IBM
MCID: INC002
MIFTS: 66

Inclusion Body Myositis (IBM)

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

Aliases & Classifications for Inclusion Body Myositis

MalaCards integrated aliases for Inclusion Body Myositis:

Name: Inclusion Body Myositis 57 12 53 54 59 37 29 6 15 73
Inclusion Body Myopathy 2 12 53 25 29 6
Inclusion Body Myopathy 3 12 53 37 29 6
Inclusion Body Myopathy, Autosomal Recessive 53 25 13 73
Hereditary Inclusion Body Myopathy 12 76 53 25
Nonaka Myopathy 12 53 25 73
Distal Myopathy with Rimmed Vacuoles 12 53 25
Sporadic Inclusion Body Myositis 53 59 55
Hibm 12 53 25
Ibm2 12 53 25
Ibm 57 53 59
Inclusion Body Myopathy, Quadriceps-Sparing 53 25
Myositis, Inclusion Body 76 44
Rimmed Vacuole Myopathy 53 25
Dmrv 53 25
Qsm 53 25
Myopathy with Congenital Joint Contractures, Ophthalmoplegia, and Rimmed Vacuoles 53
Hereditary Inclusion Body Myopathy - Joint Contractures - Ophthalmoplegia 53
Inclusion Body Myopathy, Autosomal Dominant 73
Inclusion Body Myopathy Autosomal Dominant 53
Hereditary Inclusion Body Myopathy Type 3 53
Inclusion Body Myopathy, Sporadic 73
Distal Myopathy, Nonaka Type 12
Quadriceps Sparing Myopathy 53
Inflammatory Myopathies 54
Myositis Inclusion Body 55
Inflammatory Myopathy 53
Gne Myopathy 53
Myositis 73
Ibm-3 12
Hibm3 53
Ibm3 53
Sibm 59

Characteristics:

Orphanet epidemiological data:

59
inclusion body myositis
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

57
Miscellaneous:
variable phenotype
slowly progressive
most common muscle disease of older persons

Inheritance:
isolated cases


HPO:

32
inclusion body myositis:
Onset and clinical course phenotypic variability slow progression
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Inclusion Body Myositis

NINDS : 54 Inclusion body myositis (IBM) is one of a group of muscle diseases known as the inflammatory myopathies, which are characterized by chronic, progressive muscle inflammation accompanied by muscle weakness.  The onset of muscle weakness in IBM is generally gradual (over months or years) and affects both proximal (close to the trunk of the body) and distal (further away from the trunk) muscles.  Muscle weakness may affect only one side of the body.  Falling and tripping are usually the first noticeable symptoms of IBM.  For some individuals, the disorder begins with weakness in the wrists and fingers that causes difficulty with pinching, buttoning, and gripping objects.  There may be weakness of the wrist and finger muscles and atrophy (thinning or loss of muscle bulk) of the forearm muscles and quadricep muscles in the legs.  Difficulty swallowing occurs in approximately half of IBM cases.  Symptoms of the disease usually begin after the age of 50, although the disease can occur earlier.  IBM occurs more frequently in men than in women.

MalaCards based summary : Inclusion Body Myositis, also known as inclusion body myopathy 2, is related to myositis and polymyositis, and has symptoms including muscle weakness, generalized muscle weakness and myoclonus. An important gene associated with Inclusion Body Myositis is GNE (Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase), and among its related pathways/superpathways are Tight junction and Neuroscience. The drugs Abatacept and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, t cells and brain, and related phenotypes are feeding difficulties in infancy and elevated serum creatine phosphokinase

Disease Ontology : 12 A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms.

Genetics Home Reference : 25 Inclusion body myopathy 2 is a condition that primarily affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes muscle weakness that appears in late adolescence or early adulthood and worsens over time.

NIH Rare Diseases : 53 Inclusion body myopathy 2, also known as hereditary inclusion body myopathy (HIBM), GNE-related myopathy,  distal myopathy with rimmed vacuoles, and Nonaka myopathy, is an inherited condition that primarily affects the skeletal muscles (the muscles that the body uses to move). This disorder is characterized by muscle weakness that appears in late adolescence or early adulthood and worsens over time. Early symptoms typically develop in the 20s and 30s and may include difficulty running or walking, tripping, weakness in the index finger, and frequent loss of balance. Inclusion body myopathy 2 is caused by mutations in the GNE gene. The condition is inherited in an autosomal recessive manner. Treatment is focused on managing individual symptoms.

OMIM : 57 Sporadic inclusion body myositis (IBM) is the most common age-related muscle disease in the elderly that results in severe disability. Although traditionally considered an inflammatory myopathy, it is now considered to be more consistent with a myodegenerative disease (Sugarman et al., 2002; Askanas and Engel, 2006). (147421)

Wikipedia : 76 Hereditary inclusion body myopathies (HIBM) are a heterogeneous group of very rare genetic disorders... more...

Related Diseases for Inclusion Body Myositis

Diseases related to Inclusion Body Myositis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 236)
# Related Disease Score Top Affiliating Genes
1 myositis 32.1 NT5C1A MAPT GNE BACE1 APP
2 polymyositis 31.7 MIR222 MIR214 MIR21 MIR155 MIR146B
3 dementia 30.7 MAPT BACE1 APP APOE
4 frontotemporal dementia 30.5 RPS27A MAPT APP APOE
5 alzheimer disease 30.2 MIR34A MIR197 MAPT BACE1-AS BACE1 APP
6 amyloidosis 30.1 APOE APP BACE1
7 dermatomyositis 29.6 MIR381 MIR222 MIR221 MIR214 MIR21 MIR155
8 congestive heart failure 29.1 BACE1-AS MIR21 MIR214
9 muscular dystrophy, duchenne type 28.9 MIR34A MIR222 MIR221 MIR214 MIR21 MIR146B
10 nonaka myopathy 12.7
11 hereditary inclusion body myopathy type 4 12.4
12 inflammatory myopathy with abundant macrophages 12.3
13 myopathy, proximal, and ophthalmoplegia 12.2
14 gne-related myopathy 11.7
15 necrotizing autoimmune myopathy 11.7
16 myopathy 11.6
17 idiopathic inflammatory myopathy 11.6
18 welander distal myopathy, swedish type 11.6
19 myopathy, distal, with rimmed vacuoles 11.6
20 hereditary myopathy with early respiratory failure 11.0
21 hereditary proximal myopathy with early respiratory failure 11.0
22 camptocormism 11.0
23 distal myopathy with vocal cord weakness 11.0
24 muscle disorders 10.8
25 dysphagia 10.6
26 aging 10.4
27 lung disease 10.4
28 interstitial lung disease 10.4
29 muscular dystrophy 10.3
30 senile plaque formation 10.3 APP APOE
31 simultanagnosia 10.3 MAPT APOE
32 posterior cortical atrophy 10.3 MAPT APOE
33 alzheimer's disease 1 10.3 APP APOE
34 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.3 RPS27A MAPT
35 familial idiopathic basal ganglia calcification 10.3 MAPT APP APOE
36 kohlschutter-tonz syndrome 10.3 MAPT APP APOE
37 semantic dementia 10.3 RPS27A MAPT APOE
38 hepatitis 10.3
39 respiratory failure 10.3
40 hepatitis c 10.3
41 viral infectious disease 10.3
42 binswanger's disease 10.3 MAPT APP APOE
43 alzheimer disease 2 10.3 MAPT APP APOE
44 aphasia 10.2 MAPT APP APOE
45 gait apraxia 10.2 APOE APP
46 cerebral amyloid angiopathy, cst3-related 10.2 MAPT APP APOE
47 leukoencephalopathy, hereditary diffuse, with spheroids 10.2 RPS27A MAPT APP
48 vascular dementia 10.2 MAPT APP APOE
49 premature chromatid separation trait 10.2
50 oculopharyngeal muscular dystrophy 10.2

Graphical network of the top 20 diseases related to Inclusion Body Myositis:



Diseases related to Inclusion Body Myositis

Symptoms & Phenotypes for Inclusion Body Myositis

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
dysphagia

Muscle Soft Tissue:
rimmed vacuoles
muscle weakness, proximal
muscle atrophy, especially quadriceps and forearm muscles
muscle weakness, distal
muscle biopsy shows inflammation with t cells
more

Clinical features from OMIM:

147421

Human phenotypes related to Inclusion Body Myositis:

59 32 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 feeding difficulties in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0008872
2 elevated serum creatine phosphokinase 59 32 hallmark (90%) Very frequent (99-80%) HP:0003236
3 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
4 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
5 autoimmunity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002960
6 reduced tendon reflexes 59 32 frequent (33%) Frequent (79-30%) HP:0001315
7 rimmed vacuoles 59 32 hallmark (90%) Very frequent (99-80%) HP:0003805
8 ragged-red muscle fibers 59 32 hallmark (90%) Very frequent (99-80%) HP:0003200
9 myalgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003326
10 proximal muscle weakness 59 32 Very frequent (99-80%) HP:0003701
11 inflammatory myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009071
12 quadriceps muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003731
13 hypothyroidism 32 frequent (33%) HP:0000821
14 dysphagia 32 HP:0002015
15 facial palsy 32 occasional (7.5%) HP:0010628
16 cardiomyopathy 32 very rare (1%) HP:0001638
17 scapular winging 32 occasional (7.5%) HP:0003691
18 hyporeflexia 32 HP:0001265
19 abnormality of muscle fibers 59 Very frequent (99-80%)
20 mildly elevated creatine phosphokinase 32 hallmark (90%) HP:0008180
21 increased variability in muscle fiber diameter 32 frequent (33%) HP:0003557
22 foot dorsiflexor weakness 32 hallmark (90%) HP:0009027
23 distal muscle weakness 32 HP:0002460
24 steppage gait 32 frequent (33%) HP:0003376
25 tibialis muscle weakness 32 hallmark (90%) HP:0008963
26 limited shoulder movement 32 frequent (33%) HP:0006467
27 lower limb amyotrophy 32 occasional (7.5%) HP:0007210
28 absent achilles reflex 32 frequent (33%) HP:0003438
29 shoulder girdle muscle weakness 32 frequent (33%) HP:0003547
30 fatty replacement of skeletal muscle 32 hallmark (90%) HP:0012548
31 shoulder girdle muscle atrophy 32 occasional (7.5%) HP:0003724
32 limited wrist extension 32 frequent (33%) HP:0006251
33 hip flexor weakness 32 frequent (33%) HP:0012515
34 weakness of long finger extensor muscles 32 very rare (1%) HP:0009077
35 muscle fiber inclusion bodies 32 hallmark (90%) HP:0100299
36 abnormality of the right hemidiaphragm 32 occasional (7.5%) HP:0040047
37 emg 32 frequent (33%) HP:0003458

UMLS symptoms related to Inclusion Body Myositis:


muscle weakness, generalized muscle weakness, myoclonus, back pain, myalgia, torticollis, ophthalmoplegia, sciatica, muscle rigidity, muscle cramp, muscle spasticity

Drugs & Therapeutics for Inclusion Body Myositis

Drugs for Inclusion Body Myositis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 80)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Abatacept Approved Phase 4,Phase 3 332348-12-6 10237
2 Immunosuppressive Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
3 Antirheumatic Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
4 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
5
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 46835353 6436030 5284616
6
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177
7
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
8
Infliximab Approved Phase 2, Phase 3 170277-31-3
9
Methylprednisolone Approved, Vet_approved Phase 3,Phase 1 83-43-2 6741
10
Prednisolone Approved, Vet_approved Phase 3,Phase 1 50-24-8 5755
11
Prednisolone phosphate Approved, Vet_approved Phase 3,Phase 1 302-25-0
12
Methylprednisolone hemisuccinate Approved Phase 3,Phase 1 2921-57-5
13
Methotrexate Approved Phase 3 59-05-2, 1959-05-2 126941
14
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
15
leucovorin Approved Phase 3 58-05-9 6006 143
16
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
17
Prednisolone hemisuccinate Experimental Phase 3,Phase 1 2920-86-7
18 Antibodies Phase 3,Phase 2,Not Applicable
19 Pharmaceutical Solutions Phase 3,Phase 2
20 Antibodies, Blocking Phase 3,Phase 2
21 Immunoglobulins Phase 3,Phase 2,Not Applicable
22 Antibodies, Monoclonal Phase 3,Phase 2
23 Anti-Infective Agents Phase 2, Phase 3
24 Antibiotics, Antitubercular Phase 2, Phase 3
25 Antifungal Agents Phase 2, Phase 3
26 Anti-Bacterial Agents Phase 2, Phase 3
27 Interleukin 1 Receptor Antagonist Protein Phase 2, Phase 3
28 Dermatologic Agents Phase 2, Phase 3,Phase 3
29 Gastrointestinal Agents Phase 2, Phase 3,Phase 1,Early Phase 1
30 Immunoglobulins, Intravenous Phase 3,Phase 2
31 gamma-Globulins Phase 3,Phase 2
32 Rho(D) Immune Globulin Phase 3,Phase 2
33 Antimetabolites, Antineoplastic Phase 3
34 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1
35 Antineoplastic Agents, Hormonal Phase 3,Phase 1
36 Hormones Phase 3,Phase 1
37 Nucleic Acid Synthesis Inhibitors Phase 3
38 Vitamin B9 Phase 3
39 Anti-Inflammatory Agents Phase 3,Phase 1,Early Phase 1
40 Folic Acid Antagonists Phase 3
41 Hormone Antagonists Phase 3,Phase 1
42 Vitamin B Complex Phase 3
43 Prednisolone acetate Phase 3,Phase 1
44 Methylprednisolone acetate Phase 3,Phase 1
45 Antimetabolites Phase 3,Not Applicable
46 glucocorticoids Phase 3,Phase 1
47 Folate Phase 3
48
alemtuzumab Approved, Investigational Phase 2 216503-57-0
49
rituximab Approved Phase 2,Phase 1 174722-31-7 10201696
50 Antioxidants Phase 2

Interventional clinical trials:

(show top 50) (show all 59)
# Name Status NCT ID Phase Drugs
1 Abatacept in Juvenile Dermatomyositis Recruiting NCT02594735 Phase 4 Abatacept
2 Arimoclomol in Sporadic Inclusion Body Myositis Completed NCT00769860 Phase 2, Phase 3 Arimoclomol
3 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
4 Study of Long-term Safety, Efficacy Tolerability of BYM338 in Patients With Sporadic Inclusion Body Myositis Completed NCT02250443 Phase 2, Phase 3 BYM338 (Bimagrumab)
5 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
6 Rapamycine vs Placebo for the Treatment of Inclusion Body Myositis Completed NCT02481453 Phase 2, Phase 3 Rapamycin;Placebo
7 Anakinra in Myositis Completed NCT01165008 Phase 2, Phase 3 Anakinra
8 Trial to Evaluate the Efficacy and Safety of Abatacept in Combination With Standard Therapy Compared to Standard Therapy Alone in Improving Disease Activity in Adults With Active Idiopathic Inflammatory Myopathy Recruiting NCT02971683 Phase 3 Abatacept subcutaneous;Placebo
9 Treatment With TNF Blockade, Infliximab, in Patients With Myositis Completed NCT00443222 Phase 2, Phase 3 Infliximab
10 Study Evaluating Efficacy and Safety of Octagam 10% in Patients With Dermatomyositis (Idiopathic Inflammatory Myopathy) Active, not recruiting NCT02728752 Phase 3 Octagam 10%
11 Combined Treatment of Methotrexate + Glucocorticoids Versus Glucocorticoids Alone in Patients With PM and DM Completed NCT00651040 Phase 3 Prednisone;Methotrexate
12 Cyclophosphamide and Azathioprine vs Tacrolimus in Antisynthetase Syndrome-related Interstitial Lung Disease Not yet recruiting NCT03770663 Phase 3 Cyclophosphamide and azathioprine;Tacrolimus
13 L-Citrulline in Patients With Post-Polio Syndrome Completed NCT02801071 Phase 3 15g L-citrulline daily p.o.;Placebo
14 Efficacy, Safety and Tolerability of BYM338 in Patients With Sporadic Inclusion Body Myositis Completed NCT01423110 Phase 2
15 Study of Arimoclomol in Inclusion Body Myositis (IBM) Recruiting NCT02753530 Phase 2 Arimoclomol
16 Safety and Efficacy of REGN2477+REGN1033 in Patients With Sporadic Inclusion Body Myositis Not yet recruiting NCT03710941 Phase 2 REGN2477+REGN1033;Matching placebo
17 Intravenousimmunoglobulin (IVIg) for the Treatment of Inflammatory Myopathies Completed NCT00001261 Phase 2 Gamma Globulin
18 Alemtuzumab to Treat Sporadic Inclusion Body Myositis Completed NCT00079768 Phase 2 Alemtuzumab (Campath)
19 Rituximab for the Treatment of Refractory Inflammatory Myopathies and Refractory Myasthenia Gravis Completed NCT00774462 Phase 2 Rituximab
20 Rituximab for the Treatment of Refractory Adult and Juvenile Dermatomyositis (DM) and Adult Polymyositis (PM) Completed NCT00106184 Phase 2 Rituximab;Placebo
21 Sodium Thiosulfate for Treatment of Calcinosis Associated With Juvenile and Adult Dermatomyositis Recruiting NCT03267277 Phase 2 Sodium Thiosulfate
22 Efficacy and Tolerability of BAF312 in Patients With Polymyositis Terminated NCT01801917 Phase 2 Placebo;BAF312
23 Natalizumab in Inclusion Body Myositis (IBM) Active, not recruiting NCT02483845 Phase 1 Natalizumab
24 Study of Pioglitazone in Sporadic Inclusion Body Myositis Recruiting NCT03440034 Phase 1 Pioglitazone
25 Follistatin Gene Transfer to Patients With Becker Muscular Dystrophy and Sporadic Inclusion Body Myositis Completed NCT01519349 Phase 1
26 Stem Cell Transplantation in Idiopathic Inflammatory Myopathy Diseases Terminated NCT00278564 Phase 1 Cyclophosphamide;Mesna;ATG(rabbit);Methylprednisolone;G-CSF;Rituxan
27 A Pilot Study of Etanercept in Dermatomyositis Completed NCT00112385 Phase 1 Etanercept;Placebo
28 A Case-control Study to Assess Risk of Coronary Heart Disease in Idiopathic Inflammatory Myopathy Unknown status NCT00971828
29 Pharmacoepidemiologic General Research Extension: PGRx-sIBM Study Unknown status NCT02735447
30 Molecular Profile of the Evolution of Inclusion Body Myositis Recruiting NCT03299335 Not Applicable
31 Blood-flow Restricted Exercise in Inclusion Body Myositis Completed NCT02317094 Not Applicable Care as usual
32 Double-blind, Randomized, Placebo-controlled Trial of Etanercept for 12 Months in Subjects With Inclusion Body Myositis Completed NCT00802815 Early Phase 1 Etanercept
33 Muscle Strength and Inflammatory Response in Patients With Inclusion Body Myositis Completed NCT00898989
34 Lithium in Inclusion Body Myositis (IBM) Completed NCT00917956
35 Optimizing Treatment on Idiopathic Inflammatory Myopathies Recruiting NCT03092180 Intravenous Infusion
36 Establishing Muscle Impedance Parameters With Electrical Impedance Myography Recruiting NCT03633318 Not Applicable
37 Physical Training in Patients With Idiopathic Inflammatory Myopathies Recruiting NCT03092167 Not Applicable
38 Immune Abnormalities in Sporadic Inclusion Body Myositis Completed NCT00030212
39 Epidemiological Study of Inflammatory Myopathies in a French Region Completed NCT02881450
40 MYOPROSP - a Prospective Cohort Study in Myositis Recruiting NCT02468895
41 Diagnostic Accuracy of Whole Body Magnetic Resonance Imaging in Inflammatory Myopathies Completed NCT01432613 Not Applicable
42 Inflammatory Myopathies in Primary Sjögren's Syndrome Not yet recruiting NCT03126383
43 myoARRAY and TcLandscape Analysis for the Diagnosis of Inflammatory Myopathies Completed NCT00213629 Not Applicable
44 Exercise Capacity of Patients With Dermatomyosis Not yet recruiting NCT03293615 Not Applicable
45 Adult and Juvenile Myositis Recruiting NCT00017914
46 Investigating Genes in Patients With Polymyositis and Dermatomyositis Recruiting NCT01171573
47 Studies of the Natural History and Pathogenesis of Autoimmune/Connective Tissue Diseases Completed NCT00341679
48 Quantitative Muscle Ultrasound as a Marker of Progression in Children With Muscular Diseases Recruiting NCT03786913
49 Environmental Risk Factors for Myositis in Military Personnel Recruiting NCT01734369
50 Auto-immune Diseases and Quality of Life Completed NCT02855840

Search NIH Clinical Center for Inclusion Body Myositis

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: myositis, inclusion body

Genetic Tests for Inclusion Body Myositis

Genetic tests related to Inclusion Body Myositis:

# Genetic test Affiliating Genes
1 Inclusion Body Myopathy 2 29 GNE
2 Inclusion Body Myopathy 3 29 MYH2
3 Inclusion Body Myositis 29

Anatomical Context for Inclusion Body Myositis

MalaCards organs/tissues related to Inclusion Body Myositis:

41
Skeletal Muscle, T Cells, Brain, Myeloid, Testes, Heart, Bone

Publications for Inclusion Body Myositis

Articles related to Inclusion Body Myositis:

(show top 50) (show all 700)
# Title Authors Year
1
New Developments in the Genetics of Inclusion Body Myositis. ( 29611059 )
2018
2
Clinical, Histological, and Immunohistochemical Findings in Inclusion Body Myositis. ( 29780824 )
2018
3
Inclusion body myositis and human immunodeficiency virus type 1: A new case report and literature review. ( 29426734 )
2018
4
Muscle Shear Wave Elastography in Inclusion Body Myositis: Feasibility, Reliability and Relationships with Muscle Impairments. ( 29706410 )
2018
5
Pattern of muscle involvement in inclusion body myositis: a sonographic study. ( 29745890 )
2018
6
Health care costs and comorbidities for patients with inclusion body myositis. ( 29874942 )
2018
7
Rapamycin for inclusion body myositis: targeting non-inflammatory mechanisms. ( 29529264 )
2018
8
Update on Inclusion Body Myositis. ( 29955981 )
2018
9
Blood-flow restricted resistance training in patients with sporadic inclusion body myositis: a randomized controlled trial. ( 29775118 )
2018
10
Sporadic inclusion body myositis: magnetic resonance imaging and ultrasound characteristics. ( 29579291 )
2018
11
A Patient with HCV Infection and a Sustained Virological Response to Direct-acting Antiviral Treatment who Developed Inclusion Body Myositis. ( 29607961 )
2018
12
Electromyographic findings in sporadic inclusion body myositis. ( 29482084 )
2018
13
Sensitivity and clinical utility of the anti-cytosolic 5'-nucleotidase 1A (cN1A) antibody test in sporadic inclusion body myositis: Report of 40 patients from a single neuromuscular center. ( 30001928 )
2018
14
Sonographic similarities of inclusion body myositis and myotonic dystrophy. ( 30028511 )
2018
15
Advances in the early diagnosis and therapy of inclusion body myositis. ( 30074510 )
2018
16
Challenges in diagnosis and treatment of sporadic inclusion-body myositis. ( 30088352 )
2018
17
Inclusion Body Myositis: Update on Pathogenesis and Treatment. ( 30136253 )
2018
18
A review on the treatment of sporadic inclusion body myositis with Bimagrumab and Alemtuzumab. ( 30238817 )
2018
19
Dermoskeletics to preserve mobility and function in inclusion body myositis. ( 30323070 )
2018
20
Association between muscle strength, histopathology, and magnetic resonance imaging in sporadic inclusion body myositis. ( 30347435 )
2018
21
Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers. ( 30373890 )
2018
22
Immunohistochemical and ultrastructural analysis of sporadic inclusion body myositis: a case series. ( 30535925 )
2018
23
Physical function and muscle strength in sporadic inclusion body myositis. ( 28187529 )
2017
24
Genetics in inclusion body myositis. ( 28777108 )
2017
25
Sporadic Inclusion Body Myositis: MRI Findings and Correlation With Clinical and Functional Parameters. ( 28952813 )
2017
26
Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases. ( 28857524 )
2017
27
Calcium dysregulation, functional calpainopathy, and endoplasmic reticulum stress in sporadic inclusion body myositis. ( 28330496 )
2017
28
Inclusion body myositis: advancements in diagnosis, pathomechanisms, and treatment. ( 28832349 )
2017
29
Pathomechanisms of anti-cytosolic 5'-nucleotidase 1A autoantibodies in sporadic inclusion body myositis. ( 28318044 )
2017
30
The role of p62/SQSTM1 in sporadic inclusion body myositis. ( 28159418 )
2017
31
Association study reveals novel risk loci for sporadic inclusion body myositis. ( 28233382 )
2017
32
Inclusion body myositis pathogenesis: Steady progress. ( 28318035 )
2017
33
Five-year history of dysphagia as a sole initial symptom in inclusion body myositis. ( 28991709 )
2017
34
Sporadic inclusion body myositis - a myodegenerative disease or an inflammatory myopathy. ( 28111778 )
2017
35
Immune-array Analysis in Sporadic Inclusion Body Myositis Reveals HLA-DRB1 Amino Acid Heterogeneity across the Myositis Spectrum. ( 28086002 )
2017
36
Overlapping features of polymyositis and inclusion body myositis in HIV-infected patients. ( 28283597 )
2017
37
Burden of Illness and Healthcare Resource Use in US Patients with sporadic Inclusion Body Myositis. ( 28493327 )
2017
38
Immune and myodegenerative pathomechanisms in inclusion body myositis. ( 28589170 )
2017
39
A case of inclusion body myositis complicated by microscopic polyangiitis. ( 28726537 )
2017
40
Follistatin Gene Therapy for Sporadic Inclusion Body Myositis Improves Functional Outcomes. ( 28279643 )
2017
41
Cytosolic 5'-nucleotidase 1A autoantibody profile and clinical characteristics in inclusion body myositis. ( 28122761 )
2017
42
Comparison of serum rAAV serotype-specific antibodies in patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis or GNE myopathy. ( 28042944 )
2017
43
A Case of Asymptomatic Inclusion Body Myositis. ( 28221303 )
2017
44
Inclusion Body Myositis: A Case Presenting with Respiratory Failure and Autopsy Findings Leading to the Hypothesis of a Paraneoplastic Cause. ( 28642454 )
2017
45
Unfounded Claims of Improved Functional Outcomes Attributed to Follistatin Gene Therapy in Inclusion Body Myositis. ( 28927986 )
2017
46
Botulinum toxin alleviates dysphagia of patients with inclusion body myositis. ( 28870555 )
2017
47
Transcriptional profiling identifies differential expression of long non-coding RNAs in Jo-1 associated and inclusion body myositis. ( 28808260 )
2017
48
A rare association of anti-alanine-transfer RNA synthetase (anti-PL12) syndrome and sporadic inclusion body myositis. ( 28780890 )
2017
49
Fist sign in inclusion body myositis. ( 28215761 )
2017
50
Cytokine Profiling of Serum Allows Monitoring of Disease Progression in Inclusion Body Myositis. ( 29172005 )
2017

Variations for Inclusion Body Myositis

ClinVar genetic disease variations for Inclusion Body Myositis:

6 (show top 50) (show all 539)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNE NM_001128227.2(GNE): c.1985C> T (p.Ala662Val) single nucleotide variant Pathogenic rs62541771 GRCh38 Chromosome 9, 36218224: 36218224
2 MYH2 NM_017534.5(MYH2): c.2116G> A (p.Glu706Lys) single nucleotide variant Pathogenic rs121434589 GRCh37 Chromosome 17, 10438454: 10438454
3 MYH2 NM_017534.5(MYH2): c.2116G> A (p.Glu706Lys) single nucleotide variant Pathogenic rs121434589 GRCh38 Chromosome 17, 10535137: 10535137
4 GNE NM_005476.5(GNE): c.527A> T (p.Asp176Val) single nucleotide variant Pathogenic/Likely pathogenic rs139425890 GRCh37 Chromosome 9, 36246117: 36246117
5 GNE NM_005476.5(GNE): c.527A> T (p.Asp176Val) single nucleotide variant Pathogenic/Likely pathogenic rs139425890 GRCh38 Chromosome 9, 36246120: 36246120
6 GNE NM_001128227.2(GNE): c.1863C> T (p.Tyr621=) single nucleotide variant Benign/Likely benign rs111302956 GRCh37 Chromosome 9, 36219881: 36219881
7 GNE NM_001128227.2(GNE): c.1863C> T (p.Tyr621=) single nucleotide variant Benign/Likely benign rs111302956 GRCh38 Chromosome 9, 36219884: 36219884
8 GNE NM_001128227.2(GNE): c.804G> A (p.Leu268=) single nucleotide variant Uncertain significance rs724159957 GRCh37 Chromosome 9, 36236887: 36236887
9 GNE NM_001128227.2(GNE): c.804G> A (p.Leu268=) single nucleotide variant Uncertain significance rs724159957 GRCh38 Chromosome 9, 36236890: 36236890
10 MYH2 NM_017534.5(MYH2): c.5609T> C (p.Leu1870Pro) single nucleotide variant Pathogenic rs786201023 GRCh38 Chromosome 17, 10523154: 10523154
11 MYH2 NM_017534.5(MYH2): c.5609T> C (p.Leu1870Pro) single nucleotide variant Pathogenic rs786201023 GRCh37 Chromosome 17, 10426471: 10426471
12 MYH2 NM_017534.5(MYH2): c.904+1G> A single nucleotide variant Pathogenic rs879255253 GRCh37 Chromosome 17, 10446191: 10446191
13 MYH2 NM_017534.5(MYH2): c.904+1G> A single nucleotide variant Pathogenic rs879255253 GRCh38 Chromosome 17, 10542874: 10542874
14 MYH2 NM_017534.5(MYH2): c.2347C> T (p.Arg783Ter) single nucleotide variant Pathogenic rs762121316 GRCh38 Chromosome 17, 10533379: 10533379
15 MYH2 NM_017534.5(MYH2): c.2347C> T (p.Arg783Ter) single nucleotide variant Pathogenic rs762121316 GRCh37 Chromosome 17, 10436696: 10436696
16 MYH2 NM_017534.5(MYH2): c.1975-2A> G single nucleotide variant Pathogenic rs746770617 GRCh37 Chromosome 17, 10438684: 10438684
17 MYH2 NM_017534.5(MYH2): c.1975-2A> G single nucleotide variant Pathogenic rs746770617 GRCh38 Chromosome 17, 10535367: 10535367
18 MYH2 NM_017534.5(MYH2): c.2405T> A (p.Leu802Ter) single nucleotide variant Pathogenic rs758395765 GRCh37 Chromosome 17, 10436638: 10436638
19 MYH2 NM_017534.5(MYH2): c.2405T> A (p.Leu802Ter) single nucleotide variant Pathogenic rs758395765 GRCh38 Chromosome 17, 10533321: 10533321
20 MYH2 NM_017534.5(MYH2): c.2400delG (p.Phe801Serfs) deletion Pathogenic rs879255254 GRCh37 Chromosome 17, 10436643: 10436643
21 MYH2 NM_017534.5(MYH2): c.2400delG (p.Phe801Serfs) deletion Pathogenic rs879255254 GRCh38 Chromosome 17, 10533326: 10533326
22 MYH2 NM_017534.5(MYH2): c.706G> A (p.Ala236Thr) single nucleotide variant Pathogenic rs147708782 GRCh37 Chromosome 17, 10447063: 10447063
23 MYH2 NM_017534.5(MYH2): c.706G> A (p.Ala236Thr) single nucleotide variant Pathogenic rs147708782 GRCh38 Chromosome 17, 10543746: 10543746
24 MYH2 NM_017534.5(MYH2): c.533C> T (p.Thr178Ile) single nucleotide variant Pathogenic rs756953958 GRCh37 Chromosome 17, 10447417: 10447417
25 MYH2 NM_017534.5(MYH2): c.533C> T (p.Thr178Ile) single nucleotide variant Pathogenic rs756953958 GRCh38 Chromosome 17, 10544100: 10544100
26 GNE NM_001128227.2(GNE): c.2179G> T (p.Val727Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs121908627 GRCh37 Chromosome 9, 36217445: 36217445
27 MYH2 NM_017534.5(MYH2): c.2106C> T (p.Asn702=) single nucleotide variant Benign/Likely benign rs145039915 GRCh37 Chromosome 17, 10438464: 10438464
28 MYH2 NM_017534.5(MYH2): c.2106C> T (p.Asn702=) single nucleotide variant Benign/Likely benign rs145039915 GRCh38 Chromosome 17, 10535147: 10535147
29 MYH2 NM_017534.5(MYH2): c.2295G> A (p.Gly765=) single nucleotide variant Benign rs79757188 GRCh37 Chromosome 17, 10436835: 10436835
30 MYH2 NM_017534.5(MYH2): c.2295G> A (p.Gly765=) single nucleotide variant Benign rs79757188 GRCh38 Chromosome 17, 10533518: 10533518
31 MYH2 NM_017534.5(MYH2): c.2304+7T> G single nucleotide variant Benign/Likely benign rs370223713 GRCh37 Chromosome 17, 10436819: 10436819
32 MYH2 NM_017534.5(MYH2): c.2304+7T> G single nucleotide variant Benign/Likely benign rs370223713 GRCh38 Chromosome 17, 10533502: 10533502
33 MYH2 NM_017534.5(MYH2): c.2565G> A (p.Met855Ile) single nucleotide variant Uncertain significance rs184494954 GRCh37 Chromosome 17, 10435082: 10435082
34 MYH2 NM_017534.5(MYH2): c.2565G> A (p.Met855Ile) single nucleotide variant Uncertain significance rs184494954 GRCh38 Chromosome 17, 10531765: 10531765
35 MYH2 NM_017534.5(MYH2): c.2908G> A (p.Val970Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs143872329 GRCh37 Chromosome 17, 10433181: 10433181
36 MYH2 NM_017534.5(MYH2): c.2908G> A (p.Val970Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs143872329 GRCh38 Chromosome 17, 10529864: 10529864
37 MYH2 NM_017534.5(MYH2): c.3181C> G (p.Leu1061Val) single nucleotide variant Likely benign rs142586585 GRCh37 Chromosome 17, 10432735: 10432735
38 MYH2 NM_017534.5(MYH2): c.3181C> G (p.Leu1061Val) single nucleotide variant Likely benign rs142586585 GRCh38 Chromosome 17, 10529418: 10529418
39 MYH2 NM_017534.5(MYH2): c.3127T> G (p.Ser1043Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs11658164 GRCh37 Chromosome 17, 10432789: 10432789
40 MYH2 NM_017534.5(MYH2): c.3127T> G (p.Ser1043Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs11658164 GRCh38 Chromosome 17, 10529472: 10529472
41 MYH2 NM_017534.5(MYH2): c.3432C> T (p.Asp1144=) single nucleotide variant Benign/Likely benign rs184725551 GRCh37 Chromosome 17, 10432319: 10432319
42 MYH2 NM_017534.5(MYH2): c.3432C> T (p.Asp1144=) single nucleotide variant Benign/Likely benign rs184725551 GRCh38 Chromosome 17, 10529002: 10529002
43 GNE NM_001128227.2(GNE): c.559T> C (p.Tyr187His) single nucleotide variant Uncertain significance rs794727505 GRCh37 Chromosome 9, 36246178: 36246178
44 GNE NM_001128227.2(GNE): c.559T> C (p.Tyr187His) single nucleotide variant Uncertain significance rs794727505 GRCh38 Chromosome 9, 36246181: 36246181
45 GNE NM_001128227.2(GNE): c.693C> T (p.Ile231=) single nucleotide variant Benign rs7047950 GRCh37 Chromosome 9, 36246044: 36246044
46 GNE NM_001128227.2(GNE): c.693C> T (p.Ile231=) single nucleotide variant Benign rs7047950 GRCh38 Chromosome 9, 36246047: 36246047
47 GNE NM_001128227.2(GNE): c.829C> T (p.Arg277Trp) single nucleotide variant Pathogenic rs773729410 GRCh37 Chromosome 9, 36236862: 36236862
48 GNE NM_001128227.2(GNE): c.829C> T (p.Arg277Trp) single nucleotide variant Pathogenic rs773729410 GRCh38 Chromosome 9, 36236865: 36236865
49 MYH2 NM_017534.5(MYH2): c.5780G> A (p.Arg1927Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs34161789 GRCh37 Chromosome 17, 10424643: 10424643
50 MYH2 NM_017534.5(MYH2): c.5780G> A (p.Arg1927Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs34161789 GRCh38 Chromosome 17, 10521326: 10521326

Expression for Inclusion Body Myositis

Search GEO for disease gene expression data for Inclusion Body Myositis.

Pathways for Inclusion Body Myositis

Pathways related to Inclusion Body Myositis according to KEGG:

37
# Name Kegg Source Accession
1 Tight junction hsa04530

Pathways related to Inclusion Body Myositis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.19 APOE APP BACE1 MAPT RPS27A
2 11.64 MIR155 MIR21 MIR214 MIR221 MIR222 MIR223
3 11.23 APP BACE1 MAPT
4 10.91 MIR146B MIR221 MIR222
5 10.91 APOE APP BACE1 MAPT
6 10.73 APP BACE1

GO Terms for Inclusion Body Myositis

Cellular components related to Inclusion Body Myositis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.7 APOE APP MIR146B MIR155 MIR197 MIR21
2 micro-ribonucleoprotein complex GO:0035068 9.32 MIR146B MIR155 MIR197 MIR21 MIR214 MIR221
3 main axon GO:0044304 9.16 APP MAPT

Biological processes related to Inclusion Body Myositis according to GeneCards Suite gene sharing:

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.96 APP MIR21 MIR221 MIR222
2 cellular protein metabolic process GO:0044267 9.93 APOE APP BACE1 RPS27A
3 negative regulation of cell migration GO:0030336 9.85 MIR21 MIR214 MIR34A
4 negative regulation of angiogenesis GO:0016525 9.85 MIR21 MIR214 MIR222 MIR34A
5 cholesterol homeostasis GO:0042632 9.84 APOE MIR155 MIR34A
6 negative regulation of inflammatory response GO:0050728 9.84 APOE MIR155 MIR221 MIR222
7 negative regulation of gene expression GO:0010629 9.8 APOE APP MAPT MIR155 MIR21 MIR214
8 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.79 MIR146B MIR155 MIR221
9 positive regulation of epithelial to mesenchymal transition GO:0010718 9.78 MIR21 MIR221 MIR222
10 negative regulation of vascular smooth muscle cell proliferation GO:1904706 9.77 MIR214 MIR223 MIR34A
11 positive regulation of G1/S transition of mitotic cell cycle GO:1900087 9.76 MIR214 MIR221 MIR222
12 miRNA mediated inhibition of translation GO:0035278 9.76 MIR155 MIR21 MIR221 MIR222
13 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.67 MIR21 MIR214 MIR221 MIR222
14 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.66 MIR155 MIR214
15 virion assembly GO:0019068 9.65 APOE RPS27A
16 astrocyte activation GO:0048143 9.65 APP MAPT
17 negative regulation of long-term synaptic potentiation GO:1900272 9.65 APOE APP
18 response to lead ion GO:0010288 9.65 APP BACE1 MAPT
19 amyloid fibril formation GO:1990000 9.64 APP MAPT
20 cellular response to manganese ion GO:0071287 9.64 APP BACE1
21 negative regulation by host of viral genome replication GO:0044828 9.63 MIR221 MIR222
22 positive regulation of axon regeneration GO:0048680 9.62 MIR221 MIR222
23 negative regulation of regulatory T cell differentiation GO:0045590 9.62 MIR155 MIR21
24 negative regulation of cytokine production involved in inflammatory response GO:1900016 9.61 MIR155 MIR221 MIR222
25 positive regulation of amyloid fibril formation GO:1905908 9.6 APOE APP
26 negative regulation of TRAIL-activated apoptotic signaling pathway GO:1903122 9.58 MIR221 MIR222
27 positive regulation of connective tissue replacement GO:1905205 9.58 MIR155 MIR214 MIR34A
28 negative regulation of vascular wound healing GO:0061044 9.57 MIR155 MIR34A
29 positive regulation of vascular smooth muscle cell dedifferentiation GO:1905176 9.56 MIR214 MIR221
30 negative regulation of hematopoietic stem cell proliferation GO:1902034 9.52 MIR221 MIR222
31 positive regulation of Schwann cell migration GO:1900149 9.51 MIR221 MIR222
32 positive regulation of Schwann cell proliferation involved in axon regeneration GO:1905046 9.49 MIR221 MIR222
33 negative regulation of leukocyte adhesion to vascular endothelial cell GO:1904995 9.43 MIR155 MIR221 MIR222
34 negative regulation of cell adhesion molecule production GO:0060354 9.33 MIR155 MIR221 MIR222
35 gene silencing by miRNA GO:0035195 9.32 MIR146B MIR155 MIR197 MIR21 MIR214 MIR221
36 negative regulation of vascular associated smooth muscle cell migration GO:1904753 9.26 MIR21 MIR214 MIR223 MIR34A

Molecular functions related to Inclusion Body Myositis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.23 MIR146B MIR155 MIR21 MIR214 MIR221 MIR222
2 lipoprotein particle binding GO:0071813 8.96 APOE MAPT

Sources for Inclusion Body Myositis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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