MCID: FCL041
MIFTS: 36

Focal Myositis

Categories: Bone diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Focal Myositis

MalaCards integrated aliases for Focal Myositis:

Name: Focal Myositis 58
Focal Nodular Myositis 58 70
Inflammatory Pseudotumor of Skeletal Muscle 58
Myositis, Focal 70

Characteristics:

Orphanet epidemiological data:

58
focal myositis
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare systemic and rhumatological diseases


External Ids:

ICD10 via Orphanet 33 M60.8
UMLS via Orphanet 71 C0751357
Orphanet 58 ORPHA48918
UMLS 70 C0409988 C0751357

Summaries for Focal Myositis

MalaCards based summary : Focal Myositis, also known as focal nodular myositis, is related to myositis and myopathy. 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 and tongue, and related phenotypes are myositis and elevated serum creatine kinase

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 145)
# Related Disease Score Top Affiliating Genes
1 myositis 10.9
2 myopathy 10.5
3 polymyositis 10.5
4 radiculopathy 10.3
5 myositis ossificans 10.2
6 fasciitis 10.2
7 soft tissue sarcoma 10.2
8 thrombophlebitis 10.1
9 vasculitis 10.1
10 septic arthritis 10.0 MMP7 MMP2
11 lyme disease 10.0
12 polyneuropathy 10.0
13 cryoglobulinemia 10.0
14 glomerular disease 10.0
15 multiple system atrophy 1 10.0
16 proteus syndrome 10.0
17 muscle hypertrophy 10.0
18 dermatomyositis 10.0
19 rhabdomyosarcoma 10.0
20 connective tissue disease 10.0
21 colorectal adenocarcinoma 9.9 MMP7 MMP2
22 extracranial arteriovenous malformation 9.9 MMP9 MMP2
23 arteriovenous malformation 9.9 MMP9 MMP2
24 acute transverse myelitis 9.9 MMP9 MMP2
25 transverse myelitis 9.9 MMP9 MMP2
26 lentigo maligna melanoma 9.9 MMP9 MMP2
27 nasal cavity squamous cell carcinoma 9.9 MMP9 MMP2
28 odontogenic myxoma 9.9 MMP9 MMP2
29 nasal cavity benign neoplasm 9.9 MMP9 MMP2
30 parotitis 9.9 MMP9 MMP2
31 lymphocytic colitis 9.9 TGM2 MMP9
32 periapical periodontitis 9.9 MMP9 MMP2
33 periodontitis 9.9 MMP9 MMP2
34 conjunctivochalasis 9.9 MMP9 MMP2
35 dental fluorosis 9.9 MMP9 MMP2
36 ischemic colitis 9.9 MMP9 MMP2
37 corneal ulcer 9.9 MMP9 MMP2
38 lung giant cell carcinoma 9.9 MMP9 MMP2
39 diastolic heart failure 9.9 MMP9 MMP2
40 oral submucous fibrosis 9.9 MMP9 MMP2
41 systolic heart failure 9.9 MMP9 MMP2
42 adenomyosis 9.9 MMP9 MMP2
43 hypertensive heart disease 9.9 MMP9 MMP2
44 pelvic organ prolapse 9.9 MMP9 MMP2
45 preterm premature rupture of the membranes 9.9 MMP9 MMP2
46 pelvic inflammatory disease 9.9 MMP9 MMP2
47 actinic keratosis 9.9 MMP9 MMP2
48 limb ischemia 9.9 MMP9 MMP2
49 oral cancer 9.9 MMP9 MMP2
50 pulmonary emphysema 9.9 MMP9 MMP2

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:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myositis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100614
2 elevated serum creatine kinase 58 31 frequent (33%) Frequent (79-30%) HP:0003236
3 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
4 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
5 myalgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003326
6 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
7 limitation of joint mobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0001376

MGI Mouse Phenotypes related to Focal Myositis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 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:

40
Skeletal Muscle, Tongue

Publications for Focal Myositis

Articles related to Focal Myositis:

(show top 50) (show all 216)
# Title Authors PMID Year
1
A case of dropped head syndrome due to focal myositis that worsened with cellulitis and improved only by treatment of cellulitis. 61
33686913 2021
2
Focal hamstring muscle oedema and atrophy post-anterior cruciate ligament reconstruction mimicking focal myositis. 61
32844226 2021
3
Bannwarth's syndrome and a surgicaldilemma: An uncommon zoonosis with a rare presentation. 61
33487875 2021
4
Bilateral triceps surae muscle focal myositis after a cauda equina syndrome. 61
33309202 2020
5
Muscle involvement in myasthenia gravis: Expanding the clinical spectrum of Myasthenia-Myositis association from a large cohort of patients. 61
32062029 2020
6
Spontaneous resolution of focal eosinophilic myositis of the adductor pollicis complicated by lung lesions. 61
33086952 2020
7
Myositis Induced by Isotretinoin: A Case Report and Literature Review. 61
31958335 2020
8
Recurrent focal myositis developing into a generalised idiopathic inflammatory myopathy with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase autoantibodies. 61
31678918 2019
9
Myositis Ossificans Traumatica of the Temporal Muscle: a Case Report and Literature Review Emphasizing Radiographic Features on Computed Tomography and Magnetic Resonance Imaging. 61
32158529 2019
10
Myositis in Lewis rats induced by the superantigen Staphylococcal enterotoxin A. 61
31087247 2019
11
Focal myositis: an unusual cause of hip pain. 61
31295776 2019
12
Focal Myositis of the Leg Presenting as Fever of Unknown Origin Detected by FDG PET/CT. 61
30562199 2019
13
Intravenous human immunoglobulin for the treatment of recurrent focal myositis. 61
31249282 2019
14
Focal myositis and contracture secondary to amiodarone extravasation from a peripheral cannula. 61
30661048 2019
15
The Effect of High-Intensity Laser Therapy on Trapezius Focal Myositis: A Rare Case Report. 61
31875130 2019
16
Stiff Person Syndrome With Evidence of Nonspecific Focal Myositis Secondary to Sustained Muscle Contraction: A Case Report. 61
29705167 2018
17
Focal myositis diffusely involving multiple masticatory muscles. 61
29400113 2018
18
Focal myositis with neurogenic atrophy: A case report. 61
29628025 2018
19
Case report: A rare case of focal myositis presenting as Sartorius muscle contracture: A case report and review of literature. 61
29768366 2018
20
Focal myositis: New insights on diagnosis and pathology. 61
29467303 2018
21
[Focal myositis: An unknown disease]. 61
28947258 2017
22
Focal myositis associated to radiculopathy. 61
28629659 2017
23
Ultrasound for the rheumatologist - focal myositis. 61
29231909 2017
24
Recurrent Focal Myositis in Childhood: A Case Report and Systematic Review of the Literature. 61
28476523 2017
25
Focal myositis: a rare case report. 61
31453449 2017
26
Electromyogram-evoked focal myositis. 61
28127151 2017
27
[Focal myositis of the thigh]. 61
28674593 2017
28
Focal myositis: A review. 61
27726926 2016
29
Focal Inflammatory Myositis on 18F-FDG PET/CT. 61
27055132 2016
30
Focal myositis presenting as pseudothrombophlebitis of the arm. 61
26626630 2016
31
Unilateral temporal myositis heralding polymyositis: ultrasonographic and elastographic findings. Case report. 61
26962566 2016
32
Acquired torticollis due to primary pyomyositis of the paraspinal muscles in an 11-year-old boy. 61
26994045 2016
33
Iliopsoas Sarcoma-Induced Femoral Mononeuropathy Radiologically Presenting as Focal Myositis of the Thigh: A Case Report. 61
26390395 2016
34
Recurrent Bilateral Focal Myositis. 61
27853086 2016
35
Core biopsy as a simple and effective diagnostic tool in head and neck focal myositis. 61
26670758 2015
36
Self-resolving focal non-ossifying myositis: a poorly known clinical and imaging entity diagnosed with MRI. 61
26668755 2015
37
Fine-needle aspiration findings in focal (nodular) myositis of a newborn: A case report. 61
26173198 2015
38
Focal myositis: Sonographic findings. 61
25759132 2015
39
Focal Myositis in paediatric age. 61
25878988 2015
40
Acute exacerbation of previously undiagnosed chronic focal myositis in an Aboriginal patient on maintenance haemodialysis. 61
25342033 2014
41
Focal Myositis around Hip Joint: 3 Cases Report. 61
27536581 2014
42
Ischaemia due to a vascular malformation causing focal myositis. 61
25155485 2014
43
[Lymphoma in the peripheral nerves and muscles]. 61
25082317 2014
44
Clinical images: Focal myositis demonstrated on positron emission tomography. 61
24974825 2014
45
Recurrent Focal myositis: a rare inflammatory myopathy. 61
24859416 2014
46
Focal myositis of lower extremity responsive to botulinum A toxin. 61
24614669 2014
47
[A boy with cervical focal myositis]. 61
24642117 2014
48
[Rapid progressive focal myositis of the head and neck region: a case report]. 61
24429642 2014
49
Acute focal myositis causing significant radiological and histological abnormality settles spontaneously with expectant management. 61
24336581 2013
50
Unilateral calf hypertrophy and focal myositis induced by S1 radiculopathy: dramatic response to steroid treatment. 61
24081596 2013

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)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.34 MMP9 MMP7 MMP2
2 11.75 MMP9 MMP2
3 11.72 MMP9 MMP7 MMP2
4 11.69 MMP9 MMP2
5 11.64 MMP9 MMP2
6 11.47 MMP9 MMP2
7 11.43 MMP9 MMP2
8
Show member pathways
11.43 MMP9 MMP7 MMP2
9 11.37 MMP9 MMP2
10
Show member pathways
11.35 MMP9 MMP2
11 11.34 MMP9 MMP2
12
Show member pathways
11.28 MMP9 MMP2
13 11.28 MMP9 MMP7 MMP2
14 11.21 MMP9 MMP2
15
Show member pathways
11.15 MMP9 MMP2
16 11.01 MMP9 MMP2
17 10.96 MMP9 MMP2
18 10.95 MMP9 MMP7 MMP2
19 10.85 MMP9 MMP2
20 10.77 MMP9 MMP2
21 10.6 MMP9 MMP7
22 10.58 MMP9 MMP7 MMP2

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 collagen-containing extracellular matrix GO:0062023 9.13 TGM2 MMP9 MMP2
2 extracellular matrix GO:0031012 8.8 MMP9 MMP7 MMP2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.67 MMP9 MMP7 MMP2
2 ephrin receptor signaling pathway GO:0048013 9.51 MMP9 MMP2
3 extracellular matrix organization GO:0030198 9.5 MMP9 MMP7 MMP2
4 positive regulation of smooth muscle cell proliferation GO:0048661 9.48 TGM2 MMP2
5 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.46 MMP9 MMP2
6 cellular response to reactive oxygen species GO:0034614 9.43 MMP9 MMP2
7 embryo implantation GO:0007566 9.4 MMP9 MMP2
8 endodermal cell differentiation GO:0035987 9.37 MMP9 MMP2
9 response to amyloid-beta GO:1904645 9.26 MMP9 MMP2
10 cellular response to UV-A GO:0071492 9.16 MMP9 MMP2
11 extracellular matrix disassembly GO:0022617 9.13 MMP9 MMP7 MMP2
12 collagen catabolic process GO:0030574 8.8 MMP9 MMP7 MMP2

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 9.54 MMP9 MMP7 MMP2
2 peptidase activity GO:0008233 9.5 MMP9 MMP7 MMP2
3 serine-type endopeptidase activity GO:0004252 9.43 MMP9 MMP7 MMP2
4 metallopeptidase activity GO:0008237 9.33 MMP9 MMP7 MMP2
5 metalloendopeptidase activity GO:0004222 9.13 MMP9 MMP7 MMP2
6 endopeptidase activity GO:0004175 8.8 MMP9 MMP7 MMP2

Sources for Focal Myositis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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