ECD
MCID: ERD001
MIFTS: 57

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 77 54 26 60 45 15 17 74
Polyostotic Sclerosing Histiocytosis 26
Erdheim Chester Disease 54
Lipoid Granulomatosis 54
Lipid Granulomatosis 26
Ecd 54

Characteristics:

Orphanet epidemiological data:

60
erdheim-chester disease
Inheritance: Not applicable; Age of onset: Adult; Age of death: any age;

Classifications:



Summaries for Erdheim-Chester Disease

NIH Rare Diseases : 54 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 histiocytosis and 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 MAPK-Erk Pathway. The drugs Vemurafenib and Dabrafenib have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and brain, and related phenotypes are abnormality of epiphysis morphology and hyperhidrosis

Genetics Home Reference : 26 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 : 77 Erdheim–Chester disease (also known as Erdheim–Chester syndrome or polyostotic sclerosing histiocytosis)... 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 145)
# Related Disease Score Top Affiliating Genes
1 histiocytosis 31.3 BRAF CD1A SERPINA3
2 langerhans cell histiocytosis 31.1 BRAF CD1A NRAS
3 eosinophilic granuloma 30.9 BRAF CD1A
4 thyroid cancer 30.1 BRAF NRAS PIK3CA
5 lipogranulomatosis 12.1
6 atrioventricular septal defect 11.8
7 hemifacial atrophy, progressive 11.4
8 split-hand/foot malformation 1 11.3
9 hemopericardium 10.6
10 pericardial effusion 10.6
11 non-langerhans-cell histiocytosis 10.6
12 diabetes insipidus 10.6
13 interstitial lung disease 10.5
14 lung disease 10.5
15 lymphoma 10.5
16 exophthalmos 10.5
17 leukemia 10.4
18 cardiac tamponade 10.4
19 polycythemia vera 10.3
20 diabetes mellitus 10.3
21 igg4-related disease 10.3
22 lymphocytic leukemia 10.3
23 pericarditis 10.3
24 juvenile xanthogranuloma 10.3
25 polycythemia 10.3
26 vasculitis 10.3
27 burkitt lymphoma 10.2
28 multiple sclerosis 10.2
29 hashimoto thyroiditis 10.2
30 multiple system atrophy 1 10.2
31 thrombophilia due to thrombin defect 10.2
32 thyroid cancer, nonmedullary, 1 10.2
33 dermatitis, atopic 10.2
34 aceruloplasminemia 10.2
35 leukemia, acute lymphoblastic 10.2
36 bone mineral density quantitative trait locus 15 10.2
37 acute leukemia 10.2
38 acute lymphocytic leukemia 10.2
39 end stage renal failure 10.2
40 hematopoietic stem cell transplantation 10.2
41 hemophagocytic lymphohistiocytosis 10.2
42 hepatitis 10.2
43 thrombocytopenia 10.2
44 familial hemiplegic migraine 10.2
45 colitis 10.2
46 thrombosis 10.2
47 portal hypertension 10.2
48 hydronephrosis 10.2
49 rhinoscleroma 10.2
50 constrictive pericarditis 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:

60 33 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0005930
2 hyperhidrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000975
3 fever 60 33 hallmark (90%) Very frequent (99-80%) HP:0001945
4 polydipsia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001959
5 fatigue 60 33 hallmark (90%) Very frequent (99-80%) HP:0012378
6 weight loss 60 33 hallmark (90%) Very frequent (99-80%) HP:0001824
7 abnormality of the metaphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000944
8 diabetes insipidus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000873
9 osteomyelitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002754
10 bone pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0002653
11 increased bone mineral density 60 33 hallmark (90%) Very frequent (99-80%) HP:0011001
12 proptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000520
13 osteolysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002797
14 dysuria 60 33 hallmark (90%) Very frequent (99-80%) HP:0100518
15 xanthelasma 60 33 hallmark (90%) Very frequent (99-80%) HP:0001114
16 hypogonadotrophic hypogonadism 33 hallmark (90%) HP:0000044
17 joint swelling 60 33 frequent (33%) Frequent (79-30%) HP:0001386
18 abdominal pain 60 33 frequent (33%) Frequent (79-30%) HP:0002027
19 hydronephrosis 60 33 frequent (33%) Frequent (79-30%) HP:0000126
20 retroperitoneal fibrosis 60 33 frequent (33%) Frequent (79-30%) HP:0005200
21 abnormal aortic valve morphology 33 frequent (33%) HP:0001646
22 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
23 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
24 ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001251
25 dysarthria 60 33 occasional (7.5%) Occasional (29-5%) HP:0001260
26 hyperreflexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001347
27 nausea and vomiting 60 33 occasional (7.5%) Occasional (29-5%) HP:0002017
28 aseptic necrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0010885
29 visual impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000505
30 renal insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0000083
31 pulmonary fibrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002206
32 dyspnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002094
33 anemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001903
34 congestive heart failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0001635
35 skin rash 60 33 occasional (7.5%) Occasional (29-5%) HP:0000988
36 cough 60 33 occasional (7.5%) Occasional (29-5%) HP:0012735
37 pleural effusion 60 33 occasional (7.5%) Occasional (29-5%) HP:0002202
38 interstitial pulmonary abnormality 60 33 occasional (7.5%) Occasional (29-5%) HP:0006530
39 abnormal pericardium morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0001697
40 abnormal cerebellum morphology 33 occasional (7.5%) HP:0001317
41 abnormality of the aortic valve 60 Frequent (79-30%)
42 abnormality of immune system physiology 60 Occasional (29-5%)
43 abnormality of the cerebellum 60 Occasional (29-5%)
44 low gonadotropins (secondary hypogonadism) 60 Very frequent (99-80%)

MGI Mouse Phenotypes related to Erdheim-Chester Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.92 BRAF CCR5 NRAS PIK3CA

Drugs & Therapeutics for Erdheim-Chester Disease

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

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vemurafenib Approved Phase 2 918504-65-1 23252090 42611257
2
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
3
Dimethyl sulfoxide Approved, Vet_approved Phase 2 67-68-5 679
4
Trametinib Approved Phase 2 871700-17-3 11707110
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 Antioxidants Phase 2
9 Free Radical Scavengers Phase 2
10 Mitogens Phase 2,Phase 1
11 Protective Agents Phase 2
12 Antineoplastic Agents, Immunological Phase 2,Phase 1
13 Angiogenesis Inhibitors Phase 2,Phase 1
14 Angiogenesis Modulating Agents Phase 2,Phase 1
15 Immunologic Factors Phase 2,Phase 1
16
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
17
Sirolimus Approved, Investigational Phase 1 53123-88-9 46835353 6436030 5284616
18
Bevacizumab Approved, Investigational Phase 1 216974-75-3
19
Everolimus Approved Phase 1 159351-69-6 6442177 70789204
20
Valproic Acid Approved, Investigational Phase 1 99-66-1 3121
21 Anti-Infective Agents Phase 1
22 Psychotropic Drugs Phase 1
23 Antibodies, Monoclonal Phase 1
24 Neurotransmitter Agents Phase 1
25 Immunoglobulin G Phase 1
26 Immunosuppressive Agents Phase 1
27 Immunoglobulins Phase 1
28 Antimanic Agents Phase 1
29 Central Nervous System Depressants Phase 1
30 Anti-Bacterial Agents Phase 1
31 Tranquilizing Agents Phase 1
32 Anticonvulsants Phase 1
33 GABA Agents Phase 1
34 Antifungal Agents Phase 1
35 Antibodies Phase 1
36 Antibiotics, Antitubercular Phase 1
37 Endothelial Growth Factors Phase 1
38
Choline Approved, Nutraceutical 62-49-7 305
39 Antimetabolites
40 Hypolipidemic Agents
41 Lipid Regulating Agents
42 Nootropic Agents
43 Gastrointestinal 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 Long-term Outcome After Vemurafenib / BRAF Inhibitors Interruption in Erdheim-chester Disease Unknown status NCT02089724
8 Uptake and Biodistribution of 18F-fluorocholine in Histiocytic Disorders by PET Imaging and Biopsy Measurement Completed NCT02608619
9 Registry for Patients With Erdheim-Chester Disease Recruiting NCT03329274
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:

42
Bone, Skin, Brain, Heart, Kidney, Pituitary, Bone Marrow

Publications for Erdheim-Chester Disease

Articles related to Erdheim-Chester Disease:

(show top 50) (show all 563)
# Title Authors Year
1
Erdheim-Chester disease presenting as cardiac tamponade: features on multimodal imaging. ( 30796425 )
2019
2
Cardiovascular manifestations of Erdheim-Chester disease. ( 30569522 )
2019
3
Clinical and positron emission tomography responses to long-term high-dose interferon-α treatment among patients with Erdheim-Chester disease. ( 30630516 )
2019
4
Erdheim-Chester Disease with Chest Wall Involvement. ( 30630585 )
2019
5
Erdheim-Chester disease bone lesions after cobimetinib initiation. ( 30688414 )
2019
6
Unusual Case of Recurrent Pericardial Effusion - Erdheim-Chester Disease. ( 30726803 )
2019
7
Erdheim-Chester disease mimicking multiple sclerosis or a new association? ( 30743087 )
2019
8
Twelve Years of Follow-Up With Serial Cardiac Magnetic Resonance Scans in Erdheim-Chester Disease With Cardiovascular Involvement. ( 30803257 )
2019
9
Skull Base Manifestations of Erdheim-Chester Disease: A Case Series and Systematic Review. ( 30828728 )
2019
10
A Rare Case of Erdheim-Chester Disease (Non-Langerhans Cell Histiocytosis) with Concurrent Langerhans Cell Histiocytosis: A Diagnostic and Therapeutic Challenge. ( 29888013 )
2018
11
Neuroradiologic manifestations of Erdheim-Chester disease. ( 29517068 )
2018
12
The Hairy Kidney of Erdheim-Chester Disease. ( 29728208 )
2018
13
Thoracic involvement in Erdheim-Chester disease: computed tomography imaging findings and their association with the BRAF<sup>V600E</sup> mutation. ( 29736852 )
2018
14
Intracranial Erdheim-Chester Disease Mimicking Parafalcine Meningioma: Report of Two Cases and Review of the Literature. ( 29191545 )
2018
15
The fibrogenic chemokine CCL18 is associated with disease severity in Erdheim-Chester disease. ( 29900045 )
2018
16
Efficacy of infliximab in the treatment of Erdheim-Chester disease. ( 29363511 )
2018
17
Prognostic factors of Erdheim-Chester Disease: A nationwide survey in Japan. ( 29976744 )
2018
18
Abdominal involvement in Erdheim-Chester disease (ECD): MRI and CT imaging findings and their association with BRAF<sup>V600E</sup> mutation. ( 29556768 )
2018
19
FDG PET/CT Findings of Erdheim-Chester Disease: Radiologic Response to a Novel Treatment Regimen. ( 29485431 )
2018
20
Treating Heart Inflammation With Interleukin-1 Blockade in a Case of Erdheim-Chester Disease. ( 29910817 )
2018
21
Phenotypes and survival in Erdheim-Chester disease: Results from a 165-patient cohort. ( 29396850 )
2018
22
Erdheim-chester disease: Case report with testes involvement and review of literature. ( 29686965 )
2018
23
Detection of anti-neutrophil cytoplasmic and antinuclear autoantibodies favouring misdiagnoses in 5 cases of Erdheim-Chester disease. ( 29652657 )
2018
24
Hypoalphalipoproteinemia and <i>BRAF</i><sup>V600E</sup> Mutation Are Major Predictors of Aortic Infiltration in the Erdheim-Chester Disease. ( 29930009 )
2018
25
Significant response to dabrafenib in a patient with Erdheim-Chester disease with BRAFV600E mutation. ( 29968698 )
2018
26
Erdheim-Chester Disease and Palatal Tremor. ( 29145922 )
2018
27
Cutaneous manifestations of paediatric Erdheim-Chester disease, a histiocytosis of the 'L' group. ( 29357606 )
2018
28
An autopsy case report: Differences in radiological images correlate with histology in Erdheim-Chester disease. ( 29603831 )
2018
29
Adult leukoencephalopathies with prominent infratentorial involvement can be caused by Erdheim-Chester disease. ( 29204962 )
2018
30
Erdheim-Chester disease: description of two illustrative cases involving the lung. ( 29469219 )
2018
31
Erdheim-Chester Disease Presenting as an Anterior Mediastinal Tumor without Skeletal Involvement. ( 29854671 )
2018
32
Juvenile xanthogranuloma: A herald to the diagnosis of Erdheim-Chester disease in an adult with acute leukemia. ( 30117175 )
2018
33
Erdheim Chester disease in a patient with Burkitt lymphoma: a case report and review of literature. ( 30474563 )
2018
34
Central Diabetes Insipidus as an Early Presentation of Erdheim-Chester Disease. ( 30221876 )
2018
35
Resolved heart tamponade and controlled exophthalmos, facial pain and diabetes insipidus due to Erdheim-Chester disease. ( 30337283 )
2018
36
Erdheim-Chester disease with isolated neurological involvement. ( 29991848 )
2018
37
Erdheim-Chester disease diagnosed by 99mTc-MDP bone scintigraphy and brief literature review. ( 30006650 )
2018
38
Imaging findings in Erdheim-Chester disease: what every radiologist needs to know. ( 30038679 )
2018
39
Orbital and chorioretinal manifestations of Erdheim-Chester disease treated with vemurafenib. ( 30094395 )
2018
40
FDA Approval Summary: Vemurafenib for the Treatment of Patients with Erdheim-Chester Disease with the BRAFV600 Mutation. ( 30120160 )
2018
41
Superior efficacy and similar safety of double dose anakinra in Erdheim-Chester disease after single dose treatment. ( 30221042 )
2018
42
Dabrafenib and Trametinib Treatment for Erdheim-Chester Disease With Brain Stem Involvement. ( 30225465 )
2018
43
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
44
A case of Erdheim-Chester disease with spinal cord compression and sphenoid sinus involvement. ( 30274919 )
2018
45
Cladribine treatment for Erdheim-Chester disease involving the central nervous system and concomitant polycythemia vera: A case report. ( 30305475 )
2018
46
3D culture of Erdheim-Chester disease tissues unveils histiocyte metabolism as a new therapeutic target. ( 30487147 )
2018
47
Image Gallery: Cutaneous lesions of Erdheim-Chester disease treated with carbon dioxide laser therapy. ( 30508238 )
2018
48
Successful Treatment of Erdheim-Chester Disease With Coronary Artery Involvement. ( 30527170 )
2018
49
Corneal involvement due to Erdheim-Chester disease. ( 30528948 )
2018
50
Arterial involvement in Erdheim-Chester disease: A retrospective cohort study. ( 30544428 )
2018

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
13.69 BRAF CCR5 CD1A NRAS PIK3CA SERPINA3
2
Show member pathways
12.56 BRAF NRAS PIK3CA
3
Show member pathways
12.48 BRAF NRAS PIK3CA
4
Show member pathways
12.46 BRAF NRAS PIK3CA
5
Show member pathways
12.46 BRAF CCR5 NRAS PIK3CA
6
Show member pathways
12.43 BRAF CCR5 NRAS
7 12.37 BRAF NRAS PIK3CA
8
Show member pathways
12.32 BRAF NRAS PIK3CA
9
Show member pathways
12.26 BRAF NRAS PIK3CA
10
Show member pathways
12.23 BRAF NRAS PIK3CA
11
Show member pathways
12.14 CCR5 NRAS PIK3CA
12
Show member pathways
12.14 CCR5 NRAS PIK3CA
13
Show member pathways
12.09 BRAF NRAS PIK3CA
14 11.97 BRAF NRAS PIK3CA
15 11.96 CCR5 NRAS PIK3CA
16
Show member pathways
11.92 BRAF NRAS PIK3CA
17 11.76 CCR5 NRAS PIK3CA
18
Show member pathways
11.75 BRAF NRAS PIK3CA
19
Show member pathways
11.73 BRAF CCR5 NRAS PIK3CA
20
Show member pathways
11.57 BRAF NRAS PIK3CA
21 11.53 BRAF NRAS
22 11.48 BRAF PIK3CA
23 11.46 NRAS PIK3CA
24
Show member pathways
11.45 BRAF NRAS
25 11.41 BRAF NRAS
26 11.36 BRAF PIK3CA
27 11.28 CCR5 NRAS PIK3CA
28 11.24 BRAF NRAS
29 11.12 BRAF NRAS PIK3CA
30 11.11 BRAF NRAS
31
Show member pathways
11.11 BRAF CCR5 NRAS PIK3CA
32
Show member pathways
11.05 BRAF NRAS PIK3CA
33 11.02 NRAS PIK3CA
34 10.96 BRAF PIK3CA
35 10.87 BRAF PIK3CA

GO Terms for Erdheim-Chester Disease

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

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.43 BRAF CCR5 NRAS
2 positive regulation of T cell mediated cytotoxicity GO:0001916 9.16 CD1A CD1E
3 antigen processing and presentation, exogenous lipid antigen via MHC class Ib GO:0048007 8.96 CD1A CD1E
4 antigen processing and presentation, endogenous lipid antigen via MHC class Ib GO:0048006 8.62 CD1A CD1E

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 9.16 CD1A CD1E
2 endogenous lipid antigen binding GO:0030883 8.96 CD1A CD1E
3 exogenous lipid antigen binding GO:0030884 8.62 CD1A CD1E

Sources for Erdheim-Chester Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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