MCID: ESN015
MIFTS: 46

Eosinophilic Fasciitis malady

Categories: Rare diseases, Neuronal diseases, Bone diseases

Aliases & Classifications for Eosinophilic Fasciitis

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Sources:
50OMIM, 46NIH Rare Diseases, 52Orphanet, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet, 28ICD10, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Eosinophilic Fasciitis:

Name: Eosinophilic Fasciitis 50 46 52 48 66
Shulman Syndrome 46 52
Diffuse Fasciitis with Eosinophilia 52
 
Eosinophilic Synovitis 66
Ef 46

Characteristics:

Orphanet epidemiological data:

52
eosinophilic fasciitis:
Age of onset: Adult; Age of death: normal life expectancy

HPO:

62
eosinophilic fasciitis:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 226350
Orphanet52 ORPHA3165
ICD10 via Orphanet29 M35.4
UMLS via Orphanet67 C0264005
ICD1028 M35.4

Summaries for Eosinophilic Fasciitis

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NIH Rare Diseases:46 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 fasciitis and fetal erythroblastosis, and has symptoms including hypermelanotic macule, acrocyanosis 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 thyroid, and related mouse phenotypes are neoplasm and reproductive system.

Wikipedia:69 Eosinophilic fasciitis (/ˌiːəˌsɪnəˈfɪlɪk ˌfæʃiˈaɪtᵻs, ˌiːoʊ-, -ˌfæsi-/), also known... more...

Description from OMIM:50 226350

Related Diseases for Eosinophilic Fasciitis

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

(show top 50)    (show all 139)
idRelated DiseaseScoreTop Affiliating Genes
1fasciitis11.0
2fetal erythroblastosis11.0
3colorectal cancer10.4
4prostate cancer10.3
5eosinophilia10.2
6lymphoma10.2
7eosinophilia-myalgia syndrome10.2
8neuronitis10.2
9arthritis10.1
10cholesteatoma of middle ear10.1IFNG, IL5
11thomsen and becker disease10.1IFNG, IL5
12gonococcal synovitis10.1IFNG, IL5
13acute gonococcal salpingitis10.1IFNG, IL5
14opiate dependence10.1IFNG, IL5
15cervix melanoma10.1IFNG, IL5
16thyroiditis10.1
17orbit alveolar rhabdomyosarcoma10.1AHR, IFNG
18idiopathic neutropenia10.1IFNG, IL5
19buphthalmos10.1IFNG, IL5
20tetanus neonatorum10.1IFNG, IL5
21x-linked intellectual disability, siderius type10.1IFNG, IL5
22reproductive system disease10.1IFNG, IL5
23sarcoid meningitis10.1IFNG, IL5
24alzheimer disease10.1
25wissler's syndrome10.1IFNG, IL5
26linear scleroderma10.1
27dengue disease10.1IFNG, IL5
28gastric ulcer10.1IFNG, IL5
29churg-strauss syndrome10.1IFNG, IL5
30exophthalmos10.0IFNG, IL5
31conventional malignant hemangiopericytoma10.0IFNG, IL5
32blind hypotensive eye10.0IFNG, IL5
33endometriosis10.0
34systemic lupus erythematosus10.0
35aplastic anemia10.0
36localized scleroderma10.0
37lupus erythematosus10.0
38lung sarcoma10.0IFNG, IL5
39alternating exotropia10.0IFNG, IL5
40arcus senilis10.0IFNG, IL5
41uterine corpus dissecting leiomyoma10.0IFNG, IL5
42deafness, autosomal recessive 6210.0IFNG, IL5
43chronic interstitial cystitis10.0
44motion sickness10.0IFNG, IL5
45cutaneous t cell lymphoma10.0
46colitis10.0
47myositis10.0
48connective tissue disease10.0
49vasculitis10.0
50scleredema10.0

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:

 52 (show all 16)
  • edema
  • acrocyanosis
  • arthritis
  • subcutaneous nodule
  • weight loss
  • abnormality of eosinophils
  • eosinophilia
  • arthralgia
  • myalgia
  • paresthesia
  • fatigue
  • macule
  • fasciitis
  • myositis
  • cellulitis
  • muscular edema

HPO human phenotypes related to Eosinophilic Fasciitis:

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
rituximabPhase 21611174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
2
Methotrexate14961959-05-2, 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 Sodium
Methotrexatum
Methylaminopterin
Methylaminopterinum
Metotrexato
Mexate
Méthotrexate
N-Bismethylpteroylglutamic Acid
N-[4-[[(2,4-Diamino-6-pteridinyl)methyl]methylamino]benzoyl]-L-glutamic acid
Rheumatrex
Trexall
3FolateNutraceutical4143
4
Folic AcidNutraceutical414359-30-36037
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 (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

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
6Shulman Fasciitis Prevalence Study in AlsaceNot yet recruitingNCT02829112

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:

34
Skin, Bone, Thyroid, T cells, Bone marrow, Neutrophil, B cells

Animal Models for Eosinophilic Fasciitis or affiliated genes

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MGI Mouse Phenotypes related to Eosinophilic Fasciitis:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.8AHR, IFNG, IL5
2MP:00053897.7AHR, BMP6, IFNG, IL5

Publications for Eosinophilic Fasciitis

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Articles related to Eosinophilic Fasciitis:

(show top 50)    (show all 367)
idTitleAuthorsYear
1
Eosinophilic Fasciitis Illustrated by [(18)F] FDG-PET/CT. (27523020)
2016
2
Shulman disease (eosinophilic fasciitis) in X-linked agammaglobulinemia. (27543875)
2016
3
Paraneoplastic eosinophilic fasciitis with generalized morphea and vitiligo in a patient working with organic solvents. (26507670)
2015
4
Eosinophilic fasciitis]. (25897110)
2015
5
Diagnosis and classification of eosinophilic fasciitis. (24424187)
2014
6
Usefulness of FDG PET/CT in the Diagnosis of Eosinophilic Fasciitis. (24152641)
2013
7
Generalized morphea developing in a patient previously affected with eosinophilic fasciitis. (22960833)
2012
8
Unusual skin involvement in eosinophilic fasciitis. (21070330)
2011
9
Eosinophilic fasciitis mimicking angioedema and treatment response to infliximab in a pediatric patient. (21530881)
2011
10
Post-radiation scleredema adultorum and diffuse eosinophilic fasciitis in the same patient. (21077802)
2011
11
AHR activation by tryptophan--pathogenic hallmark of Th17-mediated inflammation in eosinophilic fasciitis, eosinophilia-myalgia-syndrome and toxic oil syndrome? (19941898)
2010
12
Eosinophilic fasciitis secondary to intravenous iron infusions. (20492822)
2010
13
From diagnosis to remission: place of MRI in eosinophilic fasciitis. (20532934)
2010
14
An amyotrophic lateral sclerosis mimicker: eosinophilic fasciitis. (19099133)
2008
15
Eosinophilic fasciitis secondary to treatment with atorvastatin. (16309506)
2006
16
Eosinophilic fasciitis in a child mimicking a myopathy. (16427783)
2006
17
Eosinophilic fasciitis successfully treated with cyclosporine. (15864687)
2005
18
Elevated serum levels of manganese superoxide dismutase in patients with eosinophilic fasciitis. (14677046)
2003
19
Extracorporeal photochemotherapy in the treatment of eosinophilic fasciitis. (12602960)
2003
20
Eosinophilic fasciitis and eosinophilic cellulitis in a patient with abnormal circulating clonal T cells: increased production of interleukin 5 and inhibition by interferon alfa. (14639411)
2003
21
Eosinophilic fasciitis with multiple myeloma: a new haematological association. (12429547)
2002
22
Eosinophilic fasciitis treated with psoralen-ultraviolet A bath photochemotherapy. (10792237)
2000
23
Eosinophilic fasciitis--progression to linear scleroderma: a case report. (10770102)
1999
24
Lymph-node-based malignant lymphoma and reactive lymphadenopathy in eosinophilic fasciitis. (10555099)
1999
25
Possible association between eosinophilic fasciitis and subcutaneous heparin use. (9489839)
1998
26
Aplastic anemia in eosinophilic fasciitis: responses to immunosuppression and marrow transplantation. (9283913)
1997
27
Acquired ichthyosis associated with eosinophilic fasciitis. (8647977)
1996
28
Eosinophilic fasciitis: report of a case diagnosed 14 years after its onset. (8684673)
1995
29
Association of eosinophilic fasciitis, multiple morphea and antiphospholipid antibody. (7949491)
1994
30
Eosinophilic fasciitis in children frequently progresses to scleroderma-like cutaneous fibrosis. (8441144)
1993
31
Childhood eosinophilic fasciitis presenting as inflammatory polyarthritis and associated with selective IgA deficiency. (1929589)
1991
32
Eosinophilic fasciitis associated with use of L-tryptophan: a case-control study and comparison of clinical and histopathologic features. (1921498)
1991
33
Magnetic resonance imaging in eosinophilic fasciitis. (2066964)
1991
34
Eosinophilic fasciitis. Increased collagen production and type I procollagen messenger RNA levels in fibroblasts cultured from involved skin. (2334180)
1990
35
Conjunctival chemosis in eosinophilic fasciitis. (2606225)
1989
36
Overlap syndromes, mixed connective tissue disease, and eosinophilic fasciitis. (2702056)
1989
37
Eosinophilic fasciitis with porphyria cutanea tarda and progressive destructive arthritis. (2724256)
1989
38
Morphea developing in patients previously affected with eosinophilic fasciitis. Report of two cases. (3238279)
1988
39
Frequency, levels, and significance of blood eosinophilia in systemic sclerosis, localized scleroderma, and eosinophilic fasciitis. (3668010)
1987
40
Eosinophilic fasciitis presenting as inflammatory polyarthritis. (3748691)
1986
41
Eosinophilic fasciitis in an African--possible benefit of chloroquine treatment. (6494091)
1984
42
Cimetidine and eosinophilic fasciitis. (6848032)
1983
43
Eosinophilic fasciitis: a distinct clinical entity? (6614045)
1983
44
Eosinophilic fasciitis (Shulman syndrome) with prominent synovitis. (7107221)
1982
45
Eosinophilic fasciitis and pernicious anemia with thyroid antibodies. (7175847)
1982
46
A new case of eosinophilic fasciitis. (7398999)
1980
47
Eosinophilic fasciitis. (7436214)
1980
48
Cutaneous sclerosis in eosinophilic fasciitis. (510651)
1979
49
Eosinophilic fasciitis with megakaryocyte aplasia. (552438)
1979
50
Eosinophilic fasciitis. (686723)
1978

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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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
1positive regulation of neuron differentiationGO:00456669.0BMP6, IFNG
2positive regulation of transcription, DNA-templatedGO:00458939.0AHR, IFNG, IL5
3positive regulation of transcription from RNA polymerase II promoterGO:00459448.5AHR, BMP6, IFNG

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

idNameGO IDScoreTop Affiliating Genes
1growth factor activityGO:00080839.1BMP6, IL5
2cytokine activityGO:00051258.2BMP6, IFNG, IL5

Sources for Eosinophilic Fasciitis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet