ECD
MCID: ERD001
MIFTS: 52

Erdheim-Chester Disease (ECD) malady

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

Aliases & Classifications for Erdheim-Chester Disease

Aliases & Descriptions for Erdheim-Chester Disease:

Name: Erdheim-Chester Disease 12 50 25 56 42 14 69
Polyostotic Sclerosing Histiocytosis 25
Erdheim Chester Disease 50
Lipoid Granulomatosis 50
Lipid Granulomatosis 25
Ecd 50

Characteristics:

Orphanet epidemiological data:

56
erdheim-chester disease
Inheritance: Not applicable; Age of onset: Adult; Age of death: any age;

Classifications:



External Ids:

Disease Ontology 12 DOID:4329
MeSH 42 D031249
NCIt 47 C53972
SNOMED-CT 64 699537002 703711007
Orphanet 56 ORPHA35687
UMLS via Orphanet 70 C0878675
ICD10 via Orphanet 34 D76.3
MESH via Orphanet 43 D031249
UMLS 69 C0878675

Summaries for Erdheim-Chester Disease

NIH Rare Diseases : 50 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 lipogranulomatosis and hemifacial atrophy, progressive, and has symptoms including ataxia, fatigue and dyspnea. An important gene associated with Erdheim-Chester Disease is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are Innate Immune System and Integrin Pathway. The drugs Lenalidomide and Dabrafenib have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and brain, and related phenotypes are Decreased viability and immune system

Genetics Home Reference : 25 Erdheim-Chester disease is a rare type of slow-growing blood cancer called a histiocytic neoplasm, which results in overproduction of cells called histiocytes. Histiocytes normally function to destroy foreign substances and protect the body from infection. In Erdheim-Chester disease, the excess production of histiocytes (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 : 71 Erdheim–Chester disease (also known as Erdheim–Chester syndrome or polyostotic sclerosing... more...

Related Diseases for Erdheim-Chester Disease

Diseases related to Erdheim-Chester Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 83)
id Related Disease Score Top Affiliating Genes
1 lipogranulomatosis 11.2
2 hemifacial atrophy, progressive 10.9
3 atrioventricular septal defect 10.8
4 histiocytosis 10.7
5 cerebritis 10.4
6 pericardial effusion 10.3
7 non-langerhans-cell histiocytosis 10.2
8 diabetes insipidus 10.2
9 eosinophilic granuloma 10.2
10 pseudomonas stutzeri infections 10.2 BRAF NRAS
11 rdh12-related leber congenital amaurosis 10.2 BRAF NRAS
12 interstitial lung disease 10.2
13 thyroiditis 10.2
14 lung disease 10.2
15 exophthalmos 10.2
16 acute disseminated encephalomyelitis 10.1 BRAF NRAS
17 melanocytic nevus syndrome, congenital, somatic 10.1 NRAS PIK3CA
18 lung mucoepidermoid carcinoma 10.1 BRAF NRAS
19 urethral cancer 10.1 PIK3CA SERPINA3
20 leukemia 10.1
21 lymphoma 10.1
22 pericarditis 10.1
23 vasculitis 10.1
24 igg4-related disease 10.1
25 ataxia 10.1
26 spongiotic dermatitis 10.1 NRAS PIK3CA
27 uterine disease 10.1 PIK3CA SERPINA3
28 muscular dystrophy-dystroglycanopathy , type a, 10 10.0 BRAF NRAS PIK3CA
29 intestinal benign neoplasm 10.0 PIK3CA SERPINA3
30 peritoneal mesothelioma 9.9 BRAF NRAS PIK3CA
31 alternating exotropia 9.9 CCL2 SERPINA3
32 acute necrotizing encephalitis 9.9 CCL2 PIK3CA
33 hashimoto thyroiditis 9.9
34 cerebellar ataxia 9.9
35 multiple system atrophy 9.9
36 acute lymphocytic leukemia 9.9
37 atherosclerosis 9.9
38 end stage renal failure 9.9
39 hematopoietic stem cell transplantation 9.9
40 hemophagocytic lymphohistiocytosis 9.9
41 hepatitis 9.9
42 thrombocytopenia 9.9
43 familial hemiplegic migraine 9.9
44 thrombosis 9.9
45 lymphoblastic leukemia 9.9
46 portal hypertension 9.9
47 hydronephrosis 9.9
48 rhinoscleroma 9.9
49 choroiditis 9.9
50 constrictive pericarditis 9.9

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



Diseases related to Erdheim-Chester Disease

Symptoms & Phenotypes for Erdheim-Chester Disease

Human phenotypes related to Erdheim-Chester Disease:

56 32 (show all 43)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Occasional (29-5%) HP:0001251
2 fatigue 56 32 Very frequent (99-80%) HP:0012378
3 dyspnea 56 32 Occasional (29-5%) HP:0002094
4 fever 56 32 Very frequent (99-80%) HP:0001945
5 abdominal pain 56 32 Frequent (79-30%) HP:0002027
6 joint swelling 56 32 Frequent (79-30%) HP:0001386
7 nausea and vomiting 56 32 Occasional (29-5%) HP:0002017
8 dysuria 56 32 Very frequent (99-80%) HP:0100518
9 polydipsia 56 32 Very frequent (99-80%) HP:0001959
10 bone pain 56 32 Very frequent (99-80%) HP:0002653
11 abnormality of epiphysis morphology 56 32 Very frequent (99-80%) HP:0005930
12 ptosis 56 32 Occasional (29-5%) HP:0000508
13 nystagmus 56 32 Occasional (29-5%) HP:0000639
14 hyperhidrosis 56 32 Very frequent (99-80%) HP:0000975
15 dysarthria 56 32 Occasional (29-5%) HP:0001260
16 hyperreflexia 56 32 Occasional (29-5%) HP:0001347
17 aseptic necrosis 56 32 Occasional (29-5%) HP:0010885
18 visual impairment 56 32 Occasional (29-5%) HP:0000505
19 renal insufficiency 56 32 Occasional (29-5%) HP:0000083
20 pulmonary fibrosis 56 32 Occasional (29-5%) HP:0002206
21 anemia 56 32 Occasional (29-5%) HP:0001903
22 weight loss 56 32 Very frequent (99-80%) HP:0001824
23 abnormality of the metaphyses 56 32 Very frequent (99-80%) HP:0000944
24 congestive heart failure 56 32 Occasional (29-5%) HP:0001635
25 abnormality of the aortic valve 56 32 Frequent (79-30%) HP:0001646
26 diabetes insipidus 56 32 Very frequent (99-80%) HP:0000873
27 osteomyelitis 56 32 Very frequent (99-80%) HP:0002754
28 skin rash 56 32 Occasional (29-5%) HP:0000988
29 cough 56 32 Occasional (29-5%) HP:0012735
30 increased bone mineral density 56 32 Very frequent (99-80%) HP:0011001
31 proptosis 56 32 Very frequent (99-80%) HP:0000520
32 osteolysis 56 32 Very frequent (99-80%) HP:0002797
33 hydronephrosis 56 32 Frequent (79-30%) HP:0000126
34 pleural effusion 56 32 Occasional (29-5%) HP:0002202
35 xanthelasma 56 32 Very frequent (99-80%) HP:0001114
36 abnormality of the pericardium 56 32 Occasional (29-5%) HP:0001697
37 retroperitoneal fibrosis 56 32 Frequent (79-30%) HP:0005200
38 hypogonadotrophic hypogonadism 32 HP:0000044
39 abnormality of immune system physiology 56 Occasional (29-5%)
40 abnormality of the cerebellum 56 Occasional (29-5%)
41 interstitial pulmonary disease 56 Occasional (29-5%)
42 low gonadotropins (secondary hypogonadism) 56 Very frequent (99-80%)
43 interstitial pulmonary abnormality 32 HP:0006530

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.74 PIK3CA BRAF
2 Decreased viability GR00221-A-1 9.74 PRKG1 CCL2 NRAS PIK3CA
3 Decreased viability GR00221-A-2 9.74 PRKG1 PIK3CA
4 Decreased viability GR00221-A-3 9.74 NRAS
5 Decreased viability GR00221-A-4 9.74 PRKG1 CCL2 PIK3CA BRAF
6 Decreased viability GR00301-A 9.74 PRKG1 BRAF
7 Decreased viability GR00381-A-1 9.74 BRAF

MGI Mouse Phenotypes related to Erdheim-Chester Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.1 BRAF CCL2 CCR3 NRAS PIK3CA PRKG1

Drugs & Therapeutics for Erdheim-Chester Disease

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

(show all 19)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenalidomide Approved Phase 2 191732-72-6 216326
2
Dabrafenib Approved Phase 2 44462760 44516822
3
Trametinib Approved Phase 2 871700-17-3 11707110
4
Dimethyl sulfoxide Approved, Vet_approved Phase 2 67-68-5 679
5 Angiogenesis Inhibitors Phase 2
6 Angiogenesis Modulating Agents Phase 2
7 Anti-Bacterial Agents Phase 2
8 Anti-Infective Agents Phase 2
9 Immunosuppressive Agents Phase 2
10 Mitogens Phase 2
11 Protective Agents Phase 2
12 Protein Kinase Inhibitors Phase 2
13 Antioxidants Phase 2
14
Choline Approved, Nutraceutical 62-49-7 305
15 Gastrointestinal Agents
16 Nootropic Agents
17 Hypolipidemic Agents
18 Lipid Regulating Agents
19 Antimetabolites

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Study of Lenalidomide for Adult Histiocyte Disorders Recruiting NCT02523040 Phase 2
2 Dabrafenib and Trametinib in People With BRAF V600E Mutation Positive Lesions in Erdheim Chester Disease Suspended NCT02281760 Phase 2
3 Pilot Study of Tocilizumab in Patients With Erdheim-Chester Disease Terminated NCT01727206 Phase 2
4 Long-term Outcome After Vemurafenib / BRAF Inhibitors Interruption in Erdheim-chester Disease Recruiting NCT02089724
5 Clinical and Basic Investigations Into Erdheim Chester Disease Recruiting NCT01417520
6 A Study of Memory, Thinking, and Brain Imaging in Adults With Histiocytosis Recruiting NCT03127709
7 Biomarker for Farber Disease Recruiting NCT02298634
8 Uptake and Biodistribution of 18F-fluorocholine in Histiocytic Disorders by PET Imaging and Biopsy Measurement Recruiting NCT02608619
9 International Rare Histiocytic Disorders Registry (IRHDR) Recruiting NCT02285582

Search NIH Clinical Center for Erdheim-Chester Disease

Cochrane evidence based reviews: erdheim-chester disease

Genetic Tests for Erdheim-Chester Disease

Anatomical Context for Erdheim-Chester Disease

MalaCards organs/tissues related to Erdheim-Chester Disease:

39
Bone, Skin, Brain, Lung, Pituitary, Bone Marrow, Breast

Publications for Erdheim-Chester Disease

Articles related to Erdheim-Chester Disease:

(show top 50) (show all 445)
id Title Authors Year
1
A rare case of Erdheim-Chester disease in the breast. ( 28151461 )
2017
2
18F-FDG PET/CT in Erdheim-Chester disease. ( 28364162 )
2017
3
Effective BRAF inhibitor vemurafenib therapy in a 2-year-old patient with sequentially diagnosed Langerhans cell histiocytosis and Erdheim-Chester disease. ( 28182116 )
2017
4
Vemurafenib (BRAF Inhibitor) Therapy for Orbital Erdheim-Chester Disease. ( 28099231 )
2017
5
Hematopoietic origin of Langerhans cell histiocytosis and Erdheim Chester disease in adults. ( 28512190 )
2017
6
Pediatric Erdheim-Chester disease with aggressive skin manifestations. ( 28078666 )
2017
7
Erdheim-Chester disease, moving away from the orphan diseases: A case report. ( 27995058 )
2017
8
Neurological manifestation of Erdheim Chester disease: A series of 3 patients. ( 28290409 )
2017
9
Combination of adalimumab with lower dose of methylprednisolone in Erdheim-Chester disease with systemic involvement. ( 28080175 )
2017
10
The Imaging Findings of Erdheim-Chester Disease: A Multimodality Approach to Diagnosis and Staging. ( 28217025 )
2017
11
A cytologic diagnosis of BRAF(V600E) Erdheim-Chester disease on pericardial fluid. ( 28222655 )
2017
12
Three Cases of Erdheim-Chester Disease With Intraocular Manifestations: Imaging and Histopathology Findings of a Rare Entity. ( 28153505 )
2017
13
Erdheim-Chester disease with isolated skeletal involvement in patient with odontalgia. ( 28473220 )
2017
14
Erdheim-Chester disease associated with a novel, complex BRAF p.Thr599_Val600delinsArgGlu mutation. ( 28455460 )
2017
15
Erdheim-Chester disease with unusual clinicopathological features complicated by DRESS syndrome, disseminated Cytomegalovirus infection and hemophagocytic lymphohistiocytosis. ( 28418177 )
2017
16
Clinical and Radiologic Responses to Cladribine for the Treatment of Erdheim-Chester Disease. ( 28253394 )
2017
17
An unusual thoracic localizations of Erdheim- Chester disease: A case report. ( 28149747 )
2017
18
Erdheim-Chester Disease with Emperipolesis: A Unique Case Involving the Heart. ( 27488869 )
2016
19
Erdheim-Chester Disease: A Rare Presentation of a Rare Disease. ( 27606325 )
2016
20
Histopathological and Clinical Findings in Cutaneous Manifestation of Erdheim-Chester Disease and Langerhans Cell Histiocytosis Overlap Syndrome Associated With the BRAFV600E Mutation. ( 27898473 )
2016
21
Diverse cutaneous manifestations of Erdheim-Chester disease in a woman with a history of Langerhans cell histiocytosis. ( 27051852 )
2016
22
Erdheim-Chester disease (ECD): Case report, clinical and basic investigations, and review of literature. ( 27759649 )
2016
23
Anakinra as efficacious therapy for two cases of intracranial Erdheim-Chester disease. ( 27535996 )
2016
24
Efficacy of zoledronic acid in Erdheim-Chester disease: A case report. ( 26987264 )
2016
25
Successful treatment with cladribine of Erdheim-Chester disease with orbital and central nervous system involvement developing after treatment of Langerhans cell histiocytosis. ( 26964390 )
2016
26
The First Reported Case of Erdheim-Chester Disease in Egypt with Bilateral Exophthalmos, Loss of Vision, and Multi-Organ Involvement in a Young Woman. ( 27237445 )
2016
27
Unusual presentation of Erdheim-Chester disease in a child with acute lymphoblastic leukemia. ( 27648170 )
2016
28
Erdheim-Chester Disease Presenting as a Solid Renal Mass. ( 27793652 )
2016
29
Efficacy of the MEK inhibitor cobimetinib for wild-type BRAF Erdheim-Chester disease. ( 27711968 )
2016
30
Variability in the efficacy of the IL1 receptor antagonist anakinra for treating Erdheim-Chester disease. ( 26847247 )
2016
31
Erdheim-Chester Disease: An Unusual Cause of Intracranial Vasculitis and Progressive Leukoencephalopathy. ( 26996751 )
2016
32
BRAF Mutations in Erdheim-Chester Disease. ( 26617365 )
2016
33
Multisystem Radiologic Manifestations of Erdheim-Chester Disease. ( 27340583 )
2016
34
Cutaneous manifestations of Erdheim-Chester disease (ECD): Clinical, pathological, and molecular features in a monocentric series of 40 patients. ( 26785805 )
2016
35
Evaluation of clinicopathologic characteristics and the BRAF V600E mutation in Erdheim-Chester disease among Chinese adults. ( 26858028 )
2016
36
Erdheim-Chester Disease With Multiorgan Involvement, Following Polycythemia Vera: A Case Report. ( 27196481 )
2016
37
Erdheim-Chester disease and radiobiphosphonates bone scan: from a simple peripheral form to a rare axial location: A case report. ( 28051224 )
2016
38
Erdheim-Chester Disease as a Mimic of IgG4-Related Disease: A Case Report and a Review of a Single-Center Cohort. ( 27227923 )
2016
39
A rare case of Erdheim-Chester disease. ( 27252327 )
2016
40
Bone scintigraphy as cornerstone in the diagnosis of Erdheim-Chester disease. ( 26750553 )
2016
41
Erdheim-Chester disease: 25-year history with early CNS involvement. ( 27702933 )
2016
42
Comparative Study of Clinical, Pathological, Radiological, and Genetic Features of Patients with Adult Ocular Adnexal Xanthogranulomatous Disease, Erdheim-Chester Disease, and IgG4-Related Disease of the Orbit/Ocular Adnexa. ( 26882062 )
2016
43
Erdheim-Chester disease with orbital involvement: Case report and ophthalmic literature review. ( 27322549 )
2016
44
Superior efficacy and tolerance of reduced doses of vemurafenib plus anakinra in Erdheim-Chester disease: Towards the paradigm of combined targeting and immune therapies. ( 27031008 )
2016
45
A Case of Incidentally-diagnosed Erdheim-Chester Disease. ( 27752407 )
2016
46
Erdheim-Chester Disease With Cardiovascular Involvement and BRAF V600E Mutation. ( 27296272 )
2016
47
Erdheim-Chester Disease Presenting With Intractable Exophthalmos and Bone Lesions. ( 27865309 )
2016
48
Erdheim-Chester disease with vascular involvement mimics large vessel vasculitis. ( 27234207 )
2016
49
Erdheim-Chester disease with novel gene mutations discovered as an incidental finding in explanted liver of a patient with hepatitis C cirrhosis: A case report and literature review. ( 27445228 )
2016
50
Erdheim Chester disease: A rare obstructive case of acute renal failure. ( 27597297 )
2016

Variations for Erdheim-Chester Disease

Expression for Erdheim-Chester Disease

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

Pathways for Erdheim-Chester Disease

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

(show all 40)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 BRAF CCL2 NRAS PIK3CA PRKG1 SERPINA3
2
Show member pathways
13.05 BRAF CCL2 CCR3 NRAS PIK3CA
3
Show member pathways
12.56 BRAF NRAS PIK3CA PRKG1
4 12.45 BRAF NRAS PIK3CA
5 12.4 BRAF NRAS PIK3CA
6
Show member pathways
12.36 CCL2 NRAS PIK3CA
7
Show member pathways
12.34 BRAF NRAS PIK3CA
8
Show member pathways
12.32 BRAF NRAS PIK3CA
9
Show member pathways
12.29 BRAF NRAS PIK3CA
10
Show member pathways
12.28 BRAF NRAS PIK3CA
11
Show member pathways
12.19 BRAF NRAS PRKG1
12
Show member pathways
12.18 BRAF CCL2 PIK3CA
13
Show member pathways
12.16 BRAF NRAS PIK3CA
14
Show member pathways
12.11 BRAF NRAS PIK3CA
15
Show member pathways
12.1 BRAF CCL2 CCR3 NRAS PIK3CA
16
Show member pathways
12.06 BRAF NRAS PIK3CA
17
Show member pathways
12.04 BRAF CCL2 NRAS
18 12.04 BRAF NRAS PIK3CA
19 12.03 CCR3 NRAS PIK3CA
20
Show member pathways
11.99 BRAF NRAS PIK3CA
21
Show member pathways
11.84 BRAF NRAS PIK3CA
22
Show member pathways
11.76 BRAF NRAS PIK3CA
23
Show member pathways
11.72 BRAF NRAS PIK3CA
24 11.66 BRAF NRAS PIK3CA
25 11.51 BRAF PIK3CA
26 11.49 NRAS PIK3CA
27
Show member pathways
11.49 BRAF NRAS
28 11.49 CCL2 NRAS PIK3CA
29 11.47 CCL2 CCR3
30 11.39 PIK3CA PRKG1
31 11.39 BRAF PIK3CA
32
Show member pathways
11.35 BRAF NRAS PIK3CA
33 11.16 BRAF NRAS
34 11.11 BRAF NRAS PRKG1
35 11.08 NRAS PIK3CA
36 11.05 BRAF NRAS
37 11.01 BRAF PIK3CA
38 10.9 BRAF PIK3CA
39 10.76 CCL2 SERPINA3
40 10.2 CCL2 CCR3 PIK3CA

GO Terms for Erdheim-Chester Disease

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

id Name GO ID Score Top Affiliating Genes
1 intracellular GO:0005622 9.02 BRAF CCL2 NRAS PIK3CA SERPINA3

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.77 BRAF CCL2 CCR3 NRAS PRKG1
2 inflammatory response GO:0006954 9.63 CCL2 CCR3 SERPINA3
3 positive regulation of endothelial cell proliferation GO:0001938 9.49 CCL2 CCR3
4 cellular response to drug GO:0035690 9.48 BRAF CCL2
5 cellular response to glucose stimulus GO:0071333 9.43 CCL2 PIK3CA
6 MAPK cascade GO:0000165 9.43 BRAF CCL2 NRAS
7 epidermal growth factor receptor signaling pathway GO:0007173 9.4 NRAS PIK3CA
8 ERBB2 signaling pathway GO:0038128 9.32 NRAS PIK3CA
9 protein phosphorylation GO:0006468 9.26 BRAF CCL2 PIK3CA PRKG1
10 protein kinase B signaling GO:0043491 9.16 CCL2 PIK3CA
11 negative regulation of neuron apoptotic process GO:0043524 8.8 BRAF CCL2 PIK3CA

Sources for Erdheim-Chester Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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