MCID: FCL041
MIFTS: 40

Focal Myositis malady

Categories: Neuronal diseases, Rare diseases, Bone diseases

Aliases & Classifications for Focal Myositis

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Sources:
51Orphanet, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Focal Myositis:

Name: Focal Myositis 51
Focal Nodular Myositis 51 65
 
Inflammatory Pseudotumor of Skeletal Muscle 51
Myositis, Focal 65

Characteristics:

Orphanet epidemiological data:

51
focal nodular myositis:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet51 48918
ICD10 via Orphanet28 M60.8
UMLS via Orphanet66 C0751357
UMLS65 C0751357, C0409988

Summaries for Focal Myositis

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MalaCards based summary: Focal Myositis, also known as focal nodular myositis, is related to bullous pemphigoid and neuroblastoma, and has symptoms including myopathy, myositis and muscle weakness. An important gene associated with Focal Myositis is MMP2 (Matrix Metallopeptidase 2), and among its related pathways are Bladder cancer and Validated transcriptional targets of AP1 family members Fra1 and Fra2. Affiliated tissues include skeletal muscle, breast and endothelial, and related mouse phenotypes are tumorigenesis and hematopoietic system.

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 143)
idRelated DiseaseScoreTop Affiliating Genes
1bullous pemphigoid10.1MMP7, TGM2
2neuroblastoma10.1
3lymphoma10.1
4leri pleonosteosis10.0MMP2, MMP9
5mixed extragonadal germ cell cancer10.0MMP2, MMP9
6renal pelvis adenocarcinoma10.0MMP2, MMP9
7fibrous meningioma10.0MMP2, MMP9
8intrahepatic cholangiocarcinoma10.0MMP2, MMP9
9parotid disease10.0MMP2, MMP9
10gastric squamous cell carcinoma10.0MMP2, MMP9
11hernia of ovary and fallopian tube10.0MMP2, MMP9
12common bile duct neoplasm10.0MMP2, MMP9
13odontoma10.0MMP2, MMP9
14adenosarcoma of the uterus10.0MMP2, MMP9
15gastrointestinal carcinoma10.0MMP2, MMP9
16flat retinoschisis10.0MMP2, MMP9
17abnormal pupillary function10.0MMP2, MMP9
18umbilical hernia9.9MMP2, MMP9
19urinary tract obstruction9.9MMP2, MMP9
20bone ameloblastoma9.9MMP2, MMP9
21primary thrombocytopenia9.9MMP2, MMP9
22mannosidosis9.9MMP2, MMP9
23vasculitis9.9MMP2, MMP9
24myeloid leukemia9.9MMP2, MMP9
25alcohol-induced mental disorder9.9MMP2, MMP9
26pediatric t-cell leukemia9.9MMP7, MMP9
27oral leukoplakia9.9MMP2, MMP9
28immunodeficiency 27b, mycobacteriosis, ad9.9MMP7, MMP9
29focal cortical dysplasia, taylor balloon cell type9.9MMP2, MMP9
30hypothalamic disease9.9MMP2, MMP9
31grade iii astrocytoma9.9MMP7, MMP9
32bladder urachal adenocarcinoma9.9MMP2, MMP9
33benign eccrine breast spiradenoma9.9MMP2, MMP9
34lung cancer9.9
35asthma9.9
36breast cancer9.9
37biotinidase deficiency9.9
38renal cell carcinoma9.9
39williams-beuren syndrome9.9
40lymphangioleiomyomatosis9.9
41keratitis9.9
42ataxia-telangiectasia9.9
43insulin-like growth factor i9.9
44retinoschisis9.9
45deficiency anemia9.9
46chronic granulomatous disease9.9
47dengue hemorrhagic fever9.9
48follicular lymphoma9.9
49gastric cancer9.9
50hepatitis9.9

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:

 51 (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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Drugs for Focal Myositis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PrednisoneapprovedPhase 2, Phase 3126753-03-25865
Synonyms:
(1S,2R,10S,11S,14R,15S)-14-hydroxy-14-(2-hydroxyacetyl)-2,15-dimethyltetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadeca-3,6-diene-5,17-dione
(8S,9S,10R,13S,14S,17R)-17-hydroxy-17-(2-hydroxyacetyl)-10,13-dimethyl-6,7,8,9,12,14,15,16-octahydrocyclopenta[a]phenanthrene-3,11-dione
(8xi,9xi,14xi)-17,21-dihydroxypregna-1,4-diene-3,11,20-trione
.delta. E
.delta.(sup1)-Cortisone
.delta.-Cortelan
.delta.-Cortisone
.delta.-Cortone
.delta.-E
.delta.1-Cortisone
.delta.1-Dehydrocortisone
.delta.sone
1,2-Dehydrocortisone
1,4-Pregnadiene-17-alpha,21-diol-3,11,20-trione
1,4-Pregnadiene-17.alpha.,21-diol-3,11,20-trione
1,4-Pregnadiene-17alpha,21-diol-3,11,20-trione
1-Cortisone
1-Dehydrocortisone
17,21-Dihydroxypregna-1,4-diene-3,11,20-trione
17alpha,21-Dihydroxy-1,4-pregnadiene-3,11,20-trione
53-03-2
68-59-7
81552_FLUKA
AC-11112
AC1L1LB2
AC1Q29EZ
ACon0_000082
ACon1_000297
AI3-52939
Adasone
Ancortone
Apo-Prednisone
Apo-prednisone
BPBio1_000323
BRD-K85883481-001-04-2
BSPBio_000293
Betapar
Bicortone
Bio-0649
C07370
C21H26O5
CCRIS 2646
CHEBI:8382
CHEMBL635
CID5865
CPD001227202
Cartancyl
Colisone
Cortan
Cortancyl
Cortidelt
Cotone
DB00635
Dacorten
Dacortin
Decortancyl
Decortin
Decortisyl
Dehydrocortisone
Dekortin
Delcortin
Dellacort
Dellacort A
Delta Cortelan
Delta E
Delta E.
Delta-Cortelan
Delta-Dome
Delta-cortelan
Delta-cortisone
Delta-cortone
Delta-dome
Deltacortene
Deltacortisone
Deltacortone
Deltasone
Deltasone, Liquid Pred, Orasone, Adasone, Deltacortisone,Prednisone
Deltison
Deltisona
Deltisone
Deltra
Di-Adreson
Diadreson
EINECS 200-160-3
Econosone
Encorton
Encortone
Enkortolon
Enkorton
Fernisone
Fiasone
HMS1568O15
HMS2090J13
HSDB 3168
Hostacortin
In-Sone
Incocortyl
Juvason
 
Kortancyl
LMST02030180
LS-1325
Liquid Pred
Lisacort
Lodotra
MEGxm0_000443
MLS001061265
MLS001304073
MLS001335907
MLS001335908
MLS002154191
MLS002207083
Me-Korti
Metacortandracin
Meticorten
Meticorten (Veterinary)
Metrevet (Veterinary)
MolPort-001-740-041
NCGC00090766-01
NCGC00090766-02
NCGC00090766-03
NCI-C04897
NCI60_000008
NSC 10023
NSC10023
Nisona
Nizon
Novoprednisone
Nurison
Orasone
Origen Prednisone
P1276
P6254_SIGMA
PRD
Panafcort
Panasol
Paracort
Parmenison
Pehacort
Perrigo Prednisone
Precort
Predeltin
Prednicen-M
Prednicorm
Prednicort
Prednicot
Prednidib
Prednilonga
Prednison
Prednisona
Prednisona [INN-Spanish]
Prednisone
Prednisone Intensol
Prednisone [INN:BAN]
Prednisonum
Prednisonum [INN-Latin]
Prednitone
Prednizon
Prednovister
Presone
Prestwick0_000077
Prestwick1_000077
Prestwick2_000077
Prestwick3_000077
Prestwick_405
Pronison
Pronisone
Rayos
Rectodelt
Retrocortine
S1622_Selleck
SAM002264641
SK-Prednisone
SMR000718760
SMR001227202
SPBio_002214
Servisone
Sone
Sterapred
Supercortil
U 6020
UNII-VB0R961HZT
Ultracorten
Ultracortene
WLN: L E5 B666 CV OV AHTTT&J A1 E1 FV1Q FQ
Winpred
Wojtab
ZINC03875357
Zenadrid
Zenadrid (veterinary)
Zenadrid [veterinary]
delta cortelan
delta(sup 1)-Cortisone
delta(sup 1)-Dehydrocortisone
delta-1-Cortisone
delta-1-Dehydrocortisone
delta-Cortisone
delta-Cortone
2
MethotrexateapprovedPhase 2, Phase 314441959-05-2, 59-05-2126941
Synonyms:
4-amino-10-methylfolic acid
4-amino-N(10)-Methylpteroylglutamic acid
Abitrexate
Amethopterin
Amethopterine
Antifolan
Arbitrexate
Emtexate
Folex
HDMTX
L-Amethopterin
Ledertrexate
MTX
Metatrexan
Methopterin
Methotextrate
 
Methotrate
Methotrexat
Methotrexate
Methotrexate Sodium
Methotrexatum
Methylaminopterin
Methylaminopterinum
Metoject
Metotrexato
Mexate
Méthotrexate
N-Bismethylpteroylglutamic Acid
N-[4-[[(2,4-Diamino-6-pteridinyl)methyl]methylamino]benzoyl]-L-glutamic acid
Otrexup
Rasuvo
Rheumatrex
Rheumatrex Dose Pack
Trexall
3
Etanerceptapproved, investigationalPhase 2, Phase 3383185243-69-0
Synonyms:
185243-69-0
CD120b
D00742
Enbrel
Enbrel (TN)
Enbrel Sureclick
Etanercept
Etanercept (USAN/INN)
 
Etanercept (genetical recombination)
Etanercept (genetical recombination) (JAN)
TNF-R2
Tumor necrosis factor receptor 2
Tumor necrosis factor receptor superfamily member 1B precursor
Tumor necrosis factor receptor type II
etanercept
p75
p80 TNF-alpha receptor
4Calcium, Dietary4678

Interventional clinical trials:

idNameStatusNCT IDPhase
1Understanding the Pathogenesis and Treatment of Childhood Onset DermatomyositisTerminatedNCT00035958Phase 2, Phase 3
2myoARRAY and TcLandscape Analysis for the Diagnosis of Inflammatory MyopathiesCompletedNCT00213629
3Endomysial Fibrosis, Muscular Inflammatory Response and Calcium Homeostasis Dysfunction in Duchenne Muscular DystrophyRecruitingNCT01823783

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:

33
Skeletal muscle, Breast, Endothelial, Bone, Tongue, Monocytes, T cells

Animal Models for Focal Myositis or affiliated genes

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MGI Mouse Phenotypes related to Focal Myositis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.2MMP2, MMP7, MMP9, TGM2
2MP:00053978.0MMP2, MMP7, MMP9, TGM2
3MP:00053857.9MMP2, MMP7, MMP9, TGM2
4MP:00053877.7MMP2, MMP7, MMP9, TGM2

Publications for Focal Myositis

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Articles related to Focal Myositis:

(show top 50)    (show all 112)
idTitleAuthorsYear
1
Rare case of eosinophilic granulomatosis with polyangiitis in two patients with I+-1-antitrypsin deficiency (PiSZ). (27118743)
2016
2
Artery fistula causing aortic regurgitation in pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries. (25952246)
2015
3
Bilateral Striatopallidodentate Calcinosis associated with Systemic Lupus Erythematosus: Case report and review of literature. (26440422)
2015
4
Progesterone receptor status in determining the prognosis of estrogen receptor positive/ HER2 negative breast carcinoma patients. (25778292)
2015
5
Apolipoprotein E Is a Ligand for Triggering Receptor Expressed on Myeloid Cells 2 (TREM2). (26374899)
2015
6
Altered expression of apoptotic genes in response to OCT4B1 suppression in human tumor cell lines. (25008565)
2014
7
Hypoxia and human genome stability: downregulation of BRCA2 expression in breast cancer cell lines. (24171172)
2013
8
Management and outcome of 239 adolescent and adult rhabdomyosarcoma patients. (24156028)
2013
9
Febrile seizures in rural Tanzania: hospital-based incidence and clinical characteristics. (23619600)
2013
10
Intracavitary cardiac hydatid cysts with a high risk of thromboemboli : Invasive nature of cardiac echinococcosis. (23982833)
2013
11
Scar endometriosis in a patient with bladder exstrophy. (23701150)
2013
12
Characterization of fibrosis-promoting factors and siRNA-mediated therapies in C-protein-induced experimental autoimmune myocarditis. (23099153)
2012
13
Increased risk of ovarian hyperstimulation syndrome following controlled ovarian hyperstimulation in patients with vascular endothelial growth factor +405 cc genotype. (22587628)
2012
14
Impact of genetic factors (VKORC1, CYP2C9, CYP4F2 and EPHX1) on the anticoagulation response to fluindione. (21883387)
2012
15
Single nucleotide polymorphisms of Toll-like receptor 4 decrease the risk of development of hepatocellular carcinoma. (21559380)
2011
16
Oligomannose-coated liposomes efficiently induce human T-cell leukemia virus-1-specific cytotoxic T lymphocytes without adjuvant. (21332943)
2011
17
Polymorphism in the GALNT1 gene and epithelial ovarian cancer in non-Hispanic white women: the Ovarian Cancer Association Consortium. (20142253)
2010
18
Diagnostic accuracy of 64 multidetector computed tomographic angiography in peripheral vascular disease. (19753637)
2010
19
Is an endothelial nitric oxide synthase gene mutation a risk factor in the origin of intraventricular hemorrhage? (20043715)
2010
20
Nucleotide dependent cysteine reactivity of hGBP1 uncovers a domain movement during GTP hydrolysis. (19463820)
2009
21
Cutaneous metastasis of gastric adenocarcinoma: an exuberant and unusual clinical presentation. (19094846)
2008
22
Endovascular approaches to complex thoracic aortic disease. (19033271)
2008
23
The active metabolite of leflunomide A771726 inhibits corneal neovascularization. (18563344)
2008
24
SCN5A R1193Q polymorphism associated with progressive cardiac conduction defects and long QT syndrome in a Chinese family. (18245395)
2008
25
No association of the MCP-1 promoter A-2518G polymorphism with bipolar disorder in the Korean population. (17928143)
2007
26
Modulation of PPAR activity via phosphorylation. (17560826)
2007
27
CD147 immunoglobulin superfamily receptor function and role in pathology. (17945211)
2007
28
Hepatitis B infection as a possible cause of focal segmental glomerulosclerosis (FSGS). (16724663)
2006
29
Major histocompatibility complex class II molecules promote human immunodeficiency virus type 1 assembly and budding to late endosomal/multivesicular body compartments. (16973583)
2006
30
Identification by full-coverage array CGH of human DNA copy number increases relative to chimpanzee and gorilla. (16365383)
2006
31
Immunoscreening of a cDNA library from a lung cancer cell line using autologous patient serum: Identification of XAGE-1b as a dominant antigen and its immunogenicity in lung adenocarcinoma. (14696120)
2004
32
Rickettsialpox: report of three cases and a review. (15577753)
2004
33
Detection of PML/RARalpha gene rearrangement in suspected acute promyelocytic leukemia patients using dual-color fluorescence in situ hybridization on bone marrow smears]. (15631655)
2004
34
Serum levels of tissue polypeptide specific antigen are correlated with hepatocyte cytokeratin expression in alcoholic liver disease. (15365314)
2004
35
Hypoglycemia, defective islet glucagon secretion, but normal islet mass in mice with a disruption of the gastrin gene. (14517799)
2003
36
Measurements of phospholipases A2, C, and D (PLA2, PLC, and PLD). In vitro microassays, analysis of enzyme isoforms, and intact-cell assays. (12616720)
2003
37
Hypoxia-mediated tumour targeting. (12646859)
2003
38
Mechanism of nickel assault on the zinc finger of DNA repair protein XPA. (12588196)
2003
39
Typical features of craniofacial growth of the FGFR3-associated coronal synostosis syndrome (so-called Muenke craniosynostosis)]. (12764678)
2003
40
The creatine kinase system is essential for optimal refill of the sarcoplasmic reticulum Ca2+ store in skeletal muscle. (11734556)
2002
41
Autonomic modulation and atrial fibrillation in the Wolff-Parkinson-White syndrome. (10802014)
2000
42
Coupling of dopamine receptor subtypes to multiple and diverse G proteins. (10978845)
2000
43
Warfarin resistance induced by teicoplanin. (9407741)
1997
44
Resistance to diverse drugs and ultraviolet light conferred by overexpression of a novel human 26 S proteasome subunit. (9374539)
1997
45
Mono ADP-ribosylation of transducin catalyzed by rod outer segment extract. (1516716)
1992
46
Functional analysis of cis-linked regulatory sequences in the HLA DRA promoter by transcription in vitro. (2278044)
1990
47
Diffuse leiomyomatosis of the uterus: a report of four cases. (3692674)
1987
48
Risk of familial breast cancer. (4005803)
1985
49
Sociological factors in the spread of variola minor in a semi-rural school district. (5239071)
1968
50
Black hairy tongue. (21065055)
1946

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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GO Terms for genes affiliated with Focal Myositis

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

idNameGO IDScoreTop Affiliating Genes
1embryo implantationGO:00075669.5MMP2, MMP9
2ephrin receptor signaling pathwayGO:00480139.4MMP2, MMP9
3collagen catabolic processGO:00305749.1MMP2, MMP9
4proteolysisGO:00065089.1MMP2, MMP9
5extracellular matrix disassemblyGO:00226178.2MMP2, MMP7, MMP9

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

idNameGO IDScoreTop Affiliating Genes
1zinc ion bindingGO:00082709.3MMP2, MMP7
2metalloendopeptidase activityGO:00042228.9MMP2, MMP7, MMP9

Sources for Focal Myositis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet