MCID: INC002
MIFTS: 64

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 53 12 49 50 55 36 28 14 69
Inclusion Body Myopathy, Autosomal Recessive 49 24 13 69
Hereditary Inclusion Body Myopathy 12 72 49 24
Inclusion Body Myopathy 2 12 49 24 28
Inclusion Body Myopathy 3 12 49 36 28
Nonaka Myopathy 12 49 24 69
Distal Myopathy with Rimmed Vacuoles 12 49 24
Sporadic Inclusion Body Myositis 49 55 51
Hibm 12 49 24
Ibm2 12 49 24
Ibm 53 49 55
Inclusion Body Myopathy, Quadriceps-Sparing 49 24
Myositis, Inclusion Body 72 41
Rimmed Vacuole Myopathy 49 24
Dmrv 49 24
Qsm 49 24
Myopathy with Congenital Joint Contractures, Ophthalmoplegia, and Rimmed Vacuoles 49
Hereditary Inclusion Body Myopathy - Joint Contractures - Ophthalmoplegia 49
Inclusion Body Myopathy, Autosomal Dominant 69
Inclusion Body Myopathy Autosomal Dominant 49
Hereditary Inclusion Body Myopathy Type 3 49
Inclusion Body Myopathy, Sporadic 69
Distal Myopathy, Nonaka Type 12
Quadriceps Sparing Myopathy 49
Inflammatory Myopathies 50
Myositis Inclusion Body 51
Inflammatory Myopathy 49
Gne Myopathy 49
Myositis 69
Ibm-3 12
Hibm3 49
Ibm3 49
Sibm 55

Characteristics:

Orphanet epidemiological data:

55
inclusion body myositis
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

53
Miscellaneous:
variable phenotype
slowly progressive
most common muscle disease of older persons

Inheritance:
isolated cases


HPO:

31
inclusion body myositis:
Onset and clinical course phenotypic variability slow progression
Inheritance autosomal dominant inheritance sporadic


Classifications:



External Ids:

OMIM 53 147421
Disease Ontology 12 DOID:3429
ICD10 32 G72.41
ICD9CM 34 359.71
MeSH 41 D018979
NCIt 46 C84786
SNOMED-CT 64 72315009
Orphanet 55 ORPHA611
UMLS via Orphanet 70 C0238190 C0751713
ICD10 via Orphanet 33 M60.8
MedGen 39 C0238190

Summaries for Inclusion Body Myositis

NINDS : 50 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, autosomal recessive, is related to gne-related myopathy and nonaka myopathy, and has symptoms including myalgia, quadriceps muscle weakness and feeding difficulties in infancy. 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 phenotype is muscle.

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 : 24 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 : 49 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. Last updated: 1/13/2014

OMIM : 53 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)

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 128)
# Related Disease Score Top Affiliating Genes
1 gne-related myopathy 32.9 GNE SQSTM1
2 nonaka myopathy 32.8 GNE SQSTM1
3 myopathy 32.2 GNE MSTN MYH2 PABPN1 SQSTM1 VCP
4 myositis 31.8 APP BACE1 GNE HLA-DRB1 MAPT MSTN
5 creutzfeldt-jakob disease 30.3 APOE MAPT SERPINA3
6 alzheimer disease 30.3 APOE APP BACE1 COX5A MAPT SERPINA3
7 motor neuron disease 30.1 MAPT RPS27A SQSTM1 TARDBP VCP
8 amyloidosis 30.0 APOE APP BACE1
9 amyotrophic lateral sclerosis 1 30.0 APP MAPT RPS27A SQSTM1 TARDBP VCP
10 hereditary inclusion body myopathy type 4 12.2
11 myopathy, distal, with rimmed vacuoles 11.6
12 polymyositis 11.5
13 idiopathic inflammatory myopathy 11.4
14 welander distal myopathy, swedish type 11.4
15 myopathy, proximal, and ophthalmoplegia 11.4
16 senile plaque formation 10.6 APOE APP
17 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.6 MAPT RPS27A
18 posterior cortical atrophy 10.6 APOE MAPT
19 familial idiopathic basal ganglia calcification 10.6 APOE APP MAPT
20 progressive non-fluent aphasia 10.6 MAPT VCP
21 binswanger's disease 10.6 APOE APP MAPT
22 leukoencephalopathy, hereditary diffuse, with spheroids 10.6 APP MAPT RPS27A
23 behavioral variant of frontotemporal dementia 10.5 MAPT SQSTM1 VCP
24 aphasia 10.5 APOE APP MAPT
25 corticobasal degeneration 10.5 MAPT RPS27A TARDBP
26 postpoliomyelitis syndrome 10.5 TARDBP VCP
27 nominal aphasia 10.5 MAPT TARDBP VCP
28 synucleinopathy 10.5 APP MAPT RPS27A
29 oculopharyngodistal myopathy 10.5 GNE PABPN1
30 alzheimer disease 2 10.5 APOE APP MAPT SERPINA3
31 cerebral amyloid angiopathy, cst3-related 10.5 APOE APP BACE1 MAPT
32 semantic dementia 10.5 APOE MAPT RPS27A TARDBP
33 inclusion body myopathy with paget disease of bone and frontotemporal dementia 10.5 GNE TARDBP VCP
34 vascular dementia 10.5 APOE APP MAPT SERPINA3
35 alexia 10.5 APOE TARDBP
36 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 10.5 SQSTM1 TARDBP VCP
37 dermatomyositis 10.4
38 speech and communication disorders 10.4 APOE MAPT TARDBP
39 disease of mental health 10.4 APOE APP BACE1 MAPT
40 gait apraxia 10.4 APOE APP
41 basal ganglia disease 10.4 MAPT SQSTM1 TARDBP VCP
42 dysphagia 10.4
43 aging 10.4
44 supranuclear palsy, progressive, 1 10.4 APOE APP MAPT RPS27A TARDBP
45 dementia, lewy body 10.4 APOE APP MAPT RPS27A TARDBP
46 muscle tissue disease 10.3 GNE MSTN PABPN1
47 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
48 parkinson disease, late-onset 10.3 APOE APP MAPT RPS27A SQSTM1
49 opsoclonus-myoclonus syndrome 10.3 CXCL9 CXCR3
50 pick disease of brain 10.2 APOE APP MAPT RPS27A SQSTM1 TARDBP

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:

53
Abdomen Gastroin testinal:
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:

55 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myalgia 55 31 occasional (7.5%) Occasional (29-5%) HP:0003326
2 quadriceps muscle weakness 55 31 hallmark (90%) Very frequent (99-80%) HP:0003731
3 feeding difficulties in infancy 55 31 frequent (33%) Frequent (79-30%) HP:0008872
4 elevated serum creatine phosphokinase 55 31 hallmark (90%) Very frequent (99-80%) HP:0003236
5 emg abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0003457
6 skeletal muscle atrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0003202
7 autoimmunity 55 31 hallmark (90%) Very frequent (99-80%) HP:0002960
8 reduced tendon reflexes 55 31 frequent (33%) Frequent (79-30%) HP:0001315
9 ragged-red muscle fibers 55 31 hallmark (90%) Very frequent (99-80%) HP:0003200
10 proximal muscle weakness 55 31 Very frequent (99-80%) HP:0003701
11 inflammatory myopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0009071
12 rimmed vacuoles 55 31 hallmark (90%) Very frequent (99-80%) HP:0003805
13 dysphagia 31 HP:0002015
14 hyporeflexia 31 HP:0001265
15 abnormality of muscle fibers 55 Very frequent (99-80%)
16 distal muscle weakness 31 HP:0002460

UMLS symptoms related to Inclusion Body Myositis:


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

MGI Mouse Phenotypes related to Inclusion Body Myositis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 TARDBP VCP APOE APP BACE1 GNE

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 46835353 6436030 5284616
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
15 Antibodies, Blocking Phase 3,Phase 2
16 Antibodies, Monoclonal Phase 3,Phase 2
17 Immunoglobulins Phase 3,Phase 2
18 Pharmaceutical Solutions Phase 2, Phase 3
19 Interleukin 1 Receptor Antagonist Protein Phase 2, Phase 3
20 Dermatologic Agents Phase 2, 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
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 53)

# 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 Efficacy, Safety and Tolerability of BYM338 in Patients With Sporadic Inclusion Body Myositis Completed NCT01423110 Phase 2
13 Intravenousimmunoglobulin (IVIg) for the Treatment of Inflammatory Myopathies Completed NCT00001261 Phase 2 Gamma Globulin
14 Alemtuzumab to Treat Sporadic Inclusion Body Myositis Completed NCT00079768 Phase 2 Alemtuzumab (Campath)
15 Rituximab for the Treatment of Refractory Inflammatory Myopathies and Refractory Myasthenia Gravis Completed NCT00774462 Phase 2 Rituximab
16 Rituximab for the Treatment of Refractory Adult and Juvenile Dermatomyositis (DM) and Adult Polymyositis (PM) Completed NCT00106184 Phase 2 Rituximab;Placebo
17 Study of Arimoclomol in Inclusion Body Myositis (IBM) Recruiting NCT02753530 Phase 2 Arimoclomol
18 Sodium Thiosulfate for Treatment of Calcinosis Associated With Juvenile and Adult Dermatomyositis Recruiting NCT03267277 Phase 2 Sodium Thiosulfate
19 Efficacy and Tolerability of BAF312 in Patients With Polymyositis Terminated NCT01801917 Phase 2 Placebo;BAF312
20 Follistatin Gene Transfer to Patients With Becker Muscular Dystrophy and Sporadic Inclusion Body Myositis Completed NCT01519349 Phase 1
21 A Pilot Study of Etanercept in Dermatomyositis Completed NCT00112385 Phase 1 Etanercept;Placebo
22 Natalizumab in Inclusion Body Myositis (IBM) Active, not recruiting NCT02483845 Phase 1 Natalizumab
23 Study of Pioglitazone in Sporadic Inclusion Body Myositis Not yet recruiting NCT03440034 Phase 1 Pioglitazone
24 Stem Cell Transplantation in Idiopathic Inflammatory Myopathy Diseases Terminated NCT00278564 Phase 1
25 A Case-control Study to Assess Risk of Coronary Heart Disease in Idiopathic Inflammatory Myopathy Unknown status NCT00971828
26 Blood-flow Restricted Exercise in Inclusion Body Myositis Completed NCT02317094 Care as usual
27 Double-blind, Randomized, Placebo-controlled Trial of Etanercept for 12 Months in Subjects With Inclusion Body Myositis Completed NCT00802815 Early Phase 1 Etanercept
28 Muscle Strength and Inflammatory Response in Patients With Inclusion Body Myositis Completed NCT00898989
29 Lithium in Inclusion Body Myositis (IBM) Completed NCT00917956
30 Immune Abnormalities in Sporadic Inclusion Body Myositis Completed NCT00030212
31 Epidemiological Study of Inflammatory Myopathies in a French Region Completed NCT02881450
32 Diagnostic Accuracy of Whole Body Magnetic Resonance Imaging in Inflammatory Myopathies Completed NCT01432613
33 myoARRAY and TcLandscape Analysis for the Diagnosis of Inflammatory Myopathies Completed NCT00213629
34 Studies of the Natural History and Pathogenesis of Autoimmune/Connective Tissue Diseases Completed NCT00341679
35 Auto-immune Diseases and Quality of Life Completed NCT02855840
36 Natural History in CCFDN and IBM Syndromes Completed NCT01902940
37 Molecular Profile of the Evolution of Inclusion Body Myositis Recruiting NCT03299335
38 Optimizing Treatment on Idiopathic Inflammatory Myopathies Recruiting NCT03092180 Intravenous Infusion
39 Physical Training in Patients With Idiopathic Inflammatory Myopathies Recruiting NCT03092167
40 MYOPROSP - a Prospective Cohort Study in Myositis Recruiting NCT02468895
41 Adult and Juvenile Myositis Recruiting NCT00017914
42 Investigating Genes in Patients With Polymyositis and Dermatomyositis Recruiting NCT01171573
43 Environmental Risk Factors for Myositis in Military Personnel Recruiting NCT01734369
44 Study and Treatment of Inflammatory Muscle Diseases Recruiting NCT00001265
45 Lipid-lowering Agents in Patients With Dermatomyositis and Polymyositis Recruiting NCT03092154 Lipid-lowering agents (Artovastatin)
46 Juvenile Dermatomyositis Recruiting NCT03433638
47 Acceptance and Commitment Therapy for Muscle Disease Recruiting NCT02810028
48 Incidence and Prevalence of Juvenile Dermatomyositis Recruiting NCT03432455
49 Study of Families With Twins or Siblings Discordant for Rheumatic Disorders Recruiting NCT00055055
50 Pharmacoepidemiologic General Research Extension: PGRx-sIBM Study Not yet recruiting NCT02735447

Search NIH Clinical Center for Inclusion Body Myositis

Inferred drug relations via UMLS 69 / NDF-RT 47 :


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 28 GNE
2 Inclusion Body Myopathy 3 28 MYH2
3 Inclusion Body Myositis 28

Anatomical Context for Inclusion Body Myositis

MalaCards organs/tissues related to Inclusion Body Myositis:

38
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 623)
# Title Authors Year
1
Inclusion body myositis and human immunodeficiency virus type 1: A new case report and literature review. ( 29426734 )
2018
2
Immune and myodegenerative pathomechanisms in inclusion body myositis. ( 28589170 )
2017
3
Cytokine Profiling of Serum Allows Monitoring of Disease Progression in Inclusion Body Myositis. ( 29172005 )
2017
4
Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases. ( 28857524 )
2017
5
Fist sign in inclusion body myositis. ( 28215761 )
2017
6
A Systematic Review and Meta-Analysis ofA Prevalence Studies of Sporadic Inclusion Body Myositis. ( 28505979 )
2017
7
Unfounded Claims of Improved Functional Outcomes Attributed to Follistatin Gene Therapy in Inclusion Body Myositis. ( 28927986 )
2017
8
Sarcoidosis: Is It a Possible Trigger of Inclusion Body Myositis? ( 28523201 )
2017
9
Botulinum toxin alleviates dysphagia of patients with inclusion body myositis. ( 28870555 )
2017
10
Overlapping features of polymyositis and inclusion body myositis in HIV-infected patients. ( 28283597 )
2017
11
A case of inclusion body myositis complicated by microscopic polyangiitis. ( 28726537 )
2017
12
A Case of Asymptomatic Inclusion Body Myositis. ( 28221303 )
2017
13
How can we pay the piper? Inclusion body myositis and the high price of a longer life. ( 28719726 )
2017
14
A rare association of anti-alanine-transfer RNA synthetase (anti-PL12) syndrome and sporadic inclusion body myositis. ( 28780890 )
2017
15
Genetics in inclusion body myositis. ( 28777108 )
2017
16
Sporadic Inclusion Body Myositis: MRI Findings and Correlation With Clinical and Functional Parameters. ( 28952813 )
2017
17
Association study reveals novel risk loci for sporadic inclusion body myositis. ( 28233382 )
2017
18
Burden of Illness and Healthcare Resource Use in US Patients with sporadic Inclusion Body Myositis. ( 28493327 )
2017
19
Follistatin Gene Therapy for Sporadic Inclusion Body Myositis Improves Functional Outcomes. ( 28279643 )
2017
20
Pathomechanisms of anti-cytosolic 5'-nucleotidase 1A autoantibodies in sporadic inclusion body myositis. ( 28318044 )
2017
21
The role of p62/SQSTM1 in sporadic inclusion body myositis. ( 28159418 )
2017
22
Sporadic inclusion body myositis - a myodegenerative disease or an inflammatory myopathy. ( 28111778 )
2017
23
Five-year history of dysphagia as a sole initial symptom in inclusion body myositis. ( 28991709 )
2017
24
Comparison of serum rAAV serotype-specific antibodies in patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis or GNE myopathy. ( 28042944 )
2017
25
Transcriptional profiling identifies differential expression of long non-coding RNAs in Jo-1 associated and inclusion body myositis. ( 28808260 )
2017
26
Physical function and muscle strength in sporadic inclusion body myositis. ( 28187529 )
2017
27
Calcium dysregulation, functional calpainopathy, and endoplasmic reticulum stress in sporadic inclusion body myositis. ( 28330496 )
2017
28
Immune-array Analysis in Sporadic Inclusion Body Myositis Reveals HLA-DRB1 Amino Acid Heterogeneity across the Myositis Spectrum. ( 28086002 )
2017
29
Cytosolic 5'-nucleotidase 1A autoantibody profile and clinical characteristics in inclusion body myositis. ( 28122761 )
2017
30
Inclusion body myositis: advancements in diagnosis, pathomechanisms, and treatment. ( 28832349 )
2017
31
Inclusion Body Myositis: A Case Presenting with Respiratory Failure and Autopsy Findings Leading to the Hypothesis of a Paraneoplastic Cause. ( 28642454 )
2017
32
Inclusion body myositis pathogenesis: Steady progress. ( 28318035 )
2017
33
Multicenter questionnaire survey for sporadic inclusion body myositis in Japan. ( 27821140 )
2016
34
Mortality and Causes of Death in Patients with Sporadic Inclusion Body Myositis: Survey Study Based on the Clinical Experience of Specialists in Australia, Europe and the USA. ( 27854208 )
2016
35
Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis. ( 27594680 )
2016
36
Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis. ( 27131788 )
2016
37
Targeting protein homeostasis in sporadic inclusion body myositis. ( 27009270 )
2016
38
Efficacy of immunosuppressive treatment in a systemic lupus erythematosus patient presenting with inclusion body myositis. ( 27048400 )
2016
39
Mitochondrial DNA disturbances and deregulated expression of oxidative phosphorylation and mitochondrial fusion proteins in sporadic inclusion body myositis. ( 27413019 )
2016
40
Inclusion Body Myositis: What Most Impacts Patients' Lives. ( 27861218 )
2016
41
Association of inclusion body myositis with T cell large granular lymphocytic leukaemia. ( 26920676 )
2016
42
Botulinum toxin and rehabilitation treatment in inclusion body myositis for severe oropharyngeal dysphagia. ( 27098244 )
2016
43
Sporadic inclusion-body myositis: Recent advances and the state of the art in 2016. ( 27616487 )
2016
44
Development and evaluation of a standardized ELISA for the determination of autoantibodies against cN-1A (Mup44, NT5C1A) in sporadic inclusion body myositis. ( 27858337 )
2016
45
Epidemiology of sporadic inclusion body myositis. ( 27541181 )
2016
46
Inclusion Body Myositis. ( 27922498 )
2016
47
Molecular events linking cholesterol to Alzheimer's disease and inclusion body myositis in a rabbit model. ( 27073745 )
2016
48
Development of the sporadic inclusion body myositis physical functioning assessment (sIFA). ( 26872556 )
2016
49
Cytotoxic T cells go awry in inclusion body myositis. ( 27189577 )
2016
50
Psychometric validation of a patient-reported measure of physical functioning in sporadic inclusion body myositis. ( 26872636 )
2016

Variations for Inclusion Body Myositis

ClinVar genetic disease variations for Inclusion Body Myositis:

6 (show all 35)
# Gene Variation Type Significance SNP ID Assembly Location
1 SQSTM1 NM_003900.4(SQSTM1): c.970_1165del single nucleotide variant Pathogenic rs796051870 GRCh38 Chromosome 5, 179833783: 179833783
2 MYH2 NM_017534.5(MYH2): c.2116G> A (p.Glu706Lys) single nucleotide variant Pathogenic rs121434589 GRCh37 Chromosome 17, 10438454: 10438454
3 GNE NM_005476.5(GNE): c.527A> T (p.Asp176Val) single nucleotide variant Pathogenic/Likely pathogenic rs139425890 GRCh37 Chromosome 9, 36246117: 36246117
4 MYH2 NM_017534.5(MYH2): c.533C> T (p.Thr178Ile) single nucleotide variant Pathogenic rs756953958 GRCh38 Chromosome 17, 10544100: 10544100
5 MYH2 NM_017534.5(MYH2): c.5609T> C (p.Leu1870Pro) single nucleotide variant Pathogenic rs786201023 GRCh38 Chromosome 17, 10523154: 10523154
6 MYH2 NM_017534.5(MYH2): c.904+1G> A single nucleotide variant Pathogenic rs879255253 GRCh38 Chromosome 17, 10542874: 10542874
7 MYH2 NM_017534.5(MYH2): c.2347C> T (p.Arg783Ter) single nucleotide variant Pathogenic rs762121316 GRCh38 Chromosome 17, 10533379: 10533379
8 MYH2 NM_017534.5(MYH2): c.1975-2A> G single nucleotide variant Pathogenic rs746770617 GRCh37 Chromosome 17, 10438684: 10438684
9 MYH2 NM_017534.5(MYH2): c.2405T> A (p.Leu802Ter) single nucleotide variant Pathogenic rs758395765 GRCh37 Chromosome 17, 10436638: 10436638
10 MYH2 NM_017534.5(MYH2): c.2400delG (p.Phe801Serfs) deletion Pathogenic rs879255254 GRCh38 Chromosome 17, 10533326: 10533326
11 MYH2 NM_017534.5(MYH2): c.706G> A (p.Ala236Thr) single nucleotide variant Pathogenic rs147708782 GRCh37 Chromosome 17, 10447063: 10447063
12 GNE NM_005476.5(GNE): c.1760T> C (p.Ile587Thr) single nucleotide variant Pathogenic/Likely pathogenic rs748949603 GRCh37 Chromosome 9, 36219891: 36219891
13 GNE NM_001128227.2(GNE): c.479G> A (p.Arg160Gln) single nucleotide variant Pathogenic/Likely pathogenic rs748704459 GRCh37 Chromosome 9, 36246258: 36246258
14 GNE NM_001128227.2(GNE): c.829C> T (p.Arg277Trp) single nucleotide variant Pathogenic rs773729410 GRCh37 Chromosome 9, 36236862: 36236862
15 GNE NM_001128227.2(GNE): c.2228T> C (p.Met743Thr) single nucleotide variant Pathogenic rs28937594 GRCh37 Chromosome 9, 36217396: 36217396
16 GNE NM_001128227.2(GNE): c.1820G> A (p.Gly607Glu) single nucleotide variant Pathogenic rs121908625 GRCh37 Chromosome 9, 36219924: 36219924
17 GNE NM_001190383.1(GNE): c.1669G> A (p.Ala557Thr) single nucleotide variant Pathogenic rs121908626 GRCh37 Chromosome 9, 36218222: 36218222
18 GNE NM_005476.5(GNE): c.2086G> A (p.Val696Met) single nucleotide variant Pathogenic/Likely pathogenic rs121908627 GRCh37 Chromosome 9, 36217445: 36217445
19 GNE NM_001128227.2(GNE): c.1002T> A (p.Cys334Ter) single nucleotide variant Pathogenic rs121908628 GRCh37 Chromosome 9, 36233990: 36233990
20 GNE NM_001128227.2(GNE): c.830G> A (p.Arg277Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908629 GRCh37 Chromosome 9, 36236861: 36236861
21 GNE NM_001128227.2(GNE): c.766G> A (p.Asp256Asn) single nucleotide variant Pathogenic rs121908630 GRCh37 Chromosome 9, 36236925: 36236925
22 GNE NM_005476.5(GNE): c.1714G> C (p.Val572Leu) single nucleotide variant Pathogenic rs121908632 GRCh37 Chromosome 9, 36219937: 36219937
23 GNE NM_001128227.2(GNE): c.1000_1001delTGinsGT (p.Cys334Val) indel Pathogenic rs121908633 GRCh37 Chromosome 9, 36233991: 36233992
24 GNE NM_001128227.2(GNE): c.1985C> T (p.Ala662Val) single nucleotide variant Pathogenic rs62541771 GRCh37 Chromosome 9, 36218221: 36218221
25 GNE NM_001128227.2(GNE): c.604A> G (p.Met202Val) single nucleotide variant Pathogenic rs121908634 GRCh37 Chromosome 9, 36246133: 36246133
26 GNE NM_001128227.2(GNE): c.740T> C (p.Val247Ala) single nucleotide variant Pathogenic/Likely pathogenic rs779694939 GRCh38 Chromosome 9, 36236954: 36236954
27 GNE NM_001128227.2(GNE): c.697_698insATTC (p.Arg233Hisfs) insertion Pathogenic rs886042120 GRCh37 Chromosome 9, 36246039: 36246040
28 GNE NM_001128227.2(GNE): c.2008C> T (p.Gln670Ter) single nucleotide variant Pathogenic rs886042195 GRCh37 Chromosome 9, 36218198: 36218198
29 GNE NM_001128227.2(GNE): c.1225G> T (p.Asp409Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs199877522 GRCh37 Chromosome 9, 36227394: 36227394
30 GNE NM_001128227.2(GNE): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs745517517 GRCh37 Chromosome 9, 36246469: 36246469
31 GNE NM_001128227.2(GNE): c.1937C> G (p.Ser646Ter) single nucleotide variant Pathogenic rs757523840 GRCh37 Chromosome 9, 36218269: 36218269
32 GNE NM_001128227.2(GNE): c.1779delC (p.Cys594Valfs) deletion Pathogenic/Likely pathogenic rs886044449 GRCh37 Chromosome 9, 36219965: 36219965
33 GNE NM_001128227.2(GNE): c.97G> T (p.Glu33Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886044514 GRCh37 Chromosome 9, 36249349: 36249349
34 GNE NM_005476.5(GNE): c.1571C> T (p.Ala524Val) single nucleotide variant Pathogenic rs764698870 GRCh37 Chromosome 9, 36222836: 36222836
35 MYH2 NM_017534.5(MYH2): c.3331C> T (p.Gln1111Ter) single nucleotide variant Pathogenic rs758264018 GRCh37 Chromosome 17, 10432502: 10432502

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:

36
# 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 11.97 APOE APP BACE1 MAPT RPS27A TARDBP
2 11.24 APP BACE1 SQSTM1
4 11.06 APP BACE1 MAPT
5 10.58 APOE APP BACE1 MAPT
6 10.45 RPS27A VCP

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 endosome GO:0005768 9.02 APP BACE1 FYCO1 HLA-DRB1 SQSTM1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 macroautophagy GO:0016236 9.63 RPS27A SQSTM1 VCP
2 cellular protein metabolic process GO:0044267 9.62 APOE APP BACE1 RPS27A
3 error-free translesion synthesis GO:0070987 9.49 RPS27A VCP
4 positive regulation of long-term synaptic potentiation GO:1900273 9.48 APP SQSTM1
5 negative regulation of kinase activity GO:0033673 9.43 MAPT MSTN
6 T cell chemotaxis GO:0010818 9.4 CXCL9 CXCR3
7 virion assembly GO:0019068 9.37 APOE RPS27A
8 amyloid fibril formation GO:1990000 9.26 APP MAPT
9 astrocyte activation GO:0048143 9.16 APP MAPT
10 negative regulation of long-term synaptic potentiation GO:1900272 8.96 APOE APP
11 positive regulation of amyloid fibril formation GO:1905908 8.62 APOE APP

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.5 APOE APP MAPT MSTN SQSTM1 TARDBP
2 lipoprotein particle binding GO:0071813 8.62 APOE MAPT
3 protein binding GO:0005515 10.09 APOE APP BACE1 COX5A CXCL9 FYCO1

Sources for Inclusion Body Myositis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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