EF
MCID: ESN015
MIFTS: 47

Eosinophilic Fasciitis (EF) malady

Neuronal diseases, Bone diseases categories

Summaries for Eosinophilic Fasciitis

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Sources:
42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: Eosinophilic Fasciitis, also known as shulman syndrome, is related to eosinophilia and eosinophilia-myalgia syndrome, and has symptoms including articular/joint pain/arthralgia, arthritis/synovitis/synovial proliferation and paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness. 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 skin and bone, and related mouse phenotypes are reproductive system and tumorigenesis.

Wikipedia:63 Eosinophilic fasciitis /ˌiː.ɵsɪnɵˈfiːlɪk ˌfæʃiˈaɪtɪs/, also known as \"Shulman\'s... more...

Description from OMIM:46 226350

Aliases & Classifications for Eosinophilic Fasciitis

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42NIH Rare Diseases, 44Novoseek, 48Orphanet, 46OMIM, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

eosinophilic fasciitis 42 44 48 46
shulman syndrome 42 48
fasciitis with eosinophilia syndrome 60
diffuse fasciitis with eosinophilia 48
eosinophilic synovitis 60
ef 42


External Ids:

OMIM46 226350
ICD10 via Orphanet26 M35.4
SNOMED-CT via Orphanet57 24129002
ICD1025 M35.4

Related Diseases for Eosinophilic Fasciitis

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Eosinophilic Fasciitis:



Diseases related to eosinophilic fasciitis

Clinical Features for Eosinophilic Fasciitis

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46OMIM, 48Orphanet
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Clinical features from OMIM:

226350

Clinical synopsis from OMIM:

226350

Symptoms:

48 (show all 18)
  • 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
  • muscular sclerosis
  • asthenia/fatigue/weakness
  • 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
  • cellulitis/panniculitis/pseudocellulitis/inflammation of subcutaneous tissue

Drugs & Therapeutics for Eosinophilic Fasciitis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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32MalaCards
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MalaCards organs/tissues related to Eosinophilic Fasciitis:

32
Skin, Bone

Animal Models for Eosinophilic Fasciitis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Eosinophilic Fasciitis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.1AHR, IL10, IL5, IFNG
2MP:00020067.7IL10, IFNG, AHR, IL5, TRB
3MP:00053707.7IL5, IL10, AHR, TRB, IFNG
4MP:00107717.7IL10, AHR, IFNG, TRB
5MP:00053887.7IFNG, IL5, IL10, AHR, TRB
6MP:00053817.6IL5, IFNG, TRB, AHR, IL10
7MP:00053977.6IL10, IL5, IFNG, TRB, AHR
8MP:00053877.5TRB, IL10, IL5, IFNG, AHR
9MP:00053787.4IFNG, TRB, IL5, AHR, IL10

Publications for Eosinophilic Fasciitis

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Genetic Variations for Eosinophilic Fasciitis

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Expression for genes affiliated with Eosinophilic Fasciitis

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Sources:
1BioGPS, 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:
37NCBI BioSystems Database, 12EMD Millipore, 29KEGG, 52R&D Systems, 51QIAGEN
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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
39.4IL10, IL5
4
Hide members
9.2IL5, IFNG
59.2IFNG, IL5
69.2IL5, IFNG
7
Hide members
9.1IFNG, TRB
89.0IFNG, IL10
9
Hide members
9.0IL10, IFNG
10
Hide members
9.0IFNG, IL10
11
Hide members
8.6IL5, IFNG, IL10
12
Hide members
8.6IFNG, IL5, IL10
138.6IL5, IFNG, IL10
148.6IL10, IFNG, IL5
15
Hide members
8.6IFNG, IL10, IL5
168.6IL10, IFNG, IL5
17
Hide members
8.1TRB, IL10, IL5, IFNG

Compounds for genes affiliated with Eosinophilic Fasciitis

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Sources:
44Novoseek, 11DrugBank, 59Tocris Bioscience, 49PharmGKB, 28IUPHAR, 24HMDB, 2BitterDB
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Compounds related to Eosinophilic Fasciitis according to GeneCards/GeneDecks:

(show top 50)    (show all 61)
idCompoundScoreTop Affiliating Genes
1rantes4410.0IFNG
2mcp 1449.7IL10, IL5
3praziquantel44 1110.7IL5, IL10
4as 10159 4410.7IL5, IL10
58 methoxypsoralen449.7IL10, AHR
6montelukast44 49 28 1112.7IL5, IL10
7salbutamol44 49 28 11 2413.5IL5, IL10
8gm-csf44 2810.5IFNG, IL10
9l-tryptophan44 28 11 2412.5IFNG, IL5
10betaseron449.4IL10, IFNG
11interferon gamma449.4IFNG, IL10
12alpha-galactosylceramide449.4IFNG, IL10
13budesonide44 49 1111.4IFNG, IL5
14tuberculin449.4IL10, IFNG
15natalizumab44 1110.4IL10, IFNG
16adalimumab44 49 1111.3IL10, IFNG
17fluticasone propionate44 49 59 1112.3IFNG, IL5
18polymyxin b449.3IL10, IFNG
19thyroxine44 2410.3IL5, IL10, AHR
20citrulline44 2410.3IL10, IFNG
21okt3449.2IL10, IFNG
22dmso449.2IL10, IL5, AHR
23poly(i-c)449.2IFNG, IL5
24vitamin d449.2IL5, IL10, AHR
25methylcellulose449.1IL5, AHR, IFNG
26herbimycin a44 5910.1IFNG, AHR, IL5
27glatiramer acetate44 1110.0IFNG, IL5, IL10
28il-12449.0IL10, IFNG, IL5
29imiquimod44 28 59 1112.0IFNG, IL10, IL5
30con a449.0IFNG, IL10, IL5
31polyinosinic-polycytidylic acid449.0IL10, IL5, IFNG
32il 10449.0IL10, IFNG, IL5
33tarc449.0IL10, IFNG, IL5
34ivig449.0IL5, IL10, IFNG
35allergens449.0IL5, IL10, IFNG
36thalidomide44 49 59 1112.0IL5, IFNG, IL10
37prednisolone44 28 1111.0IFNG, IL10, IL5
38ionomycin449.0IL10, IL5, IFNG
39tacrolimus44 49 1110.9IL5, IL10, IFNG
40paraffin448.9TRB, IL10, IL5
412,5-oligoadenylate448.9IL10, IFNG
42histamine44 28 2410.8IFNG, IL10, IL5
43etanercept44 49 1110.7IFNG, IL10
44genistein44 28 59 2 11 2413.7IL5, AHR, IFNG
45sb 20358044 599.5AHR, IL10, IFNG, IL5
46cyclosporin a44 28 5910.5IFNG, TRB, IL5, IL10
47pge2448.5IL10, IL5, AHR, IFNG
48cycloheximide448.5IL5, AHR, IL10, IFNG
49dexamethasone44 49 28 1111.4IL10, IL5, IFNG, AHR
50vegf448.4AHR, IFNG, IL5, IL10

GO Terms for genes affiliated with Eosinophilic Fasciitis

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16Gene Ontology
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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:0104689.2IL10, AHR
3positive regulation of MHC class II biosynthetic processGO:0453489.1IFNG, IL10
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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Eosinophilic Fasciitis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet