MCID: FCL041
MIFTS: 44

Focal Myositis malady

Neuronal, Bone categories

Summaries for Focal Myositis

Sources:
47OMIM, 33MalaCards
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MalaCards: Focal Myositis, also known as focal nodular myositis, is related to arthritis and squamous cell carcinoma, and has symptoms including muscle weakness/flaccidity, restricted joint mobility/joint stiffness/ankylosis and myopathy. 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 Degradation of the extracellular matrix. The compounds flavanol and cgs-27023a have been mentioned in the context of this disorder. Affiliated tissues include tongue and skeletal muscle, and related mouse phenotypes are tumorigenesis and homeostasis/metabolism.

Description from OMIM:47 160750

Aliases & Classifications for Focal Myositis

Sources:
49Orphanet, 47OMIM, 61UMLS, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
focal nodular myositis:
Inheritance: Sporadic; Prevalence: <1/1000000; Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

focal myositis 49 47
focal nodular myositis 49 61
inflammatory pseudotumor of skeletal muscle 49
myositis, focal 61


External Ids:

OMIM47 160750
ICD10 via Orphanet26 M60.8
UMLS via Orphanet62 C0751357

Related Diseases for Focal Myositis

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 63)
idRelated DiseaseScoreTop Affiliating Genes
1arthritis30.0MMP9, MMP2
2squamous cell carcinoma30.0MMP2, MMP7, MMP9, TGM2
3radiculopathy10.4
4polymyositis10.2
5proteus syndrome10.0
6mixed connective tissue disease10.0
7becker muscular dystrophy10.0
8phaeochromocytoma10.0
9adenocarcinoma10.0
10synovitis10.0
11vasculitis10.0
12macroglossia10.0
13lymphocytic vasculitis10.0
14encephalomyelitis10.0MMP7
15chondrosarcoma10.0MMP7
16gastritis10.0MMP7
17myositis10.0DMD
18dilated cardiomyopathy10.0DMD
19amyotrophic lateral sclerosis10.0TGM2
20neuropathy10.0DMD
21myasthenia gravis10.0DMD
22liver cirrhosis10.0MMP7
23myocarditis10.0DMD
24pulmonary emphysema10.0MMP9
25dermatitis herpetiformis10.0TGM2
26kawasaki disease10.0MMP9
27leukemia10.0DMD
28asthma10.0MMP9
29pulmonary disease, chronic obstructive10.0MMP9
30laryngeal carcinoma10.0MMP2
31periodontal disease10.0MMP2
32periodontitis10.0MMP9
33vascular disease10.0MMP2
34ischemia10.0DMD, TGM2
35multiple sclerosis10.0MMP9, MMP7
36myopathy10.0DMD
37idiopathic pulmonary fibrosis10.0MMP7, MMP9
38tongue cancer10.0MMP2, MMP9
39conjunctivochalasis10.0MMP2, MMP9
40abdominal aortic aneurysm10.0MMP2, MMP9
41aneurysm disease10.0MMP2, MMP9
42endometriosis10.0MMP2, MMP7
43oral cancer10.0MMP2, MMP9
44bladder carcinoma in situ10.0MMP9, MMP2
45osteoarthritis10.0MMP2, MMP9
46lung adenocarcinoma10.0MMP2, MMP7, MMP9
47stomach cancer10.0MMP9, MMP7, MMP2
48lung cancer10.0MMP9, MMP7, MMP2
49prostate cancer10.0MMP2, MMP7, MMP9
50astrocytoma10.0DMD, MMP2, MMP9

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



Diseases related to focal myositis

Clinical Features for Focal Myositis

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

160750

Clinical synopsis from OMIM:

160750

Symptoms:

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

Drugs & Therapeutics for Focal Myositis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Focal Myositis

Drug clinical trials:

Search ClinicalTrials for Focal Myositis

Search NIH Clinical Center for Focal Myositis

Search CenterWatch for Focal Myositis

Genetic Tests for Focal Myositis

Anatomical Context for Focal Myositis

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Focal Myositis:

33
Tongue, Skeletal muscle

Animal Models for Focal Myositis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Focal Myositis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.5MMP9, MMP7
2MP:00053769.1TGM2, DMD
3MP:00053859.1TGM2, MMP7, DMD
4MP:00053918.0DMD, MMP2, MMP7, MMP9
5MP:00053877.5DMD, MMP2, MMP7, MMP9, TGM2
6MP:00107687.5TGM2, MMP9, MMP7, MMP2, DMD

Publications for Focal Myositis

Sources:
51PubMed
See all sources

Articles related to Focal Myositis:

(show top 50)    (show all 106)
idTitleAuthorsYear
1
Acute focal myositis causing significant radiological and histological abnormality settles spontaneously with expectant management. (24336581)
2013
2
Intramuscular inoculation of cattle with Sarcocystis antigen results in focal eosinophilic myositis. (21852041)
2012
3
Orbital myositis associated with focal active colitis in a teenage girl. (22009155)
2012
4
Focal myositis of the thigh misdiagnosed radiologically as rhabdomyosarcoma. (22700615)
2011
5
Recurrent focal myositis in an infant: a report of the youngest case. (21166916)
2010
6
All-trans retinoic acid-induced focal myositis, synovitis, and mononeuritis. (20009973)
2009
7
Disseminated Histoplasma capsulatum infection presenting with panniculitis and focal myositis in rheumatoid arthritis treated with etanercept. (19444717)
2009
8
Distal-symmetric focal inflammatory myopathy distinct from focal myositis and polymyositis. (19609922)
2009
9
MR imaging findings of focal myositis: a pseudotumour that may mimic muscle neoplasm. (19255757)
2009
10
Focal myositis of the calf muscles. (19032842)
2008
11
Expression of transglutaminase 2 does not differentiate focal myositis from generalized inflammatory myopathies. (18005224)
2008
12
Recurrent focal myositis presenting as flexion contractures of the fingers. (17993438)
2007
13
Inflammatory focal myositis of the sternomastoid muscle: is there an absolute indication for biopsy? A case report and review of the literature. (16362267)
2006
14
Fine needle aspiration cytology of focal myositis: a case report. (16450907)
2005
15
Specific matrix metalloproteinase expression in focal myositis: an immunopathological study. (16097959)
2005
16
Focal myositis. Description of a case and review of the literature. (15382589)
2004
17
Reversible focal myositis in a patient taking venlafaxine. (15564641)
2004
18
HLA typing in focal myositis. (15546587)
2004
19
A muscular lesion suggestive of focal myositis in a child with Proteus syndrome. (12439276)
2002
20
Bilateral recurrent focal myositis of gastrocnemius muscles after BCG vaccination. (12209048)
2002
21
Cholesterol crystal embolization simulating focal myositis. (11394629)
2001
22
Focal myositis - a new presentation. (10706844)
2000
23
Focal myositis: a review of 100 previously published cases and a report of 2 new cases. (10544855)
1999
24
Focal myositis: a new HLA-DR4 0401 associated disease? (10555921)
1999
25
The dropped head syndrome: rehabilitation of cervical focal myositis. (10608653)
1999
26
Focal myositis: magnetic resonance imaging findings and peripheral arterial administration of prednisolone. (10638778)
1999
27
Recurrent focal myositis. (10587565)
1999
28
Focal myositis. (9586683)
1998
29
Focal myositis of the sternocleidomastoid muscle. (9775308)
1998
30
Magnetic resonance imaging and focal myositis. (9779866)
1998
31
Focal myositis of esophagus: a distinct inflammatory pseudotumor mimicking esophageal malignancy. (8995969)
1997
32
Grand round--University Hospital of Wales. Focal myositis mimicking acute psoas abscess. (9081002)
1997
33
Focal myositis of the floor of mouth: report of two cases and review of the literature. (8734704)
1996
34
Focal myositis presenting as pseudothrombophlebitis of the neck in a patient with mixed connective tissue disease. (8670340)
1996
35
Magnetic resonance imaging: a useful technique in the diagnosis and follow up of focal myositis. (8976647)
1996
36
Focal myositis of the sternocleidomastoid muscle: a case report and review of the literature. (8827284)
1996
37
Relapsing focal myositis: a case report. (7554571)
1995
38
Focal myositis: a clinicopathological study. (7580245)
1995
39
Focal myositis. (7699673)
1995
40
Focal myositis. A new cause for the pediatric neck mass. (1986753)
1991
41
Focal myositis, a benign inflammatory pseudotumour: CT appearances. (2070176)
1991
42
Squamous cell carcinoma masquerading as focal myositis of the tongue. (2753704)
1989
43
Focal myositis in the hand. (3351219)
1988
44
Focal myositis and its differential diagnosis. A case report and review of the literature. (3293581)
1988
45
Focal myositis and elevated creatine kinase levels in a patient with phaeochromocytoma. (3714605)
1986
46
Focal myositis mimicking posttreatment pain of periradicular origin. (3457896)
1986
47
Focal myositis of the tongue: report of a case. (3869221)
1985
48
Focal myositis of the rectus abdominal muscles. (3157288)
1985
49
Focal myositis of the neck. (468219)
1979
50
Focal myositis. (880559)
1977

Genetic Variations for Focal Myositis

Expression for genes affiliated with Focal Myositis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Focal Myositis

Search GEO for disease gene expression data for Focal Myositis.

Pathways for genes affiliated with Focal Myositis

Sources:
38NCBI BioSystems Database, 54Reactome, 53R&D Systems, 4Cell Signaling Technology, 52QIAGEN, 12EMD Millipore
See all sources

Pathways related to Focal Myositis according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4MMP9, MMP7
2
Hide members
9.2MMP7, MMP2
39.0MMP2, MMP9
49.0MMP9, MMP2
59.0MMP2, MMP9
69.0MMP9, MMP2
79.0MMP2, MMP9
89.0MMP9, MMP2
99.0MMP9, MMP2
109.0MMP2, MMP9
118.6MMP2, MMP7, MMP9
128.6MMP2, MMP7, MMP9
13
Hide members
8.6MMP2, MMP7, MMP9
14
Hide members
8.6MMP9, MMP7, MMP2
158.6MMP9, MMP7, MMP2
16
Cell adhesion ECM remodeling
Hide members
8.6MMP9, MMP7, MMP2
17
Hide members
8.6MMP9, MMP7, MMP2
188.6MMP9, MMP7, MMP2
19
Hide members
8.1DMD, MMP2, MMP7, MMP9

Compounds for genes affiliated with Focal Myositis

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 2BitterDB, 60Tocris Bioscience, 50PharmGKB, 24HMDB
See all sources

Compounds related to Focal Myositis according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1flavanol459.5MMP2, MMP9
2cgs-27023a459.5MMP2, MMP9
3methyl selenol459.5MMP2, MMP9
4col 3459.5MMP2, MMP9
5prinomastat459.4MMP9, MMP2
6trapidil459.4MMP9, MMP2
7ilomastat459.4MMP9, MMP2
8lercanidipine45 1110.4MMP9, MMP2
9tranilast459.4MMP2, MMP9
10gelfoam459.4MMP9, MMP2
11latanoprost45 1110.4MMP2, MMP9
12cilomilast459.4MMP2, MMP9
13hydroxamate459.4MMP9, MMP2
14zoledronic acid459.4MMP9, MMP2
15ciglitazone45 2910.4MMP2, MMP9
168-isoprostane459.3MMP9, MMP2
17hematoxylin459.3DMD, MMP9
181,10-phenanthroline45 210.3MMP2, MMP9
19ns 39845 6010.3MMP9, MMP2
203-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide459.3MMP9, MMP2
21silymarin459.3MMP9, MMP2
22ribavirin45 50 1111.2MMP2, MMP9
23fibrinogen459.2TGM2, MMP9, MMP7
24hydroxyproline45 11 2411.2MMP2, MMP9
25erythromycin45 50 2 1112.2MMP9, MMP2
26ivig459.1MMP9, MMP2
27doxycycline45 1110.1MMP9, MMP2
28succinate459.0MMP9, DMD
29celecoxib45 60 29 50 11 2414.0MMP9, MMP2
30(4-aminophenyl)mercuric acetate459.0MMP9, MMP7, MMP2
31uk 383367609.0MMP2, MMP7, MMP9
32gi 254023x609.0MMP2, MMP7, MMP9
33gm 6001609.0MMP2, MMP7, MMP9
34marimastat45 60 1111.0MMP9, MMP7, MMP2
35batimastat45 60 1111.0MMP2, MMP7, MMP9
36pioglitazone45 50 29 1112.0MMP2, MMP7, MMP9
37ag 1478459.0MMP9, MMP7, MMP2
38egcg459.0MMP9, MMP7, MMP2
39matrigel458.9MMP2, MMP7, MMP9
40ribonucleic acid458.9MMP2, MMP7, MMP9
41serine458.9DMD, MMP2, MMP9
42paraffin458.9MMP9, MMP7, MMP2
43proline458.8DMD, MMP2, MMP9
44creatinine458.7MMP9, MMP2, DMD
45zinc45 249.4MMP9, MMP7, MMP2, DMD
46retinoic acid45 249.4TGM2, MMP9, MMP7, MMP2
47alanine458.4DMD, MMP2, MMP9, TGM2
48cysteine458.0TGM2, MMP9, MMP7, MMP2, DMD
49tyrosine458.0MMP9, MMP7, MMP2, DMD
50calcium45 50 11 2410.9TGM2, MMP9, MMP7, MMP2, DMD

GO Terms for genes affiliated with Focal Myositis

Sources:
16Gene Ontology
See all sources

Cellular components related to Focal Myositis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:0055788.6MMP9, MMP7, MMP2

Biological processes related to Focal Myositis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1embryo implantationGO:0075668.7MMP9, MMP2
2collagen catabolic processGO:0305748.6MMP9, MMP7, MMP2
3proteolysisGO:0065088.6MMP9, MMP7, MMP2
4extracellular matrix disassemblyGO:0226178.5MMP2, MMP7, MMP9
5extracellular matrix organizationGO:0301988.1MMP9, MMP7, MMP2, DMD

Molecular functions related to Focal Myositis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1metalloendopeptidase activityGO:0042228.3MMP9, MMP7, MMP2
2zinc ion bindingGO:0082708.1MMP9, MMP7, MMP2, DMD

Products for genes affiliated with Focal Myositis

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  • Proteins
  • Lysates
  • Antibodies

Sources for Focal Myositis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet