MCID: ESN015
MIFTS: 52

Eosinophilic Fasciitis malady

Rare diseases, Neuronal diseases, Bone diseases categories

Summaries for Eosinophilic Fasciitis

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NIH Rare Diseases:41 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 based summary: Eosinophilic Fasciitis, also known as diffuse fasciitis with eosinophilia, is related to eosinophilia-myalgia syndrome and eosinophilia, and has symptoms including hypermelanotic macule, acrocyanosis and abnormality of eosinophils. 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:63 Eosinophilic fasciitis /?i?.?s?n??fi?l?k ?f more...

Aliases & Classifications for Eosinophilic Fasciitis

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Sources:
41NIH Rare Diseases, 43Novoseek, 47Orphanet, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Eosinophilic Fasciitis, Aliases & Descriptions:

Name: Eosinophilic Fasciitis 41 43 47 60
Diffuse Fasciitis with Eosinophilia 41 47
Shulman Syndrome 41 47
 
Eosinophilic Synovitis 60
Ef 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
eosinophilic fasciitis:
Age of onset: Adult; Age of death: normal life expectancy


External Ids:

Orphanet47 3165
ICD10 via Orphanet26 M35.4
UMLS via Orphanet61 C0264005
ICD1025 M35.4

Related Diseases for Eosinophilic Fasciitis

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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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Symptoms:

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

HPO human phenotypes related to Eosinophilic Fasciitis:

(show all 14)
id Description Frequency HPO Source Accession
1 hypermelanotic macule hallmark (90%) HP:0001034
2 acrocyanosis hallmark (90%) HP:0001063
3 abnormality of eosinophils hallmark (90%) HP:0001879
4 myalgia hallmark (90%) HP:0003326
5 cellulitis hallmark (90%) HP:0100658
6 muscular edema hallmark (90%) HP:0100748
7 arthritis typical (50%) HP:0001369
8 arthralgia typical (50%) HP:0002829
9 weight loss occasional (7.5%) HP:0001824
10 paresthesia occasional (7.5%) HP:0003401
11 fasciitis occasional (7.5%) HP:0100537
12 myositis occasional (7.5%) HP:0100614
13 autosomal recessive inheritance HP:0000007
14 abnormality of the musculature HP:0003011

Drugs & Therapeutics for Eosinophilic Fasciitis

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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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MalaCards organs/tissues related to Eosinophilic Fasciitis:

31
Skin, Bone, Thyroid, T cells, Bone marrow, Neutrophil, Lymph node, Colon, Kidney, Breast, Myeloid

Animal Models for Eosinophilic Fasciitis or affiliated genes

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MGI Mouse Phenotypes related to Eosinophilic Fasciitis:

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

Publications for Eosinophilic Fasciitis

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Articles related to Eosinophilic Fasciitis:

(show top 50)    (show all 338)
idTitleAuthorsYear
1
Eosinophilic fasciitis]. (25897110)
2015
2
Association of eosinophilic fasciitis with morphea. (25434081)
2014
3
Usefulness of FDG PET/CT in the Diagnosis of Eosinophilic Fasciitis. (24152641)
2013
4
Orthopedic considerations with eosinophilic fasciitis: a case report and literature review. (23227395)
2012
5
Unusual skin involvement in eosinophilic fasciitis. (21070330)
2011
6
AHR activation by tryptophan--pathogenic hallmark of Th17-mediated inflammation in eosinophilic fasciitis, eosinophilia-myalgia-syndrome and toxic oil syndrome? (19941898)
2010
7
Eosinophilic fasciitis in a duathlete. (19451771)
2009
8
Physical burden of symptoms in patients with localized scleroderma and eosinophilic fasciitis. (18936410)
2008
9
Eosinophilic fasciitis successfully treated with cyclosporine. (15864687)
2005
10
Cytokine abnormalities in a patient with eosinophilic fasciitis. (12722970)
2003
11
Elevated serum levels of manganese superoxide dismutase in patients with eosinophilic fasciitis. (14677046)
2003
12
Extracorporeal photochemotherapy in the treatment of eosinophilic fasciitis. (12602960)
2003
13
Eosinophilic fasciitis with multiple myeloma: a new haematological association. (12429547)
2002
14
Analysis of leukemia inhibitory factor, type 1 and type 2 cytokine production in patients with eosinophilic fasciitis. (11196547)
2001
15
Eosinophilic fasciitis presenting as pitting edema of the extremities. (11566463)
2001
16
Scleroderma-like syndrome in a child: eosinophilic fasciitis or scleredema adultorum? (10923227)
2000
17
Eosinophilic fasciitis--progression to linear scleroderma: a case report. (10770102)
1999
18
Lymph-node-based malignant lymphoma and reactive lymphadenopathy in eosinophilic fasciitis. (10555099)
1999
19
Possible association between eosinophilic fasciitis and subcutaneous heparin use. (9489839)
1998
20
Eosinophilic fasciitis with myelodysplasia responsive to treatment with cyclosporin. (9068764)
1997
21
Serum and synovial fluid levels of interleukin-5 in a patient with eosinophilic fasciitis. (9014593)
1996
22
Systemic lupus erythematosus and eosinophilic fasciitis: an unusual association. (8549105)
1995
23
Association of eosinophilic fasciitis, multiple morphea and antiphospholipid antibody. (7949491)
1994
24
Familial eosinophilic fasciitis and breast cancer. (8162468)
1994
25
Eosinophilic fasciitis in children frequently progresses to scleroderma-like cutaneous fibrosis. (8441144)
1993
26
Comparison of the pathology of fascia in eosinophilic myalgia syndrome patients and idiopathic eosinophilic fasciitis. (8435512)
1993
27
Childhood eosinophilic fasciitis presenting as inflammatory polyarthritis and associated with selective IgA deficiency. (1929589)
1991
28
Eosinophilic fasciitis associated with use of L-tryptophan: a case-control study and comparison of clinical and histopathologic features. (1921498)
1991
29
Eosinophilic fasciitis. Increased collagen production and type I procollagen messenger RNA levels in fibroblasts cultured from involved skin. (2334180)
1990
30
Capillary microscopy during eosinophilic fasciitis in 15 patients: distinction from systemic scleroderma. (2346160)
1990
31
Conjunctival chemosis in eosinophilic fasciitis. (2606225)
1989
32
Eosinophilic fasciitis in children. (2690343)
1989
33
Overlap syndromes, mixed connective tissue disease, and eosinophilic fasciitis. (2702056)
1989
34
Rheumatoid arthritis with eosinophilic fasciitis and pure red cell aplasia. (2509696)
1989
35
Eosinophilic fasciitis: clinical spectrum and therapeutic response in 52 cases. (3232080)
1988
36
Frequency, levels, and significance of blood eosinophilia in systemic sclerosis, localized scleroderma, and eosinophilic fasciitis. (3668010)
1987
37
Eosinophilic fasciitis presenting as inflammatory polyarthritis. (3748691)
1986
38
Eosinophilic fasciitis in a two-year-old child. (4026891)
1985
39
Eosinophilic fasciitis in an African--possible benefit of chloroquine treatment. (6494091)
1984
40
Eosinophilic fasciitis--a case with hypogammaglobulinaemia. (6744652)
1984
41
Cimetidine and eosinophilic fasciitis. (6859693)
1983
42
Eosinophilic fasciitis: new associations and current perspectives. (7218260)
1981
43
Polymyositis in eosinophilic fasciitis. Review and case report. (7389757)
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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Search GEO for disease gene expression data for Eosinophilic Fasciitis.

Pathways for genes affiliated with Eosinophilic Fasciitis

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Pathways related to Eosinophilic Fasciitis according to GeneCards Suite gene sharing:

(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 pathway36
9.2IFNG, IL5
59.2IL5, IFNG
6
Show member pathways
Immune response IL 12 induced IFN gamma production58
9.1TRB, IFNG
7
Show member pathways
Transcription NF kB signaling pathway58
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response58
9.1TRB, IFNG
8
Show member pathways
IL27-mediated signaling events36
9.0IFNG, IL10
99.0IL10, IFNG
10
Show member pathways
IL23-mediated signaling events36
Immune response IL 10 signaling pathway58
Angiopoietin receptor Tie2-mediated signaling36
Development PDGF signaling via STATs and NF kB58
Development Angiopoietin Tie2 signaling58
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 signaling36
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 pathway36
TCR Signaling Pathway36
8.1IFNG, IL5, IL10, TRB
228.1TRB, IL10, IL5, IFNG

Compounds for genes affiliated with Eosinophilic Fasciitis

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Compounds related to Eosinophilic Fasciitis according to GeneCards Suite gene sharing:

(show top 50)    (show all 76)
idCompoundScoreTop Affiliating Genes
1mcp 1439.7IL5, IL10
2praziquantel43 1210.7IL5, IL10
38 methoxypsoralen439.7AHR, IL10
4as 10143 5910.7IL5, IL10
5montelukast43 49 28 1212.6IL10, IL5
6pirfenidone43 5910.5IFNG, IL5
7amphotericin b439.5IFNG, IL5
8betaseron439.4IL10, IFNG
9interferon gamma439.4IFNG, IL10
10alpha-galactosylceramide439.4IFNG, IL10
11tuberculin439.4IL10, IFNG
12l-tryptophan49 28 43 24 1213.3IFNG, IL5
13natalizumab43 1210.3IFNG, IL10
14adalimumab43 49 1211.3IL10, IFNG
15thyroxine43 2410.3AHR, IL5, IL10
16indoleamine439.2IL10, IFNG
17dmso439.2AHR, IL10, IL5
18budesonide43 49 1211.2IL5, IFNG
19polymyxin b439.1IL10, IFNG
20vitamin d439.1AHR, IL5, IL10
21methylcellulose439.1IFNG, AHR, IL5
22citrulline43 2410.1IFNG, IL10
23herbimycin a43 5910.1IFNG, IL5, AHR
24glatiramer acetate43 1210.0IL10, IL5, IFNG
25il-12439.0IL10, IFNG, IL5
26imiquimod43 59 28 1212.0IL10, IL5, IFNG
27gm-csf43 2810.0IL10, IFNG, IL5
28con a439.0IL10, IL5, IFNG
29polyinosinic-polycytidylic acid439.0IFNG, IL5, IL10
30rolipram43 59 2811.0IFNG, IL5, IL10
31il 10439.0IL10, IFNG, IL5
32tarc439.0IL10, IL5, IFNG
33ivig439.0IL10, IL5, IFNG
34allergens439.0IL5, IL10, IFNG
35thalidomide43 49 59 1212.0IL10, IL5, IFNG
36prednisolone43 28 1211.0IL5, IFNG, IL10
37hydrocortisone43 2 59 1212.0IL5, IFNG, IL10
38ionomycin438.9IFNG, IL5, IL10
39okt3438.9IL10, IFNG
40tacrolimus43 49 1210.9IL10, IL5, IFNG
41rantes438.9IL10, IL5, IFNG
42paraffin438.9TRB, IL10, IL5
43histamine43 28 2410.8IL5, IFNG, IL10
44sb 20358043 599.5IL10, IL5, IFNG, AHR
45cyclosporin a43 28 5910.5IL5, IFNG, IL10, TRB
46pge2438.5AHR, IFNG, IL5, IL10
47cycloheximide438.5AHR, IFNG, IL5, IL10
48dexamethasone43 49 28 1211.4IL5, AHR, IFNG, IL10
49vegf438.4AHR, IL10, IFNG, IL5
50genistein43 28 59 2 24 1213.4IFNG, AHR, IL5

GO Terms for genes affiliated with Eosinophilic Fasciitis

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Cellular components related to Eosinophilic Fasciitis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056158.6IL10, IL5, IFNG

Biological processes related to Eosinophilic Fasciitis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1regulation of gene expressionGO:00104689.3IL10, AHR
2positive regulation of MHC class II biosynthetic processGO:00453489.1IL10, IFNG
3positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.1IL10, IL5
4negative regulation of growth of symbiont in hostGO:00441309.1IL10, IFNG
5defense response to bacteriumGO:00427429.0IL10, IFNG
6cellular response to lipopolysaccharideGO:00712228.9IFNG, IL10

Molecular functions related to Eosinophilic Fasciitis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1growth factor activityGO:00080839.4IL10, IL5
2cytokine activityGO:00051258.3IL10, IL5, IFNG

Products for genes affiliated with Eosinophilic Fasciitis

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Sources for Eosinophilic Fasciitis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet