MCID: INC002
MIFTS: 63

Inclusion Body Myositis

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



External Ids:

OMIM 57 147421
Disease Ontology 12 DOID:3429
ICD10 33 G72.41
ICD9CM 35 359.71
MeSH 44 D018979
NCIt 50 C84786
SNOMED-CT 68 72315009
Orphanet 59 ORPHA611
UMLS via Orphanet 74 C0238190 C0751713
ICD10 via Orphanet 34 M60.8
MedGen 42 C0238190

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 back pain, muscle cramp and muscle rigidity. 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 Antirheumatic Agents have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, t cells and heart, and related phenotypes are feeding difficulties in infancy and elevated serum creatine phosphokinase

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)

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.

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.

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.

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 136)
# Related Disease Score Top Affiliating Genes
1 myositis 32.2 APP BACE1 GNE MAPT NT5C1A
2 polymyositis 30.9 MIR146B MIR155 MIR21 MIR222
3 amyloidosis 30.3 APOE APP BACE1
4 alzheimer disease 29.5 APOE APP BACE1 BACE1-AS MAPT MIR197
5 leukemia, chronic lymphocytic 27.5 CXCR3 MIR155 MIR21 MIR221 MIR223 MIR34A
6 muscular dystrophy, duchenne type 25.7 MIR146B MIR155 MIR197 MIR221 MIR222 MIR34A
7 dermatomyositis 25.7 MIR146B MIR21 MIR214 MIR221 MIR222 MIR223
8 hereditary inclusion body myopathy type 4 12.2
9 myopathy 11.5
10 idiopathic inflammatory myopathy 11.4
11 welander distal myopathy, swedish type 11.4
12 myopathy, proximal, and ophthalmoplegia 11.4
13 nonaka myopathy 11.4
14 gne-related myopathy 11.4
15 myopathy, distal, with rimmed vacuoles 11.3
16 senile plaque formation 10.9 APOE APP
17 simultanagnosia 10.9 APOE MAPT
18 posterior cortical atrophy 10.9 APOE MAPT
19 familial idiopathic basal ganglia calcification 10.9 APOE APP MAPT
20 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.8 MAPT RPS27A
21 semantic dementia 10.8 APOE MAPT RPS27A
22 binswanger's disease 10.8 APOE APP MAPT
23 leukoencephalopathy, hereditary diffuse, with spheroids 10.8 APP MAPT RPS27A
24 alzheimer disease 2 10.8 APOE APP MAPT
25 aphasia 10.8 APOE APP MAPT
26 gait apraxia 10.7 APOE APP
27 vascular dementia 10.7 APOE APP MAPT
28 pick disease of brain 10.7 APOE APP MAPT RPS27A
29 supranuclear palsy, progressive, 1 10.7 APOE APP MAPT RPS27A
30 cerebral amyloid angiopathy, cst3-related 10.7 APOE APP BACE1 MAPT
31 dementia, lewy body 10.6 APOE APP MAPT RPS27A
32 disease of mental health 10.6 APOE APP BACE1 MAPT
33 frontotemporal dementia 10.6 APOE APP MAPT RPS27A
34 age-related hearing loss 10.5 APOE MIR34A
35 dementia 10.5 APOE APP BACE1 MAPT
36 kluver-bucy syndrome 10.4 APP MAPT
37 dysphagia 10.4
38 aging 10.4
39 central nervous system disease 10.4 APOE APP BACE1 CXCR3 MAPT
40 nervous system disease 10.4 APOE APP BACE1 CXCR3 MAPT
41 ovarian serous carcinoma 10.3 MIR21 MIR214
42 muscular dystrophy 10.2
43 respiratory failure 10.1
44 hepatitis c 10.1
45 leiomyoma, uterine 10.1 MIR197 MIR21 MIR34A
46 oculopharyngeal muscular dystrophy 10.1
47 hepatitis c virus 10.1
48 hepatitis 10.1
49 leukemia 10.1
50 rheumatoid arthritis 10.0

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 16)
# 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 ragged-red muscle fibers 59 32 hallmark (90%) Very frequent (99-80%) HP:0003200
8 myalgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003326
9 proximal muscle weakness 59 32 Very frequent (99-80%) HP:0003701
10 inflammatory myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009071
11 quadriceps muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003731
12 rimmed vacuoles 59 32 hallmark (90%) Very frequent (99-80%) HP:0003805
13 dysphagia 32 HP:0002015
14 hyporeflexia 32 HP:0001265
15 abnormality of muscle fibers 59 Very frequent (99-80%)
16 distal muscle weakness 32 HP:0002460

UMLS symptoms related to Inclusion Body Myositis:


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

Drugs & Therapeutics for Inclusion Body Myositis

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

(show top 50) (show all 70)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Abatacept Approved Phase 4,Phase 3 332348-12-6 10237
2 Antirheumatic Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
3 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
4
Infliximab Approved Phase 2, Phase 3 170277-31-3
5
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
6
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
7
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
8
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
9
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177
10
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
11
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030 46835353
12
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
13
leucovorin Approved, Nutraceutical Phase 3 58-05-9 143 6006
14 Antibodies Phase 3,Phase 2,Not Applicable
15 Antibodies, Blocking Phase 3,Phase 2
16 Antibodies, Monoclonal Phase 3,Phase 2
17 Immunoglobulins Phase 3,Phase 2,Not Applicable
18 Pharmaceutical Solutions Phase 2, Phase 3,Phase 3
19 Interleukin 1 Receptor Antagonist Protein Phase 2, Phase 3
20 Dermatologic Agents Phase 2, Phase 3,Phase 3
21 Gastrointestinal Agents Phase 2, Phase 3,Phase 1,Early Phase 1
22 Anti-Inflammatory Agents Phase 3,Phase 1,Early Phase 1
23 Antimetabolites Phase 3,Not Applicable
24 Antimetabolites, Antineoplastic Phase 3
25 Antineoplastic Agents, Hormonal Phase 3
26 Folic Acid Antagonists Phase 3
27 glucocorticoids Phase 3
28 Hormone Antagonists Phase 3
29 Hormones Phase 3
30 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
31 Methylprednisolone acetate Phase 3
32 Methylprednisolone Hemisuccinate Phase 3
33 Nucleic Acid Synthesis Inhibitors Phase 3
34 Prednisolone acetate Phase 3
35 Prednisolone hemisuccinate Phase 3
36 Prednisolone phosphate Phase 3
37 Vitamin B Complex Phase 3
38 gamma-Globulins Phase 3,Phase 2
39 Immunoglobulins, Intravenous Phase 3,Phase 2
40 Rho(D) Immune Globulin Phase 3,Phase 2
41 Anti-Bacterial Agents Phase 2, Phase 3
42 Anti-Infective Agents Phase 2, Phase 3
43 Antibiotics, Antitubercular Phase 2, Phase 3
44 Antifungal Agents Phase 2, Phase 3
45 Folate Nutraceutical Phase 3
46 Vitamin B9 Nutraceutical Phase 3
47
alemtuzumab Approved, Investigational Phase 2 216503-57-0
48
rituximab Approved Phase 2 174722-31-7 10201696
49 Antidotes Phase 2
50 Antioxidants Phase 2

Interventional clinical trials:

(show top 50) (show all 54)
# 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 Anakinra in Myositis Completed NCT01165008 Phase 2, Phase 3 Anakinra
7 Treatment With TNF Blockade, Infliximab, in Patients With Myositis Completed NCT00443222 Phase 2, Phase 3 Infliximab
8 Combined Treatment of Methotrexate + Glucocorticoids Versus Glucocorticoids Alone in Patients With PM and DM Completed NCT00651040 Phase 3 Prednisone;Methotrexate
9 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
10 Study Evaluating Efficacy and Safety of Octagam 10% in Patients With Dermatomyositis (Idiopathic Inflammatory Myopathy) Recruiting NCT02728752 Phase 3 Octagam 10%
11 Rapamycine vs Placebo for the Treatment of Inclusion Body Myositis Active, not recruiting NCT02481453 Phase 2, Phase 3 Rapamycin;Placebo
12 L-Citrulline in Patients With Post-Polio Syndrome Active, not recruiting NCT02801071 Phase 3 15g L-citrulline daily p.o.;Placebo
13 Efficacy, Safety and Tolerability of BYM338 in Patients With Sporadic Inclusion Body Myositis Completed NCT01423110 Phase 2
14 Intravenousimmunoglobulin (IVIg) for the Treatment of Inflammatory Myopathies Completed NCT00001261 Phase 2 Gamma Globulin
15 Alemtuzumab to Treat Sporadic Inclusion Body Myositis Completed NCT00079768 Phase 2 Alemtuzumab (Campath)
16 Rituximab for the Treatment of Refractory Inflammatory Myopathies and Refractory Myasthenia Gravis Completed NCT00774462 Phase 2 Rituximab
17 Rituximab for the Treatment of Refractory Adult and Juvenile Dermatomyositis (DM) and Adult Polymyositis (PM) Completed NCT00106184 Phase 2 Rituximab;Placebo
18 Study of Arimoclomol in Inclusion Body Myositis (IBM) Recruiting NCT02753530 Phase 2 Arimoclomol
19 Sodium Thiosulfate for Treatment of Calcinosis Associated With Juvenile and Adult Dermatomyositis Recruiting NCT03267277 Phase 2 Sodium Thiosulfate
20 Efficacy and Tolerability of BAF312 in Patients With Polymyositis Terminated NCT01801917 Phase 2 Placebo;BAF312
21 Follistatin Gene Transfer to Patients With Becker Muscular Dystrophy and Sporadic Inclusion Body Myositis Completed NCT01519349 Phase 1
22 A Pilot Study of Etanercept in Dermatomyositis Completed NCT00112385 Phase 1 Etanercept;Placebo
23 Study of Pioglitazone in Sporadic Inclusion Body Myositis Recruiting NCT03440034 Phase 1 Pioglitazone
24 Natalizumab in Inclusion Body Myositis (IBM) Active, not recruiting NCT02483845 Phase 1 Natalizumab
25 Stem Cell Transplantation in Idiopathic Inflammatory Myopathy Diseases Terminated NCT00278564 Phase 1
26 A Case-control Study to Assess Risk of Coronary Heart Disease in Idiopathic Inflammatory Myopathy Unknown status NCT00971828
27 Pharmacoepidemiologic General Research Extension: PGRx-sIBM Study Unknown status NCT02735447
28 Blood-flow Restricted Exercise in Inclusion Body Myositis Completed NCT02317094 Not Applicable Care as usual
29 Double-blind, Randomized, Placebo-controlled Trial of Etanercept for 12 Months in Subjects With Inclusion Body Myositis Completed NCT00802815 Early Phase 1 Etanercept
30 Muscle Strength and Inflammatory Response in Patients With Inclusion Body Myositis Completed NCT00898989
31 Lithium in Inclusion Body Myositis (IBM) Completed NCT00917956
32 Immune Abnormalities in Sporadic Inclusion Body Myositis Completed NCT00030212
33 Epidemiological Study of Inflammatory Myopathies in a French Region Completed NCT02881450
34 Diagnostic Accuracy of Whole Body Magnetic Resonance Imaging in Inflammatory Myopathies Completed NCT01432613 Not Applicable
35 myoARRAY and TcLandscape Analysis for the Diagnosis of Inflammatory Myopathies Completed NCT00213629 Not Applicable
36 Studies of the Natural History and Pathogenesis of Autoimmune/Connective Tissue Diseases Completed NCT00341679
37 Auto-immune Diseases and Quality of Life Completed NCT02855840
38 Natural History in CCFDN and IBM Syndromes Completed NCT01902940
39 Molecular Profile of the Evolution of Inclusion Body Myositis Recruiting NCT03299335 Not Applicable
40 Optimizing Treatment on Idiopathic Inflammatory Myopathies Recruiting NCT03092180 Intravenous Infusion
41 Physical Training in Patients With Idiopathic Inflammatory Myopathies Recruiting NCT03092167 Not Applicable
42 MYOPROSP - a Prospective Cohort Study in Myositis Recruiting NCT02468895
43 Adult and Juvenile Myositis Recruiting NCT00017914
44 Investigating Genes in Patients With Polymyositis and Dermatomyositis Recruiting NCT01171573
45 Environmental Risk Factors for Myositis in Military Personnel Recruiting NCT01734369
46 Study and Treatment of Inflammatory Muscle Diseases Recruiting NCT00001265
47 Lipid-lowering Agents in Patients With Dermatomyositis and Polymyositis Recruiting NCT03092154 Not Applicable Lipid-lowering agents (Artovastatin)
48 Yellow Fever Vaccine in Patients With Rheumatic Diseases Recruiting NCT03430388 Not Applicable
49 Study of Families With Twins or Siblings Discordant for Rheumatic Disorders Recruiting NCT00055055
50 Juvenile Dermatomyositis Recruiting NCT03433638

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, Heart, Brain, Bone, Testes, Myeloid

Publications for Inclusion Body Myositis

Articles related to Inclusion Body Myositis:

(show top 50) (show all 642)
# 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
Physical function and muscle strength in sporadic inclusion body myositis. ( 28187529 )
2017
14
Genetics in inclusion body myositis. ( 28777108 )
2017
15
Sporadic Inclusion Body Myositis: MRI Findings and Correlation With Clinical and Functional Parameters. ( 28952813 )
2017
16
Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases. ( 28857524 )
2017
17
Calcium dysregulation, functional calpainopathy, and endoplasmic reticulum stress in sporadic inclusion body myositis. ( 28330496 )
2017
18
Inclusion body myositis: advancements in diagnosis, pathomechanisms, and treatment. ( 28832349 )
2017
19
Pathomechanisms of anti-cytosolic 5'-nucleotidase 1A autoantibodies in sporadic inclusion body myositis. ( 28318044 )
2017
20
The role of p62/SQSTM1 in sporadic inclusion body myositis. ( 28159418 )
2017
21
Association study reveals novel risk loci for sporadic inclusion body myositis. ( 28233382 )
2017
22
Inclusion body myositis pathogenesis: Steady progress. ( 28318035 )
2017
23
Five-year history of dysphagia as a sole initial symptom in inclusion body myositis. ( 28991709 )
2017
24
Sporadic inclusion body myositis - a myodegenerative disease or an inflammatory myopathy. ( 28111778 )
2017
25
Immune-array Analysis in Sporadic Inclusion Body Myositis Reveals HLA-DRB1 Amino Acid Heterogeneity across the Myositis Spectrum. ( 28086002 )
2017
26
Overlapping features of polymyositis and inclusion body myositis in HIV-infected patients. ( 28283597 )
2017
27
Burden of Illness and Healthcare Resource Use in US Patients with sporadic Inclusion Body Myositis. ( 28493327 )
2017
28
Immune and myodegenerative pathomechanisms in inclusion body myositis. ( 28589170 )
2017
29
A case of inclusion body myositis complicated by microscopic polyangiitis. ( 28726537 )
2017
30
Follistatin Gene Therapy for Sporadic Inclusion Body Myositis Improves Functional Outcomes. ( 28279643 )
2017
31
Cytosolic 5'-nucleotidase 1A autoantibody profile and clinical characteristics in inclusion body myositis. ( 28122761 )
2017
32
Comparison of serum rAAV serotype-specific antibodies in patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis or GNE myopathy. ( 28042944 )
2017
33
A Case of Asymptomatic Inclusion Body Myositis. ( 28221303 )
2017
34
Inclusion Body Myositis: A Case Presenting with Respiratory Failure and Autopsy Findings Leading to the Hypothesis of a Paraneoplastic Cause. ( 28642454 )
2017
35
Unfounded Claims of Improved Functional Outcomes Attributed to Follistatin Gene Therapy in Inclusion Body Myositis. ( 28927986 )
2017
36
Botulinum toxin alleviates dysphagia of patients with inclusion body myositis. ( 28870555 )
2017
37
Transcriptional profiling identifies differential expression of long non-coding RNAs in Jo-1 associated and inclusion body myositis. ( 28808260 )
2017
38
A rare association of anti-alanine-transfer RNA synthetase (anti-PL12) syndrome and sporadic inclusion body myositis. ( 28780890 )
2017
39
Fist sign in inclusion body myositis. ( 28215761 )
2017
40
Cytokine Profiling of Serum Allows Monitoring of Disease Progression in Inclusion Body Myositis. ( 29172005 )
2017
41
Sarcoidosis: Is It a Possible Trigger of Inclusion Body Myositis? ( 28523201 )
2017
42
How can we pay the piper? Inclusion body myositis and the high price of a longer life. ( 28719726 )
2017
43
A Systematic Review and Meta-Analysis ofA Prevalence Studies of Sporadic Inclusion Body Myositis. ( 28505979 )
2017
44
Clinical and Electrophysiological Findings in Hereditary Inclusion Body Myopathy Compared With Sporadic Inclusion Body Myositis. ( 27224433 )
2016
45
Modeling functional decline over time in sporadic inclusion body myositis. ( 27511790 )
2016
46
Intramuscular dissociation of echogenicity in the triceps surae characterizes sporadic inclusion body myositis. ( 26706399 )
2016
47
Inclusion body myositis and anesthesia: a case series. ( 27185728 )
2016
48
Sporadic Inclusion Body Myositis Manifesting as Isolated Muscle Weakness of the Finger Flexors Three Years after Disease Onset. ( 27904121 )
2016
49
Neuromuscular ultrasound in the evaluation of inclusion body myositis. ( 27797863 )
2016
50
Diagnostic criteria for inclusion body myositis. ( 27027255 )
2016

Variations for Inclusion Body Myositis

ClinVar genetic disease variations for Inclusion Body Myositis:

6
(show top 50) (show all 326)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNE NM_001128227.2(GNE): c.2228T> C (p.Met743Thr) single nucleotide variant Pathogenic rs28937594 GRCh37 Chromosome 9, 36217396: 36217396
2 GNE NM_001128227.2(GNE): c.2228T> C (p.Met743Thr) single nucleotide variant Pathogenic rs28937594 GRCh38 Chromosome 9, 36217399: 36217399
3 GNE NM_005476.5(GNE): c.2086G> A (p.Val696Met) single nucleotide variant Pathogenic/Likely pathogenic rs121908627 GRCh37 Chromosome 9, 36217445: 36217445
4 GNE NM_005476.5(GNE): c.2086G> A (p.Val696Met) single nucleotide variant Pathogenic/Likely pathogenic rs121908627 GRCh38 Chromosome 9, 36217448: 36217448
5 GNE NM_001128227.2(GNE): c.830G> A (p.Arg277Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908629 GRCh37 Chromosome 9, 36236861: 36236861
6 GNE NM_001128227.2(GNE): c.830G> A (p.Arg277Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908629 GRCh38 Chromosome 9, 36236864: 36236864
7 GNE NM_005476.5(GNE): c.1714G> C (p.Val572Leu) single nucleotide variant Pathogenic rs121908632 GRCh37 Chromosome 9, 36219937: 36219937
8 GNE NM_005476.5(GNE): c.1714G> C (p.Val572Leu) single nucleotide variant Pathogenic rs121908632 GRCh38 Chromosome 9, 36219940: 36219940
9 GNE NM_001128227.2(GNE): c.1985C> T (p.Ala662Val) single nucleotide variant Pathogenic rs62541771 GRCh37 Chromosome 9, 36218221: 36218221
10 GNE NM_001128227.2(GNE): c.1985C> T (p.Ala662Val) single nucleotide variant Pathogenic rs62541771 GRCh38 Chromosome 9, 36218224: 36218224
11 MYH2 NM_017534.5(MYH2): c.2116G> A (p.Glu706Lys) single nucleotide variant Pathogenic rs121434589 GRCh37 Chromosome 17, 10438454: 10438454
12 MYH2 NM_017534.5(MYH2): c.2116G> A (p.Glu706Lys) single nucleotide variant Pathogenic rs121434589 GRCh38 Chromosome 17, 10535137: 10535137
13 GNE NM_005476.5(GNE): c.527A> T (p.Asp176Val) single nucleotide variant Pathogenic/Likely pathogenic rs139425890 GRCh37 Chromosome 9, 36246117: 36246117
14 GNE NM_005476.5(GNE): c.527A> T (p.Asp176Val) single nucleotide variant Pathogenic/Likely pathogenic rs139425890 GRCh38 Chromosome 9, 36246120: 36246120
15 GNE NM_001128227.2(GNE): c.804G> A (p.Leu268=) single nucleotide variant Uncertain significance rs724159957 GRCh37 Chromosome 9, 36236887: 36236887
16 GNE NM_001128227.2(GNE): c.804G> A (p.Leu268=) single nucleotide variant Uncertain significance rs724159957 GRCh38 Chromosome 9, 36236890: 36236890
17 MYH2 NM_017534.5(MYH2): c.5609T> C (p.Leu1870Pro) single nucleotide variant Pathogenic rs786201023 GRCh38 Chromosome 17, 10523154: 10523154
18 MYH2 NM_017534.5(MYH2): c.5609T> C (p.Leu1870Pro) single nucleotide variant Pathogenic rs786201023 GRCh37 Chromosome 17, 10426471: 10426471
19 MYH2 NM_017534.5(MYH2): c.904+1G> A single nucleotide variant Pathogenic rs879255253 GRCh37 Chromosome 17, 10446191: 10446191
20 MYH2 NM_017534.5(MYH2): c.904+1G> A single nucleotide variant Pathogenic rs879255253 GRCh38 Chromosome 17, 10542874: 10542874
21 MYH2 NM_017534.5(MYH2): c.2347C> T (p.Arg783Ter) single nucleotide variant Pathogenic rs762121316 GRCh38 Chromosome 17, 10533379: 10533379
22 MYH2 NM_017534.5(MYH2): c.2347C> T (p.Arg783Ter) single nucleotide variant Pathogenic rs762121316 GRCh37 Chromosome 17, 10436696: 10436696
23 MYH2 NM_017534.5(MYH2): c.1975-2A> G single nucleotide variant Pathogenic rs746770617 GRCh37 Chromosome 17, 10438684: 10438684
24 MYH2 NM_017534.5(MYH2): c.1975-2A> G single nucleotide variant Pathogenic rs746770617 GRCh38 Chromosome 17, 10535367: 10535367
25 MYH2 NM_017534.5(MYH2): c.2405T> A (p.Leu802Ter) single nucleotide variant Pathogenic rs758395765 GRCh37 Chromosome 17, 10436638: 10436638
26 MYH2 NM_017534.5(MYH2): c.2405T> A (p.Leu802Ter) single nucleotide variant Pathogenic rs758395765 GRCh38 Chromosome 17, 10533321: 10533321
27 MYH2 NM_017534.5(MYH2): c.2400delG (p.Phe801Serfs) deletion Pathogenic rs879255254 GRCh37 Chromosome 17, 10436643: 10436643
28 MYH2 NM_017534.5(MYH2): c.2400delG (p.Phe801Serfs) deletion Pathogenic rs879255254 GRCh38 Chromosome 17, 10533326: 10533326
29 MYH2 NM_017534.5(MYH2): c.706G> A (p.Ala236Thr) single nucleotide variant Pathogenic rs147708782 GRCh37 Chromosome 17, 10447063: 10447063
30 MYH2 NM_017534.5(MYH2): c.706G> A (p.Ala236Thr) single nucleotide variant Pathogenic rs147708782 GRCh38 Chromosome 17, 10543746: 10543746
31 MYH2 NM_017534.5(MYH2): c.533C> T (p.Thr178Ile) single nucleotide variant Pathogenic rs756953958 GRCh37 Chromosome 17, 10447417: 10447417
32 MYH2 NM_017534.5(MYH2): c.533C> T (p.Thr178Ile) single nucleotide variant Pathogenic rs756953958 GRCh38 Chromosome 17, 10544100: 10544100
33 GNE NM_005476.5(GNE): c.1760T> C (p.Ile587Thr) single nucleotide variant Pathogenic/Likely pathogenic rs748949603 GRCh37 Chromosome 9, 36219891: 36219891
34 GNE NM_005476.5(GNE): c.1760T> C (p.Ile587Thr) single nucleotide variant Pathogenic/Likely pathogenic rs748949603 GRCh38 Chromosome 9, 36219894: 36219894
35 GNE NM_005476.5(GNE): c.1306C> T (p.Gln436Ter) single nucleotide variant Likely pathogenic rs786204558 GRCh38 Chromosome 9, 36223478: 36223478
36 GNE NM_005476.5(GNE): c.1306C> T (p.Gln436Ter) single nucleotide variant Likely pathogenic rs786204558 GRCh37 Chromosome 9, 36223475: 36223475
37 GNE NM_005476.5(GNE): c.829C> T (p.Arg277Cys) single nucleotide variant Pathogenic/Likely pathogenic rs762106720 GRCh38 Chromosome 9, 36234073: 36234073
38 GNE NM_005476.5(GNE): c.829C> T (p.Arg277Cys) single nucleotide variant Pathogenic/Likely pathogenic rs762106720 GRCh37 Chromosome 9, 36234070: 36234070
39 GNE NM_005476.5(GNE): c.612G> A (p.Trp204Ter) single nucleotide variant Likely pathogenic rs786204476 GRCh37 Chromosome 9, 36246032: 36246032
40 GNE NM_005476.5(GNE): c.612G> A (p.Trp204Ter) single nucleotide variant Likely pathogenic rs786204476 GRCh38 Chromosome 9, 36246035: 36246035
41 GNE NM_001128227.2(GNE): c.479G> A (p.Arg160Gln) single nucleotide variant Pathogenic/Likely pathogenic rs748704459 GRCh37 Chromosome 9, 36246258: 36246258
42 GNE NM_001128227.2(GNE): c.479G> A (p.Arg160Gln) single nucleotide variant Pathogenic/Likely pathogenic rs748704459 GRCh38 Chromosome 9, 36246261: 36246261
43 GNE NM_001128227.2(GNE): c.2179G> T (p.Val727Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs121908627 GRCh37 Chromosome 9, 36217445: 36217445
44 GNE NM_001128227.2(GNE): c.2179G> T (p.Val727Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs121908627 GRCh38 Chromosome 9, 36217448: 36217448
45 MYH2 NM_017534.5(MYH2): c.2106C> T (p.Asn702=) single nucleotide variant Benign rs145039915 GRCh37 Chromosome 17, 10438464: 10438464
46 MYH2 NM_017534.5(MYH2): c.2106C> T (p.Asn702=) single nucleotide variant Benign rs145039915 GRCh38 Chromosome 17, 10535147: 10535147
47 GNE NM_001128227.2(GNE): c.79C> T (p.Arg27Ter) single nucleotide variant Pathogenic rs794727279 GRCh37 Chromosome 9, 36249367: 36249367
48 GNE NM_001128227.2(GNE): c.79C> T (p.Arg27Ter) single nucleotide variant Pathogenic rs794727279 GRCh38 Chromosome 9, 36249370: 36249370
49 MYH2 NM_017534.5(MYH2): c.2295G> A (p.Gly765=) single nucleotide variant Benign rs79757188 GRCh37 Chromosome 17, 10436835: 10436835
50 MYH2 NM_017534.5(MYH2): c.2295G> A (p.Gly765=) single nucleotide variant Benign rs79757188 GRCh38 Chromosome 17, 10533518: 10533518

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 9.36 APOE APP MIR146B MIR155 MIR197 MIR21
2 main axon GO:0044304 8.96 APP MAPT

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

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.94 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 9.83 MIR21 MIR214 MIR34A
4 negative regulation of angiogenesis GO:0016525 9.81 MIR21 MIR214 MIR222 MIR34A
5 negative regulation of inflammatory response GO:0050728 9.8 APOE MIR155 MIR221 MIR222
6 negative regulation of gene expression GO:0010629 9.8 APOE APP MAPT MIR155 MIR21
7 miRNA mediated inhibition of translation GO:0035278 9.79 MIR21 MIR221 MIR222
8 positive regulation of epithelial to mesenchymal transition GO:0010718 9.75 MIR21 MIR221 MIR222
9 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.74 MIR146B MIR155 MIR221
10 negative regulation of vascular smooth muscle cell proliferation GO:1904706 9.7 MIR214 MIR223 MIR34A
11 positive regulation of cardiac muscle hypertrophy GO:0010613 9.66 MIR155 MIR21
12 positive regulation of vascular associated smooth muscle cell migration GO:1904754 9.66 MIR21 MIR221
13 response to lead ion GO:0010288 9.65 APP MAPT
14 negative regulation of cytokine production involved in inflammatory response GO:1900016 9.65 MIR221 MIR222
15 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.64 MIR155 MIR214
16 virion assembly GO:0019068 9.63 APOE RPS27A
17 amyloid fibril formation GO:1990000 9.62 APP MAPT
18 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.62 MIR21 MIR214 MIR221 MIR222
19 negative regulation of long-term synaptic potentiation GO:1900272 9.61 APOE APP
20 astrocyte activation GO:0048143 9.61 APP MAPT
21 positive regulation of axon regeneration GO:0048680 9.6 MIR221 MIR222
22 negative regulation by host of viral genome replication GO:0044828 9.59 MIR221 MIR222
23 negative regulation of regulatory T cell differentiation GO:0045590 9.58 MIR155 MIR21
24 positive regulation of amyloid fibril formation GO:1905908 9.56 APOE APP
25 negative regulation of vascular wound healing GO:0061044 9.55 MIR155 MIR34A
26 negative regulation of TRAIL-activated apoptotic signaling pathway GO:1903122 9.54 MIR221 MIR222
27 positive regulation of connective tissue replacement GO:1905205 9.54 MIR155 MIR214 MIR34A
28 positive regulation of Schwann cell migration GO:1900149 9.48 MIR221 MIR222
29 negative regulation of hematopoietic stem cell proliferation GO:1902034 9.46 MIR221 MIR222
30 positive regulation of Schwann cell proliferation involved in axon regeneration GO:1905046 9.43 MIR221 MIR222
31 negative regulation of leukocyte adhesion to vascular endothelial cell GO:1904995 9.43 MIR155 MIR221 MIR222
32 negative regulation of cell adhesion molecule production GO:0060354 9.33 MIR155 MIR221 MIR222
33 negative regulation of vascular associated smooth muscle cell migration GO:1904753 9.26 MIR21 MIR214 MIR223 MIR34A
34 gene silencing by miRNA GO:0035195 9.23 MIR146B MIR155 MIR21 MIR214 MIR221 MIR222

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
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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