MCID: FCL041
MIFTS: 40

Focal Myositis malady

Neuronal diseases, Bone diseases categories

Summaries for Focal Myositis

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46OMIM, 32MalaCards
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MalaCards: Focal Myositis, also known as focal nodular myositis, is related to myositis and myopathy, and has symptoms including asthenia/fatigue/weakness, fever/chilling and weight loss/loss of appetite/break in weight curve/general health alteration. 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 cgs-27023a and flavanol have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related mouse phenotypes are tumorigenesis and homeostasis/metabolism.

Description from OMIM:46 160750

Aliases & Classifications for Focal Myositis

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48Orphanet, 46OMIM, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
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


Aliases & Descriptions:

focal myositis 48 46
focal nodular myositis 48 60
inflammatory pseudotumor of skeletal muscle 48
myositis, focal 60


External Ids:

OMIM46 160750
ICD10 via Orphanet26 M60.8
UMLS via Orphanet61 C0751357

Related Diseases for Focal Myositis

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Focal Myositis:



Diseases related to focal myositis

Clinical Features for Focal Myositis

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46OMIM, 48Orphanet
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Clinical features from OMIM:

160750

Symptoms:

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

Drugs & Therapeutics for Focal Myositis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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Anatomical Context for Focal Myositis

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32MalaCards
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MalaCards organs/tissues related to Focal Myositis:

32
Skeletal muscle

Animal Models for Focal Myositis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Focal Myositis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.5MMP7, MMP9
2MP:00053769.1DMD, TGM2
3MP:00053859.1TGM2, MMP7, DMD
4MP:00053918.0MMP2, MMP7, MMP9, DMD
5MP:00053877.5DMD, MMP2, MMP7, MMP9, TGM2
6MP:00107687.5TGM2, MMP7, MMP2, DMD, MMP9

Publications for Focal Myositis

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Genetic Variations for Focal Myositis

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Expression for genes affiliated with Focal Myositis

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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37NCBI BioSystems Database, 53Reactome, 52R&D Systems, 51QIAGEN, 4Cell Signaling Technology, 12EMD Millipore
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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
39.0MMP9, MMP2
49.0MMP2, MMP9
59.0MMP2, MMP9
69.0MMP9, MMP2
79.0MMP2, MMP9
89.0MMP2, MMP9
99.0MMP9, MMP2
109.0MMP9, MMP2
118.6MMP7, MMP2, MMP9
12
Hide members
8.6MMP9, MMP7, MMP2
13
Hide members
8.6MMP9, MMP2, MMP7
148.6MMP9, MMP2, MMP7
15
Cell adhesion ECM remodeling
Hide members
8.6MMP7, MMP9, MMP2
168.6MMP7, MMP9, MMP2
178.6MMP9, MMP7, MMP2
18
Hide members
8.6MMP9, MMP2, MMP7
19
Hide members
8.1DMD, MMP9, MMP2, MMP7

Compounds for genes affiliated with Focal Myositis

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Sources:
44Novoseek, 11DrugBank, 28IUPHAR, 2BitterDB, 59Tocris Bioscience, 24HMDB, 49PharmGKB
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Compounds related to Focal Myositis according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1cgs-27023a449.5MMP2, MMP9
2flavanol449.5MMP9, MMP2
3methyl selenol449.5MMP9, MMP2
4col 3449.5MMP2, MMP9
5prinomastat449.4MMP2, MMP9
6trapidil449.4MMP2, MMP9
7ilomastat449.4MMP9, MMP2
8lercanidipine44 1110.4MMP9, MMP2
9tranilast449.4MMP2, MMP9
10gelfoam449.4MMP9, MMP2
11cilomilast449.4MMP2, MMP9
12latanoprost44 1110.4MMP9, MMP2
13hydroxamate449.4MMP2, MMP9
14zoledronic acid449.4MMP9, MMP2
15ciglitazone44 2810.4MMP2, MMP9
168-isoprostane449.3MMP2, MMP9
17hematoxylin449.3MMP9, DMD
181,10-phenanthroline44 210.3MMP9, MMP2
19ns 39844 5910.3MMP2, MMP9
203-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide449.3MMP2, MMP9
21silymarin449.3MMP2, MMP9
22hydroxyproline44 11 2411.2MMP9, MMP2
23fibrinogen449.2TGM2, MMP7, MMP9
24ribavirin44 49 1111.2MMP2, MMP9
25erythromycin44 49 2 1112.2MMP2, MMP9
26ivig449.1MMP9, MMP2
27doxycycline44 1110.1MMP2, MMP9
28succinate449.0DMD, MMP9
29celecoxib44 59 28 49 11 2414.0MMP9, MMP2
30(4-aminophenyl)mercuric acetate449.0MMP2, MMP7, MMP9
31gi 254023x599.0MMP7, MMP9, MMP2
32gm 6001599.0MMP7, MMP9, MMP2
33uk 383367599.0MMP9, MMP7, MMP2
34marimastat44 59 1111.0MMP9, MMP7, MMP2
35batimastat44 59 1111.0MMP2, MMP7, MMP9
36pioglitazone44 49 28 1112.0MMP7, MMP9, MMP2
37ag 1478449.0MMP2, MMP7, MMP9
38egcg449.0MMP2, MMP9, MMP7
39matrigel448.9MMP2, MMP9, MMP7
40ribonucleic acid448.9MMP2, MMP9, MMP7
41serine448.9DMD, MMP9, MMP2
42paraffin448.9MMP2, MMP7, MMP9
43proline448.8DMD, MMP2, MMP9
44creatinine448.7MMP2, MMP9, DMD
45zinc44 249.4DMD, MMP2, MMP7, MMP9
46retinoic acid44 249.4TGM2, MMP9, MMP7, MMP2
47alanine448.4MMP9, DMD, MMP2, TGM2
48cysteine448.0MMP9, MMP7, MMP2, DMD, TGM2
49tyrosine448.0MMP7, DMD, MMP2, MMP9
50calcium44 49 11 2410.9DMD, MMP9, TGM2, MMP7, MMP2

GO Terms for genes affiliated with Focal Myositis

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16Gene Ontology
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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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet