IBM
MCID: INC002
MIFTS: 66

Inclusion Body Myositis (IBM) malady

Neuronal, Metabolic categories

Summaries for Inclusion Body Myositis

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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

MalaCards: Inclusion Body Myositis, also known as nonaka myopathy, is related to arthritis and frontotemporal dementia, and has symptoms including feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia, muscle weakness/flaccidity and muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy. An important gene associated with Inclusion Body Myositis is GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase), and among its related pathways are CXCR3-mediated signaling events and Chemokine Signaling. The compounds thioflavine s and tarc have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and heart, and related mouse phenotype muscle.

Disease Ontology:8 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:21 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.

NINDS:44 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.

Wikipedia:64 Inclusion body myositis (IBM) is an inflammatory muscle disease, characterized by slowly progressive... more...

Description from OMIM:47 605820,600737,147421

Aliases & Classifications for Inclusion Body Myositis

Sources:
8Disease Ontology, 43NIH Rare Diseases, 44NINDS, 10DISEASES, 49Orphanet, 47OMIM, 61UMLS, 22GTR, 21Genetics Home Reference, 9diseasecard, 45Novoseek, 57SNOMED-CT, 35MeSH, 27ICD9CM, 40NCIt, 26ICD10 via Orphanet, 36MESH via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Metabolic


Characteristics (Orphanet epidemiological data):

49
inclusion body myositis:
Inheritance: Sporadic; Prevalence: 1-9/1000000; Age of onset: Adulthood; Age of death: Normal
nonaka myopathy:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Adulthood


Aliases & Descriptions:

inclusion body myositis 8 43 44 10 49 47 61
nonaka myopathy 8 9 22 21 47 45 49 61
distal myopathy with rimmed vacuoles 8 43 21 49
inclusion body myopathy 2 8 43 22 21
hereditary inclusion body myopathy 8 43 21
ibm2 8 21 49
hibm 8 43 21
inclusion body myopathy, autosomal recessive 21 47
distal myopathy, nonaka type 8 49
dmrv 43 21
ibm 43 49
inclusion body myopathy autosomal recessive 61
inclusion body myopathy, quadriceps-sparing 21
hereditary inclusion body myopathy type 2 49
inclusion body myopathy, sporadic 61
sporadic inclusion body myositis 49
inclusion body myopathy type 2 49
quadriceps-sparing myopathy 49
rimmed vacuole myopathy 21
myositis inclusion body 45
inflammatory myopathies 44
inflammatory myopathy 43
gne myopathy 43
hibm2 49
sibm 49
qsm 21


External Ids:

Disease Ontology8 DOID:3429
MeSH35 D018979
ICD9CM27 359.71
SNOMED-CT57 72315009
NCIt40 C84786
ICD10 via Orphanet26 M60.8, G71.8
MESH via Orphanet36 C536816

Related Diseases for Inclusion Body Myositis

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 133)
idRelated DiseaseScoreTop Affiliating Genes
1arthritis30.6CXCR3, CXCL9
2frontotemporal dementia30.6RPS27A, APP, APOE
3hepatitis c30.3CXCR3
4parkinson's disease30.2CHKB, APOE, APP, RPS27A
5amyotrophic lateral sclerosis30.2RPS27A, APP, CHKB
6polymyositis10.9
7dysphagia10.8
8idiopathic myopathy10.7
9bod syndrome10.6
10distal muscular dystrophy10.6
11oculopharyngeal muscular dystrophy10.5
12hepatitis b10.5
13alzheimer's disease10.4
14adult dermatomyositis10.4
15bladder carcinoma10.4
16brain disease10.4
17atrioventricular block10.4
18oculopharyngodistal myopathy10.4
19hereditary inclusion body myopathy type 410.4
20common variable immunodeficiency10.3
21t-cell leukemia10.3
22hepatitis b virus infection10.3
23gne-related myopathy10.2
24axonal neuropathy10.2
25autoimmune thyroiditis10.2
26lateral sclerosis10.2
27cutaneous lupus erythematosus10.2
28granulomatous myositis10.2
29systemic lupus erythematosus10.2
30transthyretin amyloidosis10.2
31emery-dreifuss muscular dystrophy10.2
32limb-girdle muscular dystrophy10.2
33muscular atrophy10.2
34hypertrophic cardiomyopathy10.2
35mumps10.2
36amyloidosis10.2
37bladder transitional cell carcinoma10.2
38sleep disorder10.2
39thyroiditis10.2
40transitional cell carcinoma10.2
41skeletal muscle regeneration10.2
42myofibrillar myopathy10.2
43al amyloidosis10.2
44vacuolar myopathy10.2
45myopathy congenital10.2
46leukemia, b-cell, chronic10.2
47leukemia, t-cell, chronic10.2
48left ventricular noncompaction10.2
49macrophagic myofasciitis10.2
50tremor10.2

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



Diseases related to inclusion body myositis

Clinical Features for Inclusion Body Myositis

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

605820,600737,147421

Clinical synopsis from OMIM:

147421

Symptoms:

49 (show all 8)
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • muscle weakness/flaccidity
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • abnormal emg/electromyogram/electropmyography
  • myalgia/muscular pain
  • autoimmunity/autoimmune reaction/autoantibodies
  • areflexia/hyporeflexia

Drugs & Therapeutics for Inclusion Body Myositis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Inclusion Body Myositis

Drug clinical trials:

Search ClinicalTrials for Inclusion Body Myositis

Search NIH Clinical Center for Inclusion Body Myositis

Search CenterWatch for Inclusion Body Myositis

Genetic Tests for Inclusion Body Myositis

Sources:
22GTR
See all sources

Genetic tests related to Inclusion Body Myositis:

id Genetic test Affiliating Genes
1 Inclusion Body Myopathy 222
2 Nonaka Myopathy22

Anatomical Context for Inclusion Body Myositis

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Inclusion Body Myositis:

33
Skin, Brain, Heart, Skeletal muscle, Thyroid, Myeloid, T cells, Endothelial

Animal Models for Inclusion Body Myositis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Inclusion Body Myositis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536910.4MSTN, RNF5, EMD, CHKB, APOE, APP

Publications for Inclusion Body Myositis

Sources:
51PubMed
See all sources

Articles related to Inclusion Body Myositis:

(show top 50)    (show all 499)
idTitleAuthorsYear
1
The effect of anakinra, an IL1 receptor antagonist, in patients with sporadic inclusion body myositis (sIBM): a small pilot study. (23998706)
2013
2
Sporadic inclusion body myositis presenting with severe camptocormia. (24055211)
2013
3
Biomarkers of inclusion body myositis. (24067380)
2013
4
Investigation of splicing changes and post-translational processing of LMNA in sporadic inclusion body myositis. (24040437)
2013
5
Graphical modelling of molecular networks underlying sporadic inclusion body myositis. (23595110)
2013
6
A dysphagia study in patients with sporadic inclusion body myositis (s-IBM). (21993833)
2012
7
Therapeutic effect of hyperbaric oxygen on inclusion body myositis. (23342768)
2012
8
Provision of an explanation for the inefficacy of immunotherapy in sporadic inclusion body myositis: quantitative assessment of inflammation and I^-amyloid in the muscle. (22941914)
2012
9
In sporadic inclusion body myositis muscle fibres TDP-43-positive inclusions are less frequent and robust than p62 inclusions, and are not associated with paired helical filaments. (20626631)
2011
10
Mesoangioblasts of inclusion-body myositis: a twofold tool to study pathogenic mechanisms and enhance defective muscle regeneration. (21842589)
2011
11
The association of sporadic inclusion body myositis and SjAPgren's syndrome in carriers of HLA-DR3 and the 8.1 MHC ancestral haplotype. (21507567)
2011
12
Measures of adult and juvenile dermatomyositis, polymyositis, and inclusion body myositis: Physician and Patient/Parent Global Activity, Manual Muscle Testing (MMT), Health Assessment Questionnaire (HAQ)/Childhood Health Assessment Questionnaire (C-HAQ), Childhood Myositis Assessment Scale (CMAS), Myositis Disease Activity Assessment Tool (MDAAT), Disease Activity Score (DAS), Short Form 36 (SF-36), Child Health Questionnaire (CHQ), physician global damage, Myositis Damage Index (MDI), Quantitative Muscle Testing (QMT), Myositis Functional Index-2 (FI-2), Myositis Activities Profile (MAP), Inclusion Body Myositis Functional Rating Scale (IBMFRS), Cutaneous Dermatomyositis Disease Area and Severity Index (CDASI), Cutaneous Assessment Tool (CAT), Dermatomyositis Skin Severity Index (DSSI), Skindex, and Dermatology Life Quality Index (DLQI). (22588740)
2011
13
Theories of the pathogenesis of inclusion body myositis. (20425523)
2010
14
What determines quality of life in inclusion body myositis? (20601666)
2010
15
Vascular occlusion training for inclusion body myositis: a novel therapeutic approach. (20548279)
2010
16
McArdle disease and sporadic inclusion body myositis. (19220759)
2009
17
Histone H1 is released from myonuclei and present in rimmed vacuoles with DNA in inclusion body myositis. (17888663)
2008
18
Rabbits fed cholesterol-enriched diets exhibit pathological features of inclusion body myositis. (18216139)
2008
19
Prevalence of sporadic inclusion body myositis and factors contributing to delayed diagnosis. (18815046)
2008
20
Amyloid toxicity in skeletal myoblasts: Implications for inclusion-body myositis. (18397759)
2008
21
Sporadic inclusion body myositis: a continuing puzzle. (18160291)
2008
22
Inclusion body myositis: an underdiagnosed myopathy of older people. (16364943)
2006
23
Sporadic inclusion body myositis: morphology, regeneration, and cytoskeletal structure of muscle fibres. (15146016)
2004
24
Insulin-like growth factor I in inclusion-body myositis and human muscle cultures. (15217093)
2004
25
Creutzfeldt-Jakob disease and inclusion body myositis: abundant disease-associated prion protein in muscle. (14705121)
2004
26
Unfolding story of inclusion-body myositis and myopathies: role of misfolded proteins, amyloid-beta, cholesterol, and aging. (12731644)
2003
27
Inclusion body myositis in connective tissue disorders: case report and review of the literature. (14576992)
2003
28
Anti-T-lymphocyte globulin treatment in inclusion body myositis: a randomized pilot study. (12874415)
2003
29
Inclusion body myositis in a patient with a presumed diagnosis of post-polio syndrome. (12814114)
2003
30
Inclusion body myositis associated with celiac sprue and idiopathic thrombocytopenic purpura. (12940332)
2003
31
Patterns of muscle involvement in inclusion body myositis: clinical and magnetic resonance imaging study. (11745956)
2001
32
Mycophenolate (CellCept) treatment of myasthenia gravis, chronic inflammatory polyneuropathy and inclusion body myositis. (11311292)
2001
33
Inclusion body myositis associated with hepatitis C virus infection. (11589773)
2001
34
Severe inclusion body myositis with interstitial pneumonia. (11579961)
2001
35
A prospective natural history study of inclusion body myositis: implications for clinical trials. (11502935)
2001
36
Neurodegeneration-associated proteins and inflammation in sporadic inclusion-body myositis. (11403162)
2001
37
Inclusion body myositis (IBM). (10774946)
2000
38
Redox factor-1 in muscle biopsies of patients with inclusion-body myositis. (10841976)
2000
39
Epidemiology of inclusion body myositis in the Netherlands: a nationwide study. (11087787)
2000
40
Dermatomyositis. Diagnosis and evaluation of dermatomyositis, polymyositis, and inclusion-body myositis. (10599341)
1999
41
Aberrant expression of cyclin-dependent kinase 5 in inclusion body myositis. (10563611)
1999
42
Inclusion body myositis. (10590889)
1999
43
Characterization of the mitochondrial DNA abnormalities in the skeletal muscle of patients with inclusion body myositis. (9596410)
1998
44
Inclusion body myositis: abnormal protein accumulation does not trigger apoptosis. (9855538)
1998
45
Dysphagia in patients with inclusion body myositis. (9665246)
1998
46
Does overexpression of betaAPP in aging muscle have a pathogenic role and a relevance to Alzheimer's disease? Clues from inclusion body myositis, cultured human muscle, and transgenic mice. (9846956)
1998
47
Beta APP gene transfer into cultured human muscle induces inclusion-body myositis aspects. (9243602)
1997
48
MHC class I-mediated cytotoxicity does not induce apoptosis in muscle fibers nor in inflammatory T cells: studies in patients with polymyositis, dermatomyositis, and inclusion body myositis. (8957443)
1996
49
Apolipoprotein E and inclusion body myositis. (9007086)
1996
50
Inclusion body myositis: an underdiagnosed condition? (8383483)
1993

Genetic Variations for Inclusion Body Myositis

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Inclusion Body Myositis:

63 (show all 37)
id Symbol AA change Variation SNP ID
1GNEp.Pro36LeuVAR_017945
2GNEp.Ile200PheVAR_017946
3GNEp.Asp225AsnVAR_017947
4GNEp.Arg246GlnVAR_017948
5GNEp.Arg246TrpVAR_017949
6GNEp.Cys303ValVAR_017953
7GNEp.Asp378TyrVAR_017954
8GNEp.Asp378TyrVAR_017954
9GNEp.Ala460ValVAR_017955
10GNEp.Ala460ValVAR_017955
11GNEp.Ala524ValVAR_017956
12GNEp.Phe528CysVAR_017957
13GNEp.Ile557ThrVAR_017958
14GNEp.Val572LeuVAR_017959rs121908632
15GNEp.Val572LeuVAR_017959rs121908632
16GNEp.Gly576GluVAR_017960
17GNEp.Ile587ThrVAR_017961
18GNEp.Ala631ThrVAR_017962
19GNEp.Ala631ValVAR_017963
20GNEp.Ala631ValVAR_017963
21GNEp.Tyr675HisVAR_017964
22GNEp.Val696MetVAR_017965rs121908627
23GNEp.Met712ThrVAR_017966rs28937594
24GNEp.Pro27SerVAR_021771
25GNEp.His132GlnVAR_021772
26GNEp.Arg162CysVAR_021773
27GNEp.Met171ValVAR_021774
28GNEp.Asp176ValVAR_021775rs139425890
29GNEp.Arg177CysVAR_021776
30GNEp.Gly206SerVAR_021777
31GNEp.Val216AlaVAR_021778
32GNEp.Arg306GlnVAR_021779
33GNEp.Val331AlaVAR_021780
34GNEp.Ile472ThrVAR_021781
35GNEp.Asn519SerVAR_021782
36GNEp.Ala600ThrVAR_021783
37GNEp.Ala630ThrVAR_021784

Expression for genes affiliated with Inclusion Body Myositis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Inclusion Body Myositis

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

Pathways for genes affiliated with Inclusion Body Myositis

Sources:
38NCBI BioSystems Database, 52QIAGEN, 30KEGG, 54Reactome
See all sources

Compounds for genes affiliated with Inclusion Body Myositis

Sources:
45Novoseek, 29IUPHAR, 50PharmGKB, 11DrugBank, 60Tocris Bioscience, 24HMDB, 2BitterDB
See all sources

Compounds related to Inclusion Body Myositis according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1thioflavine s4510.8APOE, APP, RPS27A
2tarc4510.8CCL21, CXCR3, CXCL11, CXCL9
3formate4510.8APOE, APP, RPS27A
4ccl345 2911.8CXCL9, CXCL11, CXCR3, CCL21
5ccl445 2911.8CCL21, CXCR3, CXCL11, CXCL9
6edss4510.8APOE, CXCR3
7tacrolimus45 50 1112.8CXCR3, CHKB, APP, RPS27A
8metrifonate4510.8APP, APOE
9creatinine4510.7RPS27A, APP, APOE, CHKB, CXCR3, CXCL9
10cyclosporin a45 29 6012.7RPS27A, APP, APOE, CHKB, CXCL11
11dexamethasone45 50 29 1113.7RPS27A, APP, CHKB, CXCR3, CXCL11, CXCL9
12arginine4510.7RPS27A, APP, APOE, CHKB, CXCR3, CXCL11
1324s-hydroxy-cholesterol4510.7APP, APOE
14vegf4510.7RPS27A, APP, APOE, CHKB, CXCR3, CXCL9
15aspirin45 50 29 2413.7CHKB, APOE, APP, RPS27A
16guanidine hydrochloride4510.7CHKB, APOE, RPS27A
17rantes4510.7CXCL11, CXCR3
18thioflavin t4510.7APP, APOE
194-hydroxynonenal45 2411.6APOE, APP, RPS27A
20chloroquine45 2 50 29 1114.6RPS27A, APP, APOE
21tacrine45 1111.6APOE, APP
22donepezil45 11 2412.6APOE, APP
23testosterone45 60 11 2413.5RPS27A, APP, APOE, CHKB, MSTN
24lactacystin4510.4RPS27A, APP, APOE
25sodium nitroprusside4510.4CXCL9, CXCR3, APP
26lovastatin45 50 60 29 1114.3CHKB, APOE, APP
27sodium dodecylsulfate4510.1RPS27A, APP, APOE

GO Terms for genes affiliated with Inclusion Body Myositis

Sources:
16Gene Ontology
See all sources

Cellular components related to Inclusion Body Myositis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00989710.4CXCL9, CXCR3, HLA-DRB3, ICOSLG

Biological processes related to Inclusion Body Myositis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1T cell costimulationGO:03129510.4HLA-DRB3, ICOSLG, CCL21
2immune responseGO:00695510.4CXCL9, CXCL11, HLA-DRB3, CCL21
3inflammatory responseGO:00695410.3CXCL9, CXCL11, CXCR3, CCL21
4chemotaxisGO:00693510.1CXCR3, CXCL11, CXCL9

Molecular functions related to Inclusion Body Myositis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chemokine activityGO:00800910.4CXCL9, CXCL11, CCL21

Products for genes affiliated with Inclusion Body Myositis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Inclusion Body Myositis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet