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

MCID: MSC003 MIFTS: 55	Muscular Atrophy Categories: Bone diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Muscular Atrophy

MalaCards integrated aliases for Muscular Atrophy:

Name: Muscular Atrophy ¹² ⁴⁴ ¹⁵ ⁷³

Muscle Wasting ¹² ¹⁵

Skeletal Muscle Atrophy ⁷³

Wasting - Muscle ¹²

Amyotrophia ¹²

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:767

MeSH ⁴⁴ D009133

NCIt ⁵⁰ C94834

SNOMED-CT ⁶⁸ 88092000

UMLS ⁷³ C0026846 C0541794

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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

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Related Diseases for Muscular Atrophy

Diseases in the Muscular Atrophy family:

Progressive Muscular Atrophy

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

(show top 50) (show all 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:

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Symptoms & Phenotypes for Muscular Atrophy

UMLS symptoms related to Muscular Atrophy:

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

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

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	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

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Drugs & Therapeutics for Muscular Atrophy

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

(show top 50) (show all 332)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Pioglitazone

Approved, Investigational

Phase 4,Not Applicable

111025-46-8

4829

Acetaminophen

Approved

Phase 4,Not Applicable

103-90-2

1983

Testosterone

Approved, Investigational

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

58-22-0

6013

Testosterone undecanoate

Approved, Investigational

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

5949-44-0

Methyltestosterone

Approved

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

58-18-4

6010

Testosterone enanthate

Approved

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

315-37-7

9416

Goserelin

Approved

Phase 4,Phase 3,Not Applicable

65807-02-5

47725 5311128

Acetylcholine

Approved

Phase 4

51-84-3

187

Fosinopril

Approved

Phase 4

98048-97-6

55891

Prednisolone phosphate

Approved, Vet_approved

Phase 4

302-25-0

Prednisolone

Approved, Vet_approved

Phase 4

50-24-8

5755

Methylprednisolone hemisuccinate

Approved

Phase 4

2921-57-5

Methylprednisolone

Approved, Vet_approved

Phase 4

83-43-2

6741

Allopurinol

Approved

Phase 4

315-30-0

2094

Rocuronium

Approved

Phase 4,Not Applicable

119302-91-9, 143558-00-3

441290

Mannitol

Approved, Investigational

Phase 4

69-65-8

453 6251

Empagliflozin

Approved

Phase 4

864070-44-0

Vitamin D3

Approved, Nutraceutical

Phase 4,Phase 3,Phase 1,Not Applicable

67-97-0

5280795 6221

Ergocalciferol

Approved, Nutraceutical

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

50-14-6

5280793

Vitamin D

Approved, Nutraceutical, Vet_approved

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

1406-16-2

Vitamin A

Approved, Nutraceutical, Vet_approved

Phase 4

11103-57-4, 68-26-8

445354

Prednisolone hemisuccinate

Experimental

Phase 4

2920-86-7

insulin

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

Insulin, Globin Zinc

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

Hypoglycemic Agents

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1

Peripheral Nervous System Agents

Phase 4,Phase 3,Phase 2,Not Applicable

Antipyretics

Phase 4,Not Applicable

Analgesics

Phase 4,Phase 3,Phase 2,Not Applicable

Analgesics, Non-Narcotic

Phase 4,Phase 3,Phase 2,Not Applicable

Antineoplastic Agents, Hormonal

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Cholinergic Agents

Phase 4,Phase 2

Neurotransmitter Agents

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Testosterone 17 beta-cypionate

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Hormones

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

Androgens

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Hormone Antagonists

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

Anabolic Agents

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Hormones, Hormone Substitutes, and Hormone Antagonists

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

glucocorticoids

Phase 4,Phase 2,Phase 3

Neuroprotective Agents

Phase 4,Phase 2,Phase 3

Anti-Inflammatory Agents

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Protective Agents

Phase 4,Phase 2,Phase 3,Not Applicable

Antirheumatic Agents

Phase 4,Phase 3,Phase 2,Not Applicable

Bromides

Phase 4,Phase 2

Anticonvulsants

Phase 4,Phase 3,Phase 2,Phase 1

leucine

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

Vitamin D2

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Ergocalciferols

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Trace Elements

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

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

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Genetic Tests for Muscular Atrophy

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Anatomical Context for Muscular Atrophy

MalaCards organs/tissues related to Muscular Atrophy:

⁴¹

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

Sources

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 )	Smith G...Albayram MS	2019
2	CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis. ( 29961886 )	Janzen E....Wirth B.	2018
3	Mathematical Disease Progression Modeling in Type 2/3 Spinal Muscular Atrophy. ( 29938801 )	Jacqmin P....Sanwald Ducray P.	2018
4	Commentary on &quot;Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function&quot;. ( 29924071 )	Nelson L....Valle M.	2018
5	Advances in spinal muscular atrophy therapeutics. ( 29434670 )	Parente V....Corti S.	2018
6	Weight-Loss Cognitive-Behavioural Treatment and Essential Amino Acid Supplementation in a Patient with Spinal Muscular Atrophy and Obesity. ( 29887892 )	El Ghoch M....Dalle Grave R.	2018
7	c.835-5T&gt;G Variant in SMN1 Gene Causes Transcript Exclusion of Exon 7 and Spinal Muscular Atrophy. ( 29799103 )	Wu S....Chen W.J.	2018
8	Spinobulbar muscular atrophy combined with atypical hereditary neuropathy with liability to pressure palsy. ( 29137918 )	Choi K....Sung J.J.	2018
9	X-linked spinal and bulbar muscular atrophy (Kennedy's disease): the first case described in the Brazilian Amazon. ( 29898093 )	Alves C.N....Fujihara S.	2018
10	Ambulatory function in spinal muscular atrophy: Age-related patterns of progression. ( 29944707 )	Montes J....Mercuri E.	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 )	de Wit J....SchrAPder C.D.	2018
12	Therapy for Spinal Muscular Atrophy. ( 29394306 )	Whittaker H.T....Michell-Robinson M.A.	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 )	Archibald A.D....Amor D.J.	2018
14	Effects of Arm Cycling Exercise in Spinal Muscular Atrophy Type II Patients: A Pilot Study. ( 29327642 )	Bora G....Erdem-Yurter H.	2018
15	RNP Assembly Defects in Spinal Muscular Atrophy. ( 29916019 )	Price P.L....Rossoll W.	2018
16	The SMN1 common variant c.22 dupA in Chinese patients causes spinal muscular atrophy by nonsense-mediated mRNA decay in humans. ( 29080838 )	Bai J....Song F.	2018
17	Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. ( 29443664 )	Mercuri E....Finkel R.S.	2018
18	Therapy for Spinal Muscular Atrophy. ( 29394473 )	Mendell J.R.	2018
19	Cost-effectiveness of Nusinersen for Spinal Muscular Atrophy-Reply. ( 29800980 )	Prasad V.	2018
20	Severe ketoacidosis in a patient with spinal muscular atrophy. ( 29978296 )	Lakkis B....Koubar S.H.	2018
21	Limited maximal mouth opening in patients with spinal muscular atrophy complicates endotracheal intubation: An observational study. ( 29975223 )	Wijngaarde C.A....van der Pol W.L.	2018
22	The developmental and genetic basis of 'clubfoot' in the peroneal muscular atrophy mutant mouse. ( 29439133 )	Collinson J.M....Vargesson N.	2018
23	Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy. ( 29380287 )	Shorrock H.K....Groen E.J.N.	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 )	Zhang X....Fu Q.	2018
26	X-Linked Spinal and Bulbar Muscular Atrophy: From Clinical Genetic Features and Molecular Pathology to Mechanisms Underlying Disease Toxicity. ( 29427100 )	Cortes C.J....La Spada A.R.	2018
27	Mechanism of Splicing Regulation of Spinal Muscular Atrophy Genes. ( 29916015 )	Singh R.N....Singh N.N.	2018
28	Position Statement: Sharing of Clinical Research Data in Spinal Muscular Atrophy to Accelerate Research and Improve Outcomes for Patients. ( 29865093 )	LochmA1ller H....Wilson P.	2018
29	Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. ( 29967434 )	GonAsalves I.D.C.G....Kye M.J.	2018
30	Increasing Agrin Function Antagonizes Muscle Atrophy and Motor Impairment in Spinal Muscular Atrophy. ( 29440993 )	Boido M....Vercelli A.	2018
31	Vibration-Assisted Home Training Program for Children With Spinal Muscular Atrophy. ( 29977975 )	Stark C....Schoenau E.	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 )	Debevec T...Rittweger J	2018
48	Influenza A Virus Infection Induces Muscle Wasting via IL-6 Regulation of the E3 Ubiquitin Ligase Atrogin-1. ( 30530483 )	Radigan KA...Budinger GRS	2018
49	Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy. ( 30511354 )	Matsubara T...Izumi Y	2018
50	Multi-Study Proteomic and Bioinformatic Identification of Molecular Overlap between Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA). ( 30518112 )	?olti? D...Fuller HR	2018

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Genes for Muscular Atrophy

Genes related to Muscular Atrophy (1 elite genes):

(show all 26)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ATP2B3	ATPase Plasma Membrane Ca2+ Transporting 3	Protein Coding	403.49	Pathogenic ⁶ DISEASES inferred ¹⁵
2	SMN1	Survival Of Motor Neuron 1, Telomeric	Protein Coding	70.67	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)
3	SMN2	Survival Of Motor Neuron 2, Centromeric	Protein Coding	58.93	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
4	AR	Androgen Receptor	Protein Coding	53.12	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)
5	ATP7A	ATPase Copper Transporting Alpha	Protein Coding	51.52	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
6	ASAH1	N-Acylsphingosine Amidohydrolase 1	Protein Coding	50.33	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
7	TRIP4	Thyroid Hormone Receptor Interactor 4	Protein Coding	49.91	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
8	IGHMBP2	Immunoglobulin Mu DNA Binding Protein 2	Protein Coding	46.76	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
9	NAIP	NLR Family Apoptosis Inhibitory Protein	Protein Coding	46.4	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries Functions (show sections)
10	BICD2	BICD Cargo Adaptor 2	Protein Coding	45.58	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
11	TRPV4	Transient Receptor Potential Cation Channel Subfamily V Member 4	Protein Coding	44.85	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
12	GARS	Glycyl-TRNA Synthetase	Protein Coding	44.17	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
13	DYNC1H1	Dynein Cytoplasmic 1 Heavy Chain 1	Protein Coding	44.02	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
14	VAPB	VAMP Associated Protein B And C	Protein Coding	43.93	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
15	ZPR1	ZPR1 Zinc Finger	Protein Coding	41.66	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries Expressions (show sections)
16	UBA1	Ubiquitin Like Modifier Activating Enzyme 1	Protein Coding	41.41	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
17	DNAJB2	DnaJ Heat Shock Protein Family (Hsp40) Member B2	Protein Coding	40.8	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
18	PLEKHG5	Pleckstrin Homology And RhoGEF Domain Containing G5	Protein Coding	39.74	GeneCards inferred via : Disorders Summaries Variants (show sections)
19	ASCC1	Activating Signal Cointegrator 1 Complex Subunit 1	Protein Coding	39.55	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
20	SERF1A	Small EDRK-Rich Factor 1A	Protein Coding	31.78	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Gene name Summaries (show sections)
21	LOC109504725	Androgen Receptor Repeat Instability Region	Uncategorized	26.78	GeneCards inferred via : Publications Gene name Summaries (show sections)
22	DDX20	DEAD-Box Helicase 20	Protein Coding	23.3	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
23	GTF2H2	General Transcription Factor IIH Subunit 2	Protein Coding	23.07	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
24	CHCHD10	Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 10	Protein Coding	21.99	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
25	VRK1	VRK Serine/Threonine Kinase 1	Protein Coding	21.36	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
26	SMNDC1	Survival Motor Neuron Domain Containing 1	Protein Coding	21.13	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)

Sources

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

Sources

Expression for Muscular Atrophy

Search GEO for disease gene expression data for Muscular Atrophy.

Sources

Pathways for Muscular Atrophy

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

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

Sources for Muscular Atrophy

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia