ECD
MCID: ERD001
MIFTS: 52

Erdheim-Chester Disease (ECD) malady

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

Aliases & Classifications for Erdheim-Chester Disease

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Sources:
11Disease Ontology, 13DISEASES, 25Genetics Home Reference, 31ICD10 via Orphanet, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Erdheim-Chester Disease:

Name: Erdheim-Chester Disease 11 48 25 54 39 13 68
Polyostotic Sclerosing Histiocytosis 25
Erdheim Chester Disease 48
 
Lipoid Granulomatosis 48
Lipid Granulomatosis 25
Ecd 48

Characteristics:

Orphanet epidemiological data:

54
erdheim-chester disease:
Inheritance: Not applicable; Age of onset: Adult; Age of death: any age

Classifications:



External Ids:

Disease Ontology11 DOID:4329
MeSH39 D031249
NCIt45 C53972
Orphanet54 ORPHA35687
UMLS via Orphanet69 C0878675
ICD10 via Orphanet31 D76.3
MESH via Orphanet40 D031249

Summaries for Erdheim-Chester Disease

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NIH Rare Diseases:48 Erdheim-chester disease is a rare condition that can affect many different organs of the body. this condition, which usually affects adults, is characterized by excessive production and accumulation of histiocytes (specific cells that normally play a role in responding to infection and injury) within multiple tissues and organs. as a result, these tissues and organs become thickened, dense and fibrotic. sites of involvement may include the long bones, skin, tissues behind the eyeballs, lungs, brain, and pituitary gland, among others. signs and symptoms, as well as disease course, depend on the specific location and extent of involvement. without successful treatment, organ failure can occur. last updated: 3/2/2010

MalaCards based summary: Erdheim-Chester Disease, also known as polyostotic sclerosing histiocytosis, is related to lipogranulomatosis and hemifacial atrophy, progressive, and has symptoms including Array, Array and Array. An important gene associated with Erdheim-Chester Disease is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways are Negative regulation of MAPK pathway and BDNF-TrkB Signaling. Affiliated tissues include bone, skin and brain, and related mouse phenotypes are Decreased viability and immune system.

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:71 Erdheim–Chester disease (also known as Erdheim–Chester syndrome or polyostotic sclerosing... more...

Related Diseases for Erdheim-Chester Disease

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Diseases related to Erdheim-Chester Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 83)
idRelated DiseaseScoreTop Affiliating Genes
1lipogranulomatosis11.2
2hemifacial atrophy, progressive10.9
3atrioventricular septal defect10.8
4histiocytosis10.7
5cerebritis10.4
6pericardial effusion10.3
7non-langerhans-cell histiocytosis10.2
8diabetes insipidus10.2
9eosinophilic granuloma10.2
10pseudomonas stutzeri infections10.2BRAF, NRAS
11rdh12-related leber congenital amaurosis10.2BRAF, NRAS
12interstitial lung disease10.2
13thyroiditis10.2
14lung disease10.2
15exophthalmos10.2
16acute disseminated encephalomyelitis10.1BRAF, NRAS
17melanocytic nevus syndrome, congenital, somatic10.1NRAS, PIK3CA
18lung mucoepidermoid carcinoma10.1BRAF, NRAS
19urethral cancer10.1PIK3CA, SERPINA3
20leukemia10.1
21lymphoma10.1
22pericarditis10.1
23vasculitis10.1
24igg4-related disease10.1
25ataxia10.1
26spongiotic dermatitis10.1NRAS, PIK3CA
27uterine disease10.1PIK3CA, SERPINA3
28muscular dystrophy-dystroglycanopathy , type a, 1010.0BRAF, NRAS, PIK3CA
29intestinal benign neoplasm10.0PIK3CA, SERPINA3
30peritoneal mesothelioma9.9BRAF, NRAS, PIK3CA
31alternating exotropia9.9CCL2, SERPINA3
32acute necrotizing encephalitis9.9CCL2, PIK3CA
33hashimoto thyroiditis9.9
34cerebellar ataxia9.9
35multiple system atrophy9.9
36acute lymphocytic leukemia9.9
37atherosclerosis9.9
38end stage renal failure9.9
39hematopoietic stem cell transplantation9.9
40hemophagocytic lymphohistiocytosis9.9
41hepatitis9.9
42thrombocytopenia9.9
43familial hemiplegic migraine9.9
44thrombosis9.9
45lymphoblastic leukemia9.9
46portal hypertension9.9
47hydronephrosis9.9
48rhinoscleroma9.9
49choroiditis9.9
50constrictive pericarditis9.9

Graphical network of the top 20 diseases related to Erdheim-Chester Disease:



Diseases related to erdheim-chester disease

Symptoms & Phenotypes for Erdheim-Chester Disease

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Human phenotypes related to Erdheim-Chester Disease:

 54 64 (show all 43)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency64 54 Occasional (29-5%) HP:0000083
2 hydronephrosis64 54 Frequent (79-30%) HP:0000126
3 visual impairment64 54 Occasional (29-5%) HP:0000505
4 ptosis64 54 Occasional (29-5%) HP:0000508
5 proptosis64 54 Very frequent (99-80%) HP:0000520
6 nystagmus64 54 Occasional (29-5%) HP:0000639
7 diabetes insipidus64 54 Very frequent (99-80%) HP:0000873
8 abnormality of the metaphyses64 54 Very frequent (99-80%) HP:0000944
9 hyperhidrosis64 54 Very frequent (99-80%) HP:0000975
10 skin rash64 54 Occasional (29-5%) HP:0000988
11 xanthelasma64 54 Very frequent (99-80%) HP:0001114
12 ataxia64 54 Occasional (29-5%) HP:0001251
13 dysarthria64 54 Occasional (29-5%) HP:0001260
14 abnormality of the cerebellum54 Occasional (29-5%)
15 hyperreflexia64 54 Occasional (29-5%) HP:0001347
16 joint swelling64 54 Frequent (79-30%) HP:0001386
17 congestive heart failure64 54 Occasional (29-5%) HP:0001635
18 abnormality of the aortic valve64 54 Frequent (79-30%) HP:0001646
19 abnormality of the pericardium64 54 Occasional (29-5%) HP:0001697
20 weight loss64 54 Very frequent (99-80%) HP:0001824
21 anemia64 54 Occasional (29-5%) HP:0001903
22 fever64 54 Very frequent (99-80%) HP:0001945
23 polydipsia64 54 Very frequent (99-80%) HP:0001959
24 nausea and vomiting64 54 Occasional (29-5%) HP:0002017
25 abdominal pain64 54 Frequent (79-30%) HP:0002027
26 dyspnea64 54 Occasional (29-5%) HP:0002094
27 pleural effusion64 54 Occasional (29-5%) HP:0002202
28 pulmonary fibrosis64 54 Occasional (29-5%) HP:0002206
29 bone pain64 54 Very frequent (99-80%) HP:0002653
30 osteomyelitis64 54 Very frequent (99-80%) HP:0002754
31 osteolysis64 54 Very frequent (99-80%) HP:0002797
32 low gonadotropins (secondary hypogonadism)54 Very frequent (99-80%)
33 retroperitoneal fibrosis64 54 Frequent (79-30%) HP:0005200
34 abnormality of epiphysis morphology64 54 Very frequent (99-80%) HP:0005930
35 interstitial pulmonary disease54 Occasional (29-5%)
36 aseptic necrosis64 54 Occasional (29-5%) HP:0010885
37 abnormality of immune system physiology54 Occasional (29-5%)
38 increased bone mineral density64 54 Very frequent (99-80%) HP:0011001
39 fatigue64 54 Very frequent (99-80%) HP:0012378
40 cough64 54 Occasional (29-5%) HP:0012735
41 dysuria64 54 Very frequent (99-80%) HP:0100518
42 hypogonadotrophic hypogonadism64 HP:0000044
43 interstitial pulmonary abnormality64 HP:0006530

GenomeRNAi Phenotypes related to Erdheim-Chester Disease according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00381-A-16.7BRAF, CCL2, PIK3CA, PRKG1, CCL2, NRAS

MGI Mouse Phenotypes related to Erdheim-Chester Disease according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053877.3BRAF, CCL2, CCR3, NRAS, PIK3CA, PRKG1

Drugs & Therapeutics for Erdheim-Chester Disease

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

(show all 19)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LenalidomideapprovedPhase 2736191732-72-6216326
Synonyms:
1-oxo-2-(2,6-Dioxopiperidin-3-yl)-4-aminoisoindoline
191732-72-6
3-(4-Amino-1-oxo-1,3-dihydro-2H-isoindol-2-yl)piperidine-2,6-dione
3-(4-Amino-1-oxoisoindolin-2-yl)piperidine-2,6-dione
3-(7-Amino-3-oxo-1H-isoindol-2-yl)-piperidine-2,6-dione
3-(7-amino-3-oxo-1H-isoindol-2-yl)piperidine-2,6-dione
346670-73-3
443912-14-9
AC-914
AC1L50II
AKOS005146276
ALBB-015321
Bio-0168
C467567
CC 5013
CC-5013
CC-5013, Revlimid, Lenalidomide
CC5013
CDC 501
CDC-501
CDC-5013
CHEMBL848
CID216326
Celgene brand of lenalidomide
D04687
 
DB00480
EC-000.2340
ENMD-0997
I06-0831
IMID-1
IMID-5013
IMiD3
IMiD3 cpd
IMid-1
LS-184040
Lenalidomide
Lenalidomide (USAN/INN)
Lenalidomide [USAN]
MolPort-003-848-370
NCGC00167491-01
NSC747972
Revamid
Revimid
Revlimid
Revlimid (Celgene)
Revlimid (TN)
S1029_Selleck
STK639603
Thalidomide analog CC-5013
UNII-F0P408N6V4
lenalidomide
2
TrametinibapprovedPhase 2131871700-17-311707110
Synonyms:
GSK 1120212
GSK1120212
JTP 74057
JTP-74057
 
MEK Inhibitor GSK1120212
Mekinist
Trametinib Dimethyl Sulfoxide
Trametinibum
trametinib
3
DabrafenibapprovedPhase 28444462760, 44516822
Synonyms:
BRAF inhibitor GSK2118436
Dabrafenib
 
GSK2118436
GSK2118436a
Tafinlar
dabrafenib
4
Dimethyl sulfoxideapproved, vet_approvedPhase 23467-68-5679
Synonyms:
(CH3)2SO
(methylsulfinyl)methane
DMSO
Dimethyl sulfoxide
Dimethyl sulfoxixde
Dimethyl sulfur oxide
Dimethyl sulphoxide
 
Dimethyl sulpoxide
Dimethyli sulfoxidum
Dimethylsulfoxid
Dimethylsulfoxyde
Dimetil sulfoxido
Methylsulfinylmethane
S(O)Me2
Sulfinylbis(methane)
5Angiogenesis InhibitorsPhase 24257
6Immunosuppressive AgentsPhase 213086
7Angiogenesis Modulating AgentsPhase 24185
8Anti-Bacterial AgentsPhase 211226
9Anti-Infective AgentsPhase 222062
10Protein Kinase InhibitorsPhase 23689
11MitogensPhase 21617
12AntioxidantsPhase 23050
13Protective AgentsPhase 27443
14
Cholineapproved, nutraceutical15462-49-7305
Synonyms:
(2-Hydroxyethyl)trimethyl ammonium
(2-Hydroxyethyl)trimethylammonium
(beta-hydroxyethyl)trimethylammonium
2-Hydroxy-N,N,N-trimethyl-ethanaminium
2-Hydroxy-N,N,N-trimethylethanaminium
Bilineurine
Biocolina
Biocoline
Choline
Choline cation
 
Choline ion
Cholinum
Hepacholine
Hormocline
Lipotril
N,N,N-Trimethylethanol-ammonium
N,N,N-Trimethylethanolammonium
N,N,N-trimethylethanol-ammonium
N-trimethylethanolamine
Neocolina
Paresan
trimethylethanolamine
15Nootropic Agents716
16Lipid Regulating Agents2766
17Hypolipidemic Agents2785
18Gastrointestinal Agents8402
19Antimetabolites12054

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Study of Lenalidomide for Adult Histiocyte DisordersRecruitingNCT02523040Phase 2
2Dabrafenib and Trametinib in People With BRAF V600E Mutation Positive Lesions in Erdheim Chester DiseaseSuspendedNCT02281760Phase 2
3Pilot Study of Tocilizumab in Patients With Erdheim-Chester DiseaseTerminatedNCT01727206Phase 2
4Long-term Outcome After Vemurafenib / BRAF Inhibitors Interruption in Erdheim-chester DiseaseRecruitingNCT02089724
5Clinical and Basic Investigations Into Erdheim Chester DiseaseRecruitingNCT01417520
6A Study of Memory, Thinking, and Brain Imaging in Adults With HistiocytosisRecruitingNCT03127709
7Biomarker for Farber DiseaseRecruitingNCT02298634
8Uptake and Biodistribution of 18F-fluorocholine in Histiocytic Disorders by PET Imaging and Biopsy MeasurementRecruitingNCT02608619
9International Rare Histiocytic Disorders Registry (IRHDR)RecruitingNCT02285582

Search NIH Clinical Center for Erdheim-Chester Disease


Cochrane evidence based reviews: erdheim-chester disease

Genetic Tests for Erdheim-Chester Disease

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Anatomical Context for Erdheim-Chester Disease

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MalaCards organs/tissues related to Erdheim-Chester Disease:

36
Bone, Skin, Brain, Lung, Pituitary, Bone marrow, Breast

Publications for Erdheim-Chester Disease

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Articles related to Erdheim-Chester Disease:

(show top 50)    (show all 445)
idTitleAuthorsYear
1
A rare case of Erdheim-Chester disease in the breast. (28151461)
2017
2
18F-FDG PET/CT in Erdheim-Chester disease. (28364162)
2017
3
Effective BRAF inhibitor vemurafenib therapy in a 2-year-old patient with sequentially diagnosed Langerhans cell histiocytosis and Erdheim-Chester disease. (28182116)
2017
4
Vemurafenib (BRAF Inhibitor) Therapy for Orbital Erdheim-Chester Disease. (28099231)
2017
5
Hematopoietic origin of Langerhans cell histiocytosis and Erdheim Chester disease in adults. (28512190)
2017
6
Pediatric Erdheim-Chester disease with aggressive skin manifestations. (28078666)
2017
7
Erdheim-Chester disease, moving away from the orphan diseases: A case report. (27995058)
2017
8
Neurological manifestation of Erdheim Chester disease: A series of 3 patients. (28290409)
2017
9
Combination of adalimumab with lower dose of methylprednisolone in Erdheim-Chester disease with systemic involvement. (28080175)
2017
10
The Imaging Findings of Erdheim-Chester Disease: A Multimodality Approach to Diagnosis and Staging. (28217025)
2017
11
A cytologic diagnosis of BRAF(V600E) Erdheim-Chester disease on pericardial fluid. (28222655)
2017
12
Three Cases of Erdheim-Chester Disease With Intraocular Manifestations: Imaging and Histopathology Findings of a Rare Entity. (28153505)
2017
13
Erdheim-Chester disease with isolated skeletal involvement in patient with odontalgia. (28473220)
2017
14
Erdheim-Chester disease associated with a novel, complex BRAF p.Thr599_Val600delinsArgGlu mutation. (28455460)
2017
15
Erdheim-Chester disease with unusual clinicopathological features complicated by DRESS syndrome, disseminated Cytomegalovirus infection and hemophagocytic lymphohistiocytosis. (28418177)
2017
16
Clinical and Radiologic Responses to Cladribine for the Treatment of Erdheim-Chester Disease. (28253394)
2017
17
An unusual thoracic localizations of Erdheim- Chester disease: A case report. (28149747)
2017
18
Erdheim-Chester Disease with Emperipolesis: A Unique Case Involving the Heart. (27488869)
2016
19
Erdheim-Chester Disease: A Rare Presentation of a Rare Disease. (27606325)
2016
20
Histopathological and Clinical Findings in Cutaneous Manifestation of Erdheim-Chester Disease and Langerhans Cell Histiocytosis Overlap Syndrome Associated With the BRAFV600E Mutation. (27898473)
2016
21
Diverse cutaneous manifestations of Erdheim-Chester disease in a woman with a history of Langerhans cell histiocytosis. (27051852)
2016
22
Erdheim-Chester disease (ECD): Case report, clinical and basic investigations, and review of literature. (27759649)
2016
23
Anakinra as efficacious therapy for two cases of intracranial Erdheim-Chester disease. (27535996)
2016
24
Efficacy of zoledronic acid in Erdheim-Chester disease: A case report. (26987264)
2016
25
Successful treatment with cladribine of Erdheim-Chester disease with orbital and central nervous system involvement developing after treatment of Langerhans cell histiocytosis. (26964390)
2016
26
The First Reported Case of Erdheim-Chester Disease in Egypt with Bilateral Exophthalmos, Loss of Vision, and Multi-Organ Involvement in a Young Woman. (27237445)
2016
27
Unusual presentation of Erdheim-Chester disease in a child with acute lymphoblastic leukemia. (27648170)
2016
28
Erdheim-Chester Disease Presenting as a Solid Renal Mass. (27793652)
2016
29
Efficacy of the MEK inhibitor cobimetinib for wild-type BRAF Erdheim-Chester disease. (27711968)
2016
30
Variability in the efficacy of the IL1 receptor antagonist anakinra for treating Erdheim-Chester disease. (26847247)
2016
31
Erdheim-Chester Disease: An Unusual Cause of Intracranial Vasculitis and Progressive Leukoencephalopathy. (26996751)
2016
32
BRAF Mutations in Erdheim-Chester Disease. (26617365)
2016
33
Multisystem Radiologic Manifestations of Erdheim-Chester Disease. (27340583)
2016
34
Cutaneous manifestations of Erdheim-Chester disease (ECD): Clinical, pathological, and molecular features in a monocentric series of 40 patients. (26785805)
2016
35
Evaluation of clinicopathologic characteristics and the BRAF V600E mutation in Erdheim-Chester disease among Chinese adults. (26858028)
2016
36
Erdheim-Chester Disease With Multiorgan Involvement, Following Polycythemia Vera: A Case Report. (27196481)
2016
37
Erdheim-Chester disease and radiobiphosphonates bone scan: from a simple peripheral form to a rare axial location: A case report. (28051224)
2016
38
Erdheim-Chester Disease as a Mimic of IgG4-Related Disease: A Case Report and a Review of a Single-Center Cohort. (27227923)
2016
39
A rare case of Erdheim-Chester disease. (27252327)
2016
40
Bone scintigraphy as cornerstone in the diagnosis of Erdheim-Chester disease. (26750553)
2016
41
Erdheim-Chester disease: 25-year history with early CNS involvement. (27702933)
2016
42
Comparative Study of Clinical, Pathological, Radiological, and Genetic Features of Patients with Adult Ocular Adnexal Xanthogranulomatous Disease, Erdheim-Chester Disease, and IgG4-Related Disease of the Orbit/Ocular Adnexa. (26882062)
2016
43
Erdheim-Chester disease with orbital involvement: Case report and ophthalmic literature review. (27322549)
2016
44
Superior efficacy and tolerance of reduced doses of vemurafenib plus anakinra in Erdheim-Chester disease: Towards the paradigm of combined targeting and immune therapies. (27031008)
2016
45
A Case of Incidentally-diagnosed Erdheim-Chester Disease. (27752407)
2016
46
Erdheim-Chester Disease With Cardiovascular Involvement and BRAF V600E Mutation. (27296272)
2016
47
Erdheim-Chester Disease Presenting With Intractable Exophthalmos and Bone Lesions. (27865309)
2016
48
Erdheim-Chester disease with vascular involvement mimics large vessel vasculitis. (27234207)
2016
49
Erdheim-Chester disease with novel gene mutations discovered as an incidental finding in explanted liver of a patient with hepatitis C cirrhosis: A case report and literature review. (27445228)
2016
50
Erdheim Chester disease: A rare obstructive case of acute renal failure. (27597297)
2016

Variations for Erdheim-Chester Disease

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Expression for genes affiliated with Erdheim-Chester Disease

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Search GEO for disease gene expression data for Erdheim-Chester Disease.

Pathways for genes affiliated with Erdheim-Chester Disease

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

(show all 40)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.7BRAF, NRAS
29.7BRAF, NRAS
39.7BRAF, NRAS
49.6BRAF, PIK3CA
59.6BRAF, PIK3CA
69.6BRAF, PIK3CA
79.6BRAF, PIK3CA
89.6NRAS, PIK3CA
99.6NRAS, PIK3CA
109.3CCL2, SERPINA3
119.3CCL2, CCR3
12
Show member pathways
9.2BRAF, NRAS, PIK3CA
13
Show member pathways
9.2BRAF, NRAS, PIK3CA
14
Show member pathways
9.2BRAF, NRAS, PIK3CA
15
Show member pathways
9.2BRAF, NRAS, PIK3CA
16
Show member pathways
9.2BRAF, NRAS, PIK3CA
17
Show member pathways
9.2BRAF, NRAS, PIK3CA
189.2BRAF, NRAS, PIK3CA
19
Show member pathways
9.2BRAF, NRAS, PIK3CA
20
Show member pathways
9.2BRAF, NRAS, PIK3CA
219.2BRAF, NRAS, PIK3CA
229.2BRAF, NRAS, PIK3CA
23
Show member pathways
9.2BRAF, NRAS, PIK3CA
24
Show member pathways
9.2BRAF, NRAS, PIK3CA
25
Show member pathways
9.2BRAF, NRAS, PIK3CA
26
Show member pathways
9.2BRAF, NRAS, PIK3CA
27
Show member pathways
9.2BRAF, NRAS, PIK3CA
289.2PIK3CA, PRKG1
299.1CCR3, NRAS, PIK3CA
30
Show member pathways
9.1BRAF, CCL2, NRAS
31
Show member pathways
9.0BRAF, CCL2, PIK3CA
32
Show member pathways
9.0CCL2, NRAS, PIK3CA
339.0CCL2, NRAS, PIK3CA
348.9CCL2, CCR3, PIK3CA
358.9BRAF, NRAS, PRKG1
36
Show member pathways
8.9BRAF, NRAS, PRKG1
37
Show member pathways
8.4BRAF, NRAS, PIK3CA, PRKG1
38
Show member pathways
8.1BRAF, CCL2, CCR3, NRAS, PIK3CA
39
Show member pathways
8.1BRAF, CCL2, CCR3, NRAS, PIK3CA
40
Show member pathways
7.3BRAF, CCL2, NRAS, PIK3CA, PRKG1, SERPINA3

GO Terms for genes affiliated with Erdheim-Chester Disease

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

idNameGO IDScoreTop Affiliating Genes
1intracellularGO:00056228.1BRAF, CCL2, NRAS, PIK3CA, SERPINA3

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1epidermal growth factor receptor signaling pathwayGO:000717310.4NRAS, PIK3CA
2ERBB2 signaling pathwayGO:003812810.4NRAS, PIK3CA
3cellular response to drugGO:003569010.3BRAF, CCL2
4cellular response to glucose stimulusGO:007133310.2CCL2, PIK3CA
5protein kinase B signalingGO:004349110.2CCL2, PIK3CA
6positive regulation of endothelial cell proliferationGO:000193810.1CCL2, CCR3
7MAPK cascadeGO:00001659.8BRAF, CCL2, NRAS
8negative regulation of neuron apoptotic processGO:00435249.8BRAF, CCL2, PIK3CA
9inflammatory responseGO:00069549.6CCL2, CCR3, SERPINA3
10protein phosphorylationGO:00064688.9BRAF, CCL2, PIK3CA, PRKG1
11signal transductionGO:00071657.7BRAF, CCL2, CCR3, NRAS, PRKG1

Sources for Erdheim-Chester Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet