EF
MCID: ESN015
MIFTS: 61

Eosinophilic Fasciitis (EF) malady

Rare diseases, Neuronal diseases, Bone diseases categories

Summaries for Eosinophilic Fasciitis

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Eosinophilic fasciitis is a very rare condition in which muscle tissue underneath the skin, called fascia, becomes swollen and thick. rapid swelling can occur in the hands, arms, legs, and feet. people with this condition have a buildup of eosinophils, a type of white blood cell, in the affected fascia and muscles.Ā the exact cause of this condition is unknown. fewer than 300 cases have been reported in the past 35 years. eosinophilic fasciitis is similar in appearance to scleroderma but is not related. last updated: 11/1/2011

MalaCards: Eosinophilic Fasciitis, also known as shulman syndrome, is related to eosinophilia-myalgia syndrome and eosinophilia, and has symptoms including fasciitis, muscular sclerosis and muscular edema. An important gene associated with Eosinophilic Fasciitis is IL5 (interleukin 5 (colony-stimulating factor, eosinophil)), and among its related pathways are Regulation of nuclear SMAD2/3 signaling and IL4-mediated signaling events. The compounds mcp 1 and praziquantel have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and thyroid, and related mouse phenotypes are renal/urinary system and reproductive system.

Wikipedia:66 Eosinophilic fasciitis /?i?.?s?n??fi?l?k ?f more...

Description from OMIM:48 226350

Aliases & Classifications for Eosinophilic Fasciitis

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44NIH Rare Diseases, 46Novoseek, 50Orphanet, 48OMIM, 63UMLS, 27ICD10 via Orphanet, 64UMLS via Orphanet, 60SNOMED-CT via Orphanet, 26ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
eosinophilic fasciitis:
Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

eosinophilic fasciitis 44 46 50 48
shulman syndrome 44 50
fasciitis with eosinophilia syndrome 63
diffuse fasciitis with eosinophilia 50
eosinophilic synovitis 63
ef 44


External Ids:

OMIM48 226350
ICD10 via Orphanet27 M35.4
UMLS via Orphanet64 C0264005
SNOMED-CT via Orphanet60 24129002
ICD1026 M35.4

Related Diseases for Eosinophilic Fasciitis

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Eosinophilic Fasciitis:



Diseases related to eosinophilic fasciitis

Symptoms for Eosinophilic Fasciitis

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

226350

Clinical features from OMIM:

226350

Symptoms:

50 (show all 18)
  • fasciitis
  • muscular sclerosis
  • muscular edema
  • eosinophils anomalies/hypereosinophilia
  • cellulitis/panniculitis/pseudocellulitis/inflammation of subcutaneous tissue
  • arthritis/synovitis/synovial proliferation
  • asthenia/fatigue/weakness
  • articular/joint pain/arthralgia
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • acrocyanosis/raynaud's phenomenon/vasomotor disorders
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • macules
  • cutaneous edema
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • myalgia/muscular pain
  • myositis
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  • dermal/subcutaneous infiltration/induration

Drugs & Therapeutics for Eosinophilic Fasciitis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Eosinophilic Fasciitis

Drug clinical trials:

Search ClinicalTrials for Eosinophilic Fasciitis

Search NIH Clinical Center for Eosinophilic Fasciitis

Search CenterWatch for Eosinophilic Fasciitis

Genetic Tests for Eosinophilic Fasciitis

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Anatomical Context for Eosinophilic Fasciitis

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34MalaCards
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MalaCards organs/tissues related to Eosinophilic Fasciitis:

34
Skin, Bone, Thyroid, T cells, Bone marrow, Kidney, Lymph node, Colon, Breast, Myeloid

Animal Models for Eosinophilic Fasciitis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Eosinophilic Fasciitis:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.6TRB, IFNG, AHR
2MP:00053898.1IL10, IL5, IFNG, AHR
3MP:00107718.1AHR, IFNG, IL10, TRB
4MP:00053858.0AHR, IFNG, IL10, TRB
5MP:00053868.0IL10, IL5, IFNG, AHR
6MP:00020067.8TRB, IL10, IL5, IFNG, AHR
7MP:00053707.8AHR, IFNG, IL5, IL10, TRB
8MP:00053887.8AHR, IFNG, IL5, IL10, TRB
9MP:00053817.8TRB, IL10, IL5, IFNG, AHR
10MP:00053977.7AHR, IFNG, IL5, IL10, TRB
11MP:00053877.7AHR, IFNG, IL5, IL10, TRB
12MP:00036317.7AHR, IFNG, IL10, TRB
13MP:00053787.7TRB, IL10, IL5, IFNG, AHR

Publications for Eosinophilic Fasciitis

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53PubMed
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Articles related to Eosinophilic Fasciitis:

(show top 50)    (show all 323)
idTitleAuthorsYear
1
Usefulness of FDG PET/CT in the Diagnosis of Eosinophilic Fasciitis. (24152641)
2013
2
Orthopedic considerations with eosinophilic fasciitis: a case report and literature review. (23227395)
2012
3
Unusual skin involvement in eosinophilic fasciitis. (21070330)
2011
4
AHR activation by tryptophan--pathogenic hallmark of Th17-mediated inflammation in eosinophilic fasciitis, eosinophilia-myalgia-syndrome and toxic oil syndrome? (19941898)
2010
5
Eosinophilic fasciitis in a duathlete. (19451771)
2009
6
Physical burden of symptoms in patients with localized scleroderma and eosinophilic fasciitis. (18936410)
2008
7
Eosinophilic fasciitis successfully treated with cyclosporine. (15864687)
2005
8
Cytokine abnormalities in a patient with eosinophilic fasciitis. (12722970)
2003
9
Elevated serum levels of manganese superoxide dismutase in patients with eosinophilic fasciitis. (14677046)
2003
10
Extracorporeal photochemotherapy in the treatment of eosinophilic fasciitis. (12602960)
2003
11
Eosinophilic fasciitis with multiple myeloma: a new haematological association. (12429547)
2002
12
Analysis of leukemia inhibitory factor, type 1 and type 2 cytokine production in patients with eosinophilic fasciitis. (11196547)
2001
13
Eosinophilic fasciitis presenting as pitting edema of the extremities. (11566463)
2001
14
Scleroderma-like syndrome in a child: eosinophilic fasciitis or scleredema adultorum? (10923227)
2000
15
Eosinophilic fasciitis--progression to linear scleroderma: a case report. (10770102)
1999
16
Lymph-node-based malignant lymphoma and reactive lymphadenopathy in eosinophilic fasciitis. (10555099)
1999
17
Possible association between eosinophilic fasciitis and subcutaneous heparin use. (9489839)
1998
18
Eosinophilic fasciitis with myelodysplasia responsive to treatment with cyclosporin. (9068764)
1997
19
Elevated serum eosinophilic cationic protein (ECP) and expression of pemphigus-like antibodies in a case of eosinophilic fasciitis. (9196881)
1997
20
Serum and synovial fluid levels of interleukin-5 in a patient with eosinophilic fasciitis. (9014593)
1996
21
Systemic lupus erythematosus and eosinophilic fasciitis: an unusual association. (8549105)
1995
22
Association of eosinophilic fasciitis, multiple morphea and antiphospholipid antibody. (7949491)
1994
23
Familial eosinophilic fasciitis and breast cancer. (8162468)
1994
24
Eosinophilic fasciitis in children frequently progresses to scleroderma-like cutaneous fibrosis. (8441144)
1993
25
Comparison of the pathology of fascia in eosinophilic myalgia syndrome patients and idiopathic eosinophilic fasciitis. (8435512)
1993
26
Childhood eosinophilic fasciitis presenting as inflammatory polyarthritis and associated with selective IgA deficiency. (1929589)
1991
27
Eosinophilic fasciitis associated with use of L-tryptophan: a case-control study and comparison of clinical and histopathologic features. (1921498)
1991
28
Eosinophilic fasciitis. Increased collagen production and type I procollagen messenger RNA levels in fibroblasts cultured from involved skin. (2334180)
1990
29
Capillary microscopy during eosinophilic fasciitis in 15 patients: distinction from systemic scleroderma. (2346160)
1990
30
Conjunctival chemosis in eosinophilic fasciitis. (2606225)
1989
31
Eosinophilic fasciitis in children. (2690343)
1989
32
Overlap syndromes, mixed connective tissue disease, and eosinophilic fasciitis. (2702056)
1989
33
Rheumatoid arthritis with eosinophilic fasciitis and pure red cell aplasia. (2509696)
1989
34
Eosinophilic fasciitis: clinical spectrum and therapeutic response in 52 cases. (3232080)
1988
35
Frequency, levels, and significance of blood eosinophilia in systemic sclerosis, localized scleroderma, and eosinophilic fasciitis. (3668010)
1987
36
Eosinophilic fasciitis presenting as inflammatory polyarthritis. (3748691)
1986
37
Eosinophilic fasciitis in a two-year-old child. (4026891)
1985
38
Eosinophilic fasciitis in an African--possible benefit of chloroquine treatment. (6494091)
1984
39
Eosinophilic fasciitis--a case with hypogammaglobulinaemia. (6744652)
1984
40
Cimetidine and eosinophilic fasciitis. (6859693)
1983
41
Eosinophilic fasciitis: new associations and current perspectives. (7218260)
1981
42
Polymyositis in eosinophilic fasciitis. Review and case report. (7389757)
1980
43
A new case of eosinophilic fasciitis. (7398999)
1980
44
The eosinophilic fasciitis syndrome after phenytoin (dilantin) therapy. (7441663)
1980
45
Cutaneous sclerosis in eosinophilic fasciitis. (510651)
1979
46
Eosinophilic fasciitis with megakaryocyte aplasia. (552438)
1979
47
Eosinophilic fasciitis. A case report. (441869)
1979
48
Eosinophilic fasciitis. (686723)
1978
49
Eosinophilic fasciitis: a scleroderma-like illness. (576278)
1977
50
Proceedings: Eosinophilic fasciitis. Report of six cases of a newly recognized scleroderma-like syndrome. (1191357)
1975

Variations for Eosinophilic Fasciitis

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Expression for genes affiliated with Eosinophilic Fasciitis

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Eosinophilic Fasciitis

Search GEO for disease gene expression data for Eosinophilic Fasciitis.

Pathways for genes affiliated with Eosinophilic Fasciitis

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Sources:
51PathCards, 39NCBI BioSystems Database, 61Thomson Reuters, 55R&D Systems, 31KEGG, 54QIAGEN
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Pathways related to Eosinophilic Fasciitis according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4IL5, IL10
29.4IL10, IL5
39.2IL5, IFNG
4
Show member pathways
Calcium signaling in the CD4+ TCR pathway39
9.2IFNG, IL5
59.2IL5, IFNG
6
Show member pathways
Immune response IL 12 induced IFN gamma production61
9.1TRB, IFNG
7
Show member pathways
Transcription NF kB signaling pathway61
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response61
9.1TRB, IFNG
8
Show member pathways
IL27-mediated signaling events39
9.0IFNG, IL10
99.0IL10, IFNG
10
Show member pathways
IL23-mediated signaling events39
Immune response IL 10 signaling pathway61
Angiopoietin receptor Tie2-mediated signaling39
Development PDGF signaling via STATs and NF kB61
Development Angiopoietin Tie2 signaling61
9.0IL10, IFNG
119.0IL10, IFNG
129.0IFNG, IL10
13
Show member pathways
9.0IL10, IFNG
14
Show member pathways
8.6IFNG, IL5, IL10
15
Show member pathways
8.6IFNG, IL5, IL10
16
Show member pathways
Type III interferon signaling39
8.6IFNG, IL5, IL10
178.6IL10, IL5, IFNG
188.6IL10, IL5, IFNG
19
Show member pathways
8.6IL10, IL5, IFNG
20
Show member pathways
8.6IL10, IL5, IFNG
21
Show member pathways
BCR signaling pathway39
TCR Signaling Pathway39
8.1IFNG, IL5, IL10, TRB
228.1TRB, IL10, IL5, IFNG

Compounds for genes affiliated with Eosinophilic Fasciitis

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Sources:
46Novoseek, 12DrugBank, 62Tocris Bioscience, 52PharmGKB, 30IUPHAR, 25HMDB, 3BitterDB
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Compounds related to Eosinophilic Fasciitis according to GeneCards/GeneDecks:

(show top 50)    (show all 76)
idCompoundScoreTop Affiliating Genes
1mcp 1469.7IL5, IL10
2praziquantel46 1210.7IL5, IL10
38 methoxypsoralen469.7AHR, IL10
4as 10146 6210.7IL5, IL10
5montelukast46 52 30 1212.6IL10, IL5
6pirfenidone46 6210.5IFNG, IL5
7amphotericin b469.5IFNG, IL5
8betaseron469.4IL10, IFNG
9interferon gamma469.4IFNG, IL10
10alpha-galactosylceramide469.4IFNG, IL10
11tuberculin469.4IL10, IFNG
12l-tryptophan52 30 46 25 1213.3IFNG, IL5
13natalizumab46 1210.3IFNG, IL10
14adalimumab46 52 1211.3IL10, IFNG
15thyroxine46 2510.3AHR, IL5, IL10
16indoleamine469.2IL10, IFNG
17dmso469.2AHR, IL10, IL5
18budesonide46 52 1211.2IL5, IFNG
19polymyxin b469.1IL10, IFNG
20vitamin d469.1AHR, IL5, IL10
21methylcellulose469.1IFNG, AHR, IL5
22citrulline46 2510.1IFNG, IL10
23herbimycin a46 6210.1IFNG, IL5, AHR
24glatiramer acetate46 1210.0IL10, IL5, IFNG
25il-12469.0IL10, IFNG, IL5
26imiquimod46 62 30 1212.0IL10, IL5, IFNG
27gm-csf46 3010.0IL10, IFNG, IL5
28con a469.0IL10, IL5, IFNG
29polyinosinic-polycytidylic acid469.0IFNG, IL5, IL10
30rolipram46 62 3011.0IFNG, IL5, IL10
31il 10469.0IL10, IFNG, IL5
32tarc469.0IL10, IL5, IFNG
33ivig469.0IL10, IL5, IFNG
34allergens469.0IL5, IL10, IFNG
35thalidomide46 52 62 1212.0IL10, IL5, IFNG
36prednisolone46 30 1211.0IL5, IFNG, IL10
37hydrocortisone46 3 62 1212.0IL5, IFNG, IL10
38ionomycin468.9IFNG, IL5, IL10
39okt3468.9IL10, IFNG
40tacrolimus46 52 1210.9IL10, IL5, IFNG
41rantes468.9IL10, IL5, IFNG
42paraffin468.9TRB, IL10, IL5
43histamine46 30 2510.8IL5, IFNG, IL10
44sb 20358046 629.5IL10, IL5, IFNG, AHR
45cyclosporin a46 30 6210.5IL5, IFNG, IL10, TRB
46pge2468.5AHR, IFNG, IL5, IL10
47cycloheximide468.5AHR, IFNG, IL5, IL10
48dexamethasone46 52 30 1211.4IL5, AHR, IFNG, IL10
49vegf468.4AHR, IL10, IFNG, IL5
50genistein46 30 62 3 25 1213.4IFNG, AHR, IL5

GO Terms for genes affiliated with Eosinophilic Fasciitis

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17Gene Ontology
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Cellular components related to Eosinophilic Fasciitis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.6IL10, IL5, IFNG

Biological processes related to Eosinophilic Fasciitis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1regulation of gene expressionGO:0104689.3IL10, AHR
2positive regulation of MHC class II biosynthetic processGO:0453489.1IL10, IFNG
3positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.1IL10, IL5
4negative regulation of growth of symbiont in hostGO:0441309.1IL10, IFNG
5defense response to bacteriumGO:0427429.0IL10, IFNG
6cellular response to lipopolysaccharideGO:0712228.9IFNG, IL10

Molecular functions related to Eosinophilic Fasciitis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1growth factor activityGO:0080839.4IL10, IL5
2cytokine activityGO:0051258.3IL10, IL5, IFNG

Products for genes affiliated with Eosinophilic Fasciitis

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Sources for Eosinophilic Fasciitis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet