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MCID: MSC003
MIFTS: 54

Muscular Atrophy

Categories: Muscle diseases, Bone diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Muscular Atrophy

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MalaCards integrated aliases for Muscular Atrophy:

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

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Muscle diseases Bone diseases Neuronal diseases
See all MalaCards categories (disease lists)


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Summaries for Muscular Atrophy

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MalaCards based summary : Muscular Atrophy, also known as skeletal muscle atrophy, is related to spinal muscular atrophy, type iv and spinal muscular atrophy, type ii, 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), 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, bone and spinal cord, and related phenotypes are behavior/neurological and muscle

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Related Diseases for Muscular Atrophy

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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 252)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, type iv 34.9 SMN1 SMN2 VAPB
2 spinal muscular atrophy, type ii 34.8 NAIP SMN1 SMN2
3 spinal muscular atrophy, type iii 34.7 NAIP SMN1 SMN2
4 progressive muscular atrophy 34.7 SMN1 SMN2 TRPV4
5 spinal muscular atrophy, type i 34.6 IGHMBP2 NAIP SMN1 SMN2
6 survival motor neuron spinal muscular atrophy 34.6 NAIP SMN1 SMN2
7 spinal muscular atrophy with lower extremity predominance 34.4 BICD2 DYNC1H1
8 juvenile spinal muscular atrophy 34.4 NAIP SMN1 SMN2 VAPB
9 proximal spinal muscular atrophy 34.3 BICD2 NAIP SMN1 SMN2
10 prenatal-onset spinal muscular atrophy with congenital bone fractures 33.2 ASCC1 TRIP4
11 distal hereditary motor neuropathies 32.8 GARS IGHMBP2
12 motor neuron disease 32.4 AR DYNC1H1 NAIP SMN1 SMN2 VAPB
13 neuromuscular disease 32.3 NAIP SMN1 SMN2 TRPV4
14 spinal disease 32.0 NAIP SMN1 SMN2
15 charcot-marie-tooth disease 31.9 DNAJB2 DYNC1H1 GARS IGHMBP2 PLEKHG5 TRPV4
16 amyotrophic lateral sclerosis 1 31.0 DNAJB2 NAIP SMN1 SMN2 VAPB
17 tooth disease 30.3 DYNC1H1 GARS IGHMBP2 PLEKHG5 TRPV4
18 congenital contractures 29.5 ASCC1 TRIP4 UBA1
19 spinal muscular atrophy 27.9 AR ASAH1 ASCC1 ATP7A BICD2 DNAJB2
20 spinal and bulbar muscular atrophy, x-linked 1 12.7
21 spinal muscular atrophy, distal, autosomal recessive, 1 12.6
22 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 12.6
23 spinal muscular atrophy, x-linked 2 12.5
24 scapuloperoneal spinal muscular atrophy 12.5
25 spinal muscular atrophy, lower extremity-predominant, 2, autosomal dominant 12.5
26 spinal muscular atrophy with progressive myoclonic epilepsy 12.5
27 spinal muscular atrophy, late-onset, finkel type 12.4
28 spinal muscular atrophy, distal, autosomal recessive, 2 12.4
29 spinal muscular atrophy, distal, x-linked 3 12.4
30 spinal muscular atrophy, distal, autosomal recessive, 4 12.4
31 spinal muscular atrophy, jokela type 12.3
32 spinal muscular atrophy, distal, autosomal recessive, 5 12.3
33 spinal muscular atrophy, distal, autosomal recessive, 3 12.3
34 spinal muscular atrophy, type i, with congenital bone fractures 12.2
35 spinal muscular atrophy with congenital bone fractures 2 12.2
36 pelvic muscle wasting 12.2
37 spinal muscular atrophy with respiratory distress type 2 12.1
38 spastic paraplegia and distal muscle wasting caused by neuropathy target esterase gene mutation 12.1
39 spinal muscular atrophy, segmental 12.1
40 autosomal dominant childhood-onset proximal spinal muscular atrophy 12.1
41 spastic paraplegia 20, autosomal recessive 12.0
42 spinal muscular atrophy-dandy-walker malformation-cataracts syndrome 12.0
43 amyotrophy, monomelic 12.0
44 muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus 12.0
45 spinal muscular atrophy, ryukyuan type 12.0
46 spinal muscular atrophy, facioscapulohumeral type 11.9
47 adult progressive spinal muscular atrophy aran duchenne type 11.9
48 muscular atrophy, malignant neurogenic 11.9
49 spinal muscular atrophy with mental retardation 11.9
50 spinal muscular atrophy with microcephaly and mental subnormality 11.9

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



Diseases related to Muscular Atrophy
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Symptoms & Phenotypes for Muscular Atrophy

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UMLS symptoms related to Muscular Atrophy:


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

MGI Mouse Phenotypes related to Muscular Atrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 VAPB AR ASAH1 ATP7A BICD2 DYNC1H1
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
Sources

Drugs & Therapeutics for Muscular Atrophy

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

(show top 50) (show all 317)
# 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 undecanoate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 5949-44-0
4
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 58-22-0 6013
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
Allopurinol Approved Phase 4 315-30-0 2094
8
Acetylcholine Approved Phase 4 51-84-3 187
9
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
10
Goserelin Approved Phase 4,Phase 3 65807-02-5 47725 5311128
11
Fosinopril Approved Phase 4 98048-97-6 55891
12
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
13
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1406-16-2
14
Vitamin D3 Approved, Nutraceutical Phase 4,Phase 3,Phase 1,Not Applicable 67-97-0 6221 5280795
15
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-14-6 5280793
16
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
17 insulin Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
18 Analgesics Phase 4,Phase 3,Phase 2,Not Applicable
19 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
20 Cholinergic Agents Phase 4,Phase 2
21 Anabolic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
22 Neuroprotective Agents Phase 4,Phase 2,Phase 3
23 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
24 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Not Applicable
25 Testosterone 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
26 Androgens Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
27 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
28 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
29 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
30 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
31 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
32 Ergocalciferols Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
33 Hypoglycemic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
34 Vitamins Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
35 Insulin, Globin Zinc Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
36 Protective Agents Phase 4,Phase 2,Phase 3
37 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
38 Antipyretics Phase 4,Not Applicable
39 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Not Applicable
40 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
41 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
42 Prednisolone acetate Phase 4
43 glucocorticoids Phase 4,Phase 2,Phase 3
44
protease inhibitors Phase 4
45 abobotulinumtoxinA Phase 4
46 Methylprednisolone acetate Phase 4
47 Methylprednisolone Hemisuccinate Phase 4
48 Retinol palmitate Phase 4
49 rimabotulinumtoxinB Phase 4
50 Gastrointestinal Agents Phase 4,Not Applicable

Interventional clinical trials:

(show top 50) (show all 709)
# 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 Physiological and Psychological Effects of Testosterone During Severe Energy Deficit and Recovery Completed NCT02734238 Phase 4 Sesame Oil;testosterone enanthate
17 Tape Versus Semirigid Versus Lace-up Ankle Support in the Treatment of Acute Lateral Ankle Ligament Injury. Completed NCT01126242 Phase 4
18 Trial of Essential Amino Acid Supplementation in Protein Deficient Patients Following Total Knee Arthroplasty Recruiting NCT02926235 Phase 4 Amino Acid
19 Kidney Response to Sepsis Affects Angiogenic Balance and Likelihood of CCI and PICS Recruiting NCT02276066 Phase 4 Iohexol
20 Mediterranean Diet, Circuit Resistance Training, Empagliflozin in Elderly With Type 2 Diabetes: a Study Protocol Recruiting NCT03560375 Phase 4 Empagliflozin 10 MG
21 Effects of Supplementation of Vitamin D in Patients With Crohn`s Disease Enrolling by invitation NCT02704624 Phase 4
22 LPD+α-ketoacids on Autophagy and Improving Muscle Wasting in CKD Not yet recruiting NCT02568020 Phase 4 keto-amino acids
23 TOM: Testosterone in Older Men With Sarcopenia Terminated NCT00240981 Phase 4 Topical testosterone gel 1% (active formulation);Topical gel (placebo formulation)
24 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
25 Valproate and Levocarnitine in Children With Spinal Muscular Atrophy Unknown status NCT01671384 Phase 3 Valproate, Levocarnitine;Placebo
26 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
27 Testosterone Administration and ACL Reconstruction in Men Unknown status NCT01595581 Phase 3 Testosterone;Saline
28 Effect of Vitamin D3 Supplementation on Muscle Mass in ICU Patient Unknown status NCT02594579 Phase 3 Vitamin D3;Placebo
29 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
30 A Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3 Hydroxyurea
31 Short and Long Term Treatment With 4-AP in Ambulatory SMA Patients Completed NCT01645787 Phase 2, Phase 3 4-aminopyridine;Placebo
32 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
33 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
34 Study to Evaluate the Efficacy of Riluzole in Children and Young Adults With Spinal Muscular Atrophy (SMA) Completed NCT00774423 Phase 2, Phase 3 Riluzole
35 Metabolism and Oxygen Consumption During Functional Electrical Stimulation Cycling in COPD Completed NCT02594722 Phase 3
36 A Long-Term Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00445172 Phase 2, Phase 3 E0302 (mecobalamin)
37 Strength Training in Walking Tolerance in Intermittent Claudication Patients Completed NCT00879697 Phase 3
38 Different Efficacy Between Rehabilitation Therapy and Stem Cells Transplantation in Patients With SCI in China Completed NCT01873547 Phase 3
39 A Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00444613 Phase 2, Phase 3 E0302 (mecobalamin);E0302 (mecobalamin);Placebo
40 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
41 Safety and Effectiveness Study of rhGAA in Patients With Advanced Late-Onset Pompe Disease Receiving Respiratory Support Completed NCT00268944 Phase 3
42 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
43 Effect of Ursolic Acid of Loquat Extract on Function of Muscle Completed NCT02401113 Phase 2, Phase 3
44 Resistance Exercise, Muscle Mass, Strength and Body Composition Completed NCT01766791 Phase 3
45 Effect of Electromyostimulation on Bone Completed NCT01296776 Phase 3
46 Evaluation of an Oral Nutritional Supplement Containing AN777 Completed NCT01191125 Phase 3
47 The Combined Effects of Resistance Training and Flax Oil Supplementation Upon Inflammation in Older Adults Completed NCT00465153 Phase 3
48 Effectiveness of Creatine Supplementation and Exercise on Muscle and Bone Completed NCT01057680 Phase 3
49 Investigate Safety, Tolerability, PK, PD and Efficacy of RO7034067 in Infants With Type1 Spinal Muscular Atrophy Recruiting NCT02913482 Phase 2, Phase 3 RO7034067
50 Pre-Symptomatic Study of Intravenous AVXS-101 in Spinal Muscular Atrophy (SMA) for Patients With Multiple Copies of SMN2 Recruiting NCT03505099 Phase 3

Search NIH Clinical Center for Muscular Atrophy

Cochrane evidence based reviews: muscular atrophy

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Genetic Tests for Muscular Atrophy

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Anatomical Context for Muscular Atrophy

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MalaCards organs/tissues related to Muscular Atrophy:

41
Skeletal Muscle, Bone, Spinal Cord, Testes, Liver, Lung, Kidney
Sources

Publications for Muscular Atrophy

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Articles related to Muscular Atrophy:

(show top 50) (show all 1569)
# Title Authors Year
1
CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis. ( 29961886 )
2018
2
Mathematical Disease Progression Modeling in Type 2/3 Spinal Muscular Atrophy. ( 29938801 )
2018
3
Commentary on "Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function". ( 29924071 )
2018
4
Advances in spinal muscular atrophy therapeutics. ( 29434670 )
2018
5
Weight-Loss Cognitive-Behavioural Treatment and Essential Amino Acid Supplementation in a Patient with Spinal Muscular Atrophy and Obesity. ( 29887892 )
2018
6
c.835-5T>G Variant in SMN1 Gene Causes Transcript Exclusion of Exon 7 and Spinal Muscular Atrophy. ( 29799103 )
2018
7
Spinobulbar muscular atrophy combined with atypical hereditary neuropathy with liability to pressure palsy. ( 29137918 )
2018
8
X-linked spinal and bulbar muscular atrophy (Kennedy's disease): the first case described in the Brazilian Amazon. ( 29898093 )
2018
9
Ambulatory function in spinal muscular atrophy: Age-related patterns of progression. ( 29944707 )
2018
10
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
11
Therapy for Spinal Muscular Atrophy. ( 29394306 )
2018
12
CORRIGENDUM: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. ( 29388943 )
2018
13
Effects of Arm Cycling Exercise in Spinal Muscular Atrophy Type II Patients: A Pilot Study. ( 29327642 )
2018
14
RNP Assembly Defects in Spinal Muscular Atrophy. ( 29916019 )
2018
15
The SMN1 common variant c.22 dupA in Chinese patients causes spinal muscular atrophy by nonsense-mediated mRNA decay in humans. ( 29080838 )
2018
16
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. ( 29443664 )
2018
17
Therapy for Spinal Muscular Atrophy. ( 29394473 )
2018
18
Cost-effectiveness of Nusinersen for Spinal Muscular Atrophy-Reply. ( 29800980 )
2018
19
Severe ketoacidosis in a patient with spinal muscular atrophy. ( 29978296 )
2018
20
Limited maximal mouth opening in patients with spinal muscular atrophy complicates endotracheal intubation: An observational study. ( 29975223 )
2018
21
The developmental and genetic basis of 'clubfoot' in the peroneal muscular atrophy mutant mouse. ( 29439133 )
2018
22
Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy. ( 29380287 )
2018
23
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
24
Accurate diagnosis of spinal muscular atrophy and 22q11.2 deletion syndrome using limited deoxynucleotide triphosphates and high-resolution melting. ( 29925309 )
2018
25
X-Linked Spinal and Bulbar Muscular Atrophy: From Clinical Genetic Features and Molecular Pathology to Mechanisms Underlying Disease Toxicity. ( 29427100 )
2018
26
Mechanism of Splicing Regulation of Spinal Muscular Atrophy Genes. ( 29916015 )
2018
27
Position Statement: Sharing of Clinical Research Data in Spinal Muscular Atrophy to Accelerate Research and Improve Outcomes for Patients. ( 29865093 )
2018
28
Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. ( 29967434 )
2018
29
Increasing Agrin Function Antagonizes Muscle Atrophy and Motor Impairment in Spinal Muscular Atrophy. ( 29440993 )
2018
30
Vibration-Assisted Home Training Program for Children With Spinal Muscular Atrophy. ( 29977975 )
2018
31
Hirayama Disease (Non-progressive Juvenile Spinal Muscular Atrophy) ( 29763088 )
2018
32
Type 0 Spinal Muscular Atrophy in rare association with congenital Contracture and generalized osteopenia. ( 29379570 )
2018
33
Autophagy inhibition: a new therapeutic target in spinal muscular atrophy. ( 29863009 )
2018
34
Motor neuron disease: A prospective natural history study of type 1 spinal muscular atrophy. ( 29348544 )
2018
35
Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function. ( 29924070 )
2018
36
Modelling motor neuron disease in fruit flies: Lessons from spinal muscular atrophy. ( 29649521 )
2018
37
Increase of HCN current in the aberrant excitability of spinal muscular atrophy. ( 29394509 )
2018
38
Cost-effectiveness of Nusinersen for Spinal Muscular Atrophy. ( 29801053 )
2018
39
Impaired Local Translation of I^-actin mRNA in Ighmbp2-Deficient Motoneurons: Implications for Spinal Muscular Atrophy with respiratory Distress (SMARD1). ( 29928949 )
2018
40
Advances in therapy for spinal muscular atrophy: promises and challenges. ( 29422644 )
2018
41
Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1. ( 29169047 )
2018
42
Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling. ( 29904179 )
2018
43
Tongue Fasciculations and Electrocardiographic Tremors in Spinal Muscular Atrophy. ( 29429566 )
2018
44
Small-molecule flunarizine increases SMN protein in nuclear Cajal bodies and motor function in a mouse model of spinal muscular atrophy. ( 29391529 )
2018
45
New quantitative method for evaluation of motor functions applicable to spinal muscular atrophy. ( 29395660 )
2018
46
Only some patients with bulbar and spinal muscular atrophy may develop cardiac disease. ( 29326874 )
2018
47
A missense mutation in DYNC1H1 gene causing spinal muscular atrophy - Lower extremity, dominant. ( 29306600 )
2018
48
Therapy for Spinal Muscular Atrophy. ( 29385371 )
2018
49
Cardiac pathology in spinal muscular atrophy: a systematic review. ( 28399889 )
2017
50
How the discovery of ISS-N1 led to the first medical therapy for spinal muscular atrophy. ( 28485722 )
2017
Sources

Variations for Muscular Atrophy

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Expression for Muscular Atrophy

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Search GEO for disease gene expression data for Muscular Atrophy.
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Pathways for Muscular Atrophy

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

# Super pathways Score Top Affiliating Genes
1
COPI-independent Golgi-to-ER retrograde traffic 66
10.07 BICD2 DYNC1H1
Sources

GO Terms for Muscular Atrophy

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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 SMN-Sm protein complex GO:0034719 9.4 SMN1 SMN2
5 perikaryon GO:0043204 9.35 ATP7A NAIP SMN1 SMN2 ZPR1
6 Gemini of coiled bodies GO:0097504 9.33 SMN1 SMN2 ZPR1
7 SMN complex GO:0032797 8.92 IGHMBP2 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 9.16 SMN1 SMN2
2 import into nucleus GO:0051170 8.96 SMN1 SMN2
3 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 ATP binding GO:0005524 9.17 ATP7A DYNC1H1 GARS IGHMBP2 NAIP TRPV4
2 dynein light intermediate chain binding GO:0051959 8.96 BICD2 DYNC1H1
Sources

Sources for Muscular Atrophy

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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