MCID: FCL041
MIFTS: 42

Focal Myositis

Categories: Bone diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Focal Myositis

MalaCards integrated aliases for Focal Myositis:

Name: Focal Myositis 55
Focal Nodular Myositis 55 69
Inflammatory Pseudotumor of Skeletal Muscle 55
Myositis, Focal 69

Characteristics:

Orphanet epidemiological data:

55
focal myositis
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy;

Classifications:



External Ids:

Orphanet 55 ORPHA48918
UMLS via Orphanet 70 C0751357
ICD10 via Orphanet 33 M60.8

Summaries for Focal Myositis

MalaCards based summary : Focal Myositis, also known as focal nodular myositis, is related to squamous cell carcinoma and myositis, 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 Integrin Pathway and Degradation of the extracellular matrix. 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 90)
# Related Disease Score Top Affiliating Genes
1 squamous cell carcinoma 28.6 MMP2 MMP7 MMP9
2 myositis 10.7
3 radiculopathy 10.1
4 septic arthritis 10.0 MMP2 MMP7
5 extracranial arteriovenous malformation 9.9 MMP2 MMP9
6 lentigo maligna melanoma 9.9 MMP2 MMP9
7 villous adenocarcinoma 9.9 MMP2 MMP9
8 psammomatous meningioma 9.9 MMP2 MMP9
9 acute transverse myelitis 9.9 MMP2 MMP9
10 parotitis 9.9 MMP2 MMP9
11 conjunctival nevus 9.9 MMP2 MMP9
12 microcystic meningioma 9.9 MMP2 MMP9
13 klatskin's tumor 9.9 MMP2 MMP9
14 adenomyosis 9.9 MMP2 MMP9
15 hypercementosis 9.9 MMP2 MMP9
16 corneal ulcer 9.9 MMP2 MMP9
17 sorsby fundus dystrophy 9.9 MMP2 MMP9
18 nasal cavity squamous cell carcinoma 9.9 MMP2 MMP9
19 odontogenic myxoma 9.9 MMP2 MMP9
20 transverse myelitis 9.9 MMP2 MMP9
21 lung giant cell carcinoma 9.9 MMP2 MMP9
22 pelvic organ prolapse 9.9 MMP2 MMP9
23 hypertensive heart disease 9.9 MMP2 MMP9
24 aortic aneurysm, familial thoracic 1 9.9 MMP2 MMP9
25 inguinal hernia 9.9 MMP2 MMP9
26 pneumothorax 9.9 MMP2 MMP9
27 myopathy 9.9
28 tongue squamous cell carcinoma 9.9 MMP2 MMP9
29 tongue cancer 9.9 MMP2 MMP9
30 aortic disease 9.9 MMP2 MMP9
31 skin melanoma 9.9 MMP2 MMP9
32 brain glioblastoma multiforme 9.8 MMP7 MMP9
33 ovarian cancer 1 9.8 MMP2 MMP9
34 pediatric multiple sclerosis 9.8 MMP7 MMP9
35 female reproductive organ cancer 9.8 MMP2 MMP9
36 adult astrocytic tumour 9.8 MMP7 MMP9
37 oral cancer 9.8 MMP2 MMP9
38 aortic aneurysm, familial abdominal, 1 9.8 MMP2 MMP9
39 gliosarcoma 9.8 MMP2 MMP9
40 reproductive organ cancer 9.8 MMP2 MMP9
41 periodontitis 9.8 MMP2 MMP9
42 cell type cancer 9.8 MMP2 MMP9
43 endometrial stromal sarcoma 9.8 MMP2 MMP9
44 aortic aneurysm 9.8 MMP2 MMP9
45 episodic pain syndrome, familial, 1 9.8
46 polymyositis 9.8
47 cervicitis 9.8
48 oral squamous cell carcinoma 9.8 MMP2 MMP9
49 periodontal disease 9.8 MMP2 MMP9
50 fundus dystrophy 9.7 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:

55 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 55 31 occasional (7.5%) Occasional (29-5%) HP:0001324
2 limitation of joint mobility 55 31 occasional (7.5%) Occasional (29-5%) HP:0001376
3 weight loss 55 31 occasional (7.5%) Occasional (29-5%) HP:0001824
4 fever 55 31 occasional (7.5%) Occasional (29-5%) HP:0001945
5 elevated serum creatine phosphokinase 55 31 frequent (33%) Frequent (79-30%) HP:0003236
6 myalgia 55 31 occasional (7.5%) Occasional (29-5%) HP:0003326
7 myositis 55 31 hallmark (90%) Very frequent (99-80%) HP:0100614

MGI Mouse Phenotypes related to Focal Myositis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.26 MMP2 MMP7 MMP9 TGM2
2 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:

38
Skeletal Muscle, Bone, Tongue

Publications for Focal Myositis

Articles related to Focal Myositis:

(show top 50) (show all 122)
# Title Authors Year
1
Focal myositis diffusely involving multiple masticatory muscles. ( 29400113 )
2018
2
Ultrasound for the rheumatologist - focal myositis. ( 29231909 )
2017
3
Electromyogram-evoked focal myositis. ( 28127151 )
2017
4
Recurrent Focal Myositis in Childhood: A Case Report and Systematic Review of the Literature. ( 28476523 )
2017
5
Focal myositis associated to radiculopathy. ( 28629659 )
2017
6
Recurrent Bilateral Focal Myositis. ( 27853086 )
2016
7
Focal myositis presenting as pseudothrombophlebitis of the arm. ( 26626630 )
2016
8
Focal myositis: A review. ( 27726926 )
2016
9
Focal myositis: Sonographic findings. ( 25759132 )
2015
10
Iliopsoas Sarcoma-Induced Femoral Mononeuropathy Radiologically Presenting as Focal Myositis of the Thigh: A Case Report. ( 26390395 )
2015
11
Focal Myositis in paediatric age. ( 25878988 )
2015
12
Core biopsy as a simple and effective diagnostic tool in head and neck focal myositis. ( 26670758 )
2015
13
Ischaemia due to a vascular malformation causing focal myositis. ( 25155485 )
2014
14
Acute exacerbation of previously undiagnosed chronic focal myositis in an Aboriginal patient on maintenance haemodialysis. ( 25342033 )
2014
15
Recurrent Focal myositis: a rare inflammatory myopathy. ( 24859416 )
2014
16
Focal Myositis around Hip Joint: 3 Cases Report. ( 27536581 )
2014
17
Rapid progressive focal myositis of the head and neck region: a case report. ( 24429642 )
2014
18
Focal myositis of lower extremity responsive to botulinum A toxin. ( 24614669 )
2014
19
Clinical images: Focal myositis demonstrated on positron emission tomography. ( 24974825 )
2014
20
Unilateral muscle hypertrophy and focal myositis following S1 radiculopathy. ( 23728114 )
2013
21
Ultrasound-guided closed muscle biopsy: a useful tool for rheumatologists : case report: recurrent focal myositis of the gastrocnemius muscle. ( 22095391 )
2013
22
Acute focal myositis causing significant radiological and histological abnormality settles spontaneously with expectant management. ( 24336581 )
2013
23
Unilateral calf hypertrophy and focal myositis induced by S1 radiculopathy: dramatic response to steroid treatment. ( 24081596 )
2013
24
Focal myositis--neurogenic phenomenon? ( 22153989 )
2012
25
A case of Behcet's syndrome presenting as focal myositis. ( 22271758 )
2012
26
Focal myositis of unilateral leg. ( 22506226 )
2011
27
Statin-induced focal myositis of the upper extremity. A report of two cases. ( 21232890 )
2011
28
Focal myositis: a paraneoplastic syndrome? ( 21498103 )
2011
29
Focal myositis of the thigh misdiagnosed radiologically as rhabdomyosarcoma. ( 22700615 )
2011
30
Recurrent focal myositis in an infant: a report of the youngest case. ( 21166916 )
2010
31
Disseminated Histoplasma capsulatum infection presenting with panniculitis and focal myositis in rheumatoid arthritis treated with etanercept. ( 19444717 )
2009
32
All-trans retinoic acid-induced focal myositis, synovitis, and mononeuritis. ( 20009973 )
2009
33
Statin-associated focal myositis. ( 18155787 )
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
Focal myositis: a clinicopathologic study of 115 cases of an intramuscular mass-like reactive process. ( 19363438 )
2009
37
MR imaging findings of focal myositis: a pseudotumour that may mimic muscle neoplasm. ( 19255757 )
2009
38
Dropped-head syndrome due to steroid responsive focal myositis: a case report and review of the literature. ( 17964603 )
2008
39
Focal myositis of the calf muscles. ( 19032842 )
2008
40
Focal myositis of the calf following S1 radiculopathy. ( 18206215 )
2008
41
Expression of transglutaminase 2 does not differentiate focal myositis from generalized inflammatory myopathies. ( 18005224 )
2008
42
Recurrent focal myositis presenting as flexion contractures of the fingers. ( 17993438 )
2007
43
Inflammatory focal myositis of the sternomastoid muscle: is there an absolute indication for biopsy? A case report and review of the literature. ( 16362267 )
2006
44
Camptocormia associated with focal myositis in multiple-system atrophy. ( 16211611 )
2006
45
Focal myositis of the iliopsoas muscle--a benign pseudotumour: ultrasound appearance in correlation with CT and MRI. ( 16612727 )
2006
46
Relapsing focal myositis: the localization detected by gallium citrate Ga 67 scintigraphy. ( 16344354 )
2005
47
Specific matrix metalloproteinase expression in focal myositis: an immunopathological study. ( 16097959 )
2005
48
Focal myositis of the sternocleidomastoid muscle. ( 15632930 )
2005
49
Focal myositis with fasciitis and vasculitis revealing chronic lymphocytic leukaemia. ( 15941726 )
2005
50
Fine needle aspiration cytology of focal myositis: a case report. ( 16450907 )
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 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.93 MMP2 MMP7 MMP9
2
Show member pathways
12.35 MMP2 MMP7 MMP9
3
Show member pathways
11.82 MMP2 MMP7 MMP9
4 11.75 MMP2 MMP9
5 11.72 MMP2 MMP7 MMP9
6 11.69 MMP2 MMP9
7 11.65 MMP2 MMP9
8 11.48 MMP2 MMP9
9 11.44 MMP2 MMP9
10
Show member pathways
11.43 MMP2 MMP7 MMP9
11 11.38 MMP2 MMP9
12 11.36 MMP2 MMP9
13
Show member pathways
11.35 MMP2 MMP9
14
Show member pathways
11.29 MMP2 MMP9
15 11.28 MMP2 MMP7 MMP9
16 11.19 MMP2 MMP9
17
Show member pathways
11.15 MMP2 MMP9
18 11.01 MMP2 MMP9
19 10.96 MMP2 MMP9
20 10.95 MMP2 MMP7 MMP9
21 10.85 MMP2 MMP9
22 10.77 MMP2 MMP9
23 10.6 MMP7 MMP9
24 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 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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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