EF
MCID: ESN015
MIFTS: 61

Eosinophilic Fasciitis (EF) malady

Rare diseases, Neuronal diseases, Bone diseases categories
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Summaries for Eosinophilic Fasciitis

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Sources:
43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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Fully expand this MalaCard
NIH Rare Diseases:43 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. 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:65 Eosinophilic fasciitis /?i?.?s?n??fi?l?k ?f more...

Description from OMIM:47 226350

Aliases & Classifications for Eosinophilic Fasciitis

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43NIH Rare Diseases, 45Novoseek, 49Orphanet, 47OMIM, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet, 59SNOMED-CT via Orphanet, 25ICD10
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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):

49
eosinophilic fasciitis:
Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

eosinophilic fasciitis 43 45 49 47
shulman syndrome 43 49
fasciitis with eosinophilia syndrome 62
diffuse fasciitis with eosinophilia 49
eosinophilic synovitis 62
ef 43


External Ids:

OMIM47 226350
ICD10 via Orphanet26 M35.4
UMLS via Orphanet63 C0264005
SNOMED-CT via Orphanet59 24129002
ICD1025 M35.4

Related Diseases for Eosinophilic Fasciitis

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17GeneCards, 18GeneDecks
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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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

226350

Clinical features from OMIM:

226350

Symptoms:

49 (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:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Eosinophilic Fasciitis

Search NIH Clinical Center for Eosinophilic Fasciitis

Genetic Tests for Eosinophilic Fasciitis

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Anatomical Context for Eosinophilic Fasciitis

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Sources:
33MalaCards
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MalaCards organs/tissues related to Eosinophilic Fasciitis:

33
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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37MGI
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MGI Mouse Phenotypes related to Eosinophilic Fasciitis:

37 (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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52PubMed
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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, 15Gene 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:
50PathCards, 38NCBI BioSystems Database, 60Thomson Reuters, 54R&D Systems, 30KEGG, 53QIAGEN
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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 pathway38
9.2IFNG, IL5
59.2IL5, IFNG
6
Show member pathways
Immune response IL 12 induced IFN gamma production60
9.1TRB, IFNG
7
Show member pathways
Transcription NF kB signaling pathway60
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response60
9.1TRB, IFNG
8
Show member pathways
IL27-mediated signaling events38
9.0IFNG, IL10
99.0IL10, IFNG
10
Show member pathways
IL23-mediated signaling events38
Immune response IL 10 signaling pathway60
Angiopoietin receptor Tie2-mediated signaling38
Development PDGF signaling via STATs and NF kB60
Development Angiopoietin Tie2 signaling60
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 signaling38
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 pathway38
TCR Signaling Pathway38
8.1IFNG, IL5, IL10, TRB
228.1TRB, IL10, IL5, IFNG

Compounds for genes affiliated with Eosinophilic Fasciitis

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Sources:
45Novoseek, 11DrugBank, 61Tocris Bioscience, 51PharmGKB, 29IUPHAR, 24HMDB, 3BitterDB
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Compounds related to Eosinophilic Fasciitis according to GeneCards/GeneDecks:

(show top 50)    (show all 76)
idCompoundScoreTop Affiliating Genes
1mcp 1459.7IL5, IL10
2praziquantel45 1110.7IL5, IL10
38 methoxypsoralen459.7AHR, IL10
4as 10145 6110.7IL5, IL10
5montelukast45 51 29 1112.6IL10, IL5
6pirfenidone45 6110.5IFNG, IL5
7amphotericin b459.5IFNG, IL5
8betaseron459.4IL10, IFNG
9interferon gamma459.4IFNG, IL10
10alpha-galactosylceramide459.4IFNG, IL10
11tuberculin459.4IL10, IFNG
12l-tryptophan51 29 45 24 1113.3IFNG, IL5
13natalizumab45 1110.3IFNG, IL10
14adalimumab45 51 1111.3IL10, IFNG
15thyroxine45 2410.3AHR, IL5, IL10
16indoleamine459.2IL10, IFNG
17dmso459.2AHR, IL10, IL5
18budesonide45 51 1111.2IL5, IFNG
19polymyxin b459.1IL10, IFNG
20vitamin d459.1AHR, IL5, IL10
21methylcellulose459.1IFNG, AHR, IL5
22citrulline45 2410.1IFNG, IL10
23herbimycin a45 6110.1IFNG, IL5, AHR
24glatiramer acetate45 1110.0IL10, IL5, IFNG
25il-12459.0IL10, IFNG, IL5
26imiquimod45 61 29 1112.0IL10, IL5, IFNG
27gm-csf45 2910.0IL10, IFNG, IL5
28con a459.0IL10, IL5, IFNG
29polyinosinic-polycytidylic acid459.0IFNG, IL5, IL10
30rolipram45 61 2911.0IFNG, IL5, IL10
31il 10459.0IL10, IFNG, IL5
32tarc459.0IL10, IL5, IFNG
33ivig459.0IL10, IL5, IFNG
34allergens459.0IL5, IL10, IFNG
35thalidomide45 51 61 1112.0IL10, IL5, IFNG
36prednisolone45 29 1111.0IL5, IFNG, IL10
37hydrocortisone45 3 61 1112.0IL5, IFNG, IL10
38ionomycin458.9IFNG, IL5, IL10
39okt3458.9IL10, IFNG
40tacrolimus45 51 1110.9IL10, IL5, IFNG
41rantes458.9IL10, IL5, IFNG
42paraffin458.9TRB, IL10, IL5
43histamine45 29 2410.8IL5, IFNG, IL10
44sb 20358045 619.5IL10, IL5, IFNG, AHR
45cyclosporin a45 29 6110.5IL5, IFNG, IL10, TRB
46pge2458.5AHR, IFNG, IL5, IL10
47cycloheximide458.5AHR, IFNG, IL5, IL10
48dexamethasone45 51 29 1111.4IL5, AHR, IFNG, IL10
49vegf458.4AHR, IL10, IFNG, IL5
50genistein45 29 61 3 24 1113.4IFNG, AHR, IL5

GO Terms for genes affiliated with Eosinophilic Fasciitis

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16Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet