EF
MCID: ESN015
MIFTS: 54

Eosinophilic Fasciitis (EF) malady

Neuronal, Bone categories

Summaries for Eosinophilic Fasciitis

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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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 arthritis, and has symptoms including cellulitis/panniculitis/pseudocellulitis/inflammation of subcutaneous tissue, macules and cutaneous edema. An important gene associated with Eosinophilic Fasciitis is IL5 (interleukin 5 (colony-stimulating factor, eosinophil)), and among its related pathways are Cytokines and Inflammatory Response and IL4-mediated signaling events. The compounds rantes and mcp 1 have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, lymph node and colon, and related mouse phenotypes are reproductive system and tumorigenesis.

Wikipedia:64 Eosinophilic fasciitis /ˌiː.ɵsɪnɵˈfiːlɪk ˌfæʃiˈaɪtɪs/, also known as \"Shulman\'s... more...

Description from OMIM:47 226350

Aliases & Classifications for Eosinophilic Fasciitis

Sources:
43NIH Rare Diseases, 45Novoseek, 49Orphanet, 47OMIM, 61UMLS, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:

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


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 61
diffuse fasciitis with eosinophilia 49
eosinophilic synovitis 61
ef 43


External Ids:

OMIM47 226350
ICD10 via Orphanet26 M35.4
ICD1025 M35.4

Related Diseases for Eosinophilic Fasciitis

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Eosinophilic Fasciitis:



Diseases related to eosinophilic fasciitis

Clinical Features for Eosinophilic Fasciitis

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

226350

Clinical synopsis from OMIM:

226350

Symptoms:

49 (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

Drugs & Therapeutics for Eosinophilic Fasciitis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Anatomical Context for Eosinophilic Fasciitis

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Eosinophilic Fasciitis:

33
Bone marrow, Lymph node, Colon, Kidney, Thyroid, Breast, Skin, Myeloid, T cells, B cells

Animal Models for Eosinophilic Fasciitis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Eosinophilic Fasciitis

Sources:
51PubMed
See all sources

Articles related to Eosinophilic Fasciitis:

(show top 50)    (show all 328)
idTitleAuthorsYear
1
Pansclerotic Morphea with Features of Eosinophilic Fasciitis: Distinct Entities or Part of a Continuum? (24383741)
2014
2
Eosinophilic Fasciitis Occurring under Treatment with Natalizumab for Multiple Sclerosis. (24377479)
2014
3
Severe aplastic anemia associated with eosinophilic fasciitis: report of 4 cases and review of the literature. (23429351)
2013
4
Eosinophilic fasciitis (Shulman disease). (23040360)
2012
5
Eosinophilic fasciitis (Shulman disease): new insights into the therapeutic management from a series of 34 patients. (22120602)
2012
6
A comment on "from diagnosis to remission: place of MRI in eosinophilic fasciitis". (21221685)
2011
7
Unusual skin involvement in eosinophilic fasciitis. (21070330)
2011
8
Two cases of eosinophilic fasciitis. (21738370)
2011
9
AHR activation by tryptophan--pathogenic hallmark of Th17-mediated inflammation in eosinophilic fasciitis, eosinophilia-myalgia-syndrome and toxic oil syndrome? (19941898)
2010
10
An amyotrophic lateral sclerosis mimicker: eosinophilic fasciitis. (19099133)
2008
11
Infliximab effective in steroid-dependent juvenile eosinophilic fasciitis. (18417525)
2008
12
'Venous furrowing': a clue to the diagnosis of eosinophilic fasciitis. A case of eosinophilic fasciitis ultimately treated with oral PUVA therapy. (17587851)
2007
13
Eosinophilic fasciitis: report of two cases and a systematic review of the literature dealing with clinical variables that predict outcome. (17345001)
2007
14
Extracorporeal photochemotherapy in the treatment of eosinophilic fasciitis. (12602960)
2003
15
Circulating soluble CD40 ligand in patients with eosinophilic fasciitis. (12525399)
2003
16
Eosinophilic fasciitis presenting as pitting edema of the extremities. (11566463)
2001
17
Eosinophilic fasciitis following exposure to trichloroethylene: successful treatment with cyclosporin. (10792252)
2000
18
Surgical management of eosinophilic fasciitis of the upper extremity. (9222928)
1997
19
Eosinophilia-myalgia syndrome, eosinophilic fasciitis, and related fibrosing disorders. (9375286)
1997
20
Localized eosinophilic fasciitis. (17589028)
1995
21
Eosinophilic fasciitis associated with a monoclonal immunoglobulin. (7842540)
1994
22
Eosinophilic fasciitis in association with chronic vasculitic-like leg ulcerations. (8467618)
1993
23
L-tryptophan-associated eosinophilic fasciitis prior to the 1989 eosinophilia-myalgia syndrome outbreak. (1536667)
1992
24
Magnetic resonance imaging in eosinophilic fasciitis. (2066964)
1991
25
Downslope claudication in eosinophilic fasciitis: a fourth type of claudication--case presentations. (2006764)
1991
26
Eosinophilic fasciitis. Increased collagen production and type I procollagen messenger RNA levels in fibroblasts cultured from involved skin. (2334180)
1990
27
Capillary microscopy during eosinophilic fasciitis in 15 patients: distinction from systemic scleroderma. (2346160)
1990
28
Cimetidine in eosinophilic fasciitis. (2382929)
1990
29
Colitis and pericarditis in a patient with eosinophilic fasciitis. A contribution to the multisystem nature of eosinophilic fasciitis. (2502625)
1989
30
Eosinophilic fasciitis. (2671538)
1989
31
Eosinophilic fasciitis and aplastic anaemia. (3250793)
1988
32
Eosinophilic fasciitis and severe aplastic anemia: favorable response to either antithymocyte globulin or cyclosporine A in blood and skin disorders. (3381290)
1988
33
Eosinophilic fasciitis presenting as inflammatory polyarthritis. (3748691)
1986
34
Localized eosinophilic fasciitis in a patient with rheumatoid arthritis. (4087274)
1985
35
Eosinophilic fasciitis, reactive hepatitis, and splenomegaly. (3970632)
1985
36
Eosinophilic fasciitis: extracutaneous manifestations and associations. (6386352)
1984
37
Diffuse (eosinophilic) fasciitis. A series of six cases. (6488715)
1984
38
Cimetidine and eosinophilic fasciitis. (6848032)
1983
39
Eosinophilic fasciitis and pernicious anemia with thyroid antibodies. (7175847)
1982
40
Eosinophilic fasciitis with erosive arthritis. (7172485)
1982
41
Circulating immune complexes in eosinophilic fasciitis. (6982714)
1982
42
Eosinophilic fasciitis and reflex sympathetic dystrophy syndrome. (7288776)
1981
43
The eosinophilic fasciitis syndrome after phenytoin (dilantin) therapy. (7441663)
1980
44
Eosinophilic fasciitis: report of a case with features of connective tissue diseases. (7420336)
1980
45
Eosinophilic fasciitis. (7370561)
1980
46
Eosinophilic fasciitis. (7436215)
1980
47
Eosinophilic fasciitis. Review and report of six cases. (534317)
1979
48
Eosinophilic fasciitis. (637446)
1978
49
Eosinophilic fasciitis. (897495)
1977
50
? Scleredema of Buschke ? Eosinophilic fasciitis. (1084154)
1976

Genetic Variations for Eosinophilic Fasciitis

Expression for genes affiliated with Eosinophilic Fasciitis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 12EMD Millipore, 30KEGG, 53R&D Systems, 52QIAGEN
See all sources

Pathways related to Eosinophilic Fasciitis according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0TRB
29.4IL10, IL5
39.4IL5, IL10
4
Hide members
9.2IFNG, IL5
59.2IL5, IFNG
69.2IL5, IFNG
7
Hide members
9.1IFNG, TRB
89.0IL10, IFNG
9
Hide members
9.0IL10, IFNG
10
Hide members
9.0IFNG, IL10
11
Hide members
8.6IL5, IL10, IFNG
128.6IL5, IL10, IFNG
138.6IFNG, IL10, IL5
148.6IL5, IL10, IFNG
15
Hide members
8.6IL5, IL10, IFNG
16
Hide members
8.6IFNG, IL10, IL5
17
Hide members
8.1IL5, IL10, TRB, IFNG

Compounds for genes affiliated with Eosinophilic Fasciitis

Sources:
45Novoseek, 11DrugBank, 60Tocris Bioscience, 50PharmGKB, 29IUPHAR, 24HMDB, 2BitterDB
See all sources

Compounds related to Eosinophilic Fasciitis according to GeneCards/GeneDecks:

(show top 50)    (show all 61)
idCompoundScoreTop Affiliating Genes
1rantes4510.0IFNG
2mcp 1459.7IL10, IL5
3praziquantel45 1110.7IL5, IL10
4as 10160 4510.7IL5, IL10
58 methoxypsoralen459.7IL10, AHR
6montelukast45 50 29 1112.7IL5, IL10
7salbutamol45 50 29 11 2413.5IL5, IL10
8gm-csf45 2910.5IFNG, IL10
9l-tryptophan45 29 11 2412.5IFNG, IL5
10betaseron459.4IL10, IFNG
11interferon gamma459.4IFNG, IL10
12alpha-galactosylceramide459.4IFNG, IL10
13budesonide45 50 1111.4IFNG, IL5
14tuberculin459.4IL10, IFNG
15natalizumab45 1110.4IL10, IFNG
16adalimumab45 50 1111.3IL10, IFNG
17fluticasone propionate45 50 60 1112.3IFNG, IL5
18polymyxin b459.3IL10, IFNG
19thyroxine45 2410.3IL5, IL10, AHR
20citrulline45 2410.3IL10, IFNG
21okt3459.2IL10, IFNG
22dmso459.2IL10, IL5, AHR
23poly(i-c)459.2IFNG, IL5
24vitamin d459.2IL5, IL10, AHR
25methylcellulose459.1IL5, AHR, IFNG
26herbimycin a45 6010.1IFNG, AHR, IL5
27glatiramer acetate45 1110.0IFNG, IL5, IL10
28il-12459.0IL10, IFNG, IL5
29imiquimod45 29 60 1112.0IFNG, IL10, IL5
30con a459.0IFNG, IL10, IL5
31polyinosinic-polycytidylic acid459.0IL10, IL5, IFNG
32il 10459.0IL10, IFNG, IL5
33tarc459.0IL10, IFNG, IL5
34ivig459.0IL5, IL10, IFNG
35allergens459.0IL5, IL10, IFNG
36thalidomide45 50 60 1112.0IL5, IFNG, IL10
37prednisolone45 29 1111.0IFNG, IL10, IL5
38ionomycin459.0IL10, IL5, IFNG
39tacrolimus45 50 1110.9IL5, IL10, IFNG
40paraffin458.9TRB, IL10, IL5
412,5-oligoadenylate458.9IL10, IFNG
42histamine45 29 2410.8IFNG, IL10, IL5
43etanercept45 50 1110.7IFNG, IL10
44genistein45 29 60 2 11 2413.7IL5, AHR, IFNG
45sb 20358045 609.5AHR, IL10, IFNG, IL5
46cyclosporin a45 29 6010.5IFNG, TRB, IL5, IL10
47pge2458.5IL10, IL5, AHR, IFNG
48cycloheximide458.5IL5, AHR, IL10, IFNG
49dexamethasone45 50 29 1111.4IL10, IL5, IFNG, AHR
50vegf458.4AHR, IFNG, IL5, IL10

GO Terms for genes affiliated with Eosinophilic Fasciitis

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.4IL5, IL10
2regulation of gene expressionGO:0104689.2AHR, IL10
3positive regulation of MHC class II biosynthetic processGO:0453489.1IL10, IFNG
4negative regulation of growth of symbiont in hostGO:0441309.0IL10, IFNG
5cellular response to lipopolysaccharideGO:0712228.7IL10, IFNG

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

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:0051258.6IL5, IL10, IFNG

Products for genes affiliated with Eosinophilic Fasciitis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Eosinophilic Fasciitis

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet