MCID: FCL041
MIFTS: 42

Focal Myositis malady

Categories: Neuronal diseases, Bone diseases, Rare diseases

Aliases & Classifications for Focal Myositis

Aliases & Descriptions 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 appendiceal l-cell glucagon-like peptide producing tumor, 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 87)
id Related Disease Score Top Affiliating Genes
1 myositis 10.6
2 appendiceal l-cell glucagon-like peptide producing tumor 10.1 MMP2 MMP7
3 facio skeletal genital syndrome rippberger type 10.0 MMP2 MMP9
4 leukoencephalopathy palmoplantar keratoderma 10.0 MMP2 MMP9
5 thymus adenocarcinoma 10.0 MMP2 MMP9
6 spinal meninges cancer 10.0 MMP2 MMP9
7 neonatal hypoxic and ischemic brain injury 10.0 MMP2 MMP9
8 viral meningitis 10.0 MMP2 MMP9
9 lymphocytic colitis 10.0 MMP2 MMP9
10 adenocarcinoma in situ 10.0 MMP2 MMP9
11 appendix carcinoid tumor 10.0 MMP2 MMP9
12 corneal staphyloma 10.0 MMP2 MMP9
13 schwannomatosis 10.0 MMP2 MMP9
14 striated muscle rhabdoid tumor 10.0 MMP2 MMP9
15 retinal artery occlusion 10.0 MMP2 MMP9
16 bulbomembranous urethral cancer 10.0 MMP2 MMP9
17 adult neuronal ceroid lipofuscinosis 10.0 MMP2 MMP9
18 maxillary neoplasm 10.0 MMP2 MMP9
19 breast papillary carcinoma 10.0 MMP2 MMP9
20 adenoid squamous cell carcinoma 10.0 MMP2 MMP9
21 onychocytic matricoma 10.0 MMP2 MMP9
22 trichomalacia 10.0 MMP2 MMP9
23 severe acute respiratory syndrome 10.0 MMP2 MMP9
24 laryngostenosis 10.0 MMP2 MMP9
25 nodular cutaneous amyloidosis 10.0 MMP2 MMP9
26 breast abscess 10.0 MMP2 MMP9
27 brain meningioma 10.0 MMP7 MMP9
28 chronic polyneuropathy 10.0 MMP2 MMP9
29 cystic lymphangioma 10.0 MMP7 MMP9
30 maxillary sinus cholesteatoma 10.0 MMP2 MMP9
31 penis agenesis 10.0 MMP7 MMP9
32 traumatic brain injury 10.0 MMP2 MMP9
33 chondrodysplasia punctata, rhizomelic, type 1 10.0 MMP7 MMP9
34 marginal zone b-cell lymphoma 10.0 MMP2 MMP9
35 lattice corneal dystrophy 10.0 MMP2 MMP9
36 vascular dementia 10.0 MMP2 MMP9
37 cavernous malformation 10.0 MMP2 MMP9
38 ornithinemia 9.9 MMP2 MMP9
39 central nervous system teratoma 9.9 MMP2 MMP9
40 radiculopathy 9.9
41 mixed ductal-endocrine carcinoma 9.9 MMP2 MMP9
42 burns 9.9 MMP7 MMP9
43 parametrium malignant neoplasm 9.9 MMP2 MMP9
44 juvenile astrocytoma 9.9 MMP2 MMP9
45 puerperal pulmonary embolism 9.9 MMP2 MMP9
46 histiocytosis 9.9 MMP2 MMP9
47 pediatric osteosarcoma 9.9 MMP2 MMP9
48 in situ pulmonary adenocarcinoma 9.9 MMP2 MMP9
49 bardet-biedl syndrome 9.9 MMP2 MMP9
50 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 9.8 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 (29-5%) HP:0001324
2 limitation of joint mobility 56 32 Occasional (29-5%) HP:0001376
3 weight loss 56 32 Occasional (29-5%) HP:0001824
4 fever 56 32 Occasional (29-5%) HP:0001945
5 elevated serum creatine phosphokinase 56 32 Frequent (79-30%) HP:0003236
6 myalgia 56 32 Occasional (29-5%) HP:0003326
7 myositis 56 32 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 MMP2 MMP7 MMP9 TGM2
2 neoplasm MP:0002006 8.92 MMP2 MMP7 MMP9 TGM2

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 54575, 6560146 143
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 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
11 Analgesics, Non-Narcotic Phase 2, Phase 3
12 Dermatologic Agents Phase 2, Phase 3
13 Hormone Antagonists Phase 2, Phase 3
14 Hormones Phase 2, Phase 3
15 Peripheral Nervous System Agents Phase 2, Phase 3
16 Hormones, Hormone Substitutes, and Hormone Antagonists 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
1 Understanding the Pathogenesis and Treatment of Childhood Onset Dermatomyositis Terminated NCT00035958 Phase 2, Phase 3
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 117)
id Title Authors Year
1
Focal myositis: A review. ( 27726926 )
2016
2
Recurrent Bilateral Focal Myositis. ( 27853086 )
2016
3
Focal myositis presenting as pseudothrombophlebitis of the arm. ( 26626630 )
2016
4
Core biopsy as a simple and effective diagnostic tool in head and neck focal myositis. ( 26670758 )
2015
5
Iliopsoas Sarcoma-Induced Femoral Mononeuropathy Radiologically Presenting as Focal Myositis of the Thigh: A Case Report. ( 26390395 )
2015
6
Focal myositis: Sonographic findings. ( 25759132 )
2015
7
Focal Myositis in paediatric age. ( 25878988 )
2015
8
Recurrent Focal myositis: a rare inflammatory myopathy. ( 24859416 )
2014
9
Ischaemia due to a vascular malformation causing focal myositis. ( 25155485 )
2014
10
Focal myositis of lower extremity responsive to botulinum A toxin. ( 24614669 )
2014
11
Clinical images: Focal myositis demonstrated on positron emission tomography. ( 24974825 )
2014
12
Focal Myositis around Hip Joint: 3 Cases Report. ( 27536581 )
2014
13
Acute exacerbation of previously undiagnosed chronic focal myositis in an Aboriginal patient on maintenance haemodialysis. ( 25342033 )
2014
14
Rapid progressive focal myositis of the head and neck region: a case report. ( 24429642 )
2014
15
Acute focal myositis causing significant radiological and histological abnormality settles spontaneously with expectant management. ( 24336581 )
2013
16
Ultrasound-guided closed muscle biopsy: a useful tool for rheumatologists : case report: recurrent focal myositis of the gastrocnemius muscle. ( 22095391 )
2013
17
Unilateral calf hypertrophy and focal myositis induced by S1 radiculopathy: dramatic response to steroid treatment. ( 24081596 )
2013
18
Unilateral muscle hypertrophy and focal myositis following S1 radiculopathy. ( 23728114 )
2013
19
A case of Behcet's syndrome presenting as focal myositis. ( 22271758 )
2012
20
Focal myositis--neurogenic phenomenon? ( 22153989 )
2012
21
Focal myositis of unilateral leg. ( 22506226 )
2011
22
Statin-induced focal myositis of the upper extremity. A report of two cases. ( 21232890 )
2011
23
Focal myositis: a paraneoplastic syndrome? ( 21498103 )
2011
24
Focal myositis of the thigh misdiagnosed radiologically as rhabdomyosarcoma. ( 22700615 )
2011
25
Recurrent focal myositis in an infant: a report of the youngest case. ( 21166916 )
2010
26
Statin-associated focal myositis. ( 18155787 )
2009
27
Disseminated Histoplasma capsulatum infection presenting with panniculitis and focal myositis in rheumatoid arthritis treated with etanercept. ( 19444717 )
2009
28
Focal myositis of the tongue presenting as macroglossia. ( 20055851 )
2009
29
Distal-symmetric focal inflammatory myopathy distinct from focal myositis and polymyositis. ( 19609922 )
2009
30
All-trans retinoic acid-induced focal myositis, synovitis, and mononeuritis. ( 20009973 )
2009
31
Focal myositis: a clinicopathologic study of 115 cases of an intramuscular mass-like reactive process. ( 19363438 )
2009
32
MR imaging findings of focal myositis: a pseudotumour that may mimic muscle neoplasm. ( 19255757 )
2009
33
Focal myositis of the calf following S1 radiculopathy. ( 18206215 )
2008
34
Dropped-head syndrome due to steroid responsive focal myositis: a case report and review of the literature. ( 17964603 )
2008
35
Expression of transglutaminase 2 does not differentiate focal myositis from generalized inflammatory myopathies. ( 18005224 )
2008
36
Focal myositis of the calf muscles. ( 19032842 )
2008
37
Recurrent focal myositis presenting as flexion contractures of the fingers. ( 17993438 )
2007
38
Focal myositis of the iliopsoas muscle--a benign pseudotumour: ultrasound appearance in correlation with CT and MRI. ( 16612727 )
2006
39
Camptocormia associated with focal myositis in multiple-system atrophy. ( 16211611 )
2006
40
Inflammatory focal myositis of the sternomastoid muscle: is there an absolute indication for biopsy? A case report and review of the literature. ( 16362267 )
2006
41
Relapsing focal myositis: the localization detected by gallium citrate Ga 67 scintigraphy. ( 16344354 )
2005
42
Focal myositis with fasciitis and vasculitis revealing chronic lymphocytic leukaemia. ( 15941726 )
2005
43
Focal myositis of the sternocleidomastoid muscle. ( 15632930 )
2005
44
Fine needle aspiration cytology of focal myositis: a case report. ( 16450907 )
2005
45
Specific matrix metalloproteinase expression in focal myositis: an immunopathological study. ( 16097959 )
2005
46
Focal myositis associated with S-1 radiculopathy: report of two cases. ( 14981746 )
2004
47
Left gluteal focal myositis in a patient with signet ring adenocarcinoma of the stomach: not a paraneoplastic phenomenon. ( 14968264 )
2004
48
Reversible focal myositis in a patient taking venlafaxine. ( 15564641 )
2004
49
Focal myositis. Description of a case and review of the literature. ( 15382589 )
2004
50
Focal myositis in monozygotic twins. ( 15335189 )
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 21)
id 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 11.65 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 11.27 MMP2 MMP7 MMP9
13 11.19 MMP2 MMP9
14
Show member pathways
11.15 MMP2 MMP9
15 11.02 MMP2 MMP9
16 10.99 MMP2 MMP9
17 10.95 MMP2 MMP7 MMP9
18 10.85 MMP2 MMP9
19 10.82 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:

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 peptidase activity GO:0008233 9.43 MMP2 MMP7 MMP9
2 serine-type endopeptidase activity GO:0004252 9.33 MMP2 MMP7 MMP9
3 metallopeptidase activity GO:0008237 9.13 MMP2 MMP7 MMP9
4 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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