MCID: FCL041
MIFTS: 43

Focal Myositis

Categories: Neuronal diseases, Bone diseases, Rare diseases

Aliases & Classifications for Focal Myositis

MalaCards integrated aliases for Focal Myositis:

Name: Focal Myositis 56
Focal Nodular Myositis 56 69
Inflammatory Pseudotumor of Skeletal Muscle 56
Myositis, Focal 69

Characteristics:

Orphanet epidemiological data:

56
focal myositis
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy;

Classifications:



External Ids:

Orphanet 56 ORPHA48918
UMLS via Orphanet 70 C0751357
ICD10 via Orphanet 34 M60.8

Summaries for Focal Myositis

MalaCards based summary : Focal Myositis, also known as focal nodular myositis, is related to myositis and thymus clear cell carcinoma, and has symptoms including muscle weakness, limitation of joint mobility and weight loss. An important gene associated with Focal Myositis is MMP2 (Matrix Metallopeptidase 2), and among its related pathways/superpathways are Degradation of the extracellular matrix and Fluid shear stress and atherosclerosis. The drugs Methotrexate and Etanercept have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, bone and tongue, and related phenotypes are cardiovascular system and neoplasm

Related Diseases for Focal Myositis

Diseases related to Focal Myositis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 88)
id Related Disease Score Top Affiliating Genes
1 myositis 10.6
2 thymus clear cell carcinoma 10.1 MMP2 MMP7
3 radiculopathy 10.0
4 facial arteriovenous malformation 10.0 MMP2 MMP9
5 leucocyte adhesion defect 10.0 MMP2 MMP9
6 acquired hemangioma 10.0 MMP2 MMP9
7 transitional meningioma 10.0 MMP2 MMP9
8 drug rash with eosinophilia and systemic symptoms 10.0 MMP2 MMP9
9 collagenous colitis 10.0 MMP2 MMP9
10 sialadenitis 10.0 MMP2 MMP9
11 cecum adenoma 10.0 MMP2 MMP9
12 corneal staphyloma 9.9 MMP2 MMP9
13 chemical colitis 9.9 MMP9 TGM2
14 spindle epithelial tumor with thymus-like differentiation tumor 9.9 MMP2 MMP9
15 nasal cavity adenocarcinoma 9.9 MMP2 MMP9
16 ulnar neuropathy 9.9 MMP2 MMP9
17 adenosine monophosphate deaminase 1 deficiency 9.9 MMP2 MMP9
18 charcot-marie-tooth disease, axonal, type 2cc 9.9 MMP2 MMP9
19 colon squamous cell carcinoma 9.9 MMP2 MMP9
20 influenza 9.9 MMP2 MMP9
21 oligomeganephronic renal hypoplasia 9.9 MMP2 MMP9
22 tricho onychic dysplasia 9.9 MMP2 MMP9
23 lung papillary adenocarcinoma 9.9 MMP2 MMP9
24 rare endometriosis 9.9 MMP2 MMP9
25 laryngostenosis 9.9 MMP2 MMP9
26 cystitis 9.9 MMP2 MMP9
27 mastoiditis 9.9 MMP2 MMP9
28 hodgkin's lymphoma, mixed cellularity 9.9 MMP2 MMP9
29 atrophic gastritis 9.9 MMP2 MMP9
30 brain ischemia 9.9 MMP7 MMP9
31 trachea squamous cell carcinoma 9.9 MMP2 MMP9
32 early myoclonic encephalopathy 9.9 MMP7 MMP9
33 immunodeficiency 27b, mycobacteriosis, ad 9.9 MMP7 MMP9
34 orbital lymphangioma 9.8 MMP2 MMP9
35 pancreatic acth hormone producing tumor 9.8 MMP2 MMP9
36 pellagra like syndrome 9.8 MMP7 MMP9
37 grade iii astrocytoma 9.8 MMP2 MMP9
38 parametrium malignant neoplasm 9.8 MMP2 MMP9
39 bardet-biedl syndrome 9.8 MMP2 MMP9
40 vulva fibroepithelial polyp 9.8 MMP2 MMP9
41 brown-vialetto-van laere syndrome 9.8 MMP2 MMP9
42 myopathy 9.8
43 spinal cord intramedullary teratoma 9.8 MMP2 MMP9
44 villous adenoma 9.8 MMP2 MMP9
45 multifocal osteogenic sarcoma 9.7 MMP2 MMP9
46 inappropriate adh syndrome 9.7 MMP2 MMP9
47 cervicitis 9.7
48 polymyositis 9.7
49 small cell cancer of the lung, somatic 9.7 MMP2 MMP9
50 impetigo 9.6 MMP2 MMP9

Graphical network of the top 20 diseases related to Focal Myositis:



Diseases related to Focal Myositis

Symptoms & Phenotypes for Focal Myositis

Human phenotypes related to Focal Myositis:

56 32 (show all 7)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 56 32 occasional (7.5%) Occasional (29-5%) HP:0001324
2 limitation of joint mobility 56 32 occasional (7.5%) Occasional (29-5%) HP:0001376
3 weight loss 56 32 occasional (7.5%) Occasional (29-5%) HP:0001824
4 fever 56 32 occasional (7.5%) Occasional (29-5%) HP:0001945
5 elevated serum creatine phosphokinase 56 32 frequent (33%) Frequent (79-30%) HP:0003236
6 myalgia 56 32 occasional (7.5%) Occasional (29-5%) HP:0003326
7 myositis 56 32 hallmark (90%) Very frequent (99-80%) HP:0100614

MGI Mouse Phenotypes related to Focal Myositis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.26 TGM2 MMP2 MMP7 MMP9
2 neoplasm MP:0002006 8.92 TGM2 MMP2 MMP7 MMP9

Drugs & Therapeutics for Focal Myositis

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

(show all 28)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
2
Etanercept Approved, Investigational Phase 2, Phase 3 185243-69-0
3
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
4
leucovorin Approved, Nutraceutical Phase 2, Phase 3 58-05-9 143 6006
5
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
6 Analgesics Phase 2, Phase 3
7 glucocorticoids Phase 2, Phase 3
8 Folic Acid Antagonists Phase 2, Phase 3
9 Gastrointestinal Agents Phase 2, Phase 3
10 Analgesics, Non-Narcotic Phase 2, Phase 3
11 Hormone Antagonists Phase 2, Phase 3
12 Dermatologic Agents Phase 2, Phase 3
13 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
14 Hormones Phase 2, Phase 3
15 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
16 Peripheral Nervous System Agents Phase 2, Phase 3
17 Vitamin B Complex Phase 2, Phase 3
18 Immunosuppressive Agents Phase 2, Phase 3
19 Anti-Inflammatory Agents Phase 2, Phase 3
20 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
21 Antimetabolites Phase 2, Phase 3
22 Antimetabolites, Antineoplastic Phase 2, Phase 3
23 Antirheumatic Agents Phase 2, Phase 3
24 Antineoplastic Agents, Hormonal Phase 2, Phase 3
25 Folate Nutraceutical Phase 2, Phase 3
26 Vitamin B9 Nutraceutical Phase 2, Phase 3
27 Bone Density Conservation Agents
28 Calcium, Dietary

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Understanding the Pathogenesis and Treatment of Childhood Onset Dermatomyositis Terminated NCT00035958 Phase 2, Phase 3 Prednisone;Methotrexate;Etanercept
2 Endomysial Fibrosis, Muscular Inflammatory Response and Calcium Homeostasis Dysfunction in Duchenne Muscular Dystrophy Unknown status NCT01823783
3 myoARRAY and TcLandscape Analysis for the Diagnosis of Inflammatory Myopathies Completed NCT00213629
4 Acceptance and Commitment Therapy for Muscle Disease Recruiting NCT02810028

Search NIH Clinical Center for Focal Myositis

Genetic Tests for Focal Myositis

Anatomical Context for Focal Myositis

MalaCards organs/tissues related to Focal Myositis:

39
Skeletal Muscle, Bone, Tongue

Publications for Focal Myositis

Articles related to Focal Myositis:

(show top 50) (show all 120)
id Title Authors Year
1
Focal myositis associated to radiculopathy. ( 28629659 )
2017
2
Recurrent Focal Myositis in Childhood: A Case Report and Systematic Review of the Literature. ( 28476523 )
2017
3
Electromyogram-evoked focal myositis. ( 28127151 )
2017
4
Focal myositis presenting as pseudothrombophlebitis of the arm. ( 26626630 )
2016
5
Recurrent Bilateral Focal Myositis. ( 27853086 )
2016
6
Focal myositis: A review. ( 27726926 )
2016
7
Focal Myositis in paediatric age. ( 25878988 )
2015
8
Focal myositis: Sonographic findings. ( 25759132 )
2015
9
Core biopsy as a simple and effective diagnostic tool in head and neck focal myositis. ( 26670758 )
2015
10
Iliopsoas Sarcoma-Induced Femoral Mononeuropathy Radiologically Presenting as Focal Myositis of the Thigh: A Case Report. ( 26390395 )
2015
11
Rapid progressive focal myositis of the head and neck region: a case report. ( 24429642 )
2014
12
Recurrent Focal myositis: a rare inflammatory myopathy. ( 24859416 )
2014
13
Ischaemia due to a vascular malformation causing focal myositis. ( 25155485 )
2014
14
Focal Myositis around Hip Joint: 3 Cases Report. ( 27536581 )
2014
15
Clinical images: Focal myositis demonstrated on positron emission tomography. ( 24974825 )
2014
16
Acute exacerbation of previously undiagnosed chronic focal myositis in an Aboriginal patient on maintenance haemodialysis. ( 25342033 )
2014
17
Focal myositis of lower extremity responsive to botulinum A toxin. ( 24614669 )
2014
18
Unilateral calf hypertrophy and focal myositis induced by S1 radiculopathy: dramatic response to steroid treatment. ( 24081596 )
2013
19
Acute focal myositis causing significant radiological and histological abnormality settles spontaneously with expectant management. ( 24336581 )
2013
20
Ultrasound-guided closed muscle biopsy: a useful tool for rheumatologists : case report: recurrent focal myositis of the gastrocnemius muscle. ( 22095391 )
2013
21
Unilateral muscle hypertrophy and focal myositis following S1 radiculopathy. ( 23728114 )
2013
22
A case of Behcet's syndrome presenting as focal myositis. ( 22271758 )
2012
23
Focal myositis--neurogenic phenomenon? ( 22153989 )
2012
24
Statin-induced focal myositis of the upper extremity. A report of two cases. ( 21232890 )
2011
25
Focal myositis: a paraneoplastic syndrome? ( 21498103 )
2011
26
Focal myositis of unilateral leg. ( 22506226 )
2011
27
Focal myositis of the thigh misdiagnosed radiologically as rhabdomyosarcoma. ( 22700615 )
2011
28
Recurrent focal myositis in an infant: a report of the youngest case. ( 21166916 )
2010
29
All-trans retinoic acid-induced focal myositis, synovitis, and mononeuritis. ( 20009973 )
2009
30
MR imaging findings of focal myositis: a pseudotumour that may mimic muscle neoplasm. ( 19255757 )
2009
31
Statin-associated focal myositis. ( 18155787 )
2009
32
Focal myositis: a clinicopathologic study of 115 cases of an intramuscular mass-like reactive process. ( 19363438 )
2009
33
Disseminated Histoplasma capsulatum infection presenting with panniculitis and focal myositis in rheumatoid arthritis treated with etanercept. ( 19444717 )
2009
34
Focal myositis of the tongue presenting as macroglossia. ( 20055851 )
2009
35
Distal-symmetric focal inflammatory myopathy distinct from focal myositis and polymyositis. ( 19609922 )
2009
36
Dropped-head syndrome due to steroid responsive focal myositis: a case report and review of the literature. ( 17964603 )
2008
37
Expression of transglutaminase 2 does not differentiate focal myositis from generalized inflammatory myopathies. ( 18005224 )
2008
38
Focal myositis of the calf following S1 radiculopathy. ( 18206215 )
2008
39
Focal myositis of the calf muscles. ( 19032842 )
2008
40
Recurrent focal myositis presenting as flexion contractures of the fingers. ( 17993438 )
2007
41
Focal myositis of the iliopsoas muscle--a benign pseudotumour: ultrasound appearance in correlation with CT and MRI. ( 16612727 )
2006
42
Inflammatory focal myositis of the sternomastoid muscle: is there an absolute indication for biopsy? A case report and review of the literature. ( 16362267 )
2006
43
Camptocormia associated with focal myositis in multiple-system atrophy. ( 16211611 )
2006
44
Focal myositis with fasciitis and vasculitis revealing chronic lymphocytic leukaemia. ( 15941726 )
2005
45
Focal myositis of the sternocleidomastoid muscle. ( 15632930 )
2005
46
Specific matrix metalloproteinase expression in focal myositis: an immunopathological study. ( 16097959 )
2005
47
Relapsing focal myositis: the localization detected by gallium citrate Ga 67 scintigraphy. ( 16344354 )
2005
48
Fine needle aspiration cytology of focal myositis: a case report. ( 16450907 )
2005
49
Reversible focal myositis in a patient taking venlafaxine. ( 15564641 )
2004
50
Focal myositis associated with S-1 radiculopathy: report of two cases. ( 14981746 )
2004

Variations for Focal Myositis

Expression for Focal Myositis

Search GEO for disease gene expression data for Focal Myositis.

Pathways for Focal Myositis

Pathways related to Focal Myositis according to GeneCards Suite gene sharing:

(show all 22)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.35 MMP2 MMP7 MMP9
2 11.75 MMP2 MMP9
3 11.72 MMP2 MMP7 MMP9
4 11.65 MMP2 MMP9
5 11.63 MMP2 MMP9
6 11.47 MMP2 MMP9
7 11.43 MMP2 MMP9
8
Show member pathways
11.43 MMP2 MMP7 MMP9
9 11.37 MMP2 MMP9
10 11.35 MMP2 MMP9
11
Show member pathways
11.34 MMP2 MMP9
12
Show member pathways
11.29 MMP2 MMP9
13 11.27 MMP2 MMP7 MMP9
14 11.19 MMP2 MMP9
15
Show member pathways
11.15 MMP2 MMP9
16 11.01 MMP2 MMP9
17 11 MMP2 MMP9
18 10.95 MMP2 MMP7 MMP9
19 10.85 MMP2 MMP9
20 10.82 MMP2 MMP9
21 10.6 MMP7 MMP9
22 10.58 MMP2 MMP7 MMP9

GO Terms for Focal Myositis

Cellular components related to Focal Myositis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.13 MMP2 MMP7 MMP9
2 extracellular matrix GO:0031012 8.92 MMP2 MMP7 MMP9 TGM2

Biological processes related to Focal Myositis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.58 MMP2 MMP7 MMP9
2 ephrin receptor signaling pathway GO:0048013 9.37 MMP2 MMP9
3 embryo implantation GO:0007566 9.32 MMP2 MMP9
4 endodermal cell differentiation GO:0035987 9.26 MMP2 MMP9
5 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.16 MMP2 MMP9
6 extracellular matrix disassembly GO:0022617 9.13 MMP2 MMP7 MMP9
7 collagen catabolic process GO:0030574 8.8 MMP2 MMP7 MMP9

Molecular functions related to Focal Myositis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.5 MMP2 MMP7 MMP9
2 peptidase activity GO:0008233 9.43 MMP2 MMP7 MMP9
3 serine-type endopeptidase activity GO:0004252 9.33 MMP2 MMP7 MMP9
4 metallopeptidase activity GO:0008237 9.13 MMP2 MMP7 MMP9
5 metalloendopeptidase activity GO:0004222 8.8 MMP2 MMP7 MMP9

Sources for Focal 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
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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