ECD
MCID: ERD001
MIFTS: 52

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 74 52 25 58 43 15 17 71
Polyostotic Sclerosing Histiocytosis 25
Erdheim Chester Disease 52
Lipoid Granulomatosis 52
Lipid Granulomatosis 25
Ecd 52

Characteristics:

Orphanet epidemiological data:

58
erdheim-chester disease
Inheritance: Not applicable; Age of onset: Adult; Age of death: any age;

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare skin diseases


Summaries for Erdheim-Chester Disease

NIH Rare Diseases : 52 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 idiopathic interstitial pneumonia. An important gene associated with Erdheim-Chester Disease is SERPINA3 (Serpin Family A Member 3), and among its related pathways/superpathways are Innate Immune System and Integrin Pathway. The drugs Trametinib and Dabrafenib 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 hyperhidrosis

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. People with Erdheim-Chester disease often have bone pain, especially in the lower legs and upper arms, due to an abnormal increase in bone density (osteosclerosis). Damage to the pituitary gland (a structure at the base of the brain that produces several hormones, including a hormone that controls the amount of water released in the urine) may result in hormonal problems such as a condition called diabetes insipidus that leads to excessive urination. Abnormally high pressure of the cerebrospinal fluid within the skull (intracranial hypertension) caused by accumulation of histiocytes in the brain may result in headaches, seizures, cognitive impairment, or problems with movement or sensation. People with this condition can also have shortness of breath, heart or kidney disease, protruding eyes (exophthalmos), skin growths, or inability to conceive a child (infertility). Affected individuals may also experience fever, night sweats, fatigue, weakness, and weight loss. The signs and symptoms of Erdheim-Chester disease usually appear between the ages of 40 and 60, although the disorder can occur at any age. The severity of the condition varies widely; some affected individuals have few or no associated health problems, while others have severe complications that can be life-threatening.

Wikipedia : 74 Erdheim-Chester disease is a rare disease characterized by the abnormal multiplication of a specific... 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 439)
# Related Disease Score Top Affiliating Genes
1 langerhans cell histiocytosis 31.0 NRAS CD1C CD1A CCR6 BRAF
2 idiopathic interstitial pneumonia 30.9 CCR7 CCR6 CCL2
3 histiocytosis 30.8 SERPINA3 NRAS CD1C CD1A CCR6 BRAF
4 urinary tract obstruction 30.7 PIK3CA CCR6 CCL2
5 thyroid carcinoma 30.7 PIK3CA NRAS BRAF
6 sarcoidosis 1 30.3 SERPINA3 CCR6 CCL4 CCL2
7 malignant histiocytosis 30.3 SERPINA3 CD1E CD1A
8 non-langerhans-cell histiocytosis 30.1 SERPINA3 CD1E CD1C CD1B CD1A
9 skin melanoma 30.0 NRAS CCR6 BRAF
10 exophthalmos 30.0 CD1E CD1C CD1B CD1A
11 lymphoma 29.7 PIK3CA NRAS CCR7 CCR6 BRAF
12 dermatitis, atopic 29.5 SERPINA3 CCR7 CCR6 CCL4 CCL2
13 juvenile xanthogranuloma 29.4 SERPINA3 CD1E CD1B CD1A BRAF
14 meningioma, familial 28.9 SERPINA3 CD1E CD1C CD1B CD1A
15 rhinoscleroma 28.8 CD1E CD1C CD1B CD1A
16 granuloma annulare 28.7 CD1E CD1C CD1B CD1A
17 reticulohistiocytic granuloma 28.4 SERPINA3 CD1E CD1C CD1B CD1A
18 interdigitating dendritic cell sarcoma 28.4 SERPINA3 CD1E CD1C CD1B CD1A
19 histiocytic and dendritic cell cancer 28.4 SERPINA3 CD1E CD1C CD1B CD1A
20 atrioventricular septal defect 12.0
21 lipogranulomatosis 12.0
22 hemifacial atrophy, progressive 11.6
23 split-hand/foot malformation 1 11.4
24 diabetes insipidus 11.1
25 endosteal hyperostosis, autosomal dominant 11.0
26 retroperitoneal fibrosis 10.9
27 hemopericardium 10.9
28 pericardial effusion 10.9
29 lung disease 10.8
30 hydronephrosis 10.7
31 interstitial lung disease 10.7
32 rosai-dorfman disease 10.7
33 ataxia and polyneuropathy, adult-onset 10.7
34 cardiac tamponade 10.6
35 hypogonadism 10.6
36 pulmonary fibrosis 10.6
37 hypogonadotropism 10.6
38 bone disease 10.6
39 aceruloplasminemia 10.5
40 igg4-related disease 10.5
41 pericarditis 10.5
42 kidney disease 10.5
43 vasculitis 10.5
44 hypopituitarism 10.5
45 meningioma, radiation-induced 10.5
46 hyperprolactinemia 10.5
47 spinal meningioma 10.5
48 neutropenia 10.5
49 neurosarcoidosis 10.5
50 secretory meningioma 10.5

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:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
2 hyperhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000975
3 polydipsia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001959
4 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
5 fever 58 31 hallmark (90%) Very frequent (99-80%) HP:0001945
6 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
7 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
8 osteomyelitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002754
9 osteolysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002797
10 proptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000520
11 diabetes insipidus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000873
12 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
13 increased bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0011001
14 dysuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0100518
15 xanthelasma 58 31 hallmark (90%) Very frequent (99-80%) HP:0001114
16 hypogonadotrophic hypogonadism 31 hallmark (90%) HP:0000044
17 joint swelling 58 31 frequent (33%) Frequent (79-30%) HP:0001386
18 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
19 hydronephrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000126
20 retroperitoneal fibrosis 58 31 frequent (33%) Frequent (79-30%) HP:0005200
21 abnormal aortic valve morphology 31 frequent (33%) HP:0001646
22 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
23 nausea and vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002017
24 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
25 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
26 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
27 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
28 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
29 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
30 pulmonary fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002206
31 dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002094
32 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
33 skin rash 58 31 occasional (7.5%) Occasional (29-5%) HP:0000988
34 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
35 abnormal pericardium morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001697
36 cough 58 31 occasional (7.5%) Occasional (29-5%) HP:0012735
37 abnormal cerebellum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001317
38 pleural effusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0002202
39 interstitial pulmonary abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0006530
40 avascular necrosis 31 occasional (7.5%) HP:0010885
41 aseptic necrosis 58 Occasional (29-5%)
42 abnormality of the aortic valve 58 Frequent (79-30%)
43 abnormality of immune system physiology 58 Occasional (29-5%)
44 low gonadotropins (secondary hypogonadism) 58 Very frequent (99-80%)

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
Trametinib Approved Phase 2 871700-17-3 11707110
2
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
3
Dimethyl sulfoxide Approved, Vet_approved Phase 2 67-68-5 679
4
Lenalidomide Approved Phase 2 191732-72-6 216326
5 Mitogens Phase 2
6 Protein Kinase Inhibitors Phase 2
7 Free Radical Scavengers Phase 2
8 Antioxidants Phase 2
9 Protective Agents Phase 2
10 Angiogenesis Inhibitors Phase 2
11 Immunologic Factors Phase 2
12
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030 46835353
13
Cetuximab Approved Phase 1 205923-56-4 56842117 2333
14
Everolimus Approved Phase 1 159351-69-6 6442177 70789204
15
Bevacizumab Approved, Investigational Phase 1 216974-75-3
16
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
17
Valproic acid Approved, Investigational Phase 1 99-66-1 3121
18 Antibodies, Monoclonal Phase 1
19 Antineoplastic Agents, Immunological Phase 1
20 Tranquilizing Agents Phase 1
21 Endothelial Growth Factors Phase 1
22 Neurotransmitter Agents Phase 1
23 Anti-Infective Agents Phase 1
24 GABA Agents Phase 1
25 Antibiotics, Antitubercular Phase 1
26 Antifungal Agents Phase 1
27 Psychotropic Drugs Phase 1
28 Anti-Bacterial Agents Phase 1
29 Immunoglobulins Phase 1
30 Antimanic Agents Phase 1
31 Central Nervous System Depressants Phase 1
32 Immunoglobulin G Phase 1
33 Anticonvulsants Phase 1
34 Immunosuppressive Agents Phase 1
35 Antibodies Phase 1
36
Vemurafenib Approved 918504-65-1 23252090 42611257
37
Choline Approved, Nutraceutical 62-49-7 305
38 Gastrointestinal Agents
39 Hypolipidemic Agents
40 Nootropic Agents
41 Antimetabolites
42 Lipid Regulating Agents

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 A Phase II Therapeutic Trial of the Use of Dabrafenib and Trametinib in Patients With BRAF V600E Mutation Positive Lesions in Erdheim Chester Disease Completed NCT02281760 Phase 2 Dabrafenib Mesylate;Trametinib Dimethyl Sulfoxide
2 A Phase II Therapeutic Trial of the Use of Dabrafenib and Trametinib in Patients With BRAF V600 Mutation Positive Lesions in Erdheim Chester Disease Recruiting NCT03794297 Phase 2 Dabrafenib Mesylate;Trametinib Dimethyl Sulfoxide
3 A Phase II Study of Lenalidomide for Adult Histiocyte Disorders Active, not recruiting NCT02523040 Phase 2 Lenalidomide
4 A First-in-Human, Open Label, Phase I/II Study to Evaluate the Safety, Tolerability and Pharmacokinetics of HH2710 in Patients With Advanced Tumors Not yet recruiting NCT04198818 Phase 1, Phase 2 HH2710
5 A Phase 2 Study to Assess the Safety and Efficacy of Cobimetinib in Refractory Langerhans Cell Histiocytosis, LCH-Associated Neurodegenerative Disease, and Other Histiocytic Disorders. Not yet recruiting NCT04079179 Phase 2 Cobimetinib
6 Open-label, Single-arm, Phase II, Prospective, Pilot Study of Tocilizumab in Patients With Erdheim-Chester Disease Terminated NCT01727206 Phase 2 Tocilizumab
7 A Phase I Trial of Bevacizumab, Temsirolimus Alone and in Combination With Valproic Acid, or Cetuximab in Patients With Advanced Malignancy and Other Indications Recruiting NCT01552434 Phase 1 Temsirolimus;Valproic Acid
8 Long-term Outcome After Vemurafenib / BRAF Inhibitors Interruption in Erdheim-chester Disease Unknown status NCT02089724
9 Pilot Study to Determine Uptake and Biodistribution of 18F-fluorocholine in Histiocytic Disorders by PET Imaging and Biopsy Measurement Completed NCT02608619
10 Clinical and Pathophysiological Investigations Into Erdheim-Chester Disease Completed NCT01417520
11 Registry for Patients With Erdheim-Chester Disease Recruiting NCT03329274
12 A Study to Identify the Supportive Care Needs of Caregivers of Patients With Erdheim-Chester Disease and Other Histiocytic Diseases Recruiting NCT03990428
13 International Rare Histiocytic Disorders Registry (IRHDR) Recruiting NCT02285582
14 A Clinical, Structural, and Functional Neuroimaging Study of Cognition in Adults With Erdheim-Chester Disease, Langerhans Cell Histiocytosis, Rosai-Dorfman Disease, and Other Histiocytoses Recruiting NCT03127709
15 Biomarker for Farber Disease - An International, Multicenter, Epidemiological Protocol Recruiting NCT02298634
16 Observational and Cross-Sectional Cohort Study of the Natural History and Phenotypic Spectrum of Farber Disease Active, not recruiting NCT03233841

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:

40
Bone, Skin, Heart, Brain, Kidney, Pituitary, Eye

Publications for Erdheim-Chester Disease

Articles related to Erdheim-Chester Disease:

(show top 50) (show all 836)
# Title Authors PMID Year
1
Erdheim-Chester disease: expanding the spectrum of cutaneous manifestations. 61
31120137 2020
2
Unilateral leg edema: Erdheim-Chester disease. 61
31539068 2020
3
Exophthalmos and coated aorta in Erdheim-Chester disease. 61
32025736 2020
4
Erdheim-Chester disease: how a dermatologist can help to diagnose an extremely rare serious disorder. 61
31456240 2020
5
A rare differential for sinusitis and visual loss. 61
31538800 2020
6
Response to: 'Efficacy and improved tolerability of combination therapy with interleukin-1 blockade and MAPK pathway inhibitors for the treatment of Erdheim-Chester disease' by Campochiaro et al. 61
31959593 2020
7
Erdheim-Chester disease with concomitant Rosai-Dorfman like lesions: a distinct entity mainly driven by MAP2K1. 61
31123032 2020
8
Bone marrow findings in Erdheim-Chester disease: increased prevalence of chronic myeloid neoplasms. 61
31624111 2020
9
Clinicopathological features, treatment approaches, and outcomes in Rosai-Dorfman disease. 61
31004029 2020
10
Erdheim-Chester Disease. 61
31554755 2020
11
Neurologic and oncologic features of Erdheim-Chester disease: a 30-patient series. 61
31950179 2020
12
Malignant melanoma, papillary thyroid carcinoma and Erdheim-Chester disease, associated with both BRAFV600E and mosaic Turner syndrome. 61
31875997 2019
13
Cardiothoracic manifestations of Erdheim-Chester disease. 61
31386554 2019
14
Neuroimaging features of CNS histiocytosis syndromes. 61
31874337 2019
15
Corneal involvement due to Erdheim-Chester disease. 61
30528948 2019
16
Erdheim-Chester Disease: a Concise Review. 61
31807955 2019
17
Multisystemic Imaging Findings in Chinese Patients With Erdheim-Chester Disease. 61
31532257 2019
18
Choroidal mass as the first presentation of Erdheim-Chester disease. 61
31463417 2019
19
BRAF V600E mutations are not an oncogenic driver of solitary xanthogranuloma and reticulohistiocytoma: Testing may be useful in screening for Erdheim-Chester disease. 61
31639332 2019
20
Efficacy and improved tolerability of combination therapy with interleukin-1 blockade and MAPK pathway inhibitors for the treatment of Erdheim-Chester disease. 61
31818808 2019
21
Vemurafenib as first-line therapy in BRAF-V600E-mutant Erdheim-Chester disease with CNS involvement. 61
31748352 2019
22
BRAF V600E mutation in Juvenile Xanthogranuloma family neoplasms of the central nervous system (CNS-JXG): a revised diagnostic algorithm to include pediatric Erdheim-Chester disease. 61
31685033 2019
23
Autoimmunity associated with Erdheim-Chester disease improves with BRAF/MEK inhibitors. 61
30923093 2019
24
Real-World Toxicity Experience with BRAF/MEK Inhibitors in Patients with Erdheim-Chester Disease. 61
31740567 2019
25
Erdheim-Chester disease associated with chronic myelomonocytic leukemia harboring the same clonal mutation. 61
31221777 2019
26
Erdheim-Chester disease progression from miliary pulmonary nodules to large tumours. 61
31463063 2019
27
Adult Onset Xantogranulomatous Disease Associated with Vitiligo. 61
31807456 2019
28
Skull Base Manifestations of Erdheim-Chester Disease: A Case Series and Systematic Review. 61
30828728 2019
29
The Mayo Clinic Histiocytosis Working Group Consensus Statement for the Diagnosis and Evaluation of Adult Patients With Histiocytic Neoplasms: Erdheim-Chester Disease, Langerhans Cell Histiocytosis, and Rosai-Dorfman Disease. 61
31472931 2019
30
Thoracic Aortic Aneurysms and Erdheim-Chester Disease. 61
31182275 2019
31
Erdheim-Chester disease with bilateral choroidal infiltration. 61
31652361 2019
32
Cobimetinib-induced "dropped head syndrome" and subsequent disease management in an Erdheim-Chester patient. 61
31624624 2019
33
Concomitant Erdheim-Chester disease and chronic myelomonocytic leukaemia: genomic insights into a common clonal origin. 61
31475353 2019
34
Successful treatment of central nervous system involved Erdheim-Chester disease by intermediate-dose cytarabine as first-line therapy. 61
31559889 2019
35
Bone lesions in Erdheim-Chester disease. 61
31515064 2019
36
Diffuse, fracturing systemic skeletal histiocytosis of unknown type: a novel metabolic bone disease. 61
31147735 2019
37
[A rare disease; Erdheim-Chester disease presenting with spontaneous pneumothorax]. 61
31709955 2019
38
Shared cell of origin in a patient with Erdheim-Chester disease and acute myeloid leukemia. 61
30923101 2019
39
Getting to the heart of the matter in a multisystem disorder: Erdheim-Chester disease. 61
31423997 2019
40
Unusual Case of Recurrent Pericardial Effusion - Erdheim-Chester Disease. 61
30726803 2019
41
Bone Lesions in Erdheim-Chester Disease. 61
30688414 2019
42
Sirolimus monotherapy for Erdheim-Chester disease. 61
30919713 2019
43
A Rare Case of Soft Tissue Erdheim Chester Disease: Diagnostic Dilemma and Management. 61
31316663 2019
44
Molecular Profiling of Tumor Tissue and Plasma Cell-Free DNA from Patients with Non-Langerhans Cell Histiocytosis. 61
31015311 2019
45
3D culture of Erdheim-Chester disease tissues unveils histiocyte metabolism as a new therapeutic target. 61
30487147 2019
46
Effective High-dose Interferon-α Therapy in a 13-Year-Old Girl With Erdheim-Chester Disease. 61
31259822 2019
47
Pulmonary histiocytosis: beyond Langerhans cell histiocytosis related to smoking. 61
30686482 2019
48
Erdheim-Chester disease mimicking multiple sclerosis or a new association? 61
30743087 2019
49
Systemic Histiocytosis (Langerhans Cell Histiocytosis, Erdheim-Chester Disease, Destombes-Rosai-Dorfman Disease): from Oncogenic Mutations to Inflammatory Disorders. 61
31115724 2019
50
Erdheim-Chester Disease. 61
31054617 2019

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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.55 SERPINA3 PIK3CA NRAS CD1C CD1B CD1A
2
Show member pathways
13.05 PIK3CA NRAS CCR7 CCR6 CCL4 CCL2
3
Show member pathways
12.81 PIK3CA NRAS CCL4 CCL2 BRAF
4
Show member pathways
12.26 PIK3CA NRAS CCR7 CCR6 CCL4 CCL2
5
Show member pathways
12.04 CCR7 CCR6 CCL4 CCL2
6
Show member pathways
11.97 NRAS CCL2 BRAF
7
Show member pathways
11.93 PIK3CA NRAS BRAF
8 11.85 CD1E CD1C CD1B CD1A
9
Show member pathways
11.82 PIK3CA NRAS BRAF
10 11.8 CD1C CD1B CD1A
11 11.63 PIK3CA NRAS CCL2
12
Show member pathways
11.53 PIK3CA NRAS BRAF
13 11.45 CD1E CD1C CD1B CD1A
14 11.03 PIK3CA CD1E CD1C CD1B CD1A
15 11.01 PIK3CA BRAF
16 10.97 PIK3CA CCL2
17 10.92 PIK3CA BRAF
18 10.8 SERPINA3 CCL2

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 plasma membrane GO:0005886 9.81 PIK3CA NRAS CD1E CD1C CD1B CD1A
2 extracellular space GO:0005615 9.5 SERPINA3 CD1E CD1C CD1B CD1A CCL4
3 external side of plasma membrane GO:0009897 9.1 CD1E CD1C CD1B CD1A CCR7 CCR6

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.8 SERPINA3 CCR7 CCL4 CCL2
2 adaptive immune response GO:0002250 9.78 CD1E CD1C CD1B CD1A
3 immune response GO:0006955 9.76 CD1E CD1C CD1B CD1A CCR7 CCR6
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.71 CCR7 CCL4 CCL2 BRAF
5 negative regulation of neuron apoptotic process GO:0043524 9.7 PIK3CA CCL2 BRAF
6 chemotaxis GO:0006935 9.67 CCR7 CCR6 CCL4 CCL2
7 cell chemotaxis GO:0060326 9.63 CCR7 CCR6 CCL2
8 chemokine-mediated signaling pathway GO:0070098 9.62 CCR7 CCR6 CCL4 CCL2
9 positive regulation of T cell mediated cytotoxicity GO:0001916 9.56 CD1E CD1C CD1B CD1A
10 dendritic cell chemotaxis GO:0002407 9.51 CCR7 CCR6
11 positive regulation of dendritic cell chemotaxis GO:2000510 9.43 CCR7 CCR6
12 antigen processing and presentation, exogenous lipid antigen via MHC class Ib GO:0048007 9.26 CD1E CD1C CD1B CD1A
13 antigen processing and presentation, endogenous lipid antigen via MHC class Ib GO:0048006 8.92 CD1E CD1C CD1B CD1A

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

# Name GO ID Score Top Affiliating Genes
1 lipopeptide binding GO:0071723 9.46 CD1E CD1C CD1B CD1A
2 chemokine binding GO:0019956 9.4 CCR7 CCR6
3 C-C chemokine binding GO:0019957 9.37 CCR7 CCR6
4 C-C chemokine receptor activity GO:0016493 9.32 CCR7 CCR6
5 chemokine receptor activity GO:0004950 9.26 CCR7 CCR6
6 exogenous lipid antigen binding GO:0030884 9.26 CD1E CD1C CD1B CD1A
7 endogenous lipid antigen binding GO:0030883 8.92 CD1E CD1C CD1B CD1A

Sources for Erdheim-Chester Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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