MCID: ERD001
MIFTS: 51

Erdheim-Chester Disease malady

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

Aliases & Classifications for Erdheim-Chester Disease

About this section
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

About this section
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 choroiditis and lipogranulomatosis, and has symptoms including abnormality of the genital system, proptosis and diabetes insipidus. An important gene associated with Erdheim-Chester Disease is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways are Vemurafenib Pathway, Pharmacodynamics and MAP2K and MAPK activation. Affiliated tissues include bone, bone marrow and skin, and related mouse phenotypes are Decreased viability and immune system.

Genetics Home Reference:25 Erdheim-Chester disease is a rare disorder characterized by histiocytosis, a condition in which the immune system produces excess quantities of cells called histiocytes. Histiocytes normally function to destroy foreign substances and protect the body from infection. Erdheim-Chester disease is classified as a form of non-Langerhans cell histiocytosis to distinguish it from Langerhans cell histiocytosis, which involves accumulation of a specific type of histiocyte called Langerhans cells. In Erdheim-Chester disease, 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

About this section

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

(show top 50)    (show all 82)
idRelated DiseaseScoreTop Affiliating Genes
1choroiditis29.7CCL2, SERPINA3
2lipogranulomatosis11.2
3atrioventricular septal defect10.8
4histiocytosis10.7
5cerebritis10.4
6pericardial effusion10.3
7pterygium colli mental retardation digital anomalies10.3BRAF, NRAS
8rad51c-related fanconi anemia10.3BRAF, NRAS
9hypersplenism10.3BRAF, NRAS
10parotid gland adenoid cystic carcinoma10.2BRAF, NRAS
11non-langerhans-cell histiocytosis10.2
12diabetes insipidus10.2
13eosinophilic granuloma10.2
14epidermal nevus, somatic10.2NRAS, PIK3CA
15dermatosis papulosa nigra10.2NRAS, PIK3CA
16leukoencephalopathy palmoplantar keratoderma10.2BRAF, NRAS
17interstitial lung disease10.2
18thyroiditis10.2
19lung disease10.2
20exophthalmos10.2
21myelophthisic anemia10.1BRAF, PIK3CA
22anus adenocarcinoma10.1PIK3CA, SERPINA3
23leopard syndrome 110.1BRAF, NRAS
24leukemia10.1
25lymphoma10.1
26pericarditis10.1
27vasculitis10.1
28igg4-related disease10.1
29ataxia10.1
30atrial standstill10.0BRAF, NRAS
31learning disability9.9BRAF, NRAS
32carotid artery thrombosis9.9BRAF, SERPINA3
33frontotemporal dementia and/or amyotrophic lateral sclerosis 49.9BRAF, NRAS, PIK3CA
34hashimoto thyroiditis9.9
35cerebellar ataxia9.9
36multiple system atrophy9.9
37acute lymphocytic leukemia9.9
38atherosclerosis9.9
39end stage renal failure9.9
40hematopoietic stem cell transplantation9.9
41hepatitis9.9
42thrombocytopenia9.9
43familial hemiplegic migraine9.9
44lymphoblastic leukemia9.9
45portal hypertension9.9
46hydronephrosis9.9
47rhinoscleroma9.9
48constrictive pericarditis9.9
49panniculitis9.9
50pneumothorax9.9

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



Diseases related to erdheim-chester disease

Symptoms & Phenotypes for Erdheim-Chester Disease

About this section

Human phenotypes related to Erdheim-Chester Disease:

 64 54 (show all 49)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the genital system64 hallmark (90%) HP:0000078
2 proptosis64 54 hallmark (90%) Very frequent (99-80%) HP:0000520
3 diabetes insipidus64 54 hallmark (90%) Very frequent (99-80%) HP:0000873
4 abnormality of the metaphyses64 54 hallmark (90%) Very frequent (99-80%) HP:0000944
5 hyperhidrosis64 54 hallmark (90%) Very frequent (99-80%) HP:0000975
6 multiple lipomas64 hallmark (90%) HP:0001012
7 weight loss64 54 hallmark (90%) Very frequent (99-80%) HP:0001824
8 bone pain64 54 hallmark (90%) Very frequent (99-80%) HP:0002653
9 osteomyelitis64 54 hallmark (90%) Very frequent (99-80%) HP:0002754
10 osteolysis64 54 hallmark (90%) Very frequent (99-80%) HP:0002797
11 abnormality of temperature regulation64 hallmark (90%) HP:0004370
12 abnormality of epiphysis morphology64 54 hallmark (90%) Very frequent (99-80%) HP:0005930
13 increased bone mineral density64 54 hallmark (90%) Very frequent (99-80%) HP:0011001
14 joint swelling64 54 typical (50%) Frequent (79-30%) HP:0001386
15 abnormality of the aortic valve64 54 typical (50%) Frequent (79-30%) HP:0001646
16 abdominal pain64 54 typical (50%) Frequent (79-30%) HP:0002027
17 renal insufficiency64 54 occasional (7.5%) Occasional (29-5%) HP:0000083
18 visual impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000505
19 ptosis64 54 occasional (7.5%) Occasional (29-5%) HP:0000508
20 nystagmus64 54 occasional (7.5%) Occasional (29-5%) HP:0000639
21 skin rash64 54 occasional (7.5%) Occasional (29-5%) HP:0000988
22 hyperreflexia64 54 occasional (7.5%) Occasional (29-5%) HP:0001347
23 congestive heart failure64 54 occasional (7.5%) Occasional (29-5%) HP:0001635
24 abnormality of the pericardium64 54 occasional (7.5%) Occasional (29-5%) HP:0001697
25 anemia64 54 occasional (7.5%) Occasional (29-5%) HP:0001903
26 nausea and vomiting64 54 occasional (7.5%) Occasional (29-5%) HP:0002017
27 respiratory insufficiency64 occasional (7.5%) HP:0002093
28 abnormality of the pleura64 occasional (7.5%) HP:0002103
29 neurological speech impairment64 occasional (7.5%) HP:0002167
30 pulmonary fibrosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002206
31 incoordination64 occasional (7.5%) HP:0002311
32 aplasia/hypoplasia of the cerebellum64 occasional (7.5%) HP:0007360
33 aseptic necrosis64 54 occasional (7.5%) Occasional (29-5%) HP:0010885
34 hydronephrosis54 Frequent (79-30%)
35 xanthelasma54 Very frequent (99-80%)
36 ataxia54 Occasional (29-5%)
37 dysarthria54 Occasional (29-5%)
38 abnormality of the cerebellum54 Occasional (29-5%)
39 fever54 Very frequent (99-80%)
40 polydipsia54 Very frequent (99-80%)
41 dyspnea54 Occasional (29-5%)
42 pleural effusion54 Occasional (29-5%)
43 low gonadotropins (secondary hypogonadism)54 Very frequent (99-80%)
44 retroperitoneal fibrosis54 Frequent (79-30%)
45 interstitial pulmonary disease54 Occasional (29-5%)
46 abnormality of immune system physiology54 Occasional (29-5%)
47 fatigue54 Very frequent (99-80%)
48 cough54 Occasional (29-5%)
49 dysuria54 Very frequent (99-80%)

UMLS symptoms related to Erdheim-Chester Disease:


polydipsia

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00381-A-17.3BRAF, 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

About this section

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

(show all 19)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
TrametinibapprovedPhase 2121871700-17-311707110
Synonyms:
GSK 1120212
GSK1120212
JTP 74057
JTP-74057
 
MEK Inhibitor GSK1120212
Mekinist
Trametinib Dimethyl Sulfoxide
Trametinibum
trametinib
2
Dimethyl sulfoxideapproved, vet_approvedPhase 23367-68-5679
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)
3
LenalidomideapprovedPhase 2718191732-72-6216326
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
4
DabrafenibapprovedPhase 27944462760, 44516822
Synonyms:
BRAF inhibitor GSK2118436
Dabrafenib
 
GSK2118436
GSK2118436a
Tafinlar
dabrafenib
5AntioxidantsPhase 22928
6Anti-Infective AgentsPhase 221402
7Immunosuppressive AgentsPhase 212770
8Angiogenesis Modulating AgentsPhase 24072
9Anti-Bacterial AgentsPhase 210884
10Angiogenesis InhibitorsPhase 24143
11Protective AgentsPhase 27190
12MitogensPhase 21526
13Protein Kinase InhibitorsPhase 23612
14
Cholineapproved, nutraceutical14862-49-7305
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 Agents701
16Lipid Regulating Agents2702
17Antimetabolites11774
18Gastrointestinal Agents8109
19Hypolipidemic Agents2721

Interventional clinical trials:

idNameStatusNCT IDPhase
1Dabrafenib and Trametinib in People With BRAF V600E Mutation Positive Lesions in Erdheim Chester DiseaseRecruitingNCT02281760Phase 2
2A Study of Lenalidomide for Adult Histiocyte DisordersRecruitingNCT02523040Phase 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
6Biomarker for Farber DiseaseRecruitingNCT02298634
7Uptake and Biodistribution of 18F-fluorocholine in Histiocytic Disorders by PET Imaging and Biopsy MeasurementRecruitingNCT02608619
8International 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

About this section

Anatomical Context for Erdheim-Chester Disease

About this section

MalaCards organs/tissues related to Erdheim-Chester Disease:

36
Bone, Bone marrow, Skin, Cerebellum, Heart, Brain, Breast

Publications for Erdheim-Chester Disease

About this section

Articles related to Erdheim-Chester Disease:

(show top 50)    (show all 431)
idTitleAuthorsYear
1
Pediatric Erdheim-Chester disease with aggressive skin manifestations. (28078666)
2017
2
Combination of adalimumab with lower dose of methylprednisolone in Erdheim-Chester disease with systemic involvement. (28080175)
2017
3
Erdheim-Chester disease, moving away from the orphan diseases: A case report. (27995058)
2017
4
BRAF Mutations in Erdheim-Chester Disease. (26617365)
2016
5
Erdheim-Chester Disease With Cardiovascular Involvement and BRAF V600E Mutation. (27296272)
2016
6
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
7
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
8
Efficacy of zoledronic acid in Erdheim-Chester disease: A case report. (26987264)
2016
9
Histopathological and Clinical Findings in Cutaneous Manifestation of Erdheim-Chester Disease and Langerhans Cell Histiocytosis Overlap Syndrome Associated With the BRAFV600E Mutation. (27898473)
2016
10
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
11
An unusual presentation of Erdheim-Chester disease. (27739223)
2016
12
Efficacy of the MEK inhibitor cobimetinib for wild-type BRAF Erdheim-Chester disease. (27711968)
2016
13
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
14
Erdheim-Chester Disease: An Unusual Cause of Intracranial Vasculitis and Progressive Leukoencephalopathy. (26996751)
2016
15
Erdheim-Chester Disease Presenting With Intractable Exophthalmos and Bone Lesions. (27865309)
2016
16
Trametinib following disease reactivation under dabrafenib in Erdheim-Chester disease with both BRAF and KRAS mutations. (27940476)
2016
17
Erdheim-Chester disease with orbital involvement: Case report and ophthalmic literature review. (27322549)
2016
18
Cardiac involvement in Erdheim-Chester disease: an MRI study. (27663675)
2016
19
Anakinra as efficacious therapy for two cases of intracranial Erdheim-Chester disease. (27535996)
2016
20
Erdheim-Chester disease and radiobiphosphonates bone scan: from a simple peripheral form to a rare axial location: A case report. (28051224)
2016
21
Erdheim-Chester Disease With Multiorgan Involvement, Following Polycythemia Vera: A Case Report. (27196481)
2016
22
Erdheim-Chester Disease with Emperipolesis: A Unique Case Involving the Heart. (27488869)
2016
23
Erdheim Chester Disease treated successfully with cladribine. (27144117)
2016
24
A Case of Incidentally-diagnosed Erdheim-Chester Disease. (27752407)
2016
25
Cutaneous manifestations of Erdheim-Chester disease (ECD): Clinical, pathological, and molecular features in a monocentric series of 40 patients. (26785805)
2016
26
Erdheim-Chester disease with vascular involvement mimics large vessel vasculitis. (27234207)
2016
27
Evaluation of clinicopathologic characteristics and the BRAF V600E mutation in Erdheim-Chester disease among Chinese adults. (26858028)
2016
28
Diffuse reduction of cerebral grey matter volumes in Erdheim-Chester disease. (27484739)
2016
29
A Unique Case of Erdheim-Chester Disease With Cervical and Lumbosacral Nerve Involvement: FDG PET/CT Finding. (27607166)
2016
30
Erdheim-Chester Disease as a Mimic of IgG4-Related Disease: A Case Report and a Review of a Single-Center Cohort. (27227923)
2016
31
Unusual presentation of Erdheim-Chester disease in a child with acute lymphoblastic leukemia. (27648170)
2016
32
Erdheim-Chester disease as assessed by modern multimodality imaging. (26803255)
2016
33
Successful treatment with cladribine of Erdheim-Chester disease with orbital and central nervous system involvement developing after treatment of Langerhans cell histiocytosis. (26964390)
2016
34
Variability in the efficacy of the IL1 receptor antagonist anakinra for treating Erdheim-Chester disease. (26847247)
2016
35
Erdheim-Chester disease (ECD): Case report, clinical and basic investigations, and review of literature. (27759649)
2016
36
Erdheim-Chester disease: description of eight cases. (27106544)
2016
37
Erdheim Chester disease with appendicular skeletal, renal and pleural involvement responding to Zelboraf (BRAF inhibitor) treatment: case report. (27423231)
2016
38
Erdheim-Chester Disease: A Rare Presentation of a Rare Disease. (27606325)
2016
39
A rare case of Erdheim-Chester disease. (27252327)
2016
40
Erdheim Chester disease: A rare obstructive case of acute renal failure. (27597297)
2016
41
Erdheim-Chester Disease Presenting as a Solid Renal Mass. (27793652)
2016
42
Erdheim-Chester disease with bilateral Achilles tendon involvement. (27506209)
2016
43
Multisystem Radiologic Manifestations of Erdheim-Chester Disease. (27340583)
2016
44
Erdheim-Chester disease: 25-year history with early CNS involvement. (27702933)
2016
45
Diverse cutaneous manifestations of Erdheim-Chester disease in a woman with a history of Langerhans cell histiocytosis. (27051852)
2016
46
Bone scintigraphy as cornerstone in the diagnosis of Erdheim-Chester disease. (26750553)
2016
47
Plasma Chromogranin A as a marker of cardiovascular involvement in Erdheim-Chester disease. (27622037)
2016
48
Long-term outcome of basilar stenosis in Erdheim-Chester disease: A case report. (27603396)
2016
49
Endocrine manifestations in a monocentric cohort of 64 patients with Erdheim-Chester disease. (26565949)
2015
50
Erdheim-Chester disease involving the breast--a rare but important differential diagnosis. (25454479)
2015

Variations for Erdheim-Chester Disease

About this section

Expression for genes affiliated with Erdheim-Chester Disease

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

Pathways for genes affiliated with Erdheim-Chester Disease

About this section

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

(show all 35)
idSuper pathwaysScoreTop Affiliating Genes
19.7BRAF, NRAS
29.7BRAF, NRAS
39.7BRAF, NRAS
4
Show member pathways
9.7BRAF, NRAS
59.7BRAF, NRAS
69.6BRAF, PIK3CA
79.6BRAF, PIK3CA
89.6BRAF, PIK3CA
99.6BRAF, PIK3CA
109.6NRAS, PIK3CA
119.3CCL2, SERPINA3
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
18
Show member pathways
9.2BRAF, NRAS, PIK3CA
19
Show member pathways
9.2BRAF, NRAS, PIK3CA
209.2BRAF, 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, PRKG1
259.2BRAF, NRAS, PRKG1
26
Show member pathways
9.1NRAS, PIK3CA, PRKG1
27
Show member pathways
9.1BRAF, CCL2, NRAS
28
Show member pathways
9.0BRAF, CCL2, PIK3CA
29
Show member pathways
9.0CCL2, NRAS, PIK3CA
309.0CCL2, NRAS, PIK3CA
318.8CCR3, NRAS, PIK3CA
32
Show member pathways
8.7BRAF, NRAS, PIK3CA, PRKG1
33
Show member pathways
8.7BRAF, NRAS, PIK3CA, PRKG1
34
Show member pathways
8.7BRAF, NRAS, PIK3CA, PRKG1
35
Show member pathways
7.8BRAF, CCL2, CCR3, NRAS, PIK3CA

GO Terms for genes affiliated with Erdheim-Chester Disease

About this section

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:000717310.3NRAS, PIK3CA
2ERBB2 signaling pathwayGO:003812810.3NRAS, PIK3CA
3positive regulation of peptidyl-serine phosphorylationGO:003313810.3BRAF, PIK3CA
4protein kinase B signalingGO:004349110.1CCL2, PIK3CA
5MAPK cascadeGO:00001659.8BRAF, CCL2, NRAS
6chemokine-mediated signaling pathwayGO:00700989.8CCL2, CCR3
7positive regulation of endothelial cell proliferationGO:00019389.7CCL2, CCR3
8negative regulation of neuron apoptotic processGO:00435249.7BRAF, CCL2, PIK3CA
9vascular endothelial growth factor receptor signaling pathwayGO:00480109.4CCL2, PIK3CA
10inflammatory responseGO:00069549.2CCL2, CCR3, SERPINA3
11protein phosphorylationGO:00064689.0BRAF, CCL2, PIK3CA, PRKG1

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

idNameGO IDScoreTop Affiliating Genes
1protein kinase activityGO:00046729.6BRAF, CCL2, PRKG1
2protein serine/threonine kinase activityGO:00046749.1BRAF, PIK3CA, PRKG1

Sources for Erdheim-Chester Disease

About this section
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