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 flavanol and cgs-27023a 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:00020069.5MMP9, 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

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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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Sources:
37NCBI BioSystems Database, 53Reactome, 52R&D Systems, 4Cell Signaling Technology, 51QIAGEN, 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
39.0MMP2, 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

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

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

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