MCID: ERD001
MIFTS: 52

Erdheim-Chester Disease malady

Categories: Rare diseases, Bone diseases, Skin diseases, Immune diseases

Aliases & Classifications for Erdheim-Chester Disease

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Sources:
45NIH Rare Diseases, 10Disease Ontology, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 36MeSH, 65UMLS, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Erdheim-Chester Disease:

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

Characteristics:

Orphanet epidemiological data:

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

Classifications:



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
UMLS65 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 renal oncocytoma and lipogranulomatosis, and has symptoms including abnormality of the genital system, proptosis and diabetes insipidus. An important gene associated with Erdheim-Chester Disease is NRAS (Neuroblastoma RAS Viral Oncogene Homolog), and among its related pathways are Vemurafenib Pathway, Pharmacodynamics and Thyroid cancer. Affiliated tissues include bone, lung and skin, and related mouse phenotypes are tumorigenesis and cardiovascular 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.

Wikipedia:68 Erdheim–Chester disease (also known as Erdheim–Chester syndrome or polyostotic sclerosing... more...

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 33)
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

Drugs & Therapeutics for Erdheim-Chester Disease

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

(show all 15)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
TrametinibapprovedPhase 2111871700-17-311707110
Synonyms:
GSK 1120212
GSK1120212
JTP 74057
JTP-74057
 
MEK Inhibitor GSK1120212
Mekinist
Trametinib Dimethyl Sulfoxide
Trametinibum
trametinib
2
Dimethyl sulfoxideapprovedPhase 22967-68-5679
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)
3
LenalidomideapprovedPhase 2674191732-72-6216326
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
lenalidomide
4
DabrafenibapprovedPhase 27044462760, 44516822
Synonyms:
BRAF inhibitor GSK2118436
Dabrafenib
Dabrafenib Mesylate
 
GSK2118436
GSK2118436a
Tafinlar
dabrafenib
5Anti-Infective AgentsPhase 217220
6Immunologic FactorsPhase 218483
7Immunosuppressive AgentsPhase 210422
8Anti-Bacterial AgentsPhase 29140
9Angiogenesis InhibitorsPhase 23688
10MitogensPhase 21386
11Protective AgentsPhase 25651
12Protein Kinase InhibitorsPhase 23162
13Angiogenesis Modulating AgentsPhase 23611
14AntioxidantsPhase 22442
15
Cholineapproved, nutraceutical13062-49-7305
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, Bone marrow, Kidney

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:00020068.9BRAF, CCR5, NRAS, PIK3CA
2MP:00053857.8BRAF, CCR5, NRAS, PIK3CA, PRKG1
3MP:00053847.4BRAF, CCR3, CCR5, NRAS, PIK3CA, PRKG1
4MP:00053876.4BRAF, CCL2, CCR3, CCR5, NRAS, PIK3CA

Publications for Erdheim-Chester Disease

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Articles related to Erdheim-Chester Disease:

(show top 50)    (show all 377)
idTitleAuthorsYear
1
Metastatic Breast Cancer to the Common Bile Duct Presenting as Obstructive Jaundice. (26351417)
2015
2
Reduction of serum TARC levels in atopic dermatitis by topical anti-inflammatory treatments. (25268342)
2014
3
Massive withdrawal symptoms and affective vulnerability are associated with variants of the CHRNA4 gene in a subgroup of smokers. (24498031)
2014
4
Distribution of Candida species among HIV-positive patients with oropharyngeal candidiasis in Accra, Ghana. (23324819)
2013
5
Nonablative fractional laser resurfacing for the treatment of hypertrophic scars: a randomized controlled trial. (23279702)
2013
6
EVI1 targets platelet endothelial cell adhesion molecule and up-regulates its expression in chronic myeloid leukemia. (23772643)
2013
7
ATM- and ATR-mediated phosphorylation of XRCC3 regulates DNA double-strand break-induced checkpoint activation and repair. (23438602)
2013
8
Long-term results of brachytherapy in early mobile tongue cancer with 10-year minimal follow-up. (23267163)
2013
9
Interleukin-6 gene polymorphism (-174 G/C) is associated with toxoplasmic retinochoroiditis. (23336844)
2013
10
Factor VIII:C levels in pregnancies complicated by pre-eclampsia and intrauterine growth restriction. (22189067)
2012
11
The effects of atorvastatin on C-reactive protein induced Toll-like receptor 4 expression on CD14+ monocyte]. (22088250)
2011
12
Effects of caffeic acid phenethyl ester (CAPE) on hepatopulmonary syndrome. (21046212)
2011
13
EGFR signaling regulates tumor cell migration in craniopharyngiomas. (21562037)
2011
14
A rare and undesirable complication of heparin-induced thrombocytopenia: acute massive pulmonary embolism. (20699250)
2011
15
Upregulation of circulating PD-L1/PD-1 is associated with poor post-cryoablation prognosis in patients with HBV-related hepatocellular carcinoma. (21912640)
2011
16
Clinical results of treating type 2 diabetic patients with sitagliptin, vildagliptin or saxagliptin--diabetes control and potential adverse events. (19748066)
2009
17
The NMDA Receptor and Alcohol Addiction (21204417)
2009
18
Role of AIB1 for tamoxifen resistance in estrogen receptor-positive breast cancer cells. (18827493)
2008
19
Role of serotonin and dopamine receptor binding in antipsychotic efficacy. (18772032)
2008
20
Hyponatremia in marathon runners due to inappropriate arginine vasopressin secretion. (17466660)
2007
21
Expression, characterization and biological activity analysis of recombinant human bone morphogenetic protein 2 in CHO cells]. (17168321)
2006
22
Confluent and reticulated papillomatosis and acanthosis nigricans in an obese girl: two distinct pathologies with a common pathogenetic pathway or a unique entity dependent on insulin resistance? (16643163)
2006
23
A cellular metalloproteinase activates Vibrio cholerae pro-cytolysin. (15066987)
2004
24
Cathepsin D, but not cathepsin E, degrades desmosomes during epidermal desquamation. (15327542)
2004
25
Anterior horn cell involvement in myelitis with atopic diathesis (atopic myelitis). (15101198)
2004
26
Treatment of murine hepatocellular carcinoma using genetically modified cells to express interleukin-12. (15012775)
2004
27
Expression and significance of Rap1A in testes of azoospermic subjects. (15064832)
2004
28
Serum markers for early detection and staging of prostate cancer. Status report on current and future markers]. (14504750)
2003
29
Kinetic peculiarities of human tissue kallikrein: 1--substrate activation in the catalyzed hydrolysis of H-D-valyl-L-leucyl-L-arginine 4-nitroanilide and H-D-valyl-L-leucyl-L-lysine 4-nitroanilide; 2--substrate inhibition in the catalyzed hydrolysis of N alpha-p-tosyl-L-arginine methyl ester. (11913965)
2002
30
Oxidative stress and antioxidants in epilepsy. (11163018)
2001
31
Characterization of contractile P2 receptors in human coronary arteries by use of the stable pyrimidines uridine 5'-O-thiodiphosphate and uridine 5'-O-3-thiotriphosphate. (10869373)
2000
32
Characterization of multiple isoforms of protein 4.1R expressed during erythroid terminal differentiation. (9834247)
1998
33
No major role for the CTLA-4 gene in the association of autoimmune thyroid disease with IDDM. (9421385)
1998
34
Small mechanical strains selectively suppress matrix metalloproteinase-1 expression by human vascular smooth muscle cells. (9497391)
1998
35
A new clinical entity mimicking meningioma diagnosed pathologically as rosai-dorfman disease. (17171057)
1998
36
c-erbB-2 protein is expressed in hepatolithiasis and cholangiocarcinoma. (9822921)
1998
37
Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt. (8682503)
1996
38
The relationship between hyperthyroidism and the distribution of peripheral blood T, NK and B-lymphocytes in multinodular goiter. (8200612)
1994
39
Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]. (8028668)
1994
40
Effect of peripheral catechol-O-methyltransferase inhibition on the pharmacokinetics and pharmacodynamics of levodopa in parkinsonian patients. (8190296)
1994
41
Clinicopathological and immunophenotypic studies on 12 cases with B cell chronic lymphocytic leukemia. (7834079)
1994
42
Identification and characterization of binding proteins for inhibin and activin in human serum and follicular fluids. (7678220)
1993
43
Hormonal profile and changes in platelet aggregation in menstrual migraine]. (2100130)
1990
44
Dysmorphic penis image perception: the root of Koro vulnerability. A longitudinal study. (2688365)
1989
45
Toxic epidermal necrolysis (Lyell syndrome). A case report. (6192286)
1983
46
Ciguatera fish poisoning: a major common-source outbreak in the U.S. Virgin Islands. (6830078)
1983
47
Anomalous pulmonary venous drainage of right lung to inferior vena cava ("scimitar syndrome"): clinical spectrum in older patients and role of surgery. (339257)
1977
48
Epidemiological and serological study of scrub typhus among Chinese military in the Pescadores islands of Taiwan. (413217)
1977
49
Chondromalacia and the unstable patella. (1180030)
1975
50
Malabsorption of hemoglobin iron in pernicious anemia: correction with intrinsic factor--containing substances. (5666112)
1968

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 40)
idSuper pathwaysScoreTop Affiliating Genes
19.5BRAF, NRAS
29.5BRAF, NRAS
39.5BRAF, NRAS
4
Show member pathways
9.5BRAF, NRAS
59.5BRAF, NRAS
69.4BRAF, PIK3CA
79.4BRAF, PIK3CA
89.4BRAF, PIK3CA
99.4BRAF, PIK3CA
109.4BRAF, PIK3CA
119.2CCL2, NRAS, PIK3CA
12
Show member pathways
9.2CCL2, NRAS, PIK3CA
13
Show member pathways
9.1BRAF, NRAS, PIK3CA
14
Show member pathways
9.1BRAF, NRAS, PIK3CA
15
Show member pathways
9.1BRAF, NRAS, PIK3CA
16
Show member pathways
9.1BRAF, NRAS, PIK3CA
17
Show member pathways
9.1BRAF, NRAS, PIK3CA
18
Show member pathways
9.1BRAF, NRAS, PIK3CA
19
Show member pathways
9.1BRAF, NRAS, PIK3CA
209.1BRAF, NRAS, PIK3CA
21
Show member pathways
9.1BRAF, NRAS, PIK3CA
22
Show member pathways
9.1BRAF, NRAS, PIK3CA
23
Show member pathways
9.1BRAF, NRAS, PIK3CA
249.1BRAF, NRAS, PIK3CA
25
Show member pathways
9.0BRAF, CCL2, NRAS
26
Show member pathways
9.0BRAF, CCL2, PIK3CA
27
Show member pathways
9.0CCL2, CCR3, CCR5
28
Show member pathways
9.0BRAF, CCR5, NRAS
29
Show member pathways
8.9NRAS, PIK3CA, PRKG1
308.7BRAF, NRAS, PRKG1
31
Show member pathways
8.7BRAF, NRAS, PRKG1
328.6CCR3, CCR5, NRAS, PIK3CA
33
Show member pathways
8.2BRAF, NRAS, PIK3CA, PRKG1
34
Show member pathways
8.2BRAF, NRAS, PIK3CA, PRKG1
35
Show member pathways
8.2BRAF, NRAS, PIK3CA, PRKG1
36
Show member pathways
8.0BRAF, CCL2, CCR3, CCR5, NRAS
37
Show member pathways
8.0BRAF, CCL2, CCR3, CCR5, NRAS
38
Show member pathways
7.8BRAF, CCL2, NRAS, PIK3CA, PRKG1
39
Show member pathways
7.6BRAF, CCL2, CCR3, CCR5, NRAS, PIK3CA
40
Show member pathways
6.7BRAF, CCL2, CCR3, CCR5, 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 11)
idNameGO IDScoreTop Affiliating Genes
1ERBB2 signaling pathwayGO:003812810.2NRAS, PIK3CA
2positive regulation of endothelial cell proliferationGO:000193810.0CCL2, CCR3
3cellular response to drugGO:00356909.9BRAF, CCL2
4organ morphogenesisGO:00098879.8BRAF, CCL2
5fibroblast growth factor receptor signaling pathwayGO:00085439.5BRAF, NRAS, PIK3CA
6MAPK cascadeGO:00001659.4CCL2, CCR5, NRAS
7vascular endothelial growth factor receptor signaling pathwayGO:00480109.2BRAF, NRAS, PIK3CA
8chemokine-mediated signaling pathwayGO:00700989.2CCL2, CCR3, CCR5
9insulin receptor signaling pathwayGO:00082869.2BRAF, NRAS, PIK3CA
10neurotrophin TRK receptor signaling pathwayGO:00480118.8BRAF, NRAS, PIK3CA
11signal transductionGO:00071658.2BRAF, CCL2, NRAS, PRKG1

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