MCID: FCL041
MIFTS: 43

Focal Myositis malady

Neuronal diseases, Rare diseases, Bone diseases categories

Summaries for Focal Myositis

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MalaCards based summary: Focal Myositis, also known as focal nodular myositis, is related to arthritis and adenocarcinoma, and has symptoms including myopathy, myositis and muscle weakness. An important gene associated with Focal Myositis is MMP7 (matrix metallopeptidase 7 (matrilysin, uterine)), and among its related pathways are Syndecan-1-mediated signaling events and Collagen biosynthesis and modifying enzymes. The compounds flavanol and cgs-27023a have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and tongue, and related mouse phenotypes are renal/urinary system and tumorigenesis.

Aliases & Classifications for Focal Myositis

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Sources:
47Orphanet, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Focal Myositis, Aliases & Descriptions:

Name: Focal Myositis 47
Focal Nodular Myositis 47 60
 
Inflammatory Pseudotumor of Skeletal Muscle 47
Myositis, Focal 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Neuronal diseases, Bone diseases


Characteristics (Orphanet epidemiological data):

47
focal nodular myositis:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy


External Ids:

Orphanet47 48918
ICD10 via Orphanet26 M60.8
UMLS via Orphanet61 C0751357

Related Diseases for Focal Myositis

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

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1arthritis30.1MMP2, MMP9
2adenocarcinoma29.6MMP2, MMP9, MMP7
3myositis11.1
4radiculopathy10.4
5brain disease10.3MMP2
6myopathy10.3
7cervicitis10.2
8polymyositis10.2
9rheumatoid arthritis10.1
10muscle hypertrophy10.1
11multiple system atrophy10.1
12mixed connective tissue disease10.1
13phaeochromocytoma10.1
14connective tissue disease10.1
15esophagitis10.1
16fasciitis10.1
17mononeuritis10.1
18panniculitis10.1
19rhabdomyosarcoma10.1
20synovitis10.1
21vasculitis10.1
22macroglossia10.1
23paraneoplastic syndromes10.1
24endometriosis10.0MMP2, MMP7
25pulmonary fibrosis, idiopathic10.0MMP9, MMP7
26tongue cancer10.0MMP9, MMP2
27conjunctivochalasis10.0MMP2, MMP9
28abdominal aortic aneurysm10.0MMP9, MMP2
29keratitis10.0MMP2, MMP9
30bladder cancer, somatic10.0MMP2, MMP9
31aneurysm10.0MMP2, MMP9
32grade iii astrocytoma10.0MMP2, MMP9
33oral cancer9.9MMP9, MMP2
34congenital heart disease9.9MMP2, MMP9
35cork-handlers' disease9.9MMP7, MMP9
36fibrosarcoma9.9MMP9, MMP2
37malignant glioma9.8MMP2, MMP9
38periodontal disease9.8MMP2, MMP9, MMP7
39pulmonary fibrosis9.8MMP7, MMP9, MMP2
40lung cancer susceptibility 39.8MMP7, MMP9, MMP2
41endometrial cancer9.8MMP7, MMP9, MMP2
42stomach cancer9.8MMP2, MMP9, MMP7
43kidney cancer9.8MMP7, MMP9, MMP2
44ovarian cancer, somatic9.8MMP2, MMP9, MMP7
45lung cancer9.8MMP7, MMP9, MMP2
46astrocytoma9.8MMP2, MMP9, DMD
47gastric cancer, somatic9.8MMP2, MMP9, MMP7
48atherosclerosis9.7TGM2, MMP9, MMP2
49hepatocellular carcinoma9.7MMP2, MMP9, MMP7
50colorectal cancer9.7MMP7, MMP9, MMP2

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



Diseases related to focal myositis

Symptoms for Focal Myositis

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Symptoms:

 47 (show all 9)
  • myopathy
  • myositis
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • muscle weakness/flaccidity
  • myalgia/muscular pain
  • restricted joint mobility/joint stiffness/ankylosis
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • fever/chilling
  • asthenia/fatigue/weakness

HPO human phenotypes related to Focal Myositis:

(show all 7)
id Description Frequency HPO Source Accession
1 myopathy hallmark (90%) HP:0003198
2 myositis hallmark (90%) HP:0100614
3 muscle weakness occasional (7.5%) HP:0001324
4 limitation of joint mobility occasional (7.5%) HP:0001376
5 weight loss occasional (7.5%) HP:0001824
6 myalgia occasional (7.5%) HP:0003326
7 abnormality of temperature regulation occasional (7.5%) HP:0004370

Drugs & Therapeutics for Focal Myositis

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Drug clinical trials:

Search ClinicalTrials for Focal Myositis

Search NIH Clinical Center for Focal Myositis

Genetic Tests for Focal Myositis

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Anatomical Context for Focal Myositis

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MalaCards organs/tissues related to Focal Myositis:

31
Skeletal muscle, Tongue

Animal Models for Focal Myositis or affiliated genes

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MGI Mouse Phenotypes related to Focal Myositis:

35 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.6MMP9, TGM2, DMD
2MP:00020068.3TGM2, MMP7, MMP9, MMP2
3MP:00053918.2DMD, MMP7, MMP9, MMP2
4MP:00053848.1MMP9, MMP7, TGM2, DMD
5MP:00053857.8MMP2, MMP9, MMP7, TGM2, DMD
6MP:00053977.8DMD, TGM2, MMP7, MMP9, MMP2
7MP:00053877.7MMP2, MMP9, MMP7, TGM2, DMD
8MP:00036317.7DMD, TGM2, MMP9, MMP2
9MP:00053787.7DMD, TGM2, MMP7, MMP9, MMP2
10MP:00053767.6MMP2, MMP9, MMP7, TGM2, DMD
11MP:00107687.5DMD, TGM2, MMP7, MMP9, MMP2

Publications for Focal Myositis

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Articles related to Focal Myositis:

(show top 50)    (show all 110)
idTitleAuthorsYear
1
Focal Myositis in paediatric age. (25878988)
2015
2
Ischaemia due to a vascular malformation causing focal myositis. (25155485)
2014
3
Recurrent Focal myositis: a rare inflammatory myopathy. (24859416)
2014
4
Clinical images: Focal myositis demonstrated on positron emission tomography. (24974825)
2014
5
Statin-induced focal myositis of the upper extremity. A report of two cases. (21232890)
2011
6
Focal myositis of the thigh misdiagnosed radiologically as rhabdomyosarcoma. (22700615)
2011
7
Recurrent focal myositis in an infant: a report of the youngest case. (21166916)
2010
8
All-trans retinoic acid-induced focal myositis, synovitis, and mononeuritis. (20009973)
2009
9
Focal myositis of the calf muscles. (19032842)
2008
10
Expression of transglutaminase 2 does not differentiate focal myositis from generalized inflammatory myopathies. (18005224)
2008
11
Dropped-head syndrome due to steroid responsive focal myositis: a case report and review of the literature. (17964603)
2008
12
Focal myositis of the calf following S1 radiculopathy. (18206215)
2008
13
Camptocormia associated with focal myositis in multiple-system atrophy. (16211611)
2006
14
Inflammatory focal myositis of the sternomastoid muscle: is there an absolute indication for biopsy? A case report and review of the literature. (16362267)
2006
15
Relapsing focal myositis: the localization detected by gallium citrate Ga 67 scintigraphy. (16344354)
2005
16
Fine needle aspiration cytology of focal myositis: a case report. (16450907)
2005
17
Focal myositis of the sternocleidomastoid muscle. (15632930)
2005
18
Focal myositis associated with S-1 radiculopathy: report of two cases. (14981746)
2004
19
Focal myositis in monozygotic twins. (15335189)
2004
20
A muscular lesion suggestive of focal myositis in a child with Proteus syndrome. (12439276)
2002
21
Focal myositis of the thigh: unusual MR pattern. (11981609)
2002
22
Focal myositis. (11531762)
2001
23
Focal myositis in the mylohyoid muscle of an adult. (10709172)
2000
24
Focal myositis - a new presentation. (10706844)
2000
25
Focal myositis: a review of 100 previously published cases and a report of 2 new cases. (10544855)
1999
26
Focal myositis presenting with radial nerve palsy. (10398220)
1999
27
Focal myositis: a new HLA-DR4 0401 associated disease? (10555921)
1999
28
S-1 radiculopathy as a possible predisposing factor in focal myositis with unilateral hypertrophy of the calf muscles. (10540038)
1999
29
Focal myositis. (9638840)
1998
30
Focal myositis: a polymerase chain reaction analysis for a viral etiology. (9013843)
1997
31
Focal myositis of the floor of mouth: report of two cases and review of the literature. (8734704)
1996
32
Focal myositis presenting as pseudothrombophlebitis of the neck in a patient with mixed connective tissue disease. (8670340)
1996
33
Relapsing focal myositis: a case report. (7554571)
1995
34
Focal myositis: a clinicopathological study. (7580245)
1995
35
Focal myositis of the tongue--a pseudotumoral lesion. (7797208)
1995
36
Focal myositis: another cause of pseudothrombophlebitis. (8068109)
1994
37
Focal myositis of the temporal muscle. (8232395)
1993
38
Focal myositis of the thigh: report of two cases. (8256575)
1993
39
Focal myositis: an unusual cause of bilateral upper eyelid swellings. (8290436)
1993
40
Idiopathic recurrent non-suppurative focal myositis: a report of two cases. (8252323)
1993
41
Calf enlargement, S1 radiculopathy, and focal myositis. (1565123)
1992
42
Focal myositis. A new cause for the pediatric neck mass. (1986753)
1991
43
Squamous cell carcinoma masquerading as focal myositis of the tongue. (2753704)
1989
44
Focal myositis in the hand. (3351219)
1988
45
Focal myositis and its differential diagnosis. A case report and review of the literature. (3293581)
1988
46
Focal myositis and elevated creatine kinase levels in a patient with phaeochromocytoma. (3714605)
1986
47
Focal myositis mimicking posttreatment pain of periradicular origin. (3457896)
1986
48
Focal myositis of the tongue: report of a case. (3869221)
1985
49
Focal myositis of the neck. (468219)
1979
50
Focal myositis. (880559)
1977

Variations for Focal Myositis

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Expression for genes affiliated with Focal Myositis

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Search GEO for disease gene expression data for Focal Myositis.

Pathways for genes affiliated with Focal Myositis

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

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2MMP9, MMP7
2
Show member pathways
9.2MMP9, MMP7
39.0MMP2, MMP9
49.0MMP9, MMP2
59.0MMP9, MMP2
69.0MMP2, MMP9
79.0MMP2, MMP9
89.0MMP9, MMP2
99.0MMP2, MMP9
109.0MMP2, MMP9
119.0MMP2, MMP9
129.0MMP9, MMP2
13
Show member pathways
Metalloproteases in connective tissue degradation
8.6MMP7, MMP9, MMP2
148.6MMP7, MMP9, MMP2
158.6MMP7, MMP9, MMP2
168.6MMP2, MMP9, MMP7
17
Show member pathways
8.6MMP2, MMP9, MMP7
188.6MMP2, MMP9, MMP7
19
Show member pathways
8.6MMP2, MMP9, MMP7
20
Show member pathways
8.6MMP2, MMP9, MMP7
21
Show member pathways
8.1MMP2, MMP9, MMP7, DMD

Compounds for genes affiliated with Focal Myositis

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

(show top 50)    (show all 76)
idCompoundScoreTop Affiliating Genes
1flavanol439.5MMP9, MMP2
2cgs-27023a439.5MMP9, MMP2
3col 3439.5MMP2, MMP9
4methyl selenol439.4MMP2, MMP9
5prinomastat439.4MMP9, MMP2
6trapidil439.4MMP2, MMP9
7lercanidipine43 1210.4MMP9, MMP2
8ilomastat439.4MMP9, MMP2
9tranilast439.4MMP2, MMP9
10gelfoam439.4MMP2, MMP9
11latanoprost43 1210.4MMP2, MMP9
12cilomilast439.4MMP2, MMP9
13hydroxamate439.4MMP2, MMP9
14zoledronic acid439.4MMP2, MMP9
15ciglitazone43 2810.3MMP2, MMP9
168-isoprostane439.3MMP9, MMP2
171,10-phenanthroline43 210.3MMP2, MMP9
18ns 39843 5910.3MMP2, MMP9
193-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide439.3MMP2, MMP9
20silymarin439.3MMP9, MMP2
21hydroxyproline43 24 1211.2MMP9, MMP2
22erythromycin43 2 49 1212.2MMP2, MMP9
23ivig439.1MMP2, MMP9
24ribavirin43 49 1211.1MMP2, MMP9
25doxycycline43 1210.0MMP9, MMP2
26celecoxib43 59 28 49 24 1214.0MMP2, MMP9
27hematoxylin439.0MMP9, DMD
28(4-aminophenyl)mercuric acetate439.0MMP2, MMP9, MMP7
29uk 383367599.0MMP7, MMP9, MMP2
30gi 254023x599.0MMP7, MMP9, MMP2
31gm 6001599.0MMP7, MMP9, MMP2
32fibrinogen439.0TGM2, MMP7, MMP9
33marimastat43 59 1211.0MMP2, MMP9, MMP7
34batimastat43 59 1211.0MMP2, MMP9, MMP7
35pioglitazone28 43 49 1212.0MMP2, MMP9, MMP7
36ag 1478439.0MMP7, MMP9, MMP2
37egcg439.0MMP2, MMP9, MMP7
38matrigel438.9MMP2, MMP9, MMP7
39ribonucleic acid438.9MMP2, MMP9, MMP7
40paraffin438.9MMP7, MMP9, MMP2
41succinate438.8MMP9, DMD
42proline438.8MMP2, MMP9, DMD
43creatinine438.7MMP2, MMP9, DMD
44zinc43 249.4DMD, MMP7, MMP9, MMP2
45retinoic acid43 249.4TGM2, MMP7, MMP9, MMP2
46alanine438.4DMD, TGM2, MMP9, MMP2
47tyrosine438.3MMP2, MMP9, MMP7, DMD
48cysteine438.0DMD, TGM2, MMP7, MMP9, MMP2
49serine438.0DMD, TGM2, MMP7, MMP9, MMP2
50calcium43 49 24 1210.9DMD, TGM2, MMP7, MMP9, MMP2

GO Terms for genes affiliated with Focal Myositis

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

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056158.6MMP2, MMP9, MMP7
2proteinaceous extracellular matrixGO:00055788.3MMP2, MMP9, MMP7

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

idNameGO IDScoreTop Affiliating Genes
1embryo implantationGO:00075669.0MMP2, MMP9
2collagen catabolic processGO:00305748.6MMP2, MMP9, MMP7
3extracellular matrix disassemblyGO:00226178.5MMP7, MMP9, MMP2
4proteolysisGO:00065088.3MMP2, MMP9, MMP7
5extracellular matrix organizationGO:00301988.1MMP2, MMP9, MMP7, DMD

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

idNameGO IDScoreTop Affiliating Genes
1metalloendopeptidase activityGO:00042228.3MMP2, MMP9, MMP7
2zinc ion bindingGO:00082708.1MMP2, MMP9, MMP7, DMD

Products for genes affiliated with Focal Myositis

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  • Kits and Assays

Sources for Focal Myositis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet