MCID: ERD001
MIFTS: 57

Erdheim-Chester Disease

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

Aliases & Classifications for Erdheim-Chester Disease

MalaCards integrated aliases for Erdheim-Chester Disease:

Name: Erdheim-Chester Disease 12 49 24 55 41 14 69
Polyostotic Sclerosing Histiocytosis 24
Erdheim Chester Disease 49
Lipoid Granulomatosis 49
Lipid Granulomatosis 24
Ecd 49

Characteristics:

Orphanet epidemiological data:

55
erdheim-chester disease
Inheritance: Not applicable; Age of onset: Adult; Age of death: any age;

Classifications:



Summaries for Erdheim-Chester Disease

NIH Rare Diseases : 49 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 histiocytosis and non-langerhans-cell histiocytosis, and has symptoms including renal insufficiency, hydronephrosis and visual impairment. 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 Regulation of actin cytoskeleton. The drugs Cetuximab and Lenalidomide have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and brain, and related phenotype is immune system.

Genetics Home Reference : 24 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.

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 102)
# Related Disease Score Top Affiliating Genes
1 histiocytosis 31.0 BRAF SERPINA3
2 non-langerhans-cell histiocytosis 30.6 BRAF SST
3 urinary tract obstruction 29.9 CCL2 PIK3CA
4 atrioventricular septal defect 11.7
5 lipogranulomatosis 11.3
6 split-hand/foot malformation 1 11.1
7 hemifacial atrophy, progressive 10.9
8 langerhans cell histiocytosis 10.7
9 cerebritis 10.5
10 hemopericardium 10.4
11 pericardial effusion 10.4
12 meningioma, familial 10.3
13 interstitial lung disease 10.3
14 lung disease 10.3
15 diabetes insipidus 10.3
16 eosinophilic granuloma 10.3
17 thyroid cancer, anaplastic 10.3 BRAF PIK3CA
18 tumor suppressor gene on chromosome 11 10.3 BRAF PIK3CA
19 fibrosis of extraocular muscles, congenital, 1 10.2
20 lymphoma 10.2
21 thyroiditis 10.2
22 exophthalmos 10.2
23 acral lentiginous melanoma 10.2 BRAF NRAS
24 mucosal melanoma 10.2 BRAF NRAS
25 nevus, epidermal 10.2 NRAS PIK3CA
26 acneiform dermatitis 10.2 NRAS PIK3CA
27 ataxia and polyneuropathy, adult-onset 10.2
28 episodic pain syndrome, familial, 1 10.2
29 diabetes mellitus 10.2
30 hepatitis 10.2
31 leukemia 10.2
32 pericarditis 10.2
33 vasculitis 10.2
34 igg4-related disease 10.2
35 villous adenoma 10.2 BRAF SST
36 secretory meningioma 10.1 PIK3CA SERPINA3
37 hashimoto thyroiditis 10.0
38 multiple system atrophy 1 10.0
39 migraine with or without aura 1 10.0
40 thrombophilia due to thrombin defect 10.0
41 thyroid cancer, nonmedullary, 1 10.0
42 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 10.0
43 polycythemia vera 10.0
44 dermatitis, atopic 10.0
45 aceruloplasminemia 10.0
46 mycobacterium tuberculosis 1 10.0
47 bone mineral density quantitative trait locus 15 10.0
48 ataxia-oculomotor apraxia 3 10.0
49 acute lymphocytic leukemia 10.0
50 end stage renal failure 10.0

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:

55 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0000083
2 hydronephrosis 55 31 frequent (33%) Frequent (79-30%) HP:0000126
3 visual impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000505
4 ptosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000508
5 proptosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000520
6 nystagmus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000639
7 diabetes insipidus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000873
8 abnormality of the metaphysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000944
9 hyperhidrosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000975
10 skin rash 55 31 occasional (7.5%) Occasional (29-5%) HP:0000988
11 xanthelasma 55 31 hallmark (90%) Very frequent (99-80%) HP:0001114
12 ataxia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001251
13 dysarthria 55 31 occasional (7.5%) Occasional (29-5%) HP:0001260
14 hyperreflexia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001347
15 joint swelling 55 31 frequent (33%) Frequent (79-30%) HP:0001386
16 congestive heart failure 55 31 occasional (7.5%) Occasional (29-5%) HP:0001635
17 weight loss 55 31 hallmark (90%) Very frequent (99-80%) HP:0001824
18 anemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001903
19 fever 55 31 hallmark (90%) Very frequent (99-80%) HP:0001945
20 polydipsia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001959
21 nausea and vomiting 55 31 occasional (7.5%) Occasional (29-5%) HP:0002017
22 abdominal pain 55 31 frequent (33%) Frequent (79-30%) HP:0002027
23 dyspnea 55 31 occasional (7.5%) Occasional (29-5%) HP:0002094
24 pleural effusion 55 31 occasional (7.5%) Occasional (29-5%) HP:0002202
25 pulmonary fibrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002206
26 bone pain 55 31 hallmark (90%) Very frequent (99-80%) HP:0002653
27 osteomyelitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002754
28 osteolysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002797
29 retroperitoneal fibrosis 55 31 frequent (33%) Frequent (79-30%) HP:0005200
30 abnormality of epiphysis morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0005930
31 interstitial pulmonary abnormality 55 31 occasional (7.5%) Occasional (29-5%) HP:0006530
32 aseptic necrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0010885
33 increased bone mineral density 55 31 hallmark (90%) Very frequent (99-80%) HP:0011001
34 fatigue 55 31 hallmark (90%) Very frequent (99-80%) HP:0012378
35 cough 55 31 occasional (7.5%) Occasional (29-5%) HP:0012735
36 dysuria 55 31 hallmark (90%) Very frequent (99-80%) HP:0100518
37 abnormality of the cerebellum 55 Occasional (29-5%)
38 abnormality of the aortic valve 55 Frequent (79-30%)
39 abnormality of the pericardium 55 Occasional (29-5%)
40 low gonadotropins (secondary hypogonadism) 55 Very frequent (99-80%)
41 abnormality of immune system physiology 55 Occasional (29-5%)
42 hypogonadotrophic hypogonadism 31 hallmark (90%) HP:0000044
43 abnormal aortic valve morphology 31 frequent (33%) HP:0001646
44 abnormal pericardium morphology 31 occasional (7.5%) HP:0001697

MGI Mouse Phenotypes related to Erdheim-Chester Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.1 BRAF CCL2 CCR6 NRAS PIK3CA SST

Drugs & Therapeutics for Erdheim-Chester Disease

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

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cetuximab Approved Phase 2 205923-56-4 56842117 2333
2
Lenalidomide Approved Phase 2 191732-72-6 216326
3
Dabrafenib Approved, Investigational Phase 2 44462760 44516822
4
Dimethyl sulfoxide Approved, Vet_approved Phase 2 67-68-5 679
5
Trametinib Approved Phase 2 871700-17-3 11707110
6 Angiogenesis Inhibitors Phase 2
7 Angiogenesis Modulating Agents Phase 2
8 Anti-Bacterial Agents Phase 2
9 Anti-Infective Agents Phase 2
10 Immunosuppressive Agents Phase 2
11 Antioxidants Phase 2
12 Mitogens Phase 2
13 Protective Agents Phase 2
14 Protein Kinase Inhibitors Phase 2
15
Choline Approved, Nutraceutical 62-49-7 305
16 Antimetabolites
17 Gastrointestinal Agents
18 Hypolipidemic Agents
19 Lipid Regulating Agents
20 Nootropic Agents

Interventional clinical trials:

(show all 12)

# Name Status NCT ID Phase Drugs
1 A Study of Vemurafenib in Participants With BRAF V600 Mutation-Positive Cancers Completed NCT01524978 Phase 2 cetuximab;vemurafenib;vemurafenib
2 A Study of Lenalidomide for Adult Histiocyte Disorders Recruiting NCT02523040 Phase 2 Lenalidomide
3 Dabrafenib and Trametinib in People With BRAF V600E Mutation Positive Lesions in Erdheim Chester Disease Suspended NCT02281760 Phase 2 Dabrafenib Mesylate;Trametinib Dimethyl Sulfoxide
4 Pilot Study of Tocilizumab in Patients With Erdheim-Chester Disease Terminated NCT01727206 Phase 2 Tocilizumab
5 Registry for Patients Erdheim-Chester Disease Recruiting NCT03329274
6 Long-term Outcome After Vemurafenib / BRAF Inhibitors Interruption in Erdheim-chester Disease Recruiting NCT02089724
7 Clinical and Pathophysiological Investigations Into Erdheim Chester Disease Recruiting NCT01417520
8 A Study of Memory, Thinking, and Brain Imaging in Adults With Histiocytosis Recruiting NCT03127709
9 Biomarker for Farber Disease Recruiting NCT02298634
10 Uptake and Biodistribution of 18F-fluorocholine in Histiocytic Disorders by PET Imaging and Biopsy Measurement Recruiting NCT02608619
11 Farber Disease Natural History Study Recruiting NCT03233841
12 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:

38
Bone, Skin, Brain, Lung, Pituitary, Heart, Liver

Publications for Erdheim-Chester Disease

Articles related to Erdheim-Chester Disease:

(show top 50) (show all 484)
# Title Authors Year
1
Adult leukoencephalopathies with prominent infratentorial involvement can be caused by Erdheim-Chester disease. ( 29204962 )
2018
2
Intracranial Erdheim-Chester Disease Mimicking Parafalcine Meningioma: Report of Two Cases and Review of the Literature. ( 29191545 )
2018
3
Efficacy of infliximab in the treatment of Erdheim-Chester disease. ( 29363511 )
2018
4
Cutaneous manifestations of paediatric Erdheim-Chester disease, a histiocytosis of the 'L' group. ( 29357606 )
2018
5
Erdheim-Chester Disease and Palatal Tremor. ( 29145922 )
2018
6
Phenotypes and survival in Erdheim-Chester disease: Results from a 165-patient cohort. ( 29396850 )
2018
7
Targeted therapies in 54 patients with Erdheim-Chester disease, including follow-up after interruption (the LOVE study). ( 28667012 )
2017
8
Complementary findings on (18)F-FDG PET/CT and (18)F-NaF PET/CT in a patient with Erdheim-Chester disease. ( 28670036 )
2017
9
Neurological manifestation of Erdheim Chester disease: A series of 3 patients. ( 28290409 )
2017
10
Spontaneous Bilateral Pneumothoraces in Erdheim-Chester Disease. ( 29132763 )
2017
11
Erdheim-Chester disease, moving away from the orphan diseases: A case report. ( 27995058 )
2017
12
Erdheim-Chester Disease presenting with histiocytic colitis and cytokine storm. ( 28617889 )
2017
13
Erdheim-Chester disease with unusual clinicopathological features complicated by DRESS syndrome, disseminated Cytomegalovirus infection and hemophagocytic lymphohistiocytosis. ( 28418177 )
2017
14
Efficacy of intermediate-dose cytarabine in central nervous system-relapsed wild-type BRAF Erdheim-Chester disease. ( 28831599 )
2017
15
Clinical and Radiologic Responses to Cladribine for the Treatment of Erdheim-Chester Disease. ( 28253394 )
2017
16
Erdheim-Chester Disease: The Importance of Information Integration. ( 28868020 )
2017
17
Hematopoietic origin of Langerhans cell histiocytosis and Erdheim Chester disease in adults. ( 28512190 )
2017
18
Erdheim-Chester disease: the "targeted" revolution. ( 28912295 )
2017
19
Erdheim-Chester Disease with atrial mass and perinephric calcification. ( 29225878 )
2017
20
Erdheim-Chester disease: atypical presentation of a rare disease. ( 29025773 )
2017
21
Erdheim-Chester disease with isolated skeletal involvement in patient with odontalgia. ( 28473220 )
2017
22
An unusual case of interstitial lung disease in a patient with cardiopulmonary syndrome as the initial presentation of Erdheim-Chester disease. ( 28739622 )
2017
23
Successful Lung Transplantation for Pulmonary Disease Associated With Erdheim-Chester Disease. ( 28633251 )
2017
24
Clinical and radiological responses to oral methotrexate alone or in combination with other agents in Erdheim-Chester disease. ( 29242623 )
2017
25
Langerhans cell histiocytosis and Erdheim-Chester disease overlap syndrome with bone marrow involvement and type 2 diabetes mellitus. ( 28889238 )
2017
26
A rare case of Erdheim-Chester disease in the breast. ( 28151461 )
2017
27
An unusual thoracic localizations of Erdheim- Chester disease: A case report. ( 28149747 )
2017
28
Orphan drug approval for Erdheim-Chester disease. ( 29195598 )
2017
29
Association between Ischemic Stroke and Erdheim-Chester Disease: A Case Report and Review of Literature. ( 28623120 )
2017
30
Pediatric Erdheim-Chester disease with aggressive skin manifestations. ( 28078666 )
2017
31
Vemurafenib for BRAF V600-Mutant Erdheim-Chester Disease and Langerhans Cell Histiocytosis: Analysis of Data From the Histology-Independent, Phase 2, Open-label VE-BASKET Study. ( 29188284 )
2017
32
The histopathology of Erdheim-Chester disease: a comprehensive review of a molecularly characterized cohort. ( 29192649 )
2017
33
Three Cases of Erdheim-Chester Disease With Intraocular Manifestations: Imaging and Histopathology Findings of a Rare Entity. ( 28153505 )
2017
34
CNS Erdheim-Chester Disease: A Challenge to Diagnose. ( 29096034 )
2017
35
Spinal epidural involvement in Erdheim-Chester disease: (18)F-FDG PET/CT findings. ( 28610870 )
2017
36
Erdheim-Chester Disease: Case Report with Aggressive Multisystem Manifestations and Review of the Literature. ( 28690524 )
2017
37
F-18 FDG PET-CT in Erdheim-Chester Disease: Imaging Findings and Potential BRAF Mutation Biomarker. ( 29097410 )
2017
38
Erdheim-Chester disease associated with a novel, complex BRAF p.Thr599_Val600delinsArgGlu mutation. ( 28455460 )
2017
39
Erdheim-Chester Disease with No Skeletal Bone Involvement and Massive Weight Loss. ( 29214086 )
2017
40
Effective BRAF inhibitor vemurafenib therapy in a 2-year-old patient with sequentially diagnosed Langerhans cell histiocytosis and Erdheim-Chester disease. ( 28182116 )
2017
41
Combination of adalimumab with lower dose of methylprednisolone in Erdheim-Chester disease with systemic involvement. ( 28080175 )
2017
42
Isolated pulmonary involvement in Erdheim-Chester disease. ( 29099004 )
2017
43
18F-FDG PET/CT in Erdheim-Chester disease. ( 28364162 )
2017
44
Erdheim-Chester Disease Involving Lymph Nodes and Liver Clinically Mimicking Lymphoma: A Case Report. ( 29281781 )
2017
45
Case 245: Erdheim-Chester Disease. ( 28825890 )
2017
46
A Fatal Case of Erdheim-Chester Disease with Hepatic Involvement. ( 28798943 )
2017
47
A cytologic diagnosis of BRAF(V600E) Erdheim-Chester disease on pericardial fluid. ( 28222655 )
2017
48
Vemurafenib (BRAF Inhibitor) Therapy for Orbital Erdheim-Chester Disease. ( 28099231 )
2017
49
Tocilizumab in patients with multisystem Erdheim-Chester disease. ( 28680751 )
2017
50
Efficacy of biological agents in the treatment of Erdheim-Chester disease. ( 29082516 )
2017

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 35)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.72 BRAF CCL2 CCR6 NRAS PIK3CA SERPINA3
2 12.38 BRAF NRAS PIK3CA
3
Show member pathways
12.35 CCL2 NRAS PIK3CA
4
Show member pathways
12.33 BRAF NRAS PIK3CA
5
Show member pathways
12.32 BRAF NRAS PIK3CA
6
Show member pathways
12.28 BRAF NRAS PIK3CA
7
Show member pathways
12.24 BRAF NRAS PIK3CA
8
Show member pathways
12.22 BRAF NRAS PIK3CA
9
Show member pathways
12.21 BRAF NRAS PIK3CA
10
Show member pathways
12.14 BRAF CCL2 PIK3CA
11
Show member pathways
12.11 BRAF NRAS PIK3CA
12 11.98 BRAF NRAS PIK3CA
13
Show member pathways
11.97 BRAF NRAS PIK3CA
14
Show member pathways
11.97 BRAF CCL2 NRAS
15
Show member pathways
11.92 BRAF NRAS PIK3CA
16
Show member pathways
11.79 BRAF NRAS PIK3CA
17
Show member pathways
11.77 BRAF CCL2 CCR6 NRAS PIK3CA
18
Show member pathways
11.73 BRAF NRAS PIK3CA
19
Show member pathways
11.64 BRAF NRAS PIK3CA
20 11.55 BRAF NRAS PIK3CA
21 11.5 BRAF PIK3CA
22 11.48 NRAS PIK3CA
23
Show member pathways
11.47 BRAF NRAS
24 11.43 BRAF NRAS
25 11.37 BRAF PIK3CA
26 11.33 CCL2 NRAS PIK3CA
27 11.24 BRAF NRAS
28 11.15 BRAF NRAS PIK3CA
29 11.12 BRAF NRAS
30
Show member pathways
11.05 BRAF NRAS PIK3CA
31 11.04 NRAS PIK3CA
32 10.96 BRAF PIK3CA
33 10.91 CCL2 PIK3CA
34 10.84 BRAF PIK3CA
35 10.71 CCL2 SERPINA3

GO Terms for Erdheim-Chester Disease

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

# Name GO ID Score Top Affiliating Genes
1 intracellular GO:0005622 9.02 BRAF CCL2 CCR6 PIK3CA SERPINA3

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

# Name GO ID Score Top Affiliating Genes
1 G-protein coupled receptor signaling pathway GO:0007186 9.76 CCL2 CCR6 PIK3CA SST
2 inflammatory response GO:0006954 9.61 CCL2 PIK3CA SERPINA3
3 humoral immune response GO:0006959 9.4 CCL2 CCR6
4 epidermal growth factor receptor signaling pathway GO:0007173 9.37 NRAS PIK3CA
5 MAPK cascade GO:0000165 9.33 BRAF CCL2 NRAS
6 protein kinase B signaling GO:0043491 9.32 CCL2 PIK3CA
7 ERBB2 signaling pathway GO:0038128 9.26 NRAS PIK3CA
8 negative regulation of neuron apoptotic process GO:0043524 9.13 BRAF CCL2 PIK3CA
9 cell chemotaxis GO:0060326 8.8 CCL2 CCR6 PIK3CA

Sources for Erdheim-Chester Disease

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