MCID: ESN015
MIFTS: 39

Eosinophilic Fasciitis malady

Categories: Rare diseases, Neuronal diseases, Bone diseases

Aliases & Classifications for Eosinophilic Fasciitis

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Sources:
45NIH Rare Diseases, 47Novoseek, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet, 27ICD10, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Eosinophilic Fasciitis:

Name: Eosinophilic Fasciitis 45 47 51 65
Shulman Syndrome 45 51
Diffuse Fasciitis with Eosinophilia 51
 
Eosinophilic Synovitis 65
Ef 45

Characteristics:

Orphanet epidemiological data:

51
eosinophilic fasciitis:
Age of onset: Adult; Age of death: normal life expectancy


Classifications:



External Ids:

Orphanet51 3165
ICD10 via Orphanet28 M35.4
UMLS via Orphanet66 C0264005
ICD1027 M35.4
UMLS65 C0264005, C2936881

Summaries for Eosinophilic Fasciitis

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NIH Rare Diseases:45 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. corticosteroids and other immune-suppressing medications are used to relieve the symptoms. eosinophilic fasciitis is similar in appearance to scleroderma but is not related. last updated: 11/12/2015

MalaCards based summary: Eosinophilic Fasciitis, also known as shulman syndrome, is related to fetal erythroblastosis and hepatitis, and has symptoms including muscular edema, cellulitis and myalgia. An important gene associated with Eosinophilic Fasciitis is AHR (Aryl Hydrocarbon Receptor), and among its related pathways are Glucocorticoid receptor regulatory network and Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include skin, bone and liver, and related mouse phenotypes are liver/biliary system and tumorigenesis.

Wikipedia:68 Eosinophilic fasciitis (/ˌiːəˌsɪnəˈfɪlɪk ˌfæʃiˈaɪtᵻs, ˌiːoʊ-, -ˌfæsi-/), also known... more...

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:

 51 (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 11)
id Description Frequency HPO Source Accession
1 muscular edema hallmark (90%) HP:0100748
2 cellulitis hallmark (90%) HP:0100658
3 myalgia hallmark (90%) HP:0003326
4 acrocyanosis hallmark (90%) HP:0001063
5 hypermelanotic macule hallmark (90%) HP:0001034
6 arthralgia typical (50%) HP:0002829
7 arthritis typical (50%) HP:0001369
8 myositis occasional (7.5%) HP:0100614
9 paresthesia occasional (7.5%) HP:0003401
10 weight loss occasional (7.5%) HP:0001824
11 eosinophilic fasciitis HP:0045029

Drugs & Therapeutics for Eosinophilic Fasciitis

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Drugs for Eosinophilic Fasciitis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
rituximabapprovedPhase 21582174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
2Immunologic FactorsPhase 218483
3Antirheumatic AgentsPhase 28496
4
Methotrexateapproved14441959-05-2, 59-05-2126941
Synonyms:
4-amino-10-methylfolic acid
4-amino-N(10)-Methylpteroylglutamic acid
Abitrexate
Amethopterin
Amethopterine
Antifolan
Arbitrexate
Emtexate
Folex
HDMTX
L-Amethopterin
Ledertrexate
MTX
Metatrexan
Methopterin
Methotextrate
 
Methotrate
Methotrexat
Methotrexate
Methotrexate Sodium
Methotrexatum
Methylaminopterin
Methylaminopterinum
Metoject
Metotrexato
Mexate
Méthotrexate
N-Bismethylpteroylglutamic Acid
N-[4-[[(2,4-Diamino-6-pteridinyl)methyl]methylamino]benzoyl]-L-glutamic acid
Otrexup
Rasuvo
Rheumatrex
Rheumatrex Dose Pack
Trexall
5
Folic Acidapproved, nutraceutical292459-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic Acid
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
 
Folsaeure
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
6Immunosuppressive Agents10422
7Antimetabolites9454
8Nucleic Acid Synthesis Inhibitors3836
9Dermatologic Agents4555
10Folic Acid Antagonists1643
11Vitamin B Complex2847
12Antimetabolites, Antineoplastic5770
13Vitamin B9Nutraceutical2924
14Folinic AcidNutraceutical2604
15FolateNutraceutical2924

Interventional clinical trials:

idNameStatusNCT IDPhase
1Prophylactic Plasma Infusion Therapy for Congenital Thrombotic Thrombocytopenic PurpuraWithdrawnNCT01754545Phase 4
2A Protocol Based Treatment for Debilitating Fibrosing Skin Disorders With (Anti-CD 20), Rituximab, Evaluating Safety and EfficacyActive, not recruitingNCT00936546Phase 2
3Treatment With High Dose Methotrexate in Patients With Eosinophilic FasciitisCompletedNCT00441961
4ADAMTS13 in Thrombotic Thrombocytopenic PurpuraCompletedNCT00426686
5Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome)RecruitingNCT01257269

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:

33
Skin, Bone, Liver, Heart, T cells, Lung, Breast

Animal Models for Eosinophilic Fasciitis or affiliated genes

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MGI Mouse Phenotypes related to Eosinophilic Fasciitis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.7AHR, IFNG, IL5
2MP:00020068.6AHR, IFNG, IL5
3MP:00053818.5AHR, IFNG, IL5
4MP:00053898.4AHR, IFNG, IL5
5MP:00053888.2AHR, IFNG, IL5

Publications for Eosinophilic Fasciitis

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Articles related to Eosinophilic Fasciitis:

(show top 50)    (show all 351)
idTitleAuthorsYear
1
The septal bulge-an early echocardiographic sign in hypertensive heart disease. (26850524)
2016
2
Giant cell hepatitis with autoimmune hemolytic anemia in a Korean infant. (26841192)
2016
3
Outcomes of Infants Born to Women Infected With Hepatitis B. (25896839)
2015
4
Close Relation of Large Cell Carcinoma to Adenocarcinoma by Hierarchical Cluster Analysis: Implications for Histologic Typing of Lung Cancer on Biopsies. (25789531)
2015
5
A case of sarcoidosis with interstitial lung disease mimicking clinically amyopathic dermatomyositis and rapidly progressive interstitial lung disease. (25431723)
2014
6
Effects of genetic and early environmental risk factors for depression on serotonin transporter expression and methylation profiles. (24937096)
2014
7
The intramuscular course of the greater occipital nerve: novel findings with potential implications for operative interventions and occipital neuralgia. (25422783)
2014
8
The association between CYP2C19 genotype and of in-stent restenosis among patients with vertebral artery stent treatment. (24330577)
2014
9
The synergistic regulation of VEGF-mediated angiogenesis through miR-190 and target genes. (24962367)
2014
10
The TLR9 gene polymorphisms and the risk of cancer: evidence from a meta-analysis. (23990988)
2013
11
Intraosseous hemangioma of the appendicular skeleton: imaging features of 15 cases, and a review of the literature. (22736082)
2012
12
Initial experience with the Codman Certas adjustable valve in the management of patients with hydrocephalus. (22995221)
2012
13
PTEN mutations as a cause of constitutive insulin sensitivity and obesity. (22970944)
2012
14
Cutaneous HPV23 E6 prevents p53 phosphorylation through interaction with HIPK2. (22110707)
2011
15
Preoperative and postoperative developmental attainment in patients with sagittal synostosis: 5-year follow-up. (21284455)
2011
16
Sequential central retinal artery occlusion and retinal vein stasis as a result of ocular ischemic syndrome. (20408094)
2010
17
Increased CXCL-13 levels in human African trypanosomiasis meningo-encephalitis. (19298637)
2009
18
Inhibition of poly(ADP-ribose) polymerase-1 enhances temozolomide and topotecan activity against childhood neuroblastoma. (19174487)
2009
19
Somatic mutations to CSMD1 in colorectal adenocarcinomas. (18614856)
2008
20
Etiological profile of stroke and its relation with prothrombotic states. (18759085)
2008
21
Lupus erythematosus panniculitis. (18793977)
2008
22
Cellular functions of GEF-H1, a microtubule-regulated Rho-GEF: is altered GEF-H1 activity a crucial determinant of disease pathogenesis? (18394899)
2008
23
Cataracts in transgenic mice caused by a human papillomavirus type 18 E7 oncogene driven by KRT1-14. (18723014)
2008
24
BCL-2 family antagonists for cancer therapy. (19043450)
2008
25
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. (17301081)
2007
26
Long-term bosentan in chronic thromboembolic pulmonary hypertension. (16699254)
2007
27
Zidovudine and interferon-alpha treatment induces a high response rate and reduces HTLV-1 proviral load and VEGF plasma levels in patients with adult T-cell leukemia from North East Iran. (17325893)
2007
28
Circulating small dense LDL, endothelial injuring factors and fibronectin in healthy postmenopausal women. (17433279)
2007
29
Melanoma cell adhesion molecule is a novel marker for human fetal myogenic cells and affects myoblast fusion. (16835268)
2006
30
Cranial base strategies for resection of craniopharyngioma in children. (16048295)
2005
31
Mitochondrial signals to nucleus regulate estrogen-induced cell growth. (15533631)
2005
32
Poor correlation between hemolysis and jaundice in glucose 6-phosphate dehydrogenase-deficient babies. (15910447)
2005
33
Asthma steroid pharmacogenetics: a study strategy to identify replicated treatment responses. (16113459)
2004
34
The emergence of a C/EBPalpha mutation in the clonal evolution of MDS towards secondary AML. (12592334)
2003
35
Phosphorylated claspin interacts with a phosphate-binding site in the kinase domain of Chk1 during ATR-mediated activation. (12963733)
2003
36
Troponin T levels in patients with acute coronary syndromes, with or without renal dysfunction. (12087140)
2002
37
MLL targets SET domain methyltransferase activity to Hox gene promoters. (12453418)
2002
38
The role of N-glycosylation in transport to the plasma membrane and sorting of the neuronal glycine transporter GLYT2. (11036075)
2001
39
Solution structure of a syndecan-4 cytoplasmic domain and its interaction with phosphatidylinositol 4,5-bisphosphate. (9582338)
1998
40
The hCSE1/CAS protein is phosphorylated by HeLa extracts and MEK-1: MEK-1 phosphorylation may modulate the intracellular localization of CAS. (9784396)
1998
41
Generation of normal lymphocyte populations following transplantation of adenosine-deaminase-deficient fetal liver cells. (9193758)
1997
42
Retardation of coronary atherosclerosis: the Bezafibrate Coronary Atherosclerosis Intervention Trial (BECAIT) and other angiographic trials. (9211018)
1997
43
Ropivacaine inhibits leukocyte rolling, adhesion and CD11b/CD18 expression. (9336308)
1997
44
Subcellular distribution of glucocorticoid receptor in cultured rat and human liver-derived cells and cell lines: influence of dexamethasone. (8855200)
1996
45
A novel TAP 2 gene RFLP observed in a Japanese. (8773329)
1996
46
The role of cytochrome P450 3A (CYP3A) isoform(s) in oxidative metabolism of testosterone and benzphetamine in human adult and fetal liver. (8424894)
1993
47
Dengue hemorrhagic fever in Cuba, 1981: a retrospective seroepidemiologic study. (2316788)
1990
48
Pernicious anemia in a patient with hypogammaglobulinemia. (2239305)
1990
49
Photochemotherapy in cutaneous T cell lymphoma and parapsoriasis en plaques. Long-term follow-up in forty-three patients. (3878369)
1985
50
A case of neonatal thyrotoxicosis. (5588736)
1967

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.

GO Terms for genes affiliated with Eosinophilic Fasciitis

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

idNameGO IDScoreTop Affiliating Genes
1cytokine-mediated signaling pathwayGO:00192219.5IFNG, IL5
2positive regulation of cell proliferationGO:00082849.1IFNG, IL5
3immune responseGO:00069558.8IFNG, IL5
4positive regulation of transcription, DNA-templatedGO:00458938.8AHR, IFNG, IL5

Sources for Eosinophilic Fasciitis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet