MCID: ERD001
MIFTS: 48

Erdheim-Chester Disease malady

Rare diseases, Bone diseases, Skin diseases, Immune diseases categories

Aliases & Classifications for Erdheim-Chester Disease

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Sources:
45NIH Rare Diseases, 10Disease Ontology, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 65UMLS, 36MeSH, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Erdheim-Chester Disease:

Name: Erdheim-Chester Disease 10 45 23 12 51 65 36
Polyostotic Sclerosing Histiocytosis 23
Erdheim Chester Disease 45
 
Lipoid Granulomatosis 45
Lipid Granulomatosis 23
Ecd 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
erdheim-chester disease:
Age of onset: Adult; Age of death: any age


External Ids:

Disease Ontology10 DOID:4329
MeSH36 D031249
NCIt42 C53972
Orphanet51 35687
ICD10 via Orphanet28 D76.3
MESH via Orphanet37 D031249
UMLS via Orphanet66 C0878675

Summaries for Erdheim-Chester Disease

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NIH Rare Diseases:45 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 based summary: Erdheim-Chester Disease, also known as polyostotic sclerosing histiocytosis, is related to endotheliitis and histiocytosis, and has symptoms including abnormality of the genital system, proptosis and diabetes insipidus. An important gene associated with Erdheim-Chester Disease is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways are Bladder cancer and Vemurafenib Pathway, Pharmacodynamics. Affiliated tissues include bone, lung and skin, and related mouse phenotypes are tumorigenesis and immune system.

Genetics Home Reference:23 Erdheim-Chester disease is a rare disorder characterized by histiocytosis, a condition in which the immune system produces excess quantities of cells called histiocytes. Histiocytes normally function to destroy foreign substances and protect the body from infection. Erdheim-Chester disease is classified as a form of non-Langerhans cell histiocytosis to distinguish it from Langerhans cell histiocytosis, which involves accumulation of a specific type of histiocyte called Langerhans cells. In Erdheim-Chester disease, histiocytosis leads to inflammation that can damage organs and tissues throughout the body, causing them to become thickened, dense, and scarred (fibrotic); this tissue damage may lead to organ failure.

Related Diseases for Erdheim-Chester Disease

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



Diseases related to erdheim-chester disease

Symptoms for Erdheim-Chester Disease

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Symptoms:

 51 (show all 43)
  • proptosis/exophthalmos
  • hyperhidrosis/increased sweating
  • xanthomas/lipomas
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • diabetes insipidus
  • late puberty/hypogonadism/hypogenitalism
  • osteosclerosis/osteopetrosis/bone condensation
  • osteolysis/osteoclasia/bone destruction/erosions
  • osteomyelitis/osteitis/periostitis/spondylodisciitis
  • bone pain
  • metaphyseal anomaly
  • epiphyseal anomaly
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • fever/chilling
  • thirst
  • asthenia/fatigue/weakness
  • acute abdominal pain/colic
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • renal/kidney anomalies
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • functional anomalies of the kidney and the urinary tract
  • hydrarthrosis/articular/joint effusion
  • mild visual loss/impaired visual acuity
  • nystagmus
  • ptosis
  • cutaneous rash
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • ground-glass/reticular/alveolar/interstitial lung/pulmonary opacity
  • lung fibrosis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • 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

HPO human phenotypes related to Erdheim-Chester Disease:

(show all 34)
id Description Frequency HPO Source Accession
1 abnormality of the genital system hallmark (90%) HP:0000078
2 proptosis hallmark (90%) HP:0000520
3 diabetes insipidus hallmark (90%) HP:0000873
4 abnormality of the metaphyses hallmark (90%) HP:0000944
5 hyperhidrosis hallmark (90%) HP:0000975
6 multiple lipomas hallmark (90%) HP:0001012
7 weight loss hallmark (90%) HP:0001824
8 bone pain hallmark (90%) HP:0002653
9 osteomyelitis hallmark (90%) HP:0002754
10 osteolysis hallmark (90%) HP:0002797
11 abnormality of temperature regulation hallmark (90%) HP:0004370
12 abnormality of epiphysis morphology hallmark (90%) HP:0005930
13 increased bone mineral density hallmark (90%) HP:0011001
14 joint swelling typical (50%) HP:0001386
15 abnormality of the aortic valve typical (50%) HP:0001646
16 abdominal pain typical (50%) HP:0002027
17 renal insufficiency occasional (7.5%) HP:0000083
18 visual impairment occasional (7.5%) HP:0000505
19 ptosis occasional (7.5%) HP:0000508
20 nystagmus occasional (7.5%) HP:0000639
21 skin rash occasional (7.5%) HP:0000988
22 hyperreflexia occasional (7.5%) HP:0001347
23 congestive heart failure occasional (7.5%) HP:0001635
24 abnormality of the pericardium occasional (7.5%) HP:0001697
25 anemia occasional (7.5%) HP:0001903
26 nausea and vomiting occasional (7.5%) HP:0002017
27 respiratory insufficiency occasional (7.5%) HP:0002093
28 abnormality of the pleura occasional (7.5%) HP:0002103
29 neurological speech impairment occasional (7.5%) HP:0002167
30 pulmonary fibrosis occasional (7.5%) HP:0002206
31 incoordination occasional (7.5%) HP:0002311
32 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
33 aseptic necrosis occasional (7.5%) HP:0010885
34 abnormality of immune system physiology occasional (7.5%) HP:0010978

Drugs & Therapeutics for Erdheim-Chester Disease

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Drugs for Erdheim-Chester Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LenalidomideapprovedPhase 2652191732-72-6216326
Synonyms:
1-oxo-2-(2,6-Dioxopiperidin-3-yl)-4-aminoisoindoline
191732-72-6
3-(4-Amino-1-oxo-1,3-dihydro-2H-isoindol-2-yl)piperidine-2,6-dione
3-(4-Amino-1-oxoisoindolin-2-yl)piperidine-2,6-dione
3-(7-Amino-3-oxo-1H-isoindol-2-yl)-piperidine-2,6-dione
3-(7-amino-3-oxo-1H-isoindol-2-yl)piperidine-2,6-dione
346670-73-3
443912-14-9
AC-914
AC1L50II
AKOS005146276
ALBB-015321
Bio-0168
C467567
CC 5013
CC-5013
CC-5013, Revlimid, Lenalidomide
CC5013
CDC 501
CDC-501
CDC-5013
CHEMBL848
CID216326
Celgene brand of lenalidomide
 
D04687
DB00480
EC-000.2340
ENMD-0997
I06-0831
IMID-1
IMID-5013
IMiD3
IMiD3 cpd
IMid-1
LS-184040
Lenalidomide
Lenalidomide (USAN/INN)
Lenalidomide [USAN]
MolPort-003-848-370
NCGC00167491-01
NSC747972
Revamid
Revimid
Revlimid
Revlimid (Celgene)
Revlimid (TN)
S1029_Selleck
STK639603
Thalidomide analog CC-5013
UNII-F0P408N6V4
2
DabrafenibapprovedPhase 26544462760, 44516822
Synonyms:
BRAF inhibitor GSK2118436
Dabrafenib
Dabrafenib Mesylate
 
GSK2118436
GSK2118436a
Tafinlar
dabrafenib
3
TrametinibapprovedPhase 2103871700-17-311707110
Synonyms:
GSK 1120212
GSK1120212
JTP 74057
JTP-74057
 
MEK Inhibitor GSK1120212
Mekinist
Trametinib Dimethyl Sulfoxide
Trametinibum
trametinib
4
Dimethyl sulfoxideapprovedPhase 22867-68-5679
Synonyms:
(CH3)2SO
(methylsulfinyl)methane
DMSO
Dimethyl sulfoxide
Dimethyl sulfoxixde
Dimethyl sulfur oxide
Dimethyl sulphoxide
 
Dimethyl sulpoxide
Dimethyli sulfoxidum
Dimethylsulfoxid
Dimethylsulfoxyde
Dimetil sulfoxido
Methylsulfinylmethane
Rimso-50
S(O)Me2
Sulfinylbis(methane)
5
Cholineapproved, nutraceutical12262-49-7305
Synonyms:
(2-Hydroxyethyl)trimethyl ammonium
(2-Hydroxyethyl)trimethylammonium
(beta-hydroxyethyl)trimethylammonium
2-Hydroxy-N,N,N-trimethyl-ethanaminium
2-Hydroxy-N,N,N-trimethylethanaminium
Bilineurine
Biocolina
Biocoline
Choline
Choline cation
 
Choline ion
Cholinum
Hepacholine
Hormocline
Lipotril
N,N,N-Trimethylethanol-ammonium
N,N,N-Trimethylethanolammonium
N,N,N-trimethylethanol-ammonium
N-trimethylethanolamine
Neocolina
Paresan
trimethylethanolamine

Interventional clinical trials:

idNameStatusNCT IDPhase
1Dabrafenib and Trametinib in People With BRAF V600E Mutation Positive Lesions in Erdheim Chester DiseaseRecruitingNCT02281760Phase 2
2A Study of Lenalidomide for Adult Histiocyte DisordersRecruitingNCT02523040Phase 2
3Pilot Study of Tocilizumab in Patients With Erdheim-Chester DiseaseTerminatedNCT01727206Phase 2
4Long-term Outcome After Vemurafenib / BRAF Inhibitors Interruption in Erdheim-chester DiseaseRecruitingNCT02089724
5Clinical and Basic Investigations Into Erdheim Chester DiseaseRecruitingNCT01417520
6Biomarker for Farber DiseaseRecruitingNCT02298634
7Uptake and Biodistribution of 18F-fluorocholine in Histiocytic Disorders by PET Imaging and Biopsy MeasurementRecruitingNCT02608619
8International Rare Histiocytic Disorders Registry (IRHDR)RecruitingNCT02285582

Search NIH Clinical Center for Erdheim-Chester Disease


Cochrane evidence based reviews: Erdheim-Chester Disease

Genetic Tests for Erdheim-Chester Disease

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Anatomical Context for Erdheim-Chester Disease

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MalaCards organs/tissues related to Erdheim-Chester Disease:

33
Bone, Lung, Skin, Brain, Pituitary, Kidney, Cerebellum

Animal Models for Erdheim-Chester Disease or affiliated genes

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MGI Mouse Phenotypes related to Erdheim-Chester Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.2BRAF, CCL2, NRAS, PIK3CA
2MP:00053877.2BRAF, CCL2, CCR3, CCR6, NRAS, PIK3CA
3MP:00053766.9BRAF, CCL2, CCR3, CCR6, NRAS, PIK3CA

Publications for Erdheim-Chester Disease

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Articles related to Erdheim-Chester Disease:

(show top 50)    (show all 372)
idTitleAuthorsYear
1
Endocrine manifestations in a monocentric cohort of 64 patients with Erdheim-Chester disease. (26565949)
2015
2
Erdheim-Chester disease involving the breast--a rare but important differential diagnosis. (25454479)
2015
3
Coexistence of intracranial Langerhans cell histiocytosis and Erdheim-Chester disease in a pediatric patient: a case report. (26466952)
2015
4
Orbital MRI Pre- and Post-Vemurafenib Therapy for Erdheim-Chester Disease. (25886699)
2015
5
High-dose methotrexate for the treatment of relapsed central nervous system erdheim-chester disease. (25031876)
2014
6
Erdheim-Chester disease and knee pain in a dialysis patient. (25852919)
2014
7
Constrictive pericarditis in Erdheim-Chester disease: an integrated echocardiographic and magnetic resonance approach. (24768396)
2014
8
Gastrointestinal Erdheim-Chester disease. (24908861)
2014
9
Thoracic, abdominal and musculoskeletal involvement in Erdheim-Chester disease: CT, MR and PET imaging findings. (25017251)
2014
10
BRAF V600E mutations in urine and plasma cell-free DNA from patients with Erdheim-Chester disease. (25003820)
2014
11
Association of both Langerhans cell histiocytosis and Erdheim-Chester disease linked to the BRAFV600E mutation. (24894769)
2014
12
Erdheim-Chester disease and Schnitzler syndrome: so near, and yet so far. (24046179)
2013
13
Erdheim-Chester disease: an uncommon cause of upper urinary tract obstruction. (24088590)
2013
14
Erdheim-Chester Disease With Prominent Pericardial Effusion: Cytologic Findings and Review of the Literature. (23447119)
2013
15
Hand-SchA1ller-Christian disease and Erdheim-Chester disease: coexistence and discrepancy. (23299772)
2013
16
Paroxysmal exertion-induced dystonia secondary to Erdheim-Chester disease. (22980524)
2013
17
Erdheim-Chester disease. (23597965)
2013
18
Postoperative cardiac homograft involvement in Erdheim-Chester disease. (22808847)
2012
19
Histiocytosis for the neurologist: a case of Erdheim-Chester disease. (22976062)
2012
20
Pericardial effusion as a crucial presentation of Erdheim-Chester disease in a hemodialysis patient: an overlooked diagnosis. (22732342)
2012
21
Reply to commentary on "a case of erdheim-chester disease with asymptomatic renal involvement". (23341795)
2012
22
Erdheim-Chester disease with extensive coronary arterial involvement. (21566495)
2011
23
Erdheim-Chester disease: multisystem involvement and management with interferon-alpha. (19679354)
2010
24
Pulmonary involvement in Erdheim-Chester disease: a single-center study of thirty-four patients and a review of the literature. (20662053)
2010
25
A case of osteoarthropathy due to Erdheim-Chester disease with overlapping Langerhans' cell infiltration. (20558949)
2010
26
Non-Langerhans cell histiocytosis with isolated CNS involvement: an unusual variant of Erdheim-Chester disease. (20337948)
2010
27
Polyostotic sclerosing histiocytosis (Erdheim-Chester disease) treated with combined vertebroplasty and radiation therapy. (20968148)
2010
28
18F-fluorodeoxyglucose-positron emission tomography scanning is more useful in followup than in the initial assessment of patients with Erdheim-Chester disease. (19790052)
2009
29
A rare histiocytosis with severe cardiac involvement: Erdheim-Chester disease. (18717219)
2008
30
Unmasked diabetes insipidus after pericardial drainage and biopsy for pericardial effusion in association with Erdheim-Chester disease. (18603080)
2008
31
Intracranial lesion of Erdheim-Chester disease. (17509397)
2007
32
Tc-99m MDP bone scintigraphy and positron emission tomography/computed tomography (PET/CT) imaging in Erdheim-Chester disease. (17179801)
2007
33
Radiotherapy for Erdheim-Chester disease. (17566851)
2007
34
Laparoscopic biopsy and ureterolysis in Erdheim-Chester disease. (15819294)
2005
35
Diagnosis of Erdheim-Chester disease by using computerized tomography-guided stereotactic biopsy of a caudate lesion. Case report. (15352612)
2004
36
Erdheim-Chester disease mimicking a primary brain tumor. Case report. (15200134)
2004
37
Images in neuroscience: question. Erdheim-Chester disease. (14975419)
2004
38
Images in cardiovascular medicine. High resolution images obtained with ultrasound and magnetic resonance imaging of pericarotid fibrosis in Erdheim-Chester disease. (15477423)
2004
39
Erdheim-Chester disease. (12869045)
2003
40
Erdheim-Chester disease with early onset atherosclerosis and a pseudo-malignant phase. (12594120)
2003
41
Failure of radiation therapy for brain involvement in Erdheim Chester disease. (12241111)
2002
42
Interferon therapy for orbital infiltration secondary to Erdheim-Chester disease. (11730673)
2001
43
Two enlarged kidneys: a manifestation of Erdheim-Chester disease. (11509804)
2001
44
Pulmonary involvement with Erdheim-Chester disease: radiographic and CT findings. (10789787)
2000
45
Erdheim-Chester disease with intramuscular lipogranuloma. (10855472)
2000
46
Erdheim-Chester disease: radiographic findings in five patients. (9554002)
1998
47
Erdheim-Chester disease: a case report with immunohistochemical and biochemical examination. (8543320)
1996
48
Erdheim-Chester disease with epiphyseal and systemic disease. (8320335)
1993
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

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Expression for genes affiliated with Erdheim-Chester Disease

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

Pathways for genes affiliated with Erdheim-Chester Disease

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Pathways related to Erdheim-Chester Disease according to GeneCards Suite gene sharing:

(show all 33)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7BRAF, NRAS
29.7BRAF, NRAS
39.7BRAF, NRAS
4
Show member pathways
9.7BRAF, NRAS
59.7BRAF, NRAS
69.7BRAF, NRAS
79.5CCL2, SERPINA3
89.3BRAF, PIK3CA
99.3BRAF, PIK3CA
109.3BRAF, PIK3CA
119.3BRAF, PIK3CA
129.3BRAF, PIK3CA
13
Show member pathways
9.2BRAF, CCL2, NRAS
14
Show member pathways
8.9BRAF, NRAS, PIK3CA
15
Show member pathways
8.9BRAF, NRAS, PIK3CA
168.9BRAF, NRAS, PIK3CA
178.9BRAF, NRAS, PIK3CA
18
Show member pathways
8.9BRAF, NRAS, PIK3CA
19
Show member pathways
8.9BRAF, NRAS, PIK3CA
20
VEGF Pathway (Tocris)
Show member pathways
8.9BRAF, NRAS, PIK3CA
21
Show member pathways
8.9BRAF, NRAS, PIK3CA
22
Show member pathways
8.9BRAF, NRAS, PIK3CA
238.9BRAF, NRAS, PIK3CA
24
Show member pathways
8.9BRAF, NRAS, PIK3CA
25
Show member pathways
8.9BRAF, NRAS, PIK3CA
26
Show member pathways
8.9BRAF, NRAS, PIK3CA
27
Show member pathways
8.9BRAF, NRAS, PIK3CA
28
Show member pathways
8.8CCL2, CCR3, CCR6
29
Show member pathways
8.8BRAF, CCL2, PIK3CA
308.6CCR3, NRAS, PIK3CA
31
Show member pathways
8.0BRAF, CCL2, CCR3, CCR6, NRAS
32
Show member pathways
8.0BRAF, CCL2, CCR3, CCR6, NRAS
33
Show member pathways
7.2BRAF, CCL2, CCR3, CCR6, NRAS, PIK3CA

GO Terms for genes affiliated with Erdheim-Chester Disease

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Biological processes related to Erdheim-Chester Disease according to GeneCards Suite gene sharing:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1humoral immune responseGO:000695910.0CCL2, CCR6
2cellular response to drugGO:003569010.0BRAF, CCL2
3positive regulation of endothelial cell proliferationGO:00019389.8CCL2, CCR3
4cellular defense responseGO:00069689.8CCR3, CCR6
5protein kinase B signalingGO:00434919.7CCL2, PIK3CA
6MAPK cascadeGO:00001659.4BRAF, CCL2, NRAS
7chemokine-mediated signaling pathwayGO:00700989.2CCL2, CCR3, CCR6
8chemotaxisGO:00069359.2CCL2, CCR3, CCR6
9negative regulation of neuron apoptotic processGO:00435249.2BRAF, CCL2, PIK3CA
10cell chemotaxisGO:00603269.1CCL2, PIK3CA
11insulin receptor signaling pathwayGO:00082869.1BRAF, NRAS, PIK3CA
12fibroblast growth factor receptor signaling pathwayGO:00085439.1BRAF, NRAS, PIK3CA
13Fc-epsilon receptor signaling pathwayGO:00380959.0BRAF, NRAS, PIK3CA
14neurotrophin TRK receptor signaling pathwayGO:00480118.9BRAF, NRAS, PIK3CA
15epidermal growth factor receptor signaling pathwayGO:00071738.8BRAF, NRAS, PIK3CA
16inflammatory responseGO:00069548.5CCL2, CCR3, PIK3CA, SERPINA3
17vascular endothelial growth factor receptor signaling pathwayGO:00480108.3BRAF, CCL2, NRAS, PIK3CA
18innate immune responseGO:00450878.0BRAF, CCR6, NRAS, PIK3CA

Molecular functions related to Erdheim-Chester Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chemokine receptor activityGO:00049509.3CCR3, CCR6
2C-C chemokine receptor activityGO:00164939.2CCR3, CCR6

Sources for Erdheim-Chester Disease

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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