MCID: FCL041
MIFTS: 41

Focal Myositis

Categories: Neuronal diseases, Bone diseases, Rare diseases

Aliases & Classifications for Focal Myositis

MalaCards integrated aliases for Focal Myositis:

Name: Focal Myositis 59
Focal Nodular Myositis 59 73
Inflammatory Pseudotumor of Skeletal Muscle 59
Myositis, Focal 73

Characteristics:

Orphanet epidemiological data:

59
focal myositis
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy;

Classifications:



External Ids:

Orphanet 59 ORPHA48918
UMLS via Orphanet 74 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 radiculopathy. 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. Affiliated tissues include skeletal muscle, bone and tongue, and related phenotypes are muscle weakness and limitation of joint mobility

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 82)
# Related Disease Score Top Affiliating Genes
1 myositis 10.7
2 radiculopathy 10.0
3 extracranial arteriovenous malformation 9.9 MMP2 MMP9
4 lentigo maligna melanoma 9.9 MMP2 MMP9
5 villous adenocarcinoma 9.9 MMP2 MMP9
6 myopathy 9.9
7 psammomatous meningioma 9.9 MMP2 MMP9
8 acute transverse myelitis 9.9 MMP2 MMP9
9 ischemic colitis 9.9 MMP2 MMP9
10 parotitis 9.9 MMP2 MMP9
11 conjunctival nevus 9.8 MMP2 MMP9
12 klatskin's tumor 9.8 MMP2 MMP9
13 microcystic meningioma 9.8 MMP2 MMP9
14 adenomyosis 9.8 MMP2 MMP9
15 corneal ulcer 9.8 MMP2 MMP9
16 nasal cavity squamous cell carcinoma 9.8 MMP2 MMP9
17 odontogenic myxoma 9.8 MMP2 MMP9
18 transverse myelitis 9.8 MMP2 MMP9
19 sorsby fundus dystrophy 9.8 MMP2 MMP9
20 lung giant cell carcinoma 9.8 MMP2 MMP9
21 hypertensive heart disease 9.8 MMP2 MMP9
22 aortic aneurysm, familial thoracic 1 9.8 MMP2 MMP9
23 polymyositis 9.8
24 cervicitis 9.8
25 tongue cancer 9.8 MMP2 MMP9
26 pneumothorax 9.8 MMP2 MMP9
27 aortic disease 9.8 MMP2 MMP9
28 grade iii astrocytoma 9.7 MMP2 MMP9
29 brain glioblastoma multiforme 9.7 MMP7 MMP9
30 inguinal hernia 9.7 MMP2 MMP9
31 pediatric multiple sclerosis 9.7 MMP7 MMP9
32 adult astrocytic tumour 9.7 MMP7 MMP9
33 oral cancer 9.7 MMP2 MMP9
34 female reproductive organ cancer 9.7 MMP2 MMP9
35 aortic aneurysm, familial abdominal, 1 9.7 MMP2 MMP9
36 respiratory system cancer 9.7 MMP2 MMP9
37 gliosarcoma 9.7 MMP2 MMP9
38 cell type cancer 9.6 MMP2 MMP9
39 periodontitis 9.6 MMP2 MMP9
40 synovitis 9.6
41 proteus syndrome 9.6
42 adenocarcinoma 9.6
43 rheumatoid arthritis 9.6
44 rhabdomyosarcoma 9.6
45 stiff-person syndrome 9.6
46 mixed connective tissue disease 9.6
47 muscular dystrophy, becker type 9.6
48 aging 9.6
49 muscle hypertrophy 9.6
50 connective tissue disease 9.6

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:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001324
2 limitation of joint mobility 59 32 occasional (7.5%) Occasional (29-5%) HP:0001376
3 weight loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0001824
4 fever 59 32 occasional (7.5%) Occasional (29-5%) HP:0001945
5 elevated serum creatine phosphokinase 59 32 frequent (33%) Frequent (79-30%) HP:0003236
6 myalgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003326
7 myositis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100614

MGI Mouse Phenotypes related to Focal Myositis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.46 MMP2 MMP7 MMP9 TGM2
2 hematopoietic system MP:0005397 9.26 MMP2 MMP7 MMP9 TGM2
3 neoplasm MP:0002006 8.92 MMP2 MMP7 MMP9 TGM2

Drugs & Therapeutics for Focal Myositis

Search Clinical Trials , NIH Clinical Center for Focal Myositis

Genetic Tests for Focal Myositis

Anatomical Context for Focal Myositis

MalaCards organs/tissues related to Focal Myositis:

41
Skeletal Muscle, Bone, Tongue

Publications for Focal Myositis

Articles related to Focal Myositis:

(show top 50) (show all 127)
# Title Authors Year
1
Focal myositis diffusely involving multiple masticatory muscles. ( 29400113 )
2018
2
Case report: A rare case of focal myositis presenting as Sartorius muscle contracture: A case report and review of literature. ( 29768366 )
2018
3
Focal myositis: New insights on diagnosis and pathology. ( 29467303 )
2018
4
Stiff Person Syndrome With Evidence of Nonspecific Focal Myositis Secondary to Sustained Muscle Contraction: A Case Report. ( 29705167 )
2018
5
Focal myositis with neurogenic atrophy: A case report. ( 29628025 )
2018
6
Focal myositis associated to radiculopathy. ( 28629659 )
2017
7
Electromyogram-evoked focal myositis. ( 28127151 )
2017
8
Recurrent Focal Myositis in Childhood: A Case Report and Systematic Review of the Literature. ( 28476523 )
2017
9
Ultrasound for the rheumatologist - focal myositis. ( 29231909 )
2017
10
Focal myositis: A review. ( 27726926 )
2016
11
Focal myositis presenting as pseudothrombophlebitis of the arm. ( 26626630 )
2016
12
Recurrent Bilateral Focal Myositis. ( 27853086 )
2016
13
Focal Myositis in paediatric age. ( 25878988 )
2015
14
Core biopsy as a simple and effective diagnostic tool in head and neck focal myositis. ( 26670758 )
2015
15
Iliopsoas Sarcoma-Induced Femoral Mononeuropathy Radiologically Presenting as Focal Myositis of the Thigh: A Case Report. ( 26390395 )
2015
16
Focal myositis: Sonographic findings. ( 25759132 )
2015
17
Recurrent Focal myositis: a rare inflammatory myopathy. ( 24859416 )
2014
18
Focal Myositis around Hip Joint: 3 Cases Report. ( 27536581 )
2014
19
Clinical images: Focal myositis demonstrated on positron emission tomography. ( 24974825 )
2014
20
Acute exacerbation of previously undiagnosed chronic focal myositis in an Aboriginal patient on maintenance haemodialysis. ( 25342033 )
2014
21
Focal myositis of lower extremity responsive to botulinum A toxin. ( 24614669 )
2014
22
Rapid progressive focal myositis of the head and neck region: a case report. ( 24429642 )
2014
23
Ischaemia due to a vascular malformation causing focal myositis. ( 25155485 )
2014
24
Acute focal myositis causing significant radiological and histological abnormality settles spontaneously with expectant management. ( 24336581 )
2013
25
Unilateral muscle hypertrophy and focal myositis following S1 radiculopathy. ( 23728114 )
2013
26
Ultrasound-guided closed muscle biopsy: a useful tool for rheumatologists : case report: recurrent focal myositis of the gastrocnemius muscle. ( 22095391 )
2013
27
Unilateral calf hypertrophy and focal myositis induced by S1 radiculopathy: dramatic response to steroid treatment. ( 24081596 )
2013
28
A case of Behcet's syndrome presenting as focal myositis. ( 22271758 )
2012
29
Focal myositis--neurogenic phenomenon? ( 22153989 )
2012
30
Statin-induced focal myositis of the upper extremity. A report of two cases. ( 21232890 )
2011
31
Focal myositis of unilateral leg. ( 22506226 )
2011
32
Focal myositis of the thigh misdiagnosed radiologically as rhabdomyosarcoma. ( 22700615 )
2011
33
Focal myositis: a paraneoplastic syndrome? ( 21498103 )
2011
34
Recurrent focal myositis in an infant: a report of the youngest case. ( 21166916 )
2010
35
Distal-symmetric focal inflammatory myopathy distinct from focal myositis and polymyositis. ( 19609922 )
2009
36
Disseminated Histoplasma capsulatum infection presenting with panniculitis and focal myositis in rheumatoid arthritis treated with etanercept. ( 19444717 )
2009
37
Focal myositis: a clinicopathologic study of 115 cases of an intramuscular mass-like reactive process. ( 19363438 )
2009
38
Focal myositis of the tongue presenting as macroglossia. ( 20055851 )
2009
39
Statin-associated focal myositis. ( 18155787 )
2009
40
MR imaging findings of focal myositis: a pseudotumour that may mimic muscle neoplasm. ( 19255757 )
2009
41
All-trans retinoic acid-induced focal myositis, synovitis, and mononeuritis. ( 20009973 )
2009
42
Dropped-head syndrome due to steroid responsive focal myositis: a case report and review of the literature. ( 17964603 )
2008
43
Expression of transglutaminase 2 does not differentiate focal myositis from generalized inflammatory myopathies. ( 18005224 )
2008
44
Focal myositis of the calf muscles. ( 19032842 )
2008
45
Focal myositis of the calf following S1 radiculopathy. ( 18206215 )
2008
46
Recurrent focal myositis presenting as flexion contractures of the fingers. ( 17993438 )
2007
47
Camptocormia associated with focal myositis in multiple-system atrophy. ( 16211611 )
2006
48
Inflammatory focal myositis of the sternomastoid muscle: is there an absolute indication for biopsy? A case report and review of the literature. ( 16362267 )
2006
49
Focal myositis of the iliopsoas muscle--a benign pseudotumour: ultrasound appearance in correlation with CT and MRI. ( 16612727 )
2006
50
Focal myositis with fasciitis and vasculitis revealing chronic lymphocytic leukaemia. ( 15941726 )
2005

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 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.35 MMP2 MMP7 MMP9
2 11.74 MMP2 MMP9
3 11.72 MMP2 MMP7 MMP9
4 11.68 MMP2 MMP9
5 11.64 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 11.28 MMP2 MMP7 MMP9
13 11.19 MMP2 MMP9
14
Show member pathways
11.15 MMP2 MMP9
15 11.01 MMP2 MMP9
16 10.96 MMP2 MMP9
17 10.95 MMP2 MMP7 MMP9
18 10.85 MMP2 MMP9
19 10.77 MMP2 MMP9
20 10.6 MMP7 MMP9
21 10.58 MMP2 MMP7 MMP9

GO Terms for Focal Myositis

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.92 MMP2 MMP7 MMP9 TGM2

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

# 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 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.26 MMP2 MMP9
5 endodermal cell differentiation GO:0035987 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:

# 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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