase 4 Fosinopril
10 Efficacy Study of Local Steroid Injection and Wrist Splinting for Carpal Tunnel Syndrome Completed NCT02140632 Phase 4
11 Inspiratory Flow Rates Achieved by the COPD Patients Through Breezhaler®, Ellipta® and Handihaler® Inhaler Devices Completed NCT02596009 Phase 4
12 Sleep and Training Aspects in Dialysis Fatigue - Exercise Intervention Completed NCT01721551 Phase 4
13 Allopurinol in Functional Impairment (ALFIE) Trial: 'Improving Muscle Strength' Completed NCT01550107 Phase 4 Allopurinol;Lactose tablets
14 Anabolic and Inflammatory Responses to Short-Term Testosterone Administration in Older Men Completed NCT00957801 Phase 4 Testosterone injection;Testosterone gel;Medrol
15 Study of The Effects of Testosterone in Frail Elderly Men Completed NCT00190060 Phase 4 Transdermal testosterone gel (Testogel 1% );Matched transdermal placebo gel
16 Tape Versus Semirigid Versus Lace-up Ankle Support in the Treatment of Acute Lateral Ankle Ligament Injury. Completed NCT01126242 Phase 4
17 Trial of Essential Amino Acid Supplementation in Protein Deficient Patients Following Total Knee Arthroplasty Recruiting NCT02926235 Phase 4 Amino Acid
18 Partial Neuromuscular Blockade for Lung Protective Mechanical Ventilation Recruiting NCT03646266 Phase 4 Rocuronium Bromide
19 Role of AST120 for Sarcopenia Prevention in Pre-dialysis Chronic Kidney Disease Recruiting NCT03788252 Phase 4 Renamezin
20 Sarcopenia Improves the Muscle Mass and Muscle Strength of Patients With Liver Cirrhosis-Child C Recruiting NCT03633279 Phase 4 Branched chain amino acid;Placebo
21 Mediterranean Diet, Circuit Resistance Training, Empagliflozin in Elderly With Type 2 Diabetes: a Study Protocol Recruiting NCT03560375 Phase 4 Empagliflozin 10 MG
22 Effects of Supplementation of Vitamin D in Patients With Crohn`s Disease Enrolling by invitation NCT02704624 Phase 4
23 LPD+α-ketoacids on Autophagy and Improving Muscle Wasting in CKD Not yet recruiting NCT02568020 Phase 4 keto-amino acids
24 Paracetamol Study in Patients With Low Muscle Mass Not yet recruiting NCT03648658 Phase 4 Paracetamol 120Mg/5mL Oral Suspension
25 TOM: Testosterone in Older Men With Sarcopenia Terminated NCT00240981 Phase 4 Topical testosterone gel 1% (active formulation);Topical gel (placebo formulation)
26 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
27 Valproate and Levocarnitine in Children With Spinal Muscular Atrophy Unknown status NCT01671384 Phase 3 Valproate, Levocarnitine;Placebo
28 Strategies to Reduce Organic Muscle Atrophy in the Intensive Care Unit Unknown status NCT02773771 Phase 2, Phase 3
29 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
30 Testosterone Administration and ACL Reconstruction in Men Unknown status NCT01595581 Phase 3 Testosterone;Saline
31 Assessment of the Effectiveness of Ultrasound-guided Acupuncture in the Management of Carpal Tunnel Syndrome Unknown status NCT02870673 Phase 2, Phase 3 SHINCORT;XYLOCAINE
32 Effect of Vitamin D3 Supplementation on Muscle Mass in ICU Patient Unknown status NCT02594579 Phase 3 Vitamin D3;Placebo
33 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
34 A Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3 Hydroxyurea
35 Short and Long Term Treatment With 4-AP in Ambulatory SMA Patients Completed NCT01645787 Phase 2, Phase 3 4-aminopyridine;Placebo
36 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
37 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
38 Study to Evaluate the Efficacy of Riluzole in Children and Young Adults With Spinal Muscular Atrophy (SMA) Completed NCT00774423 Phase 2, Phase 3 Riluzole
39 Metabolism and Oxygen Consumption During Functional Electrical Stimulation Cycling in COPD Completed NCT02594722 Phase 3
40 A Long-Term Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00445172 Phase 2, Phase 3 E0302 (mecobalamin)
41 Strength Training in Walking Tolerance in Intermittent Claudication Patients Completed NCT00879697 Phase 3
42 Different Efficacy Between Rehabilitation Therapy and Stem Cells Transplantation in Patients With SCI in China Completed NCT01873547 Phase 3
43 A Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00444613 Phase 2, Phase 3 E0302 (mecobalamin);E0302 (mecobalamin);Placebo
44 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
45 Safety and Effectiveness Study of rhGAA in Patients With Advanced Late-Onset Pompe Disease Receiving Respiratory Support Completed NCT00268944 Phase 3
46 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
47 Effect of Ursolic Acid of Loquat Extract on Function of Muscle Completed NCT02401113 Phase 2, Phase 3
48 Resistance Exercise, Muscle Mass, Strength and Body Composition Completed NCT01766791 Phase 3
49 Effect of Electromyostimulation on Bone Completed NCT01296776 Phase 3
50 Evaluation of an Oral Nutritional Supplement Containing AN777 Completed NCT01191125 Phase 3

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:

41
Skeletal Muscle, Kidney, Bone, Lung, Heart, Liver, Testes

Publications for Muscular Atrophy

Articles related to Muscular Atrophy:

(show top 50) (show all 2671)
# Title Authors Year
1
Lumbosacral ventral spinal nerve root atrophy identified on MRI in a case of spinal muscular atrophy type II. ( 30340076 )
2019
2
CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis. ( 29961886 )
2018
3
Mathematical Disease Progression Modeling in Type 2/3 Spinal Muscular Atrophy. ( 29938801 )
2018
4
Commentary on "Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function". ( 29924071 )
2018
5
Advances in spinal muscular atrophy therapeutics. ( 29434670 )
2018
6
Weight-Loss Cognitive-Behavioural Treatment and Essential Amino Acid Supplementation in a Patient with Spinal Muscular Atrophy and Obesity. ( 29887892 )
2018
7
c.835-5T>G Variant in SMN1 Gene Causes Transcript Exclusion of Exon 7 and Spinal Muscular Atrophy. ( 29799103 )
2018
8
Spinobulbar muscular atrophy combined with atypical hereditary neuropathy with liability to pressure palsy. ( 29137918 )
2018
9
X-linked spinal and bulbar muscular atrophy (Kennedy's disease): the first case described in the Brazilian Amazon. ( 29898093 )
2018
10
Ambulatory function in spinal muscular atrophy: Age-related patterns of progression. ( 29944707 )
2018
11
A blended psychosocial support program for partners of patients with amyotrophic lateral sclerosis and progressive muscular atrophy: protocol of a randomized controlled trial. ( 29716660 )
2018
12
Therapy for Spinal Muscular Atrophy. ( 29394306 )
2018
13
CORRIGENDUM: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. ( 29388943 )
2018
14
Effects of Arm Cycling Exercise in Spinal Muscular Atrophy Type II Patients: A Pilot Study. ( 29327642 )
2018
15
RNP Assembly Defects in Spinal Muscular Atrophy. ( 29916019 )
2018
16
The SMN1 common variant c.22 dupA in Chinese patients causes spinal muscular atrophy by nonsense-mediated mRNA decay in humans. ( 29080838 )
2018
17
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. ( 29443664 )
2018
18
Therapy for Spinal Muscular Atrophy. ( 29394473 )
2018
19
Cost-effectiveness of Nusinersen for Spinal Muscular Atrophy-Reply. ( 29800980 )
2018
20
Severe ketoacidosis in a patient with spinal muscular atrophy. ( 29978296 )
2018
21
Limited maximal mouth opening in patients with spinal muscular atrophy complicates endotracheal intubation: An observational study. ( 29975223 )
2018
22
The developmental and genetic basis of 'clubfoot' in the peroneal muscular atrophy mutant mouse. ( 29439133 )
2018
23
Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy. ( 29380287 )
2018
24
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
25
Accurate diagnosis of spinal muscular atrophy and 22q11.2 deletion syndrome using limited deoxynucleotide triphosphates and high-resolution melting. ( 29925309 )
2018
26
X-Linked Spinal and Bulbar Muscular Atrophy: From Clinical Genetic Features and Molecular Pathology to Mechanisms Underlying Disease Toxicity. ( 29427100 )
2018
27
Mechanism of Splicing Regulation of Spinal Muscular Atrophy Genes. ( 29916015 )
2018
28
Position Statement: Sharing of Clinical Research Data in Spinal Muscular Atrophy to Accelerate Research and Improve Outcomes for Patients. ( 29865093 )
2018
29
Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. ( 29967434 )
2018
30
Increasing Agrin Function Antagonizes Muscle Atrophy and Motor Impairment in Spinal Muscular Atrophy. ( 29440993 )
2018
31
Vibration-Assisted Home Training Program for Children With Spinal Muscular Atrophy. ( 29977975 )
2018
32
Hirayama Disease (Non-progressive Juvenile Spinal Muscular Atrophy) ( 29763088 )
2018
33
Type 0 Spinal Muscular Atrophy in rare association with congenital Contracture and generalized osteopenia. ( 29379570 )
2018
34
Autophagy inhibition: a new therapeutic target in spinal muscular atrophy. ( 29863009 )
2018
35
Motor neuron disease: A prospective natural history study of type 1 spinal muscular atrophy. ( 29348544 )
2018
36
Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function. ( 29924070 )
2018
37
Modelling motor neuron disease in fruit flies: Lessons from spinal muscular atrophy. ( 29649521 )
2018
38
Increase of HCN current in the aberrant excitability of spinal muscular atrophy. ( 29394509 )
2018
39
Cost-effectiveness of Nusinersen for Spinal Muscular Atrophy. ( 29801053 )
2018
40
Impaired Local Translation of I^-actin mRNA in Ighmbp2-Deficient Motoneurons: Implications for Spinal Muscular Atrophy with respiratory Distress (SMARD1). ( 29928949 )
2018
41
Advances in therapy for spinal muscular atrophy: promises and challenges. ( 29422644 )
2018
42
Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1. ( 29169047 )
2018
43
Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling. ( 29904179 )
2018
44
Tongue Fasciculations and Electrocardiographic Tremors in Spinal Muscular Atrophy. ( 29429566 )
2018
45
Small-molecule flunarizine increases SMN protein in nuclear Cajal bodies and motor function in a mouse model of spinal muscular atrophy. ( 29391529 )
2018
46
New quantitative method for evaluation of motor functions applicable to spinal muscular atrophy. ( 29395660 )
2018
47
Hypoxia Aggravates Inactivity-Related Muscle Wasting. ( 29867545 )
2018
48
Influenza A Virus Infection Induces Muscle Wasting via IL-6 Regulation of the E3 Ubiquitin Ligase Atrogin-1. ( 30530483 )
2018
49
Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy. ( 30511354 )
2018
50
Multi-Study Proteomic and Bioinformatic Identification of Molecular Overlap between Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA). ( 30518112 )
2018

Variations for Muscular Atrophy

ClinVar genetic disease variations for Muscular Atrophy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP2B3 NM_001001344.2(ATP2B3): c.3594G> T (p.Lys1198Asn) single nucleotide variant Pathogenic rs782596945 GRCh37 Chromosome X, 152845687: 152845687
2 ATP2B3 NM_001001344.2(ATP2B3): c.3594G> T (p.Lys1198Asn) single nucleotide variant Pathogenic rs782596945 GRCh38 Chromosome X, 153580229: 153580229
3 BICD2 NM_001003800.1(BICD2): c.1636_1638delAAT (p.Asn546del) deletion Likely pathogenic rs1064795760 GRCh38 Chromosome 9, 92719007: 92719009
4 BICD2 NM_001003800.1(BICD2): c.1636_1638delAAT (p.Asn546del) deletion Likely pathogenic rs1064795760 GRCh37 Chromosome 9, 95481289: 95481291

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 10.07 BICD2 DYNC1H1

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 9.8 GARS IGHMBP2 PLEKHG5 SMN1 SMN2 TRPV4
2 growth cone GO:0030426 9.61 IGHMBP2 TRPV4 ZPR1
3 Cajal body GO:0015030 9.54 SMN1 SMN2 ZPR1
4 perikaryon GO:0043204 9.46 ATP7A SMN1 SMN2 ZPR1
5 SMN-Sm protein complex GO:0034719 9.4 SMN1 SMN2
6 Gemini of coiled bodies GO:0097504 9.13 SMN1 SMN2 ZPR1
7 SMN complex GO:0032797 8.8 SMN1 SMN2 ZPR1
8 cytoplasm GO:0005737 10.2 AR ATP7A BICD2 DNAJB2 DYNC1H1 GARS

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

# Name GO ID Score Top Affiliating Genes
1 spliceosomal snRNP assembly GO:0000387 9.32 SMN1 SMN2
2 spliceosomal complex assembly GO:0000245 9.26 SMN1 SMN2
3 import into nucleus GO:0051170 9.16 SMN1 SMN2
4 cellular calcium ion homeostasis GO:0006874 9.13 ATP2B3 TRPV4 VAPB
5 DNA-templated transcription, termination GO:0006353 8.62 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 ASCC1 ATP2B3 ATP7A BICD2 DNAJB2
2 ATP binding GO:0005524 9.23 ATP2B3 ATP7A DYNC1H1 GARS IGHMBP2 NAIP
3 dynein light intermediate chain binding GO:0051959 9.16 BICD2 DYNC1H1

Sources for Muscular Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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