EF
MCID: ESN015
MIFTS: 61

Eosinophilic Fasciitis (EF) malady

Rare diseases, Neuronal diseases, Bone diseases categories

Summaries for Eosinophilic Fasciitis

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NIH Rare Diseases:42 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 shulman syndrome, 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 t cells, and related mouse phenotypes are renal/urinary system and reproductive system.

Wikipedia:64 Eosinophilic fasciitis /?i?.?s?n??fi?l?k ?f more...

Description from OMIM:46 226350

Aliases & Classifications for Eosinophilic Fasciitis

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Sources:
42NIH Rare Diseases, 44Novoseek, 48Orphanet, 46OMIM, 61UMLS, 27ICD10 via Orphanet, 62UMLS via Orphanet, 26ICD10
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Eosinophilic Fasciitis, Aliases & Descriptions:

Name: Eosinophilic Fasciitis 42 44 48 46
Shulman Syndrome 42 48
Fasciitis with Eosinophilia Syndrome 61
 
Diffuse Fasciitis with Eosinophilia 48
Eosinophilic Synovitis 61
Ef 42


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
eosinophilic fasciitis:
Age of onset: Adulthood; Age of death: Normal


External Ids:

OMIM46 226350
ICD10 via Orphanet27 M35.4
UMLS via Orphanet62 C0264005
ICD1026 M35.4

Related Diseases for Eosinophilic Fasciitis

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Diseases related to Eosinophilic Fasciitis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 153)
idRelated DiseaseScoreTop Affiliating Genes
1eosinophilia-myalgia syndrome31.5IL5
2eosinophilia30.7IL10, IL5, IFNG
3aplastic anemia30.7IFNG, TRB
4cutaneous t cell lymphoma30.5IL5, TRB, IFNG
5arthritis30.4TRB, IL10, IFNG
6colitis30.3IL10, IFNG
7systemic lupus erythematosus30.3IL10, TRB, IFNG
8graft versus host disease30.1TRB, IL10, IFNG
9myasthenia gravis30.1IL10, IFNG
10rheumatoid arthritis30.0IFNG, TRB, IL10
11multiple sclerosis29.8IFNG, TRB, IL10, IL5
12hepatitis b29.8IFNG, AHR, TRB
13asthma29.8IL5, IL10, IFNG
14psoriasis29.6IL5, IFNG, IL10, TRB
15leukemia29.5AHR, IFNG, TRB
16melanoma29.5IFNG, IL10, TRB, AHR
17fasciitis11.3
18scleroderma10.7
19filariasis10.4IL5
20strongyloidiasis10.4IL5
21thyroiditis10.4
22linear scleroderma10.4
23pleurisy10.4TRB
24aspergillosis10.4IFNG
25localized scleroderma10.4
26lupus erythematosus10.4
27carpal tunnel syndrome10.3
28connective tissue disease10.3
29scleredema10.3
30paraneoplastic syndromes10.3
31neuronitis10.3
32hemolytic anemia10.2
33hepatitis10.2
34peripheral t-cell lymphoma10.2
35thrombocytopenia10.2
36autoimmune hemolytic anemia10.2
37scleredema adultorum10.2
38mixed connective tissue disease10.2
39angioedema10.2
40myopathy10.2
41myositis10.2
42neuropathy10.2
43pericarditis10.2
44purpura10.2
45vasculitis10.2
46polymyositis10.2
47toxic oil syndrome10.2
48mycosis fungoides10.2TRB, IL5
49pulmonary sarcoidosis10.2IFNG, TRB
50factor vii deficiency10.2TRB, IFNG

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 by clinical synopsis from OMIM:

226350

Clinical features from OMIM:

226350

Symptoms:

 48 (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:

32
Skin, Bone, T cells, Bone marrow, Thyroid, 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:

36 (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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Articles related to Eosinophilic Fasciitis:

(show top 50)    (show all 329)
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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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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Pathways related to Eosinophilic Fasciitis according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4IL10, IL5
29.4IL5, IL10
39.2IL5, IFNG
4
Show member pathways
Calcium signaling in the CD4+ TCR pathway37
9.2IFNG, IL5
59.2IL5, IFNG
6
Show member pathways
Immune response IL 12 induced IFN gamma production59
9.1IFNG, TRB
7
Show member pathways
Transcription NF kB signaling pathway59
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response59
9.1IFNG, TRB
8
Show member pathways
IL27-mediated signaling events37
9.0IL10, IFNG
99.0IL10, IFNG
10
Show member pathways
IL23-mediated signaling events37
Immune response IL 10 signaling pathway59
Angiopoietin receptor Tie2-mediated signaling37
Development PDGF signaling via STATs and NF kB59
Development Angiopoietin Tie2 signaling59
9.0IL10, IFNG
119.0IFNG, IL10
129.0IFNG, IL10
13
Show member pathways
9.0IFNG, IL10
148.6IFNG, IL5, IL10
15
Show member pathways
8.6IFNG, IL5, IL10
168.6IL5, IFNG, IL10
17
Show member pathways
8.6IFNG, IL10, IL5
18
Show member pathways
8.6IL5, IL10, IFNG
19
Show member pathways
8.6IL10, IL5, IFNG
20
Show member pathways
Type III interferon signaling37
8.6IL10, IFNG, IL5
21
Show member pathways
BCR signaling pathway37
TCR Signaling Pathway37
8.1IFNG, TRB, IL10, IL5
228.1IL10, TRB, IL5, IFNG

Compounds for genes affiliated with Eosinophilic Fasciitis

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Compounds related to Eosinophilic Fasciitis according to GeneCards/GeneDecks:

(show top 50)    (show all 76)
idCompoundScoreTop Affiliating Genes
1mcp 1449.7IL5, IL10
2praziquantel44 1210.7IL5, IL10
38 methoxypsoralen449.7AHR, IL10
4as 10144 6010.7IL5, IL10
5montelukast44 50 29 1212.6IL10, IL5
6pirfenidone44 6010.5IFNG, IL5
7amphotericin b449.5IFNG, IL5
8betaseron449.4IL10, IFNG
9interferon gamma449.4IFNG, IL10
10alpha-galactosylceramide449.4IFNG, IL10
11tuberculin449.4IL10, IFNG
12l-tryptophan50 29 44 25 1213.3IFNG, IL5
13natalizumab44 1210.3IFNG, IL10
14adalimumab44 50 1211.3IL10, IFNG
15thyroxine44 2510.3AHR, IL5, IL10
16indoleamine449.2IL10, IFNG
17dmso449.2AHR, IL10, IL5
18budesonide44 50 1211.2IL5, IFNG
19polymyxin b449.1IL10, IFNG
20vitamin d449.1AHR, IL5, IL10
21methylcellulose449.1IFNG, AHR, IL5
22citrulline44 2510.1IFNG, IL10
23herbimycin a44 6010.1IFNG, IL5, AHR
24glatiramer acetate44 1210.0IL10, IL5, IFNG
25il-12449.0IL10, IFNG, IL5
26imiquimod44 60 29 1212.0IL10, IL5, IFNG
27gm-csf44 2910.0IL10, IFNG, IL5
28con a449.0IL10, IL5, IFNG
29polyinosinic-polycytidylic acid449.0IFNG, IL5, IL10
30rolipram44 60 2911.0IFNG, IL5, IL10
31il 10449.0IL10, IFNG, IL5
32tarc449.0IL10, IL5, IFNG
33ivig449.0IL10, IL5, IFNG
34allergens449.0IL5, IL10, IFNG
35thalidomide44 50 60 1212.0IL10, IL5, IFNG
36prednisolone44 29 1211.0IL5, IFNG, IL10
37hydrocortisone44 3 60 1212.0IL5, IFNG, IL10
38ionomycin448.9IFNG, IL5, IL10
39okt3448.9IL10, IFNG
40tacrolimus44 50 1210.9IL10, IL5, IFNG
41rantes448.9IL10, IL5, IFNG
42paraffin448.9TRB, IL10, IL5
43histamine44 29 2510.8IL5, IFNG, IL10
44sb 20358044 609.5IL10, IL5, IFNG, AHR
45cyclosporin a44 29 6010.5IL5, IFNG, IL10, TRB
46pge2448.5AHR, IFNG, IL5, IL10
47cycloheximide448.5AHR, IFNG, IL5, IL10
48dexamethasone44 50 29 1211.4IL5, AHR, IFNG, IL10
49vegf448.4AHR, IL10, IFNG, IL5
50genistein44 29 60 3 25 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/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:0441309.1IFNG, IL10
5defense response to bacteriumGO:0427429.0IFNG, IL10
6cellular response to lipopolysaccharideGO:0712228.9IL10, IFNG

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
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet