IBM
MCID: INC002
MIFTS: 78

Inclusion Body Myositis (IBM) malady

Neuronal diseases, Metabolic diseases categories

Summaries for Inclusion Body Myositis

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 myositis and myopathy, and has symptoms including myalgia/muscular pain, areflexia/hyporeflexia and feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia. 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 skeletal muscle, t cells and brain, 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:43 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:63 Inclusion body myositis (IBM) is an inflammatory muscle disease, characterized by slowly progressive... more...

Description from OMIM:46 605820,600737,147421,160750

Aliases & Classifications for Inclusion Body Myositis

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 34MeSH, 27ICD9CM, 39NCIt, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 35MESH via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 43 10 48 46 60
nonaka myopathy 8 9 22 21 46 44 48 60
distal myopathy with rimmed vacuoles 8 42 21 48
inclusion body myopathy 2 8 42 22 21
hereditary inclusion body myopathy 8 42 21
ibm2 8 21 48
hibm 8 42 21
inclusion body myopathy, autosomal recessive 21 46
distal myopathy, nonaka type 8 48
dmrv 42 21
ibm 42 48
inclusion body myopathy autosomal recessive 60
inclusion body myopathy, quadriceps-sparing 21
hereditary inclusion body myopathy type 2 48
inclusion body myopathy, sporadic 60
sporadic inclusion body myositis 48
inclusion body myopathy type 2 48
quadriceps-sparing myopathy 48
rimmed vacuole myopathy 21
myositis inclusion body 44
inflammatory myopathies 43
inflammatory myopathy 42
gne myopathy 42
hibm2 48
sibm 48
qsm 21


External Ids:

Disease Ontology8 DOID:3429
MeSH34 D018979
ICD9CM27 359.71
SNOMED-CT56 72315009
NCIt39 C84786
SNOMED-CT via Orphanet57 72315009
ICD10 via Orphanet26 M60.8, G71.8
MESH via Orphanet35 C536816

Related Diseases for Inclusion Body Myositis

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Inclusion Body Myositis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 134)
idRelated DiseaseScoreTop Affiliating Genes
1myositis32.2MSTN, CHKB, APP, RPS27A
2myopathy31.4RPS27A, GNE, APP, CHKB, EMD, MSTN
3dermatomyositis31.2CHKB
4muscular dystrophy30.8GNE, CHKB, EMD, MSTN
5dementia30.7APOE, APP, RPS27A
6hepatitis c30.7CXCR3
7arthritis30.6CXCR3, CXCL9
8rheumatoid arthritis30.6CXCL9, CXCL11, CXCR3, CHKB
9neuropathy30.6GNE, EMD, MSTN
10frontotemporal dementia30.5RPS27A, APP, APOE
11leukemia30.4CXCR3
12skin disease30.4CXCL9
13neuromuscular disease30.2MSTN, EMD, CHKB, GNE
14parkinson's disease30.2CHKB, APOE, APP, RPS27A
15amyotrophic lateral sclerosis30.2RPS27A, APP, CHKB
16prion disease30.2RPS27A, APP, APOE
17sarcoidosis30.2CXCL9, CXCR3
18myocarditis29.9CHKB
19alzheimer's disease10.5
20distal muscular dystrophy10.5
21idiopathic myopathy10.5
22oculopharyngeal muscular dystrophy10.5
23hepatitis10.5
24adult dermatomyositis10.4
25bladder carcinoma10.4
26brain disease10.4
27respiratory failure10.4
28myofibrillar myopathy10.4
29atrioventricular block10.4
30restrictive cardiomyopathy10.4
31hereditary inclusion body myopathy type 410.4
32interstitial lung disease10.4
33common variable immunodeficiency10.3
34neuronitis10.3
35lupus erythematosus10.3
36peripheral neuropathy10.3
37t-cell leukemia10.3
38chromosomal disease10.2
39gne-related myopathy10.2
40scleroderma10.2
41inflammatory myopathy with abundant macrophages10.2
42axonal neuropathy10.2
43autoimmune thyroiditis10.2
44lateral sclerosis10.2
45cutaneous lupus erythematosus10.2
46granulomatous myositis10.2
47systemic lupus erythematosus10.2
48transthyretin amyloidosis10.2
49emery-dreifuss muscular dystrophy10.2
50limb-girdle muscular dystrophy10.2

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



Diseases related to inclusion body myositis

Clinical Features for Inclusion Body Myositis

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Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

605820,600737,147421,160750

Clinical synopsis from OMIM:

147421

Symptoms:

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

Drugs & Therapeutics for Inclusion Body Myositis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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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

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32MalaCards
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MalaCards organs/tissues related to Inclusion Body Myositis:

32
Skeletal muscle, T cells, Brain, Testes, Myeloid, Skin, Thyroid, Heart, Endothelial

Animal Models for Inclusion Body Myositis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Inclusion Body Myositis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536910.4MSTN, RNF5, EMD, CHKB, APOE, APP

Publications for Inclusion Body Myositis

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Sources:
50PubMed
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Articles related to Inclusion Body Myositis:

(show top 50)    (show all 499)
idTitleAuthorsYear
1
A case of progressive quadriceps weakness and hyperCKemia mimicking inclusion body myositis. (24022920)
2013
2
Analysis of HLA-DRB3 alleles and supertypical genotypes in the MHC Class II region in sporadic inclusion body myositis. (23010279)
2013
3
Optineurin is potentially associated with TDP-43 and involved in the pathogenesis of inclusion body myositis. (22860700)
2013
4
Inclusion body myositis: a case of bilateral extremity weakness. (24377075)
2013
5
Quadriceps strength is a sensitive marker of disease progression in sporadic inclusion body myositis. (22738680)
2012
6
Activation of the I^-secretase complex and presence of I^-secretase-activating protein may contribute to AI^42 production in sporadic inclusion-body myositis muscle fibers. (22750528)
2012
7
Inclusion body myositis: laser microdissection reveals differential up-regulation of IFN-I^ signaling cascade in attacked versus nonattacked myofibers. (21855683)
2011
8
Inclusion body myositis in Alzheimer's disease. (21824117)
2011
9
Diagnostic value of markers of muscle degeneration in sporadic inclusion body myositis. (22106712)
2011
10
TDP-43 plasma levels do not differentiate sporadic inclusion body myositis from other inflammatory myopathies. (21046407)
2010
11
Protein aggregation in inclusion body myositis, a sporadic form among protein aggregate myopathies, and in myofibrillar myopathies--a comparative study. (21528768)
2010
12
Fast-twitch sarcomeric and glycolytic enzyme protein loss in inclusion body myositis. (19291799)
2009
13
CCR7+ myeloid dendritic cells together with CCR7+ T cells and CCR7+ macrophages invade CCL19+ nonnecrotic muscle fibers in inclusion body myositis. (19171354)
2009
14
Nature of "Tau" immunoreactivity in normal myonuclei and inclusion body myositis. (19626672)
2009
15
Dermatomyositis with inclusion body myositis pathology. (19623629)
2009
16
Inclusion body myositis: old and new concepts. (19864656)
2009
17
Vacuolar myopathy in a dog resembling human sporadic inclusion body myositis. (19718499)
2009
18
Nuclear localization of valosin-containing protein in normal muscle and muscle affected by inclusion-body myositis. (17626287)
2007
19
Macroautophagy as a pathomechanism in sporadic inclusion body myositis. (17438365)
2007
20
Mitochondrial abnormalities in inclusion-body myositis. (16432145)
2006
21
Sporadic inclusion body myositis in Japanese is associated with the MHC ancestral haplotype 52.1. (16564169)
2006
22
Sporadic inclusion-body myositis: a proposed key pathogenetic role of the abnormalities of the ubiquitin-proteasome system, and protein misfolding and aggregation. (16315367)
2005
23
Positive troponin T without cardiac involvement in inclusion body myositis. (16112010)
2005
24
Tau aggregates are abnormally phosphorylated in inclusion body myositis and have an immunoelectrophoretic profile distinct from other tauopathies. (15541003)
2004
25
Upregulated inducible co-stimulator (ICOS) and ICOS-ligand in inclusion body myositis muscle: significance for CD8+ T cell cytotoxicity. (15047591)
2004
26
Primary respiratory failure in inclusion body myositis. (15596785)
2004
27
Endoplasmic reticulum stress and unfolded protein response in inclusion body myositis muscle. (14695312)
2004
28
Expression of lysosome-related proteins and genes in the skeletal muscles of inclusion body myositis. (14513262)
2004
29
Inclusion body myositis: clonal expansions of muscle-infiltrating T cells persist over time. (12869141)
2003
30
Inclusion body myositis evolving in systemic lupus erythrematosus? A case report. (12869675)
2003
31
Sporadic inclusion body myositis: pilot study on the effects of a home exercise program on muscle function, histopathology and inflammatory reaction. (12610846)
2003
32
Analysis of HLA class I and II alleles in sporadic inclusion-body myositis. (14648147)
2003
33
Magnetic resonance imaging criteria for distinguishing between inclusion body myositis and polymyositis. (12233884)
2002
34
Expression of Bcl-2 in inclusion body myositis. (11982494)
2002
35
Inclusion body myositis-like phenotype induced by transgenic overexpression of beta APP in skeletal muscle. (11972038)
2002
36
Sporadic inclusion body myositis and hereditary inclusion body myopathy. (19078666)
2002
37
Increased expression of the normal cellular isoform of prion protein in inclusion-body myositis, inflammatory myopathies and denervation atrophy. (11303793)
2001
38
Randomized pilot trial of betaINF1a (Avonex) in patients with inclusion body myositis. (11706093)
2001
39
Report of a patient with inclusion body myositis and CD8+ chronic lymphocytic leukaemia--post-mortem analysis of muscle and brain. (11227133)
2001
40
Prevalence of sporadic inclusion body myositis in Western Australia. (10842277)
2000
41
Partial laminin alpha2 chain deficiency in a patient with myopathy resembling inclusion body myositis. (10852549)
2000
42
Inflammatory myopathies [polymyositis, dermatomyositis, inclusion body myositis]. (9801848)
1998
43
Immunolocalization of transcription factor NF-kappaB in inclusion-body myositis muscle and at normal human neuromuscular junctions. (9779924)
1998
44
Immune-mediated conditions and antibodies associated with sporadic inclusion body myositis. (9427231)
1998
45
Transgenic mice over-expressing the C-99 fragment of betaPP with an alpha-secretase site mutation develop a myopathy similar to human inclusion body myositis. (9846957)
1998
46
Sporadic inclusion-body myositis and hereditary inclusion-body myopathies: current concepts of diagnosis and pathogenesis. (9812213)
1998
47
The therapeutic dilemma of inclusion body myositis. (9065526)
1997
48
Sporadic inclusion body myositis: counts of different types of abnormal fibers. (8572661)
1996
49
Apolipoprotein E epsilon 4 in inclusion body myositis. (8526471)
1995
50
Amyloid filaments in inclusion body myositis. Novel findings provide insight into nature of filaments. (1668977)
1991

Genetic Variations for Inclusion Body Myositis

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Inclusion Body Myositis:

62 (show all 37)
id Symbol AA change Variation ID 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

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
37NCBI BioSystems Database, 51QIAGEN, 29KEGG, 53Reactome
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Compounds for genes affiliated with Inclusion Body Myositis

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Sources:
44Novoseek, 28IUPHAR, 49PharmGKB, 11DrugBank, 59Tocris Bioscience, 24HMDB, 2BitterDB
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Compounds related to Inclusion Body Myositis according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1thioflavine s4410.8APOE, APP, RPS27A
2tarc4410.8CCL21, CXCR3, CXCL11, CXCL9
3formate4410.8APOE, APP, RPS27A
4ccl344 2811.8CXCL9, CXCL11, CXCR3, CCL21
5ccl444 2811.8CCL21, CXCR3, CXCL11, CXCL9
6edss4410.8APOE, CXCR3
7tacrolimus44 49 1112.8CXCR3, CHKB, APP, RPS27A
8metrifonate4410.8APP, APOE
9creatinine4410.7RPS27A, APP, APOE, CHKB, CXCR3, CXCL9
10cyclosporin a44 28 5912.7RPS27A, APP, APOE, CHKB, CXCL11
11dexamethasone44 49 28 1113.7RPS27A, APP, CHKB, CXCR3, CXCL11, CXCL9
12arginine4410.7RPS27A, APP, APOE, CHKB, CXCR3, CXCL11
1324s-hydroxy-cholesterol4410.7APP, APOE
14vegf4410.7RPS27A, APP, APOE, CHKB, CXCR3, CXCL9
15aspirin44 49 28 2413.7CHKB, APOE, APP, RPS27A
16guanidine hydrochloride4410.7CHKB, APOE, RPS27A
17rantes4410.7CXCL11, CXCR3
18thioflavin t4410.7APP, APOE
194-hydroxynonenal44 2411.6APOE, APP, RPS27A
20chloroquine44 2 49 28 1114.6RPS27A, APP, APOE
21tacrine44 1111.6APOE, APP
22donepezil44 11 2412.6APOE, APP
23testosterone44 59 11 2413.5RPS27A, APP, APOE, CHKB, MSTN
24lactacystin4410.4RPS27A, APP, APOE
25sodium nitroprusside4410.4CXCL9, CXCR3, APP
26lovastatin44 49 59 28 1114.3CHKB, APOE, APP
27sodium dodecylsulfate4410.1RPS27A, APP, APOE

GO Terms for genes affiliated with Inclusion Body Myositis

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16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Inclusion Body Myositis

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet