MCID: ERD001
MIFTS: 55

Erdheim-Chester Disease

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 MAPK-Erk Pathway and Ras signaling pathway. The drugs Vemurafenib and Dimethyl sulfoxide have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and skin, 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 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 170)
# 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 30.0 BRAF NRAS PIK3CA
5 lipogranulomatosis 12.1
6 atrioventricular septal defect 11.9
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 10.5
12 diabetes insipidus 10.5
13 interstitial lung disease 10.5
14 lung disease 10.5
15 leukemia 10.5
16 lymphoma 10.5
17 cardiac tamponade 10.5
18 exophthalmos 10.5
19 polycythemia vera 10.3
20 meningioma, familial 10.3
21 acute lymphocytic leukemia 10.3
22 diabetes mellitus 10.3
23 igg4-related disease 10.3
24 lymphocytic leukemia 10.3
25 spinal meningioma 10.3
26 pericarditis 10.3
27 juvenile xanthogranuloma 10.3
28 secretory meningioma 10.3
29 polycythemia 10.3
30 vasculitis 10.3
31 burkitt lymphoma 10.2
32 multiple sclerosis 10.2
33 hashimoto thyroiditis 10.2
34 multiple system atrophy 1 10.2
35 thrombophilia due to thrombin defect 10.2
36 thyroid cancer, nonmedullary, 1 10.2
37 ataxia and polyneuropathy, adult-onset 10.2
38 leukemia, acute myeloid 10.2
39 dermatitis, atopic 10.2
40 aceruloplasminemia 10.2
41 leukemia, acute lymphoblastic 10.2
42 bone mineral density quantitative trait locus 15 10.2
43 acute leukemia 10.2
44 end stage renal failure 10.2
45 hematopoietic stem cell transplantation 10.2
46 hemophagocytic lymphohistiocytosis 10.2
47 hepatitis 10.2
48 joint disorders 10.2
49 liver cirrhosis 10.2
50 marginal zone b-cell lymphoma 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 45)
# 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 visual impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000505
29 renal insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0000083
30 pulmonary fibrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002206
31 dyspnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002094
32 anemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001903
33 congestive heart failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0001635
34 skin rash 60 33 occasional (7.5%) Occasional (29-5%) HP:0000988
35 cough 60 33 occasional (7.5%) Occasional (29-5%) HP:0012735
36 pleural effusion 60 33 occasional (7.5%) Occasional (29-5%) HP:0002202
37 interstitial pulmonary abnormality 60 33 occasional (7.5%) Occasional (29-5%) HP:0006530
38 abnormal pericardium morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0001697
39 abnormal cerebellum morphology 33 occasional (7.5%) HP:0001317
40 avascular necrosis 33 occasional (7.5%) HP:0010885
41 aseptic necrosis 60 Occasional (29-5%)
42 abnormality of the aortic valve 60 Frequent (79-30%)
43 abnormality of immune system physiology 60 Occasional (29-5%)
44 abnormality of the cerebellum 60 Occasional (29-5%)
45 low gonadotropins (secondary hypogonadism) 60 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 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vemurafenib Approved Phase 2 918504-65-1 23252090 42611257
2
Dimethyl sulfoxide Approved, Vet_approved Phase 2 67-68-5 679
3
Trametinib Approved Phase 2 871700-17-3 11707110
4
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
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 Modulating Agents Phase 2,Phase 1
14 Immunologic Factors Phase 2,Phase 1
15 Angiogenesis Inhibitors Phase 2,Phase 1
16
Sirolimus Approved, Investigational Phase 1 53123-88-9 46835353 5284616 6436030
17
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
18
Everolimus Approved Phase 1 159351-69-6 70789204 6442177
19
Bevacizumab Approved, Investigational Phase 1 216974-75-3
20
Valproic Acid Approved, Investigational Phase 1 99-66-1 3121
21 Central Nervous System Depressants Phase 1
22 Anticonvulsants Phase 1
23 Immunoglobulin G Phase 1
24 Immunosuppressive Agents Phase 1
25 Tranquilizing Agents Phase 1
26 Antibodies Phase 1
27 Psychotropic Drugs Phase 1
28 Antimanic Agents Phase 1
29 Antibodies, Monoclonal Phase 1
30 Anti-Infective Agents Phase 1
31 Antifungal Agents Phase 1
32 Immunoglobulins Phase 1
33 Neurotransmitter Agents Phase 1
34 Endothelial Growth Factors Phase 1
35 Anti-Bacterial Agents Phase 1
36 Antibiotics, Antitubercular Phase 1
37 GABA Agents Phase 1
38
Choline Approved, Nutraceutical 62-49-7 305
39 Gastrointestinal Agents
40 Antimetabolites
41 Nootropic Agents
42 Hypolipidemic Agents
43 Lipid Regulating 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 (BioFarber) 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, Brain, Skin, Lung, Heart, Kidney, Pituitary

Publications for Erdheim-Chester Disease

Articles related to Erdheim-Chester Disease:

(show top 50) (show all 571)
# Title Authors Year
1
Erdheim-Chester disease presenting as cardiac tamponade: features on multimodal imaging. ( 30796425 )
2019
2
3D culture of Erdheim-Chester disease tissues unveils histiocyte metabolism as a new therapeutic target. ( 30487147 )
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 scale for patient-reported symptom assessment for patients with Erdheim-Chester disease. ( 30917949 )
2019
11
Sirolimus monotherapy for Erdheim-Chester disease. ( 30919713 )
2019
12
Autoimmunity associated with Erdheim-Chester disease improves with BRAF/MEK inhibitors. ( 30923093 )
2019
13
Shared cell of origin in a patient with Erdheim Chester disease and acute myeloid leukemia. ( 30923101 )
2019
14
A new role for fluorine-18-fluorodeoxyglucose positron-emission tomography/computed tomography in Erdheim-Chester disease. ( 31040758 )
2019
15
Erdheim-Chester Disease. ( 31054617 )
2019
16
Juvenile xanthogranuloma: A herald to the diagnosis of Erdheim-Chester disease in an adult with acute leukemia. ( 30117175 )
2018
17
Erdheim Chester disease in a patient with Burkitt lymphoma: a case report and review of literature. ( 30474563 )
2018
18
Central Diabetes Insipidus as an Early Presentation of Erdheim-Chester Disease. ( 30221876 )
2018
19
Resolved heart tamponade and controlled exophthalmos, facial pain and diabetes insipidus due to Erdheim-Chester disease. ( 30337283 )
2018
20
Spinal epidural involvement in Erdheim-Chester disease: 18F-FDG PET/CT findings. ( 28610870 )
2018
21
Misdiagnosis: CNS Erdheim-Chester disease mimicking CLIPPERS. ( 28685649 )
2018
22
Efficacy of intermediate-dose cytarabine in central nervous system-relapsed wild-type BRAF Erdheim-Chester disease. ( 28831599 )
2018
23
Langerhans cell histiocytosis and Erdheim-Chester disease overlap syndrome with bone marrow involvement and type 2 diabetes mellitus. ( 28889238 )
2018
24
Efficacy of biological agents in the treatment of Erdheim-Chester disease. ( 29082516 )
2018
25
18F-FDG PET/CT in Erdheim-Chester Disease: Imaging Findings and Potential BRAF Mutation Biomarker. ( 29097410 )
2018
26
Spontaneous Bilateral Pneumothoraces in Erdheim-Chester Disease. ( 29132763 )
2018
27
Erdheim-Chester Disease and Palatal Tremor. ( 29145922 )
2018
28
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 )
2018
29
Intracranial Erdheim-Chester Disease Mimicking Parafalcine Meningioma: Report of Two Cases and Review of the Literature. ( 29191545 )
2018
30
The histopathology of Erdheim-Chester disease: a comprehensive review of a molecularly characterized cohort. ( 29192649 )
2018
31
Adult leukoencephalopathies with prominent infratentorial involvement can be caused by Erdheim-Chester disease. ( 29204962 )
2018
32
Erdheim-Chester Disease Involving Lymph Nodes and Liver Clinically Mimicking Lymphoma: A Case Report. ( 29281781 )
2018
33
Cutaneous manifestations of paediatric Erdheim-Chester disease, a histiocytosis of the 'L' group. ( 29357606 )
2018
34
Efficacy of infliximab in the treatment of Erdheim-Chester disease. ( 29363511 )
2018
35
Phenotypes and survival in Erdheim-Chester disease: Results from a 165-patient cohort. ( 29396850 )
2018
36
Erdheim-Chester disease: description of two illustrative cases involving the lung. ( 29469219 )
2018
37
FDG PET/CT Findings of Erdheim-Chester Disease: Radiologic Response to a Novel Treatment Regimen. ( 29485431 )
2018
38
Neuroradiologic manifestations of Erdheim-Chester disease. ( 29517068 )
2018
39
Abdominal involvement in Erdheim-Chester disease (ECD): MRI and CT imaging findings and their association with BRAFV600E mutation. ( 29556768 )
2018
40
An autopsy case report: Differences in radiological images correlate with histology in Erdheim-Chester disease. ( 29603831 )
2018
41
Detection of anti-neutrophil cytoplasmic and antinuclear autoantibodies favouring misdiagnoses in 5 cases of Erdheim-Chester disease. ( 29652657 )
2018
42
Erdheim-chester disease: Case report with testes involvement and review of literature. ( 29686965 )
2018
43
The Hairy Kidney of Erdheim-Chester Disease. ( 29728208 )
2018
44
Thoracic involvement in Erdheim-Chester disease: computed tomography imaging findings and their association with the BRAFV600E mutation. ( 29736852 )
2018
45
Erdheim-Chester Disease Presenting as an Anterior Mediastinal Tumor without Skeletal Involvement. ( 29854671 )
2018
46
A Rare Case of Erdheim-Chester Disease (Non-Langerhans Cell Histiocytosis) with Concurrent Langerhans Cell Histiocytosis: A Diagnostic and Therapeutic Challenge. ( 29888013 )
2018
47
The fibrogenic chemokine CCL18 is associated with disease severity in Erdheim-Chester disease. ( 29900045 )
2018
48
Treating Heart Inflammation With Interleukin-1 Blockade in a Case of Erdheim-Chester Disease. ( 29910817 )
2018
49
Hypoalphalipoproteinemia and BRAFV600E Mutation Are Major Predictors of Aortic Infiltration in the Erdheim-Chester Disease. ( 29930009 )
2018
50
Significant response to dabrafenib in a patient with Erdheim-Chester disease with BRAFV600E mutation. ( 29968698 )
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 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.54 BRAF NRAS PIK3CA
2
Show member pathways
12.45 BRAF NRAS PIK3CA
3
Show member pathways
12.43 BRAF NRAS PIK3CA
4
Show member pathways
12.38 BRAF CCR7 NRAS PIK3CA
5 12.34 BRAF NRAS PIK3CA
6
Show member pathways
12.28 BRAF NRAS PIK3CA
7
Show member pathways
12.25 BRAF NRAS PIK3CA
8
Show member pathways
12.22 BRAF NRAS PIK3CA
9
Show member pathways
12.2 BRAF NRAS PIK3CA
10
Show member pathways
12.03 BRAF NRAS PIK3CA
11 11.88 BRAF NRAS PIK3CA
12
Show member pathways
11.87 BRAF NRAS PIK3CA
13
Show member pathways
11.83 BRAF NRAS PIK3CA
14
Show member pathways
11.64 BRAF NRAS PIK3CA
15
Show member pathways
11.56 BRAF CCR7 NRAS PIK3CA
16 11.5 BRAF NRAS
17 11.46 BRAF PIK3CA
18 11.43 NRAS PIK3CA
19
Show member pathways
11.42 BRAF NRAS
20 11.38 BRAF NRAS
21 11.32 BRAF PIK3CA
22
Show member pathways
11.27 BRAF NRAS PIK3CA
23 11.21 BRAF NRAS
24 11.08 BRAF NRAS PIK3CA
25 11.07 BRAF NRAS
26 10.97 NRAS PIK3CA
27 10.89 BRAF PIK3CA
28 10.79 BRAF PIK3CA
29
Show member pathways
10.72 BRAF NRAS 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 positive regulation of T cell mediated cytotoxicity GO:0001916 9.16 CD1A CD1E
2 antigen processing and presentation, exogenous lipid antigen via MHC class Ib GO:0048007 8.96 CD1A CD1E
3 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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