MCID: FCL041
MIFTS: 50

Focal Myositis malady

Neuronal diseases, Rare diseases, Bone diseases categories
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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 abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase. 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, tongue and bone, and related mouse phenotypes are renal/urinary system and tumorigenesis.

Aliases & Classifications for Focal Myositis

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Sources:
48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Focal Myositis, Aliases & Descriptions:

Name: Focal Myositis 48
Focal Nodular Myositis 48 62
 
Inflammatory Pseudotumor of Skeletal Muscle 48
Myositis, Focal 62


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
focal nodular myositis:
Inheritance: Sporadic; Prevalence: <1/1000000; Age of onset: Adulthood; Age of death: Normal


External Ids:

ICD10 via Orphanet26 M60.8
UMLS via Orphanet63 C0751357

Related Diseases for Focal Myositis

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

(show top 50)    (show all 61)
idRelated DiseaseScoreTop Affiliating Genes
1arthritis30.1MMP9, MMP2
2adenocarcinoma29.6MMP9, MMP7, MMP2
3myositis11.1
4radiculopathy10.4
5prion disease10.3MMP2
6myopathy10.3
7cervicitis10.2
8polymyositis10.2
9becker muscular dystrophy10.1
10multiple system atrophy10.1
11parkinson's disease10.1
12rheumatoid arthritis10.1
13proteus syndrome10.1
14phaeochromocytoma10.1
15mixed connective tissue disease10.1
16connective tissue disease10.1
17esophagitis10.1
18fasciitis10.1
19mononeuritis10.1
20muscular dystrophy10.1
21panniculitis10.1
22rhabdomyosarcoma10.1
23synovitis10.1
24vasculitis10.1
25macroglossia10.1
26paraneoplastic syndromes10.1
27endometriosis10.0MMP2, MMP7
28idiopathic pulmonary fibrosis10.0MMP9, MMP7
29tongue cancer10.0MMP9, MMP2
30conjunctivochalasis10.0MMP9, MMP2
31abdominal aortic aneurysm10.0MMP9, MMP2
32keratitis10.0MMP2, MMP9
33bladder carcinoma in situ10.0MMP9, MMP2
34aneurysm10.0MMP2, MMP9
35grade iii astrocytoma10.0MMP9, MMP2
36oral cancer9.9MMP2, MMP9
37congenital heart disease9.9MMP2, MMP9
38cork-handlers' disease9.9MMP7, MMP9
39fibrosarcoma9.9MMP9, MMP2
40malignant glioma9.8MMP2, MMP9
41periodontal disease9.8MMP9, MMP2, MMP7
42pulmonary fibrosis9.8MMP7, MMP9, MMP2
43lung adenocarcinoma9.8MMP2, MMP9, MMP7
44endometrial carcinoma9.8MMP2, MMP9, MMP7
45lung cancer9.8MMP2, MMP9, MMP7
46kidney cancer9.8MMP7, MMP2, MMP9
47ovarian cancer9.8MMP7, MMP2, MMP9
48non-small cell lung carcinoma9.8MMP7, MMP2, MMP9
49astrocytoma9.8MMP9, MMP2, DMD
50stomach cancer9.8MMP7, 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:

48 (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:

32
Skeletal muscle, Tongue, Bone

Animal Models for Focal Myositis or affiliated genes

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MGI Mouse Phenotypes related to Focal Myositis:

36 (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 108)
idTitleAuthorsYear
1
Ischaemia due to a vascular malformation causing focal myositis. (25155485)
2014
2
Recurrent Focal myositis: a rare inflammatory myopathy. (24859416)
2014
3
Clinical images: Focal myositis demonstrated on positron emission tomography. (24974825)
2014
4
Statin-induced focal myositis of the upper extremity. A report of two cases. (21232890)
2011
5
Focal myositis of the thigh misdiagnosed radiologically as rhabdomyosarcoma. (22700615)
2011
6
Recurrent focal myositis in an infant: a report of the youngest case. (21166916)
2010
7
All-trans retinoic acid-induced focal myositis, synovitis, and mononeuritis. (20009973)
2009
8
Focal myositis of the tongue presenting as macroglossia. (20055851)
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
Relapsing focal myositis: the localization detected by gallium citrate Ga 67 scintigraphy. (16344354)
2005
15
Fine needle aspiration cytology of focal myositis: a case report. (16450907)
2005
16
Focal myositis of the sternocleidomastoid muscle. (15632930)
2005
17
Focal myositis associated with S-1 radiculopathy: report of two cases. (14981746)
2004
18
Focal myositis in monozygotic twins. (15335189)
2004
19
A muscular lesion suggestive of focal myositis in a child with Proteus syndrome. (12439276)
2002
20
Focal myositis of the thigh: unusual MR pattern. (11981609)
2002
21
Focal myositis. (11531762)
2001
22
Becker muscular dystrophy associated with focal myositis on bone scintigraphy. (11129135)
2000
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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Expression patterns in normal tissues for genes affiliated with Focal Myositis

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Pathways for genes affiliated with Focal Myositis

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Pathways related to Focal Myositis according to GeneCards/GeneDecks:

(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
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/GeneDecks:

(show top 50)    (show all 76)
idCompoundScoreTop Affiliating Genes
1flavanol449.5MMP9, MMP2
2cgs-27023a449.5MMP9, MMP2
3methyl selenol449.5MMP2, MMP9
4col 3449.4MMP2, MMP9
5prinomastat449.4MMP2, MMP9
6trapidil449.4MMP9, MMP2
7ilomastat449.4MMP2, MMP9
8lercanidipine44 1110.4MMP2, MMP9
9tranilast449.4MMP9, MMP2
10gelfoam449.4MMP2, MMP9
11latanoprost44 1110.4MMP2, MMP9
12cilomilast449.4MMP2, MMP9
13hydroxamate449.4MMP2, MMP9
14zoledronic acid449.4MMP2, MMP9
15ciglitazone44 2810.3MMP2, MMP9
168-isoprostane449.3MMP2, MMP9
171,10-phenanthroline44 210.3MMP2, MMP9
18ns 39844 6110.3MMP9, MMP2
193-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide449.3MMP9, MMP2
20silymarin449.3MMP9, MMP2
21hydroxyproline44 24 1111.2MMP9, MMP2
22erythromycin44 2 50 1112.2MMP9, MMP2
23ivig449.1MMP9, MMP2
24ribavirin44 50 1111.1MMP2, MMP9
25doxycycline44 1110.0MMP9, MMP2
26celecoxib44 61 28 50 24 1114.0MMP9, MMP2
27hematoxylin449.0MMP9, DMD
28(4-aminophenyl)mercuric acetate449.0MMP2, MMP7, MMP9
29gi 254023x619.0MMP7, MMP2, MMP9
30gm 6001619.0MMP7, MMP9, MMP2
31uk 383367619.0MMP2, MMP9, MMP7
32fibrinogen449.0TGM2, MMP9, MMP7
33marimastat44 61 1111.0MMP2, MMP9, MMP7
34batimastat44 61 1111.0MMP2, MMP9, MMP7
35pioglitazone28 44 50 1112.0MMP9, MMP2, MMP7
36ag 1478449.0MMP9, MMP2, MMP7
37egcg449.0MMP2, MMP7, MMP9
38matrigel448.9MMP2, MMP9, MMP7
39ribonucleic acid448.9MMP9, MMP2, MMP7
40paraffin448.9MMP7, MMP9, MMP2
41succinate448.8DMD, MMP9
42proline448.8DMD, MMP9, MMP2
43creatinine448.7MMP2, MMP9, DMD
44zinc44 249.4MMP7, MMP9, MMP2, DMD
45retinoic acid44 249.4MMP9, TGM2, MMP7, MMP2
46alanine448.4TGM2, MMP2, DMD, MMP9
47tyrosine448.3MMP2, DMD, MMP9, MMP7
48cysteine448.0DMD, TGM2, MMP7, MMP9, MMP2
49serine448.0TGM2, MMP7, MMP2, MMP9, DMD
50calcium44 50 24 1110.9TGM2, MMP9, MMP2, DMD, MMP7

GO Terms for genes affiliated with Focal Myositis

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

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.6MMP2, MMP9, MMP7
2proteinaceous extracellular matrixGO:0055788.3MMP2, MMP9, MMP7

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

idNameGO IDScoreTop Affiliating Genes
1embryo implantationGO:0075669.0MMP2, MMP9
2collagen catabolic processGO:0305748.6MMP2, MMP9, MMP7
3extracellular matrix disassemblyGO:0226178.5MMP7, MMP9, MMP2
4proteolysisGO:0065088.3MMP2, MMP9, MMP7
5extracellular matrix organizationGO:0301988.1MMP2, MMP9, MMP7, DMD

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

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

Products for genes affiliated with Focal Myositis

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Sources for Focal Myositis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet