IBM
MCID: INC002
MIFTS: 66

Inclusion Body Myositis (IBM) malady

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Bone diseases, Metabolic diseases, Blood diseases, Muscle diseases

Aliases & Classifications for Inclusion Body Myositis

Aliases & Descriptions for Inclusion Body Myositis:

Name: Inclusion Body Myositis 54 12 50 51 56 29 14 69
Nonaka Myopathy 12 50 25 56 69
Distal Myopathy with Rimmed Vacuoles 12 50 25 56
Ibm2 12 50 25 56
Inclusion Body Myopathy, Autosomal Recessive 50 25 69
Hereditary Inclusion Body Myopathy 12 50 25
Inclusion Body Myopathy 2 12 50 25
Inclusion Body Myopathy 3 12 50 24
Hibm 12 50 25
Dmrv 50 25 56
Inclusion Body Myopathy, Quadriceps-Sparing 50 25
Sporadic Inclusion Body Myositis 56 52
Inclusion Body Myopathy Type 2 56 29
Distal Myopathy, Nonaka Type 12 56
Rimmed Vacuole Myopathy 50 25
Gne Myopathy 50 56
Ibm3 50 24
Qsm 50 25
Ibm 50 56
Myopathy with Congenital Joint Contractures, Ophthalmoplegia, and Rimmed Vacuoles 50
Hereditary Inclusion Body Myopathy - Joint Contractures - Ophthalmoplegia 50
Inclusion Body Myopathy, Autosomal Dominant 69
Inclusion Body Myopathy Autosomal Dominant 50
Hereditary Inclusion Body Myopathy Type 3 50
Hereditary Inclusion Body Myopathy Type 2 56
Inclusion Body Myopathy, Sporadic 69
Inclusion Body Myopathy Type 3 29
Quadriceps Sparing Myopathy 50
Quadriceps-Sparing Myopathy 56
Myositis, Inclusion Body 42
Inflammatory Myopathies 51
Myositis Inclusion Body 52
Inflammatory Myopathy 50
Myositis 69
Ibm-3 12
Hibm3 50
Hibm2 56
Sibm 56

Characteristics:

Orphanet epidemiological data:

56
inclusion body myositis
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult; Age of death: normal life expectancy;
gne myopathy
Inheritance: Autosomal recessive; Prevalence: 6-9/10000; Age of onset: Adolescent,Adult,Elderly;

HPO:

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


Classifications:



External Ids:

OMIM 54 147421
Disease Ontology 12 DOID:3429
ICD10 33 G72.41
ICD9CM 35 359.71
MeSH 42 D018979
NCIt 47 C84786
SNOMED-CT 64 72315009
Orphanet 56 ORPHA611 ORPHA602
UMLS via Orphanet 70 C0238190
ICD10 via Orphanet 34 M60.8 G71.8
MESH via Orphanet 43 C536816
UMLS 69 C0238190

Summaries for Inclusion Body Myositis

NINDS : 51 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 nonaka myopathy, is related to inclusion body myopathy, autosomal recessive and hereditary inclusion body myopathy type 4, and has symptoms including myalgia, quadriceps muscle weakness and hypothyroidism. 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 Neuroscience and A-beta Signaling Pathways. The drugs Abatacept and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, t cells and testes, and related phenotypes are behavior/neurological and immune system

NIH Rare Diseases : 50 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

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.

OMIM : 54 Sporadic inclusion body myositis (IBM) is the most common age-related muscle disease in the elderly that results in... (147421) more...

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 : 71 Inclusion body myositis (IBM) is an inflammatory muscle disease characterized by slowly progressive... 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 116)
id Related Disease Score Top Affiliating Genes
1 inclusion body myopathy, autosomal recessive 12.2
2 hereditary inclusion body myopathy type 4 12.1
3 gne-related myopathy 11.4
4 polymyositis 11.4
5 idiopathic inflammatory myopathy 11.3
6 proximal myopathy and ophthalmoplegia 11.2
7 myositis 11.1
8 nonaka myopathy 10.8
9 myopathy 10.5
10 dermatomyositis 10.4
11 keratosis palmoplantaris striata 10.4 APOE MAPT
12 bone dysplasia azouz type 10.3 APOE APP MAPT
13 hfe-associated hereditary hemochromatosis 10.3 GNE SQSTM1
14 pulmonary systemic sclerosis 10.3 APOE MAPT SERPINA3
15 dysphagia 10.3
16 limited scleroderma 10.3 APOE APP SERPINA3
17 cerebroretinal vasculopathy 10.3 MAPT SQSTM1 VCP
18 craniofacial and skeletal defects 10.3 MAPT RPS27A TARDBP
19 meier-gorlin syndrome 5 10.3 APOE APP MAPT RPS27A
20 meckel syndrome 10 10.3 APOE APP MAPT SERPINA3
21 autoimmune disease of urogenital tract 10.3 APOE MAPT TARDBP
22 hypoproteinemia, hypercatabolic 10.3 APP MAPT RPS27A TARDBP
23 contagious pustular dermatitis 10.3 APOE APP MAPT SERPINA3
24 arthrogryposis multiplex congenita, distal, type 1 10.3 GNE SQSTM1
25 adult mesenchymal chondrosarcoma 10.3 MAPT TARDBP VCP
26 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 10.3 APOE APP BACE1 SERPINA3
27 pancreatic cancer/melanoma syndrome 10.3 SQSTM1 TARDBP VCP
28 rippling muscle disease 10.2 DYSF MSTN
29 pancreatic solid pseudopapillary carcinoma 10.2 MAPT SQSTM1 TARDBP VCP
30 autism 19 10.2 MAPT RPS27A SQSTM1
31 adrenal cortical adenoma 10.2 GNE SQSTM1 TARDBP VCP
32 coenzyme q10 deficiency, primary, 1 10.2 APOE APP MAPT RPS27A TARDBP
33 pericardial tuberculosis 10.2 TARDBP VCP
34 severe congenital nemaline myopathy 10.2 APOE MAPT RPS27A TARDBP VCP
35 gallbladder adenoma 10.2 APP MAPT RPS27A
36 acne inversa, familial, 3 10.2 APOE MAPT RPS27A SQSTM1 TARDBP
37 andersen syndrome 10.2 MAPT RPS27A SQSTM1 TARDBP VCP
38 mucopolysaccharidosis iv 10.2 MAPT RPS27A SQSTM1 TARDBP VCP
39 angina pectoris 10.2 APOE MAPT TARDBP
40 ichthyosis lamellar 2 10.2 APOE APP MAPT
41 eumycotic mycetoma 10.1 APOE APP MAPT SQSTM1 TARDBP VCP
42 muscular dystrophy 10.1
43 substance-induced psychosis 10.1 APOE APP BACE1 CXCR3 MAPT TARDBP
44 epithelioid type angiomyolipoma 10.1 APOE APP BACE1 CXCR3 MAPT TARDBP
45 deafness, autosomal recessive 67 10.1 CXCL9 CXCR3 HLA-DRB1
46 advanced sleep phase syndrome, familial, 1 10.1 APOE CXCL9 CXCR3 HLA-DRB1
47 long qt syndrome 5 10.1 APP MAPT RPS27A SQSTM1 TARDBP VCP
48 cerebral angioma 10.1 DYSF EMD GNE MSTN
49 hepatitis 10.1
50 hepatitis c 10.1

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 by clinical synopsis from OMIM:

147421

Clinical features from OMIM:

147421

Human phenotypes related to Inclusion Body Myositis:

56 32 (show all 43)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myalgia 56 32 Occasional (29-5%) HP:0003326
2 quadriceps muscle weakness 56 32 Very frequent (99-80%),Excluded (0%) HP:0003731
3 hypothyroidism 56 32 Frequent (79-30%) HP:0000821
4 facial palsy 56 32 Occasional (29-5%) HP:0010628
5 feeding difficulties in infancy 56 32 Frequent (79-30%) HP:0008872
6 elevated serum creatine phosphokinase 56 32 Very frequent (99-80%) HP:0003236
7 emg abnormality 56 32 Very frequent (99-80%) HP:0003457
8 skeletal muscle atrophy 56 32 Very frequent (99-80%) HP:0003202
9 autoimmunity 56 32 Very frequent (99-80%) HP:0002960
10 cardiomyopathy 56 32 Very rare (<4-1%) HP:0001638
11 reduced tendon reflexes 56 32 Frequent (79-30%) HP:0001315
12 scapular winging 56 32 Occasional (29-5%) HP:0003691
13 ragged-red muscle fibers 56 32 Very frequent (99-80%) HP:0003200
14 mildly elevated creatine phosphokinase 56 32 Very frequent (99-80%) HP:0008180
15 steppage gait 56 32 Frequent (79-30%) HP:0003376
16 proximal muscle weakness 56 32 Very frequent (99-80%) HP:0003701
17 inflammatory myopathy 56 32 Very frequent (99-80%) HP:0009071
18 rimmed vacuoles 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0003805
19 increased variability in muscle fiber diameter 56 32 Frequent (79-30%) HP:0003557
20 lower limb amyotrophy 56 32 Occasional (29-5%) HP:0007210
21 absent achilles reflex 56 32 Frequent (79-30%) HP:0003438
22 tibialis muscle weakness 56 32 Very frequent (99-80%) HP:0008963
23 foot dorsiflexor weakness 56 32 Very frequent (99-80%) HP:0009027
24 fatty replacement of skeletal muscle 56 32 Very frequent (99-80%) HP:0012548
25 muscle fiber inclusion bodies 56 32 Very frequent (99-80%) HP:0100299
26 shoulder girdle muscle weakness 56 32 Frequent (79-30%) HP:0003547
27 limited wrist extension 56 32 Frequent (79-30%) HP:0006251
28 limited shoulder movement 56 32 Frequent (79-30%) HP:0006467
29 hip flexor weakness 56 32 Frequent (79-30%) HP:0012515
30 shoulder girdle muscle atrophy 56 32 Occasional (29-5%) HP:0003724
31 abnormality of the right hemidiaphragm 56 32 Occasional (29-5%) HP:0040047
32 weakness of long finger extensor muscles 56 32 Very rare (<4-1%) HP:0009077
33 muscle weakness 56 Occasional (29-5%)
34 lower limb muscle weakness 56 Very frequent (99-80%)
35 dysphagia 32 HP:0002015
36 hyporeflexia 32 HP:0001265
37 abnormality of muscle fibers 56 Very frequent (99-80%)
38 distal muscle weakness 32 HP:0002460
39 emg: myopathic abnormalities 56 Frequent (79-30%)
40 emg: positive sharp waves 56 Frequent (79-30%)
41 emg: myotonic discharges 56 Frequent (79-30%)
42 abnormality of the foot musculature 56 Occasional (29-5%)
43 emg 32 HP:0003458

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

MGI Mouse Phenotypes related to Inclusion Body Myositis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 APOE APP BACE1 DYSF EMD GNE
2 immune system MP:0005387 9.85 VCP APOE APP CXCR3 DYSF GNE
3 muscle MP:0005369 9.65 TARDBP VCP APOE APP BACE1 DYSF
4 no phenotypic analysis MP:0003012 9.17 APOE APP BACE1 DYSF MAPT MSTN

Drugs & Therapeutics for Inclusion Body Myositis

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

(show top 50) (show all 110)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Abatacept Approved Phase 4,Phase 3 332348-12-6 10237
2 Anesthetics Phase 4
3 Anesthetics, Local Phase 4
4 Antirheumatic Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
5 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
6
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
7
Memantine Approved, Investigational Phase 3 19982-08-2 4054
8
Infliximab Approved Phase 2, Phase 3 170277-31-3
9
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
10
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
11
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
12
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
13
Dolasetron Approved Phase 3 115956-12-2 60654
14
Petrolatum Approved Phase 2, Phase 3 8009-03-8
15
Acetaminophen Approved Phase 2, Phase 3 103-90-2 1983
16
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177
17
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
18
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030 46835353
19
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
20
leucovorin Approved, Nutraceutical Phase 3 58-05-9 54575, 6560146 143
21 Antiparkinson Agents Phase 3
22 Dopamine Agents Phase 3
23 Excitatory Amino Acid Antagonists Phase 3
24 Excitatory Amino Acids Phase 3
25 Neurotransmitter Agents Phase 3,Phase 2
26 Dermatologic Agents Phase 2, Phase 3
27 Gastrointestinal Agents Phase 2, Phase 3, Phase 1, Early Phase 1
28 Interleukin 1 Receptor Antagonist Protein Phase 2, Phase 3
29 Antibodies Phase 2, Phase 3, Phase 1
30 Antibodies, Blocking Phase 2, Phase 3
31 Antibodies, Monoclonal Phase 2, Phase 3
32 Immunoglobulins Phase 2, Phase 3, Phase 1
33 Pharmaceutical Solutions Phase 2, Phase 3
34 Anti-Inflammatory Agents Phase 3,Phase 1,Early Phase 1
35 Antimetabolites Phase 3
36 Antimetabolites, Antineoplastic Phase 3
37 Antineoplastic Agents, Hormonal Phase 3
38 Folic Acid Antagonists Phase 3
39 glucocorticoids Phase 3
40 Hormone Antagonists Phase 3
41 Hormones Phase 3
42 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
43 Methylprednisolone acetate Phase 3
44 Methylprednisolone Hemisuccinate Phase 3
45 Nucleic Acid Synthesis Inhibitors Phase 3
46 Prednisolone acetate Phase 3
47 Prednisolone hemisuccinate Phase 3
48 Prednisolone phosphate Phase 3
49 Vitamin B Complex Phase 3
50 Antiemetics Phase 3

Interventional clinical trials:

(show top 50) (show all 94)
id Name Status NCT ID Phase
1 Collagenase Injection vs Percutaneous Needle Aponeurotomy for Dupuytren's Disease Recruiting NCT03000114 Phase 4
2 Abatacept in Juvenile Dermatomyositis Recruiting NCT02594735 Phase 4
3 Randomised Controlled Trial of Memantine in Fibromyalgia Unknown status NCT01653457 Phase 3
4 Effects of Sodium Nitrate on Blood Flow in Becker Muscular Dystrophy Unknown status NCT02147639 Phase 2, Phase 3
5 Arimoclomol in Sporadic Inclusion Body Myositis Completed NCT00769860 Phase 2, Phase 3
6 Treatment With TNF Blockade, Infliximab, in Patients With Myositis Completed NCT00443222 Phase 2, Phase 3
7 Anakinra in Myositis Completed NCT01165008 Phase 2, Phase 3
8 Efficacy and Safety of Bimagrumab/BYM338 at 52 Weeks on Physical Function, Muscle Strength, Mobility in sIBM Patients Completed NCT01925209 Phase 2, Phase 3
9 Study of Long-term Safety, Efficacy Tolerability of BYM338 in Patients With Sporadic Inclusion Body Myositis Completed NCT02250443 Phase 2, Phase 3
10 Combined Treatment of Methotrexate + Glucocorticoids Versus Glucocorticoids Alone in Patients With PM and DM Completed NCT00651040 Phase 3
11 Efficacy of Dolasetron in Patients With Fibromyalgia Completed NCT00820326 Phase 3
12 Evaluation of the Efficiency of Autologous Platelet Gel (Platelet Rich Fibrin) Obtained From Own Patients' Blood Versus Vaselitulle in Dupuytren's Disease Postoperative Wound Healing Completed NCT00931567 Phase 2, Phase 3
13 Cytokine Inhibition in Chronic Fatigue Syndrome Patients Completed NCT02108210 Phase 2, Phase 3
14 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
15 Study Evaluating Efficacy and Safety of Octagam 10% in Patients With Dermatomyositis (Idiopathic Inflammatory Myopathy) Recruiting NCT02728752 Phase 3
16 Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Sialic Acid in Patients With GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) Active, not recruiting NCT02377921 Phase 3
17 Rapamycine vs Placebo for the Treatment of Inclusion Body Myositis Active, not recruiting NCT02481453 Phase 2, Phase 3
18 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 Active, not recruiting NCT02573467 Phase 3
19 Study to Evaluate the Safety and Efficacy of Ace-ER Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy Enrolling by invitation NCT02736188 Phase 3
20 A Phase 2 Study to Evaluate the Dose and Pharmacodynamic Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy Completed NCT01517880 Phase 2
21 Intravenousimmunoglobulin (IVIg) for the Treatment of Inflammatory Myopathies Completed NCT00001261 Phase 2
22 Alemtuzumab to Treat Sporadic Inclusion Body Myositis Completed NCT00079768 Phase 2
23 Topical Sodium Thiosulfate and Fractional Carbon Dioxide Laser in Treating Dermatomyositis Associated Calcinosis Completed NCT01572844 Phase 2
24 Efficacy, Safety and Tolerability of BYM338 in Patients With Sporadic Inclusion Body Myositis Completed NCT01423110 Phase 2
25 Prospective Studies of the Use of Self Hypnosis, Acupuncture and Osteopathic Manipulation on Muscle Tension in Children With Spastic Cerebral Palsy Completed NCT00011024 Phase 2
26 Botulinum Toxin Type A (Dysport) Associated With Rehabilitation Treatment in Patients With Primary Myofascial Pain Syndrome Completed NCT00149240 Phase 2
27 Rituximab for the Treatment of Refractory Inflammatory Myopathies and Refractory Myasthenia Gravis Completed NCT00774462 Phase 2
28 Rituximab for the Treatment of Refractory Adult and Juvenile Dermatomyositis (DM) and Adult Polymyositis (PM) Completed NCT00106184 Phase 2
29 A Study to Evaluate the Safety of Aceneuramic Acid Extended Release (Ace-ER) Tablets in GNE Myopathy (GNEM) (Also Known as Hereditary Inclusion Body Myopathy (HIBM)) Patients With Severe Ambulatory Impairment Recruiting NCT02731690 Phase 2
30 An Open Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy Active, not recruiting NCT02346461 Phase 1, Phase 2
31 An Open Label Phase 2 Extension Study of Higher Dose Sialic Acid (ER Tablets + IR Capsules) in Patients With GNE Myopathy Active, not recruiting NCT01830972 Phase 2
32 Safety and Efficacy of RCT-01 in Men and Women With Unilateral, Chronic Achilles Tendinosis Active, not recruiting NCT02330146 Phase 1, Phase 2
33 HOPE-Duchenne (Halt cardiomyOPathy progrEssion in Duchenne) Active, not recruiting NCT02485938 Phase 1, Phase 2
34 Efficacy of Sialic Acid GNE Related Thrombocytopenia Enrolling by invitation NCT02845609 Phase 2
35 Study of Arimoclomol in Inclusion Body Myositis (IBM) Not yet recruiting NCT02753530 Phase 2
36 Treatment and Assessment of Fibromyalgia Not yet recruiting NCT02760212 Phase 2
37 Phase I Clinical Trial of ManNAc in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM) Completed NCT01634750 Phase 1
38 Intravenous Immune Globulin to Treat Hereditary Inclusion Body Myopathy Completed NCT00195637 Phase 1
39 Safety and Pharmacokinetics of Sialic Acid Tables in Patients With Hereditary Inclusion Body Myopathy (HIBM) Completed NCT01359319 Phase 1
40 Pharmacokinetic Study on N-acetylneuraminic Acid Completed NCT01236898 Phase 1
41 A Pilot Study of Etanercept in Dermatomyositis Completed NCT00112385 Phase 1
42 A Phase 1 Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of ManNAc in Subjects With Primary Podocyte Diseases Recruiting NCT02639260 Phase 1
43 Follistatin Gene Transfer to Patients With Becker Muscular Dystrophy and Sporadic Inclusion Body Myositis Active, not recruiting NCT01519349 Phase 1
44 Improving Ambulatory Community Access After Paralysis Active, not recruiting NCT01570816 Phase 1
45 Natalizumab in Inclusion Body Myositis (IBM) Active, not recruiting NCT02483845 Phase 1
46 Stem Cell Transplantation in Idiopathic Inflammatory Myopathy Diseases Terminated NCT00278564 Phase 1
47 Quantitative and Functional Study of TH17 Lymphocytes in Horton's Disease (HD) Unknown status NCT02065297
48 A Case-control Study to Assess Risk of Coronary Heart Disease in Idiopathic Inflammatory Myopathy Unknown status NCT00971828
49 Natural History in CCFDN and IBM Syndromes Completed NCT01902940
50 Immune Abnormalities in Sporadic Inclusion Body Myositis Completed NCT00030212

Search NIH Clinical Center for Inclusion Body Myositis

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: myositis, inclusion body

Genetic Tests for Inclusion Body Myositis

Genetic tests related to Inclusion Body Myositis:

id Genetic test Affiliating Genes
1 Inclusion Body Myopathy 2 29
2 Inclusion Body Myopathy 3 29 24 MYH2
3 Inclusion Body Myositis 29

Anatomical Context for Inclusion Body Myositis

MalaCards organs/tissues related to Inclusion Body Myositis:

39
Skeletal Muscle, T Cells, Testes, Bone, Brain, Myeloid, Endothelial

Publications for Inclusion Body Myositis

Articles related to Inclusion Body Myositis:

(show top 50) (show all 609)
id Title Authors Year
1
Sporadic inclusion body myositis - a myodegenerative disease or an inflammatory myopathy. ( 28111778 )
2017
2
Physical function and muscle strength in sporadic inclusion body myositis. ( 28187529 )
2017
3
Inclusion body myositis pathogenesis: Steady progress. ( 28318035 )
2017
4
Overlapping features of polymyositis and inclusion body myositis in HIV-infected patients. ( 28283597 )
2017
5
Follistatin Gene Therapy for Sporadic Inclusion Body Myositis Improves Functional Outcomes. ( 28279643 )
2017
6
Fist sign in inclusion body myositis. ( 28215761 )
2017
7
Burden of Illness and Healthcare Resource Use in US Patients with sporadic Inclusion Body Myositis. ( 28493327 )
2017
8
Pathomechanisms of anti-cytosolic 5'-nucleotidase 1A autoantibodies in sporadic inclusion body myositis. ( 28318044 )
2017
9
Sarcoidosis: Is It a Possible Trigger of Inclusion Body Myositis? ( 28523201 )
2017
10
Association study reveals novel risk loci for sporadic inclusion body myositis. ( 28233382 )
2017
11
A Systematic Review and Meta-Analysis ofA Prevalence Studies of Sporadic Inclusion Body Myositis. ( 28505979 )
2017
12
Immune-array Analysis in Sporadic Inclusion Body Myositis Reveals HLA-DRB1 Amino Acid Heterogeneity across the Myositis Spectrum. ( 28086002 )
2017
13
A Case of Asymptomatic Inclusion Body Myositis. ( 28221303 )
2017
14
Comparison of serum rAAV serotype-specific antibodies in patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis or GNE myopathy. ( 28042944 )
2017
15
Calcium dysregulation, functional calpainopathy, and endoplasmic reticulum stress in sporadic inclusion body myositis. ( 28330496 )
2017
16
The role of p62/SQSTM1 in sporadic inclusion body myositis. ( 28159418 )
2017
17
Cytosolic 5'-nucleotidase 1A autoantibody profile and clinical characteristics in inclusion body myositis. ( 28122761 )
2017
18
Targeting protein homeostasis in sporadic inclusion body myositis. ( 27009270 )
2016
19
Inclusion Body Myositis. ( 27922498 )
2016
20
Sporadic Inclusion Body Myositis Manifesting as Isolated Muscle Weakness of the Finger Flexors Three Years after Disease Onset. ( 27904121 )
2016
21
Efficacy of immunosuppressive treatment in a systemic lupus erythematosus patient presenting with inclusion body myositis. ( 27048400 )
2016
22
Botulinum toxin and rehabilitation treatment in inclusion body myositis for severe oropharyngeal dysphagia. ( 27098244 )
2016
23
Diagnostic criteria for inclusion body myositis. ( 27027255 )
2016
24
Lagophthalmos and Ptosis in Inclusion Body Myositis. ( 26784549 )
2016
25
A surprising case of inclusion body myositis with positive endomysial C5b-9 staining. ( 26659413 )
2016
26
Neuromuscular ultrasound in the evaluation of inclusion body myositis. ( 27797863 )
2016
27
Multicenter questionnaire survey for sporadic inclusion body myositis in Japan. ( 27821140 )
2016
28
Sporadic inclusion-body myositis: Recent advances and the state of the art in 2016. ( 27616487 )
2016
29
Sporadic inclusion body myositis: A review of recent clinical advances and current approaches to diagnosis and treatment. ( 26778717 )
2016
30
Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis. ( 27131788 )
2016
31
Proteomics of rimmed vacuoles define new risk allele in inclusion body myositis. ( 28009083 )
2016
32
A Rare Case of Sporadic Inclusion Body Myositis (s-IBM). ( 26894112 )
2016
33
Clinical and Electrophysiological Findings in Hereditary Inclusion Body Myopathy Compared With Sporadic Inclusion Body Myositis. ( 27224433 )
2016
34
Epidemiology of sporadic inclusion body myositis. ( 27541181 )
2016
35
Cytotoxic T cells go awry in inclusion body myositis. ( 27189577 )
2016
36
Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis. ( 27594680 )
2016
37
Intramuscular dissociation of echogenicity in the triceps surae characterizes sporadic inclusion body myositis. ( 26706399 )
2016
38
Anesthetic Considerations of Sporadic Inclusion Body Myositis in an Elderly Man With Orthopedic Trauma. ( 27247916 )
2016
39
Hepatitis C virus infection in inclusion body myositis: A case-control study. ( 26683644 )
2016
40
Modeling functional decline over time in sporadic inclusion body myositis. ( 27511790 )
2016
41
Psychometric validation of a patient-reported measure of physical functioning in sporadic inclusion body myositis. ( 26872636 )
2016
42
Erratum to: Botulinum toxin and rehabilitation treatment in inclusion body myositis for severe oropharyngeal dysphagia. ( 27889862 )
2016
43
Sporadic inclusion body myositis misdiagnosed as idiopathic granulomatous myositis. ( 27692540 )
2016
44
Molecular events linking cholesterol to Alzheimer's disease and inclusion body myositis in a rabbit model. ( 27073745 )
2016
45
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
46
Association of inclusion body myositis with T cell large granular lymphocytic leukaemia. ( 26920676 )
2016
47
Transforming growth factor-I^ signaling is upregulated in sporadic inclusion body myositis. ( 27623743 )
2016
48
Development and evaluation of a standardized ELISA for the determination of autoantibodies against cN-1A (Mup44, NT5C1A) in sporadic inclusion body myositis. ( 27858337 )
2016
49
A protocol to develop clinical guidelines for inclusion-body myositis. ( 26800092 )
2016
50
Inclusion body myositis and anesthesia: a case series. ( 27185728 )
2016

Variations for Inclusion Body Myositis

ClinVar genetic disease variations for Inclusion Body Myositis:

6 (show all 33)
id 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.1820G> A (p.Gly607Glu) single nucleotide variant Pathogenic rs121908625 GRCh37 Chromosome 9, 36219924: 36219924
3 GNE NM_001190383.1(GNE): c.1669G> A (p.Ala557Thr) single nucleotide variant Pathogenic rs121908626 GRCh37 Chromosome 9, 36218222: 36218222
4 GNE NM_005476.5(GNE): c.2086G> A (p.Val696Met) single nucleotide variant Pathogenic/Likely pathogenic rs121908627 GRCh37 Chromosome 9, 36217445: 36217445
5 GNE NM_001128227.2(GNE): c.1002T> A (p.Cys334Ter) single nucleotide variant Pathogenic rs121908628 GRCh37 Chromosome 9, 36233990: 36233990
6 GNE NM_001128227.2(GNE): c.830G> A (p.Arg277Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908629 GRCh37 Chromosome 9, 36236861: 36236861
7 GNE NM_001128227.2(GNE): c.766G> A (p.Asp256Asn) single nucleotide variant Pathogenic rs121908630 GRCh37 Chromosome 9, 36236925: 36236925
8 GNE NM_005476.5(GNE): c.1714G> C (p.Val572Leu) single nucleotide variant Pathogenic rs121908632 GRCh37 Chromosome 9, 36219937: 36219937
9 GNE NM_001128227.2(GNE): c.1000_1001delTGinsGT (p.Cys334Val) indel Pathogenic rs121908633 GRCh37 Chromosome 9, 36233991: 36233992
10 GNE NM_001128227.2(GNE): c.1985C> T (p.Ala662Val) single nucleotide variant Pathogenic rs62541771 GRCh37 Chromosome 9, 36218221: 36218221
11 GNE NM_001128227.2(GNE): c.604A> G (p.Met202Val) single nucleotide variant Pathogenic rs121908634 GRCh37 Chromosome 9, 36246133: 36246133
12 SQSTM1 NM_003900.4(SQSTM1): c.970_1165del single nucleotide variant Pathogenic rs796051870 GRCh38 Chromosome 5, 179833783: 179833783
13 MYH2 NM_017534.5(MYH2): c.2116G> A (p.Glu706Lys) single nucleotide variant Pathogenic rs121434589 GRCh37 Chromosome 17, 10438454: 10438454
14 GNE NM_005476.5(GNE): c.527A> T (p.Asp176Val) single nucleotide variant Pathogenic rs139425890 GRCh37 Chromosome 9, 36246117: 36246117
15 MYH2 NM_017534.5(MYH2): c.904+1G> A single nucleotide variant Pathogenic rs879255253 GRCh37 Chromosome 17, 10446191: 10446191
16 MYH2 NM_017534.5(MYH2): c.2347C> T (p.Arg783Ter) single nucleotide variant Pathogenic rs762121316 GRCh38 Chromosome 17, 10533379: 10533379
17 MYH2 NM_017534.5(MYH2): c.1975-2A> G single nucleotide variant Pathogenic rs746770617 GRCh37 Chromosome 17, 10438684: 10438684
18 MYH2 NM_017534.5(MYH2): c.5609T> C (p.Leu1870Pro) single nucleotide variant Pathogenic rs786201023 GRCh38 Chromosome 17, 10523154: 10523154
19 MYH2 NM_017534.5(MYH2): c.2405T> A (p.Leu802Ter) single nucleotide variant Pathogenic rs758395765 GRCh37 Chromosome 17, 10436638: 10436638
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.706G> A (p.Ala236Thr) single nucleotide variant Pathogenic rs147708782 GRCh37 Chromosome 17, 10447063: 10447063
22 MYH2 NM_017534.5(MYH2): c.533C> T (p.Thr178Ile) single nucleotide variant Pathogenic rs756953958 GRCh37 Chromosome 17, 10447417: 10447417
23 GNE NM_005476.5(GNE): c.1760T> C (p.Ile587Thr) single nucleotide variant Pathogenic/Likely pathogenic rs748949603 GRCh37 Chromosome 9, 36219891: 36219891
24 GNE NM_001128227.2(GNE): c.829C> T (p.Arg277Trp) single nucleotide variant Pathogenic rs773729410 GRCh37 Chromosome 9, 36236862: 36236862
25 GNE NM_001128227.2(GNE): c.740T> C (p.Val247Ala) single nucleotide variant Pathogenic/Likely pathogenic rs779694939 GRCh38 Chromosome 9, 36236954: 36236954
26 GNE NM_001128227.2(GNE): c.697_698insATTC (p.Arg233Hisfs) insertion Pathogenic rs886042120 GRCh37 Chromosome 9, 36246039: 36246040
27 GNE NM_001128227.2(GNE): c.2008C> T (p.Gln670Ter) single nucleotide variant Pathogenic rs886042195 GRCh37 Chromosome 9, 36218198: 36218198
28 GNE NM_001128227.2(GNE): c.1225G> T (p.Asp409Tyr) single nucleotide variant Pathogenic rs199877522 GRCh37 Chromosome 9, 36227394: 36227394
29 GNE NM_001128227.2(GNE): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs745517517 GRCh37 Chromosome 9, 36246469: 36246469
30 GNE NM_001128227.2(GNE): c.1937C> G (p.Ser646Ter) single nucleotide variant Pathogenic rs757523840 GRCh37 Chromosome 9, 36218269: 36218269
31 GNE NM_001128227.2(GNE): c.1779delC (p.Cys594Valfs) deletion Pathogenic/Likely pathogenic rs886044449 GRCh37 Chromosome 9, 36219965: 36219965
32 GNE NM_001128227.2(GNE): c.97G> T (p.Glu33Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886044514 GRCh37 Chromosome 9, 36249349: 36249349
33 GNE NM_005476.5(GNE): c.1571C> T (p.Ala524Val) single nucleotide variant Pathogenic rs764698870 GRCh37 Chromosome 9, 36222836: 36222836

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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.86 APOE APP BACE1 MAPT TARDBP
2 11.27 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:

id Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 9.35 APP BACE1 DYSF HLA-DRB1 SQSTM1
2 extracellular exosome GO:0070062 9.32 APOE APP COX5A DYSF HLA-DRB1 ICOSLG

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

id Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.58 DYSF EMD MYH2
2 cellular protein metabolic process GO:0044267 9.46 APOE APP BACE1 RPS27A
3 error-free translesion synthesis GO:0070987 9.43 RPS27A VCP
4 negative regulation of kinase activity GO:0033673 9.37 MAPT MSTN
5 virion assembly GO:0019068 9.32 APOE RPS27A
6 T cell chemotaxis GO:0010818 9.26 CXCL9 CXCR3
7 plasma membrane repair GO:0001778 8.96 DYSF MYH2
8 amyloid fibril formation GO:1990000 8.62 APP MAPT

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

id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.17 APOE APP MAPT MSTN SQSTM1 TARDBP
2 lipoprotein particle binding GO:0071813 8.96 APOE MAPT
3 protein binding GO:0005515 10.09 APOE APP BACE1 COX5A CXCL9 DYSF

Sources for Inclusion Body Myositis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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