ECD
MCID: ERD001
MIFTS: 66

Erdheim-Chester Disease (ECD) malady

Rare diseases, Bone diseases, Skin diseases, Immune diseases categories
Download this MalaCard

Summaries for Erdheim-Chester Disease

About this section
Sources:
43NIH Rare Diseases, 65Wikipedia, 33MalaCards
See all sources

Fully expand this MalaCard
NIH Rare Diseases:43 Erdheim-chester disease is a rare condition that can affect many different organs of the body. this condition, which usually affects adults, is characterized by excessive production and accumulation of histiocytes (specific cells that normally play a role in responding to infection and injury) within multiple tissues and organs. as a result, these tissues and organs become thickened, dense and fibrotic. sites of involvement may include the long bones, skin, tissues behind the eyeballs, lungs, brain, and pituitary gland, among others. signs and symptoms, as well as disease course, depend on the specific location and extent of involvement. without successful treatment, organ failure can occur. last updated: 3/2/2010

MalaCards: Erdheim-Chester Disease, also known as erdheim chester disease, is related to interstitial lung disease and atopic dermatitis, and has symptoms including cough, pericardium anomalies/pericarditis/absence/cysts/pericardial effusion and heart/cardiac failure. An important gene associated with Erdheim-Chester Disease is CCR6 (chemokine (C-C motif) receptor 6), and among its related pathways are LDL Oxidation in Atherogenesis and Neuropeptides signaling through G protein alpha i and G protein alpha q. The compounds ccl2 and [125i]ccl5 (human) have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and skin, and related mouse phenotypes are tumorigenesis and digestive/alimentary.

Wikipedia:65 Erdheim?Chester disease (also known as Erdheim?Chester syndrome or polyostotic sclerosing histiocytosis)... more...

Aliases & Classifications for Erdheim-Chester Disease

About this section
Sources:
8Disease Ontology, 43NIH Rare Diseases, 49Orphanet, 62UMLS, 40NCIt, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
erdheim-chester disease:
Age of onset: Adulthood; Age of death: Any age


Aliases & Descriptions:

erdheim-chester disease 8 43 49 62
erdheim chester disease 43
lipoid granulomatosis 43
ecd 43


External Ids:

Disease Ontology8 DOID:4329
NCIt40 C53972
MeSH35 D031249
MESH via Orphanet36 D031249
ICD10 via Orphanet26 D76.3
UMLS via Orphanet63 C0878675

Related Diseases for Erdheim-Chester Disease

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Erdheim-Chester Disease:



Diseases related to erdheim-chester disease

Symptoms for Erdheim-Chester Disease

About this section
Sources:
49Orphanet
See all sources


Symptoms:

49 (show all 43)
  • cough
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • heart/cardiac failure
  • renal failure
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • ataxia/incoordination/trouble of the equilibrium
  • hypereflexia
  • elocution disorders/dysarthria/dysphonia
  • osteonecrosis/bone infarction
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • anaemia
  • early death/lethality
  • osteolysis/osteoclasia/bone destruction/erosions
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • lung fibrosis
  • fever/chilling
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • epiphyseal anomaly
  • metaphyseal anomaly
  • bone pain
  • osteomyelitis/osteitis/periostitis/spondylodisciitis
  • osteosclerosis/osteopetrosis/bone condensation
  • late puberty/hypogonadism/hypogenitalism
  • diabetes insipidus
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • xanthomas/lipomas
  • hyperhidrosis/increased sweating
  • thirst
  • asthenia/fatigue/weakness
  • acute abdominal pain/colic
  • ground-glass/reticular/alveolar/interstitial lung/pulmonary opacity
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • cutaneous rash
  • ptosis
  • nystagmus
  • mild visual loss/impaired visual acuity
  • hydrarthrosis/articular/joint effusion
  • functional anomalies of the kidney and the urinary tract
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • renal/kidney anomalies
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • proptosis/exophthalmos

Drugs & Therapeutics for Erdheim-Chester Disease

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Erdheim-Chester Disease

Search NIH Clinical Center for Erdheim-Chester Disease

Genetic Tests for Erdheim-Chester Disease

About this section

Anatomical Context for Erdheim-Chester Disease

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Erdheim-Chester Disease:

33
Bone, Lung, Skin, Brain, Pituitary, Bone marrow, Kidney, Breast, Cerebellum, Heart, Liver, Spinal cord, Thyroid, Endothelial, Testes, Lymph node

Animal Models for Erdheim-Chester Disease or affiliated genes

About this section
Sources:
37MGI
See all sources

MGI Mouse Phenotypes related to Erdheim-Chester Disease:

37 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.3IGF1, BRAF, CCL2, CCR5, IL1B
2MP:00053818.1BRAF, PRKG1, SST, CCL2, CCR7, CCR5
3MP:00053757.9IGF1, BRAF, PRKG1, CCL2
4MP:00053867.9S100B, CCR5, CCL2, SST, PRKG1, BRAF
5MP:00053697.8IGF1, BRAF, PRKG1, CCL2, CCR5
6MP:00028737.5IGF1, BRAF, PRKG1, SST, CCL2, CCR6
7MP:00053847.4IGF1, BRAF, PRKG1, CCL2, CCR7, CCR5
8MP:00053857.1IGF1, BRAF, PRKG1, CCL2, CCR5, IL1B
9MP:00053976.8IGF1, BRAF, PRKG1, CCL2, CCR7, CCR5
10MP:00036316.7IGF1, BRAF, PRKG1, SST, CCL2, CCR7
11MP:00053876.1CRP, IGF1, BRAF, PRKG1, SST, CCL2
12MP:00053766.0SST, PRKG1, BRAF, IGF1, CCL2, CCR7

Publications for Erdheim-Chester Disease

About this section
Sources:
52PubMed
See all sources

Articles related to Erdheim-Chester Disease:

(show top 50)    (show all 313)
idTitleAuthorsYear
1
Erdheim-Chester disease and Schnitzler syndrome: so near, and yet so far. (24046179)
2013
2
Erdheim-Chester disease: an uncommon cause of upper urinary tract obstruction. (24088590)
2013
3
Erdheim-Chester Disease With Prominent Pericardial Effusion: Cytologic Findings and Review of the Literature. (23447119)
2013
4
BRAF mutations in Erdheim-Chester disease. (23248255)
2013
5
Hand-SchA1ller-Christian disease and Erdheim-Chester disease: coexistence and discrepancy. (23299772)
2013
6
Paroxysmal exertion-induced dystonia secondary to Erdheim-Chester disease. (22980524)
2013
7
Erdheim-Chester disease. (23597965)
2013
8
Successful treatment of Erdheim-Chester disease by interleukin-1 receptor antagonist protein. (23953221)
2013
9
Postoperative cardiac homograft involvement in Erdheim-Chester disease. (22808847)
2012
10
Histiocytosis for the neurologist: a case of Erdheim-Chester disease. (22976062)
2012
11
Pericardial effusion as a crucial presentation of Erdheim-Chester disease in a hemodialysis patient: an overlooked diagnosis. (22732342)
2012
12
Reply to commentary on "a case of erdheim-chester disease with asymptomatic renal involvement". (23341795)
2012
13
Erdheim-Chester disease with extensive coronary arterial involvement. (21566495)
2011
14
Presence of Erdheim-Chester disease and Langerhans cell histiocytosis in the same patient: a report of 2 cases. (21326112)
2011
15
Erdheim-Chester disease: multisystem involvement and management with interferon-alpha. (19679354)
2010
16
Pulmonary involvement in Erdheim-Chester disease: a single-center study of thirty-four patients and a review of the literature. (20662053)
2010
17
A case of osteoarthropathy due to Erdheim-Chester disease with overlapping Langerhans' cell infiltration. (20558949)
2010
18
Non-Langerhans cell histiocytosis with isolated CNS involvement: an unusual variant of Erdheim-Chester disease. (20337948)
2010
19
Polyostotic sclerosing histiocytosis (Erdheim-Chester disease) treated with combined vertebroplasty and radiation therapy. (20968148)
2010
20
18F-fluorodeoxyglucose-positron emission tomography scanning is more useful in followup than in the initial assessment of patients with Erdheim-Chester disease. (19790052)
2009
21
A rare histiocytosis with severe cardiac involvement: Erdheim-Chester disease. (18717219)
2008
22
Unmasked diabetes insipidus after pericardial drainage and biopsy for pericardial effusion in association with Erdheim-Chester disease. (18603080)
2008
23
Intracranial lesion of Erdheim-Chester disease. (17509397)
2007
24
Tc-99m MDP bone scintigraphy and positron emission tomography/computed tomography (PET/CT) imaging in Erdheim-Chester disease. (17179801)
2007
25
Radiotherapy for Erdheim-Chester disease. (17566851)
2007
26
An unusual case of Erdheim-Chester disease with features of Langerhans cell histiocytosis. (17492445)
2007
27
Erdheim-Chester disease: a rare cause of renal failure. (17395655)
2007
28
Immunohistochemical evidence of a cytokine and chemokine network in three patients with Erdheim-Chester disease: implications for pathogenesis. (17133532)
2006
29
Laparoscopic biopsy and ureterolysis in Erdheim-Chester disease. (15819294)
2005
30
Diagnosis of Erdheim-Chester disease by using computerized tomography-guided stereotactic biopsy of a caudate lesion. Case report. (15352612)
2004
31
Erdheim-Chester disease mimicking a primary brain tumor. Case report. (15200134)
2004
32
Images in neuroscience: question. Erdheim-Chester disease. (14975419)
2004
33
Images in cardiovascular medicine. High resolution images obtained with ultrasound and magnetic resonance imaging of pericarotid fibrosis in Erdheim-Chester disease. (15477423)
2004
34
Erdheim-Chester disease. (12869045)
2003
35
Erdheim-Chester disease with early onset atherosclerosis and a pseudo-malignant phase. (12594120)
2003
36
Failure of radiation therapy for brain involvement in Erdheim Chester disease. (12241111)
2002
37
Interferon therapy for orbital infiltration secondary to Erdheim-Chester disease. (11730673)
2001
38
Erdheim-Chester disease. A case report. (11499297)
2001
39
Two enlarged kidneys: a manifestation of Erdheim-Chester disease. (11509804)
2001
40
A case of Erdheim-Chester disease with bilateral orbital involvement. (12567744)
2001
41
Cardiac tumor due to Erdheim-Chester disease. (11755517)
2001
42
Pulmonary involvement with Erdheim-Chester disease: radiographic and CT findings. (10789787)
2000
43
Erdheim-Chester disease with intramuscular lipogranuloma. (10855472)
2000
44
Pseudotumoral bilateral involvement of the breast in Erdheim-Chester disease: CT appearance. (10752893)
2000
45
Erdheim-Chester disease: radiographic findings in five patients. (9554002)
1998
46
Erdheim-Chester disease: a case report with immunohistochemical and biochemical examination. (8543320)
1996
47
Erdheim-Chester disease with epiphyseal and systemic disease. (8320335)
1993
48
Premature alveolar bone loss in Erdheim-Chester disease. (2216355)
1990
49
Langerhans cell histiocytosis with the radiographic findings of Erdheim-Chester disease. (3258103)
1988
50
Erdheim-Chester disease: computed tomography in two cases. (3923805)
1985

Variations for Erdheim-Chester Disease

About this section

Expression for genes affiliated with Erdheim-Chester Disease

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Erdheim-Chester Disease

Search GEO for disease gene expression data for Erdheim-Chester Disease.

Pathways for genes affiliated with Erdheim-Chester Disease

About this section
Sources:
50PathCards, 53QIAGEN, 12EMD Millipore, 38NCBI BioSystems Database, 55Reactome, 30KEGG, 60Thomson Reuters, 54R&D Systems
See all sources

Pathways related to Erdheim-Chester Disease according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5IL1B, CCL2
2
Show member pathways
Peptide GPCRs38
9.4CCR6, CCR3, CCR5, CCR7
3
Show member pathways
9.3BRAF, CCR5, IL1B
4
Show member pathways
9.1S100B, IL1B, CCL4
5
Show member pathways
Immune response IL 12 induced IFN gamma production60
9.1CCR5, CCL4, IL1B
6
Show member pathways
thioredoxin pathway38
9.1CRP, IL1B, CCL2
7
Show member pathways
Toll-like receptor signaling pathway38
Regulation of toll-like receptor signaling pathway38
9.0IL1B, CCL4, CCL2
89.0IGF1, BRAF, IL1B
98.7PRKG1, BRAF, IGF1
10
Show member pathways
8.4CCL4, CCL2, CCR7, CCR5, CCR3, CCR6
11
Show member pathways
8.1SST, CCL2, CCR7, CCR5, CCR3, CCR6
12
Show member pathways
8.0BRAF, CCL2, CCR7, CCR5, CCR3, CCR6
13
Show member pathways
8.0BRAF, CCL2, CCR7, CCR5, CCR3, CCR6
14
Show member pathways
8.0IGF1, BRAF, CCL2, CCL4, IL1B
15
Show member pathways
7.5BRAF, CCL2, CCR7, CCR5, CCR3, CCR6
16
Show member pathways
7.3CCL4, CCR6, CCR3, CCR5, CCR7, CCL2
17
Show member pathways
7.3IGF1, IL1B, CCL4, CCR6, CCR3, CCR5
18
Show member pathways
6.9IGF1, BRAF, CCL2, CCR7, CCR5, CCR3
19
Show member pathways
6.0IGF1, BRAF, PRKG1, SST, CCL2, CCR7

Compounds for genes affiliated with Erdheim-Chester Disease

About this section
Sources:
29IUPHAR, 45Novoseek, 51PharmGKB, 24HMDB, 11DrugBank, 61Tocris Bioscience, 3BitterDB
See all sources

Compounds related to Erdheim-Chester Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 138)
idCompoundScoreTop Affiliating Genes
1ccl2299.9CCR3, CCR5
2[125i]ccl5 (human)299.9CCR3, CCR5
3mcp 1459.6CCL4, CCL2, CCR3
4turpentine459.5CRP, IL1B
5somatuline459.4IGF1, SST
6toxin-1459.4CCL4, IL1B, CCL2
7mdms459.4CCR5, CCL2, CCL4, S100B
8omeprazole45 51 29 24 1113.3SST, IL1B, CRP
9sulfasalazine29 45 51 1112.3CRP, IL1B, CCL2
10muramyl tripeptide459.2IL1B, CCL2
11triptolide459.2IL1B, CCR7, CCL2, CCL4
12larc459.1CCL4, CCL2, CCR7, CCR5, CCR6
13mip 1alpha459.1CCR5, IL1B, CCL2, CCL4
14groalpha459.1IL1B, CCL2, CCR5, CCL4
15il 10459.1CCR5, CCL4, CCL2, IL1B
16simvastatin45 51 61 29 24 1114.0CCL2, CCL4, CRP, CCR5
17ivig459.0CCL4, CRP, CCR5, IL1B
18norepinephrine45 24 1111.0S100B, CRP, CCR7, CCL2, SST
19nitroglycerin45 1110.0PRKG1, SST, CRP
20tarc458.9CCR6, CCR5, CCL2, CCR7, CCR3, CCL4
21acth458.8SST, IL1B, IGF1, S100B
22endotoxin458.8CCL2, CCL4, IL1B, CRP
23rapamycin458.7IGF1, BRAF, SST, CRP, CCR5
24glutamine458.7S100B, CRP, CCR5, CCL2, IGF1
25actinomycin d458.6IL1B, IGF1, CCL2, CCR5, CCR3
26genistein45 29 61 3 24 1113.6IL1B, CCL2, IGF1, SST, CCR3
27ccl345 299.6CCL2, CCR7, CCR5, CCR3, CCL4, IL1B
28ccl445 299.6CCR6, CCL2, CCR7, CCR5, CCR3, CCL4
29histamine45 29 2410.5IL1B, CCL4, CCR3, CCR5, CCL2, SST
30pge2458.5SST, CCL2, CCR5, CCL4, IL1B, CCR7
31ly294002458.4IL1B, CCL2, IGF1, CRP, BRAF
32arginine458.4CCR5, S100B, SST, BRAF, IGF1, CCL2
33creatinine458.4CCL2, CRP, CCL4, IGF1, S100B
34wortmannin458.4BRAF, CCL2, CCR3, CCL4, S100B, IGF1
35pd 98,059458.4BRAF, CCL2, CCL4, IL1B, IGF1
36alanine458.3CCR7, BRAF, CCL4, CCR5, CCR3, S100B
37rantes458.3CCL2, CCR7, CCR5, CCR3, CCR6, CCL4
38aspartate458.2CRP, BRAF, PRKG1, S100B, CCR5, CCL2
39thymidine45 249.2S100B, CCR3, PRKG1, IGF1, IL1B
40sb 20358045 619.0IGF1, BRAF, CCL2, CCL4, IL1B, CRP
41cycloheximide458.0CRP, IL1B, CCL4, CCL2, SST, IGF1
42testosterone45 61 24 1110.9S100B, CCL2, SST, PRKG1, CRP, IGF1
43lipid457.7BRAF, PRKG1, CCL2, CCR7, CCR3, CCR6
44retinoic acid45 248.6CCR5, CCL4, S100B, IL1B, IGF1, BRAF
45dexamethasone45 51 29 1110.6CCR3, S100B, SST, CCL2, CCR5, CCL4
46glucose457.5SST, PRKG1, BRAF, IGF1, S100B, CRP
47serine457.4IGF1, PRKG1, CCL2, CCR5, CCL4, S100B
48tyrosine457.3PRKG1, IGF1, S100B, CCR7, CCR5, CCR3
49calcium45 51 24 119.9PRKG1, CRP, CCR6, CCR3, CCR5, CCR7
50vegf456.3PRKG1, S100B, CRP, IL1B, CCL4, CCR6

GO Terms for genes affiliated with Erdheim-Chester Disease

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Erdheim-Chester Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neuronal cell bodyGO:0430259.4S100B, CCL2, SST
2extracellular spaceGO:0056157.3S100B, IGF1, SST, CCL2, CCL4, IL1B
3plasma membraneGO:0058867.2IGF1, BRAF, PRKG1, CCR7, CCR5, CCR3
4extracellular regionGO:0055767.2IGF1, SST, CCL2, CCL4, IL1B, CRP

Biological processes related to Erdheim-Chester Disease according to GeneCards/GeneDecks:

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1dendritic cell chemotaxisGO:00240710.0CCR6, CCR5, CCR7
2response to amino acidGO:0432009.9SST, CCL2
3cellular defense responseGO:0069689.9CCR5, CCR3, CCR6
4cellular response to calcium ionGO:0712779.8CRP, BRAF
5lipopolysaccharide-mediated signaling pathwayGO:0316639.7IL1B, CCL2
6response to heatGO:0094089.7CCL2, SST
7protein kinase B signalingGO:0434919.7CCL2, IL1B
8positive regulation of cytosolic calcium ion concentrationGO:0072049.7CCR7, CCR5, CCR3, CCR6
9positive regulation of I-kappaB kinase/NF-kappaB signalingGO:0431239.6S100B, IL1B, CCR7
10cell surface receptor signaling pathwayGO:0071669.6CCR5, CCL2, SST
11cellular response to organic cyclic compoundGO:0714079.6CCL2, IL1B
12chemotaxisGO:0069359.5CCR6, CCR3, CCR5, CCL2
13blood vessel remodelingGO:0019749.5CCR5, IGF1
14MAPK cascadeGO:0001659.5IL1B, CCR5, CCL2
15positive regulation of mitosisGO:0458409.5IL1B, IGF1
16G-protein coupled receptor signaling pathwayGO:0071869.4CCR5, CCR7, CCL2, SST
17cellular component movementGO:0069289.3IGF1, CCR6, CCL4
18chemokine-mediated signaling pathwayGO:0700989.3CCR6, CCR3, CCR5, CCR7, CCL2
19neutrophil chemotaxisGO:0305939.2IL1B, CCL2
20extrinsic apoptotic signaling pathway in absence of ligandGO:0971929.2IL1B, IGF1
21cell-cell signalingGO:0072679.1IL1B, CCL4, CCR5, SST
22immune responseGO:0069558.9CCR7, CCR5, CCR6, CCL4, IL1B
23inflammatory responseGO:0069548.0CCL2, CCR7, CCR5, CCR3, CCL4, IL1B
24signal transductionGO:0071657.6IGF1, PRKG1, CCL2, CCR6, CCL4, IL1B

Molecular functions related to Erdheim-Chester Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chemokine receptor activityGO:0049509.6CCR6, CCR3, CCR5
2C-C chemokine receptor activityGO:0164939.1CCR6, CCR3, CCR5, CCR7

Products for genes affiliated with Erdheim-Chester Disease

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Erdheim-Chester Disease

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet