ECD
MCID: ERD001
MIFTS: 60

Erdheim-Chester Disease (ECD)

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

Aliases & Classifications for Erdheim-Chester Disease

MalaCards integrated aliases for Erdheim-Chester Disease:

Name: Erdheim-Chester Disease 12 53 25 59 44 15 73
Polyostotic Sclerosing Histiocytosis 25
Erdheim Chester Disease 53
Erdheimchester Disease 76
Lipoid Granulomatosis 53
Lipid Granulomatosis 25
Ecd 53

Characteristics:

Orphanet epidemiological data:

59
erdheim-chester disease
Inheritance: Not applicable; Age of onset: Adult; Age of death: any age;

Classifications:



Summaries for Erdheim-Chester Disease

NIH Rare Diseases : 53 Erdheim-Chester disease (ECD) is a rare condition that can affect many parts of the body. It has been diagnosed in children, but it most commonly affects adults. ECD causes the over-production of immune cells called histiocytes, which then accumulate in tissues and organs in the body. Parts of the body that may be involved include the long bones, retroperitoneum, skin, eyes and eyelids, lungs, brain, heart, kidneys, and pituitary gland; however various other tissues or organs can be affected. The signs and symptoms of ECD vary from person to person depending upon the specific locations and extent of involvement. For example, the long bones of the legs are commonly affected, leading to bone pain. When tissues around the eyes are affected, a person may have soft, fatty bumps on the eyelids or protrusion of the eyeballs. Lung involvement may cause pulmonary fibrosis, which can lead to life-threatening complications. People with pituitary gland involvement may develop diabetes insipidus, and brain involvement may lead to various neurologic symptoms. Non-specific symptoms that may develop in people with ECD include weight loss, fever, muscle and joint aches, and malaise. The underlying cause of ECD is not always known. Some people with ECD test positive for an acquired (non-inherited) mutation in the BRAF gene (most commonly) or one of several other genes, which may allow histiocytes to reproduce uncontrollably. The disease is diagnosed based on the symptoms, biopsies of involved tissue examined under a microscope (pathology), and specialized tests that may include blood tests and imaging studies such as X-rays, CT scans, MRIs, and bone scans. There is no cure or standard treatment for ECD. Various treatments have been attempted with varying success at controlling symptoms, including corticosteroids, chemotherapy, radiation therapy, immunotherapy, and surgery. A medication called vemurafenib was approved by the FDA to treat some people with ECD who have the BRAF gene mutation. The long-term outlook (prognosis) varies from person to person. Without successful treatment organ failure can occur, but with treatment, there are people with ECD who are able to live a near-normal life.

MalaCards based summary : Erdheim-Chester Disease, also known as polyostotic sclerosing histiocytosis, is related to langerhans cell histiocytosis and non-langerhans-cell histiocytosis. 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 TGF-Beta Pathway. The drugs Dabrafenib and Trametinib have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and heart, and related phenotypes are abnormality of epiphysis morphology and ptosis

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 : 76 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 167)
# Related Disease Score Top Affiliating Genes
1 langerhans cell histiocytosis 31.3 BRAF NRAS TNFSF11
2 non-langerhans-cell histiocytosis 30.8 BRAF SST
3 urinary tract obstruction 30.2 CCL2 PIK3CA
4 lipogranulomatosis 12.1
5 atrioventricular septal defect 11.8
6 split-hand/foot malformation 1 11.2
7 hemifacial atrophy, progressive 11.1
8 histiocytosis 10.9
9 hemopericardium 10.5
10 pericardial effusion 10.5
11 diabetes insipidus 10.5
12 interstitial lung disease 10.5
13 lung disease 10.5
14 lymphoma 10.5
15 exophthalmos 10.5
16 eosinophilic granuloma 10.5
17 polycythemia vera 10.3
18 diabetes mellitus 10.3
19 leukemia 10.3
20 lymphocytic leukemia 10.3
21 pericarditis 10.3
22 juvenile xanthogranuloma 10.3
23 polycythemia 10.3
24 vasculitis 10.3
25 igg4-related disease 10.3
26 acral lentiginous melanoma 10.2 BRAF NRAS
27 mucosal melanoma 10.2 BRAF NRAS
28 burkitt lymphoma 10.2
29 diabetes mellitus, noninsulin-dependent 10.2
30 hashimoto thyroiditis 10.2
31 multiple system atrophy 1 10.2
32 thrombophilia due to thrombin defect 10.2
33 thyroid cancer, nonmedullary, 1 10.2
34 dermatitis, atopic 10.2
35 aceruloplasminemia 10.2
36 leukemia, acute lymphoblastic 10.2
37 bone mineral density quantitative trait locus 15 10.2
38 acute leukemia 10.2
39 acute lymphocytic leukemia 10.2
40 end stage renal failure 10.2
41 hematopoietic stem cell transplantation 10.2
42 hemophagocytic lymphohistiocytosis 10.2
43 hepatitis 10.2
44 thrombocytopenia 10.2
45 familial hemiplegic migraine 10.2
46 colitis 10.2
47 thrombosis 10.2
48 portal hypertension 10.2
49 hydronephrosis 10.2
50 rhinoscleroma 10.2

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:

59 32 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
2 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
3 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
4 hyperhidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000975
5 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
6 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
7 hyperreflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001347
8 nausea and vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002017
9 aseptic necrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0010885
10 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
11 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
12 fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001945
13 polydipsia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001959
14 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
15 joint swelling 59 32 frequent (33%) Frequent (79-30%) HP:0001386
16 pulmonary fibrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002206
17 dyspnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002094
18 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
19 abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002027
20 weight loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0001824
21 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
22 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
23 diabetes insipidus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000873
24 osteomyelitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002754
25 skin rash 59 32 occasional (7.5%) Occasional (29-5%) HP:0000988
26 cough 59 32 occasional (7.5%) Occasional (29-5%) HP:0012735
27 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
28 increased bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0011001
29 proptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000520
30 osteolysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002797
31 hydronephrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000126
32 dysuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0100518
33 pleural effusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0002202
34 xanthelasma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001114
35 interstitial pulmonary abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0006530
36 abnormal pericardium morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001697
37 retroperitoneal fibrosis 59 32 frequent (33%) Frequent (79-30%) HP:0005200
38 abnormality of the aortic valve 59 Frequent (79-30%)
39 hypogonadotrophic hypogonadism 32 hallmark (90%) HP:0000044
40 abnormality of immune system physiology 59 Occasional (29-5%)
41 abnormality of the cerebellum 59 Occasional (29-5%)
42 low gonadotropins (secondary hypogonadism) 59 Very frequent (99-80%)
43 abnormal cerebellum morphology 32 occasional (7.5%) HP:0001317
44 abnormal aortic valve morphology 32 frequent (33%) HP:0001646

MGI Mouse Phenotypes related to Erdheim-Chester Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.8 BRAF CCL2 IL1B NRAS PIK3CA SST
2 integument MP:0010771 9.55 BRAF IL1B NRAS PIK3CA TNFSF11
3 neoplasm MP:0002006 9.35 BRAF IL1B NRAS PIK3CA TNFSF11
4 skeleton MP:0005390 9.1 BRAF IL1B NRAS PIK3CA SST TNFSF11

Drugs & Therapeutics for Erdheim-Chester Disease

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

(show all 42)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
2
Trametinib Approved Phase 2 871700-17-3 11707110
3
Dimethyl sulfoxide Approved, Vet_approved Phase 2 67-68-5 679
4
Vemurafenib Approved Phase 2 918504-65-1 23252090 42611257
5
Cetuximab Approved Phase 2,Phase 1 205923-56-4 56842117 2333
6
Lenalidomide Approved Phase 2 191732-72-6 216326
7 Protein Kinase Inhibitors Phase 2
8 Mitogens Phase 2,Phase 1
9 Antioxidants Phase 2
10 Free Radical Scavengers Phase 2
11 Protective Agents Phase 2
12 Anti-Bacterial Agents Phase 2,Phase 1
13 Immunosuppressive Agents Phase 2,Phase 1
14 Anti-Infective Agents Phase 2,Phase 1
15 Angiogenesis Inhibitors Phase 2,Phase 1
16 Angiogenesis Modulating Agents Phase 2,Phase 1
17 Immunologic Factors Phase 2,Phase 1
18
Sirolimus Approved, Investigational Phase 1 53123-88-9 46835353 6436030 5284616
19
Everolimus Approved Phase 1 159351-69-6 6442177
20
Valproic Acid Approved, Investigational Phase 1 99-66-1 3121
21
Bevacizumab Approved, Investigational Phase 1 216974-75-3
22
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
23 Immunoglobulin G Phase 1
24 GABA Agents Phase 1
25 Psychotropic Drugs Phase 1
26 Central Nervous System Depressants Phase 1
27 Antibiotics, Antitubercular Phase 1
28 Endothelial Growth Factors Phase 1
29 Tranquilizing Agents Phase 1
30 Antifungal Agents Phase 1
31 Antibodies, Monoclonal Phase 1
32 Antimanic Agents Phase 1
33 Anticonvulsants Phase 1
34 Neurotransmitter Agents Phase 1
35 Antibodies Phase 1
36 Immunoglobulins Phase 1
37
Choline Approved, Nutraceutical 62-49-7 305
38 Nootropic Agents
39 Antimetabolites
40 Lipid Regulating Agents
41 Gastrointestinal Agents
42 Hypolipidemic Agents

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Dabrafenib and Trametinib in People With BRAF V600E Mutation Positive Lesions in Erdheim Chester Disease Completed NCT02281760 Phase 2 Dabrafenib Mesylate;Trametinib Dimethyl Sulfoxide
2 A Study of Vemurafenib in Participants With BRAF V600 Mutation-Positive Cancers Completed NCT01524978 Phase 2 cetuximab;vemurafenib;vemurafenib
3 A Study of Lenalidomide for Adult Histiocyte Disorders Active, not recruiting NCT02523040 Phase 2 Lenalidomide
4 Dabrafenib and Trametinib in Treating Patients With Erdheim Chester Disease With BRAF V600 Mutations Not yet recruiting NCT03794297 Phase 2 Dabrafenib Mesylate;Trametinib Dimethyl Sulfoxide
5 Pilot Study of Tocilizumab in Patients With Erdheim-Chester Disease Terminated NCT01727206 Phase 2 Tocilizumab
6 Bevacizumab and Temsirolimus Alone or in Combination With Valproic Acid or Cetuximab in Treating Patients With Advanced or Metastatic Malignancy or Other Benign Disease Recruiting NCT01552434 Phase 1 Temsirolimus;Valproic Acid
7 Uptake and Biodistribution of 18F-fluorocholine in Histiocytic Disorders by PET Imaging and Biopsy Measurement Completed NCT02608619
8 Registry for Patients With Erdheim-Chester Disease Recruiting NCT03329274
9 Long-term Outcome After Vemurafenib / BRAF Inhibitors Interruption in Erdheim-chester Disease Recruiting NCT02089724
10 Clinical and Pathophysiological Investigations Into Erdheim Chester Disease Recruiting NCT01417520
11 A Study of Memory, Thinking, and Brain Imaging in Adults With Histiocytosis Recruiting NCT03127709
12 Biomarker for Farber Disease Recruiting NCT02298634
13 Farber Disease Natural History Study Recruiting NCT03233841
14 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:

41
Bone, Skin, Heart, Lung, Brain, Kidney, Pituitary

Publications for Erdheim-Chester Disease

Articles related to Erdheim-Chester Disease:

(show top 50) (show all 550)
# Title Authors Year
1
A Rare Case of Erdheim-Chester Disease (Non-Langerhans Cell Histiocytosis) with Concurrent Langerhans Cell Histiocytosis: A Diagnostic and Therapeutic Challenge. ( 29888013 )
2018
2
Neuroradiologic manifestations of Erdheim-Chester disease. ( 29517068 )
2018
3
The Hairy Kidney of Erdheim-Chester Disease. ( 29728208 )
2018
4
Thoracic involvement in Erdheim-Chester disease: computed tomography imaging findings and their association with the BRAF<sup>V600E</sup> mutation. ( 29736852 )
2018
5
Intracranial Erdheim-Chester Disease Mimicking Parafalcine Meningioma: Report of Two Cases and Review of the Literature. ( 29191545 )
2018
6
The fibrogenic chemokine CCL18 is associated with disease severity in Erdheim-Chester disease. ( 29900045 )
2018
7
Efficacy of infliximab in the treatment of Erdheim-Chester disease. ( 29363511 )
2018
8
Prognostic factors of Erdheim-Chester Disease: A nationwide survey in Japan. ( 29976744 )
2018
9
Abdominal involvement in Erdheim-Chester disease (ECD): MRI and CT imaging findings and their association with BRAF<sup>V600E</sup> mutation. ( 29556768 )
2018
10
FDG PET/CT Findings of Erdheim-Chester Disease: Radiologic Response to a Novel Treatment Regimen. ( 29485431 )
2018
11
Treating Heart Inflammation With Interleukin-1 Blockade in a Case of Erdheim-Chester Disease. ( 29910817 )
2018
12
Phenotypes and survival in Erdheim-Chester disease: Results from a 165-patient cohort. ( 29396850 )
2018
13
Erdheim-chester disease: Case report with testes involvement and review of literature. ( 29686965 )
2018
14
Detection of anti-neutrophil cytoplasmic and antinuclear autoantibodies favouring misdiagnoses in 5 cases of Erdheim-Chester disease. ( 29652657 )
2018
15
Hypoalphalipoproteinemia and <i>BRAF</i><sup>V600E</sup> Mutation Are Major Predictors of Aortic Infiltration in the Erdheim-Chester Disease. ( 29930009 )
2018
16
Significant response to dabrafenib in a patient with Erdheim-Chester disease with BRAFV600E mutation. ( 29968698 )
2018
17
Erdheim-Chester Disease and Palatal Tremor. ( 29145922 )
2018
18
Cutaneous manifestations of paediatric Erdheim-Chester disease, a histiocytosis of the 'L' group. ( 29357606 )
2018
19
An autopsy case report: Differences in radiological images correlate with histology in Erdheim-Chester disease. ( 29603831 )
2018
20
Adult leukoencephalopathies with prominent infratentorial involvement can be caused by Erdheim-Chester disease. ( 29204962 )
2018
21
Erdheim-Chester disease: description of two illustrative cases involving the lung. ( 29469219 )
2018
22
Juvenile xanthogranuloma: A herald to the diagnosis of Erdheim-Chester disease in an adult with acute leukemia. ( 30117175 )
2018
23
Erdheim Chester disease in a patient with Burkitt lymphoma: a case report and review of literature. ( 30474563 )
2018
24
Central Diabetes Insipidus as an Early Presentation of Erdheim-Chester Disease. ( 30221876 )
2018
25
Resolved heart tamponade and controlled exophthalmos, facial pain and diabetes insipidus due to Erdheim-Chester disease. ( 30337283 )
2018
26
Erdheim-Chester Disease Presenting as an Anterior Mediastinal Tumor without Skeletal Involvement. ( 29854671 )
2018
27
Erdheim-Chester disease with isolated neurological involvement. ( 29991848 )
2018
28
Erdheim-Chester disease diagnosed by 99mTc-MDP bone scintigraphy and brief literature review. ( 30006650 )
2018
29
Imaging findings in Erdheim-Chester disease: what every radiologist needs to know. ( 30038679 )
2018
30
Orbital and chorioretinal manifestations of Erdheim-Chester disease treated with vemurafenib. ( 30094395 )
2018
31
FDA Approval Summary: Vemurafenib for the Treatment of Patients with Erdheim-Chester Disease with the BRAFV600 Mutation. ( 30120160 )
2018
32
Superior efficacy and similar safety of double dose anakinra in Erdheim-Chester disease after single dose treatment. ( 30221042 )
2018
33
Dabrafenib and Trametinib Treatment for Erdheim-Chester Disease With Brain Stem Involvement. ( 30225465 )
2018
34
Dramatic efficacy of dabrafenib in Erdheim-Chester disease (ECD): a pediatric patient with multiple large intracranial ECD lesions hidden by refractory Langerhans cell histiocytosis. ( 30265230 )
2018
35
A case of Erdheim-Chester disease with spinal cord compression and sphenoid sinus involvement. ( 30274919 )
2018
36
Cladribine treatment for Erdheim-Chester disease involving the central nervous system and concomitant polycythemia vera: A case report. ( 30305475 )
2018
37
3D culture of Erdheim-Chester disease tissues unveils histiocyte metabolism as a new therapeutic target. ( 30487147 )
2018
38
Image Gallery: Cutaneous lesions of Erdheim-Chester disease treated with carbon dioxide laser therapy. ( 30508238 )
2018
39
Successful Treatment of Erdheim-Chester Disease With Coronary Artery Involvement. ( 30527170 )
2018
40
Corneal involvement due to Erdheim-Chester disease. ( 30528948 )
2018
41
Arterial involvement in Erdheim-Chester disease: A retrospective cohort study. ( 30544428 )
2018
42
Clinical and Histopathologic Features of Interstitial Lung Disease in Erdheim⁻Chester Disease. ( 30154360 )
2018
43
Erdheim-Chester Disease Involving Lymph Nodes and Liver Clinically Mimicking Lymphoma: A Case Report. ( 29281781 )
2017
44
Clinical and radiological responses to oral methotrexate alone or in combination with other agents in Erdheim-Chester disease. ( 29242623 )
2017
45
Erdheim-Chester Disease: The Importance of Information Integration. ( 28868020 )
2017
46
Erdheim-Chester disease, moving away from the orphan diseases: A case report. ( 27995058 )
2017
47
Efficacy of intermediate-dose cytarabine in central nervous system-relapsed wild-type BRAF Erdheim-Chester disease. ( 28831599 )
2017
48
Erdheim-Chester disease with isolated skeletal involvement in patient with odontalgia. ( 28473220 )
2017
49
Erdheim-Chester disease presenting as bradycardia in an elderly man. ( 28620105 )
2017
50
The histopathology of Erdheim-Chester disease: a comprehensive review of a molecularly characterized cohort. ( 29192649 )
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 top 50) (show all 54)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 BRAF CCL2 IL1B NRAS PIK3CA SERPINA3
2
Show member pathways
13.33 BRAF CCL2 IL1B NRAS PIK3CA
3
Show member pathways
12.91 BRAF CCL2 IL1B NRAS PIK3CA TNFSF11
4
Show member pathways
12.86 CCL2 IL1B NRAS PIK3CA
5
Show member pathways
12.77 CCL2 NRAS PIK3CA TNFSF11
6
Show member pathways
12.72 BRAF NRAS PIK3CA TNFSF11
7
Show member pathways
12.67 BRAF CCL2 NRAS PIK3CA
8
Show member pathways
12.52 BRAF NRAS PIK3CA TNFSF11
9 12.4 CCL2 IL1B TNFSF11
10
Show member pathways
12.4 IL1B NRAS PIK3CA TNFSF11
11
Show member pathways
12.38 BRAF NRAS PIK3CA
12
Show member pathways
12.35 BRAF NRAS PIK3CA
13
Show member pathways
12.34 BRAF NRAS PIK3CA
14
Show member pathways
12.32 BRAF NRAS PIK3CA
15
Show member pathways
12.28 IL1B NRAS PIK3CA
16
Show member pathways
12.27 CCL2 IL1B NRAS PIK3CA
17
Show member pathways
12.26 BRAF NRAS TNFSF11
18
Show member pathways
12.26 IL1B NRAS PIK3CA
19
Show member pathways
12.23 BRAF CCL2 PIK3CA
20
Show member pathways
12.21 BRAF NRAS PIK3CA
21
Show member pathways
12.16 CCL2 IL1B SERPINA3
22
Show member pathways
12.13 CCL2 IL1B PIK3CA
23 12.12 BRAF NRAS PIK3CA
24
Show member pathways
12.12 IL1B NRAS PIK3CA TNFSF11
25
Show member pathways
12.1 BRAF NRAS PIK3CA
26
Show member pathways
12.04 BRAF NRAS PIK3CA
27
Show member pathways
12.03 IL1B NRAS PIK3CA
28
Show member pathways
11.97 BRAF NRAS PIK3CA
29 11.89 CCL2 IL1B PIK3CA
30
Show member pathways
11.88 BRAF NRAS PIK3CA
31 11.85 BRAF NRAS PIK3CA
32 11.82 IL1B PIK3CA TNFSF11
33
Show member pathways
11.81 BRAF CCL2 NRAS TNFSF11
34
Show member pathways
11.79 BRAF IL1B PIK3CA
35
Show member pathways
11.79 CCL2 IL1B NRAS PIK3CA
36 11.71 CCL2 IL1B PIK3CA
37
Show member pathways
11.66 BRAF CCL2 IL1B NRAS PIK3CA
38 11.59 CCL2 IL1B TNFSF11
39
Show member pathways
11.5 BRAF NRAS PIK3CA
40 11.4 CCL2 IL1B
41 11.4 CCL2 IL1B
42 11.39 CCL2 IL1B
43 11.36 IL1B TNFSF11
44 11.32 BRAF NRAS
45 11.24 BRAF NRAS PIK3CA
46 11.2 BRAF NRAS
47 11.13 NRAS PIK3CA
48 11.08 BRAF PIK3CA
49 11.03 CCL2 IL1B TNFSF11
50 10.99 BRAF PIK3CA

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 extracellular space GO:0005615 9.35 CCL2 IL1B SERPINA3 SST TNFSF11
2 intracellular GO:0005622 9.02 BRAF CCL2 PIK3CA SERPINA3 TNFSF11

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.62 CCL2 IL1B SST TNFSF11
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.61 BRAF CCL2 IL1B
3 negative regulation of neuron apoptotic process GO:0043524 9.54 BRAF CCL2 PIK3CA
4 response to heat GO:0009408 9.49 IL1B SST
5 monocyte chemotaxis GO:0002548 9.48 CCL2 TNFSF11
6 lipopolysaccharide-mediated signaling pathway GO:0031663 9.46 CCL2 IL1B
7 cytokine-mediated signaling pathway GO:0019221 9.46 CCL2 IL1B PIK3CA TNFSF11
8 animal organ morphogenesis GO:0009887 9.43 BRAF CCL2 TNFSF11
9 positive regulation of T cell activation GO:0050870 9.4 CCL2 TNFSF11
10 MAPK cascade GO:0000165 9.26 BRAF CCL2 IL1B NRAS
11 protein kinase B signaling GO:0043491 8.8 CCL2 IL1B PIK3CA

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 8.8 CCL2 IL1B TNFSF11

Sources for Erdheim-Chester Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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