MCID: ERD001
MIFTS: 57

Erdheim-Chester Disease malady

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

Aliases & Classifications for Erdheim-Chester Disease

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 36MeSH, 65UMLS, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Erdheim-Chester Disease:

Name: Erdheim-Chester Disease 10 45 23 12 51 36 65
Polyostotic Sclerosing Histiocytosis 23
Erdheim Chester Disease 45
 
Lipoid Granulomatosis 45
Lipid Granulomatosis 23
Ecd 45

Characteristics:

Orphanet epidemiological data:

51
erdheim-chester disease:
Age of onset: Adult; Age of death: any age

Classifications:



External Ids:

Disease Ontology10 DOID:4329
MeSH36 D031249
NCIt42 C53972
Orphanet51 35687
ICD10 via Orphanet28 D76.3
MESH via Orphanet37 D031249
UMLS via Orphanet66 C0878675
UMLS65 C0878675

Summaries for Erdheim-Chester Disease

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NIH Rare Diseases:45 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 non-langerhans-cell histiocytosis and lipogranulomatosis, and has symptoms including abnormality of the genital system, proptosis and diabetes insipidus. An important gene associated with Erdheim-Chester Disease is NRAS (Neuroblastoma RAS Viral Oncogene Homolog), and among its related pathways are Vemurafenib Pathway, Pharmacodynamics and Thyroid cancer. Affiliated tissues include bone, lung and skin, and related mouse phenotypes are tumorigenesis and cardiovascular system.

Genetics Home Reference:23 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:68 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 79)
idRelated DiseaseScoreTop Affiliating Genes
1non-langerhans-cell histiocytosis26.9BRAF, CCL2, CCR3, CCR5, NRAS, PIK3CA
2lipogranulomatosis11.3
3atrioventricular septal defect11.0
4histiocytosis10.8
5langerhans-cell histiocytosis10.7
6cerebritis10.5
7pericardial effusion10.4
8rad21-related cornelia de lange syndrome10.4BRAF, NRAS
9hepatic osteogenic sarcoma10.4BRAF, NRAS
10diabetes insipidus10.4
11thyroid cancer, childhood10.3BRAF, PIK3CA
12sublingual gland adenoid cystic carcinoma10.3BRAF, NRAS
13epidermal nevus, somatic10.3NRAS, PIK3CA
14interstitial lung disease10.3
15thyroiditis10.3
16lung disease10.3
17eccrine papillary adenocarcinoma10.3NRAS, PIK3CA
18neuromuscular disease10.3NRAS, PIK3CA
19anterior horn cell disease10.3NRAS, PIK3CA
20congenital structural myopathy10.2NRAS, PIK3CA
21lymphoma10.2
22pericarditis10.2
23ataxia10.2
24cavernous hemangioma10.2NRAS, PIK3CA
25primary thrombocytopenia10.1BRAF, NRAS
26noonan syndrome 710.1BRAF, NRAS
27familial abdominal aortic aneurysm10.1BRAF, NRAS
28hashimoto thyroiditis10.1
29cerebellar ataxia10.1
30multiple system atrophy10.1
31acute lymphocytic leukemia10.1
32atherosclerosis10.1
33end stage renal failure10.1
34hematopoietic stem cell transplantation10.1
35leukemia10.1
36thrombocytopenia10.1
37familial hemiplegic migraine10.1
38portal hypertension10.1
39hydronephrosis10.1
40rhinoscleroma10.1
41choroiditis10.1
42constrictive pericarditis10.1
43nephrotic syndrome10.1
44panniculitis10.1
45pneumothorax10.1
46dermatitis10.1
47atopic dermatitis10.1
48periodontal disease10.1
49empty sella syndrome10.1
50arthropathy10.1

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



Diseases related to erdheim-chester disease

Symptoms for Erdheim-Chester Disease

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Symptoms:

 51 (show all 43)
  • proptosis/exophthalmos
  • hyperhidrosis/increased sweating
  • xanthomas/lipomas
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • diabetes insipidus
  • late puberty/hypogonadism/hypogenitalism
  • osteosclerosis/osteopetrosis/bone condensation
  • osteolysis/osteoclasia/bone destruction/erosions
  • osteomyelitis/osteitis/periostitis/spondylodisciitis
  • bone pain
  • metaphyseal anomaly
  • epiphyseal anomaly
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • fever/chilling
  • thirst
  • asthenia/fatigue/weakness
  • acute abdominal pain/colic
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • renal/kidney anomalies
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • functional anomalies of the kidney and the urinary tract
  • hydrarthrosis/articular/joint effusion
  • mild visual loss/impaired visual acuity
  • nystagmus
  • ptosis
  • cutaneous rash
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • ground-glass/reticular/alveolar/interstitial lung/pulmonary opacity
  • lung fibrosis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • cough
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • heart/cardiac failure
  • renal failure
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • ataxia/incoordination/trouble of the equilibrium
  • hypereflexia
  • elocution disorders/dysarthria/dysphonia
  • osteonecrosis/bone infarction
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • anaemia
  • early death/lethality

HPO human phenotypes related to Erdheim-Chester Disease:

(show all 33)
id Description Frequency HPO Source Accession
1 abnormality of the genital system hallmark (90%) HP:0000078
2 proptosis hallmark (90%) HP:0000520
3 diabetes insipidus hallmark (90%) HP:0000873
4 abnormality of the metaphyses hallmark (90%) HP:0000944
5 hyperhidrosis hallmark (90%) HP:0000975
6 multiple lipomas hallmark (90%) HP:0001012
7 weight loss hallmark (90%) HP:0001824
8 bone pain hallmark (90%) HP:0002653
9 osteomyelitis hallmark (90%) HP:0002754
10 osteolysis hallmark (90%) HP:0002797
11 abnormality of temperature regulation hallmark (90%) HP:0004370
12 abnormality of epiphysis morphology hallmark (90%) HP:0005930
13 increased bone mineral density hallmark (90%) HP:0011001
14 joint swelling typical (50%) HP:0001386
15 abnormality of the aortic valve typical (50%) HP:0001646
16 abdominal pain typical (50%) HP:0002027
17 renal insufficiency occasional (7.5%) HP:0000083
18 visual impairment occasional (7.5%) HP:0000505
19 ptosis occasional (7.5%) HP:0000508
20 nystagmus occasional (7.5%) HP:0000639
21 skin rash occasional (7.5%) HP:0000988
22 hyperreflexia occasional (7.5%) HP:0001347
23 congestive heart failure occasional (7.5%) HP:0001635
24 abnormality of the pericardium occasional (7.5%) HP:0001697
25 anemia occasional (7.5%) HP:0001903
26 nausea and vomiting occasional (7.5%) HP:0002017
27 respiratory insufficiency occasional (7.5%) HP:0002093
28 abnormality of the pleura occasional (7.5%) HP:0002103
29 neurological speech impairment occasional (7.5%) HP:0002167
30 pulmonary fibrosis occasional (7.5%) HP:0002206
31 incoordination occasional (7.5%) HP:0002311
32 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
33 aseptic necrosis occasional (7.5%) HP:0010885

UMLS symptoms related to Erdheim-Chester Disease:


polydipsia

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 15)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
TrametinibapprovedPhase 2111871700-17-311707110
Synonyms:
GSK 1120212
GSK1120212
JTP 74057
JTP-74057
 
MEK Inhibitor GSK1120212
Mekinist
Trametinib Dimethyl Sulfoxide
Trametinibum
trametinib
2
Dimethyl sulfoxideapprovedPhase 22967-68-5679
Synonyms:
(CH3)2SO
(methylsulfinyl)methane
DMSO
Dimethyl sulfoxide
Dimethyl sulfoxixde
Dimethyl sulfur oxide
Dimethyl sulphoxide
 
Dimethyl sulpoxide
Dimethyli sulfoxidum
Dimethylsulfoxid
Dimethylsulfoxyde
Dimetil sulfoxido
Methylsulfinylmethane
Rimso-50
S(O)Me2
Sulfinylbis(methane)
3
LenalidomideapprovedPhase 2674191732-72-6216326
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 27044462760, 44516822
Synonyms:
BRAF inhibitor GSK2118436
Dabrafenib
Dabrafenib Mesylate
 
GSK2118436
GSK2118436a
Tafinlar
dabrafenib
5Anti-Infective AgentsPhase 217220
6Immunologic FactorsPhase 218483
7Immunosuppressive AgentsPhase 210422
8Anti-Bacterial AgentsPhase 29140
9Angiogenesis InhibitorsPhase 23688
10MitogensPhase 21386
11Protective AgentsPhase 25651
12Protein Kinase InhibitorsPhase 23162
13Angiogenesis Modulating AgentsPhase 23611
14AntioxidantsPhase 22442
15
Cholineapproved, nutraceutical13062-49-7305
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

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

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Anatomical Context for Erdheim-Chester Disease

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MalaCards organs/tissues related to Erdheim-Chester Disease:

33
Bone, Lung, Skin, Brain, Pituitary, Bone marrow, Kidney

Animal Models for Erdheim-Chester Disease or affiliated genes

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MGI Mouse Phenotypes related to Erdheim-Chester Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.9BRAF, CCR5, NRAS, PIK3CA
2MP:00053857.8BRAF, CCR5, NRAS, PIK3CA, PRKG1
3MP:00053847.4BRAF, CCR3, CCR5, NRAS, PIK3CA, PRKG1
4MP:00053876.4BRAF, CCL2, CCR3, CCR5, NRAS, PIK3CA

Publications for Erdheim-Chester Disease

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Articles related to Erdheim-Chester Disease:

(show top 50)    (show all 397)
idTitleAuthorsYear
1
BRAF Mutations in Erdheim-Chester Disease. (26617365)
2016
2
Cutaneous manifestations of Erdheim-Chester disease (ECD): Clinical, pathological, and molecular features in a monocentric series of 40 patients. (26785805)
2016
3
Endocrine manifestations in a monocentric cohort of 64 patients with Erdheim-Chester disease. (26565949)
2015
4
Erdheim-Chester disease involving the breast--a rare but important differential diagnosis. (25454479)
2015
5
Coexistence of intracranial Langerhans cell histiocytosis and Erdheim-Chester disease in a pediatric patient: a case report. (26466952)
2015
6
Hearing rehabilitation with a binaural cochlear implant in a patient with Erdheim-Chester disease. (25563401)
2015
7
Intrapelvic Bulky Tumor as an Unusual Presentation of Erdheim-Chester Disease. (26666621)
2015
8
High-dose methotrexate for the treatment of relapsed central nervous system erdheim-chester disease. (25031876)
2014
9
Erdheim-Chester disease and knee pain in a dialysis patient. (25852919)
2014
10
Constrictive pericarditis in Erdheim-Chester disease: an integrated echocardiographic and magnetic resonance approach. (24768396)
2014
11
Gastrointestinal Erdheim-Chester disease. (24908861)
2014
12
Thoracic, abdominal and musculoskeletal involvement in Erdheim-Chester disease: CT, MR and PET imaging findings. (25017251)
2014
13
BRAF V600E mutations in urine and plasma cell-free DNA from patients with Erdheim-Chester disease. (25003820)
2014
14
Association of both Langerhans cell histiocytosis and Erdheim-Chester disease linked to the BRAFV600E mutation. (24894769)
2014
15
Erdheim-Chester disease and Schnitzler syndrome: so near, and yet so far. (24046179)
2013
16
Erdheim-Chester disease: an uncommon cause of upper urinary tract obstruction. (24088590)
2013
17
Erdheim-Chester Disease With Prominent Pericardial Effusion: Cytologic Findings and Review of the Literature. (23447119)
2013
18
BRAF mutations in Erdheim-Chester disease. (23248255)
2013
19
Hand-SchA1ller-Christian disease and Erdheim-Chester disease: coexistence and discrepancy. (23299772)
2013
20
Paroxysmal exertion-induced dystonia secondary to Erdheim-Chester disease. (22980524)
2013
21
Postoperative cardiac homograft involvement in Erdheim-Chester disease. (22808847)
2012
22
Histiocytosis for the neurologist: a case of Erdheim-Chester disease. (22976062)
2012
23
Pericardial effusion as a crucial presentation of Erdheim-Chester disease in a hemodialysis patient: an overlooked diagnosis. (22732342)
2012
24
Reply to commentary on "a case of erdheim-chester disease with asymptomatic renal involvement". (23341795)
2012
25
Erdheim-Chester disease with extensive coronary arterial involvement. (21566495)
2011
26
Erdheim-Chester disease: multisystem involvement and management with interferon-alpha. (19679354)
2010
27
Pulmonary involvement in Erdheim-Chester disease: a single-center study of thirty-four patients and a review of the literature. (20662053)
2010
28
A case of osteoarthropathy due to Erdheim-Chester disease with overlapping Langerhans' cell infiltration. (20558949)
2010
29
Non-Langerhans cell histiocytosis with isolated CNS involvement: an unusual variant of Erdheim-Chester disease. (20337948)
2010
30
18F-fluorodeoxyglucose-positron emission tomography scanning is more useful in followup than in the initial assessment of patients with Erdheim-Chester disease. (19790052)
2009
31
A rare histiocytosis with severe cardiac involvement: Erdheim-Chester disease. (18717219)
2008
32
Unmasked diabetes insipidus after pericardial drainage and biopsy for pericardial effusion in association with Erdheim-Chester disease. (18603080)
2008
33
Intracranial lesion of Erdheim-Chester disease. (17509397)
2007
34
Tc-99m MDP bone scintigraphy and positron emission tomography/computed tomography (PET/CT) imaging in Erdheim-Chester disease. (17179801)
2007
35
Radiotherapy for Erdheim-Chester disease. (17566851)
2007
36
Laparoscopic biopsy and ureterolysis in Erdheim-Chester disease. (15819294)
2005
37
Diagnosis of Erdheim-Chester disease by using computerized tomography-guided stereotactic biopsy of a caudate lesion. Case report. (15352612)
2004
38
Erdheim-Chester disease mimicking a primary brain tumor. Case report. (15200134)
2004
39
Images in neuroscience: question. Erdheim-Chester disease. (14975419)
2004
40
Erdheim-Chester disease. (12869045)
2003
41
Erdheim-Chester disease with early onset atherosclerosis and a pseudo-malignant phase. (12594120)
2003
42
Failure of radiation therapy for brain involvement in Erdheim Chester disease. (12241111)
2002
43
Interferon therapy for orbital infiltration secondary to Erdheim-Chester disease. (11730673)
2001
44
Erdheim-Chester disease. A case report. (11499297)
2001
45
Two enlarged kidneys: a manifestation of Erdheim-Chester disease. (11509804)
2001
46
Pulmonary involvement with Erdheim-Chester disease: radiographic and CT findings. (10789787)
2000
47
Erdheim-Chester disease with intramuscular lipogranuloma. (10855472)
2000
48
Erdheim-Chester disease: radiographic findings in five patients. (9554002)
1998
49
Erdheim-Chester disease with epiphyseal and systemic disease. (8320335)
1993
50
Erdheim-Chester disease: computed tomography in two cases. (3923805)
1985

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 39)
idSuper pathwaysScoreTop Affiliating Genes
19.5BRAF, NRAS
29.5BRAF, NRAS
39.5BRAF, NRAS
4
Show member pathways
9.5BRAF, NRAS
59.5BRAF, NRAS
69.4BRAF, PIK3CA
79.4BRAF, PIK3CA
89.4BRAF, PIK3CA
99.4BRAF, PIK3CA
109.4BRAF, PIK3CA
119.2CCL2, NRAS, PIK3CA
12
Show member pathways
9.2CCR5, NRAS, PIK3CA
13
Show member pathways
9.1BRAF, NRAS, PIK3CA
14
Show member pathways
9.1BRAF, NRAS, PIK3CA
15
Show member pathways
9.1BRAF, NRAS, PIK3CA
16
Show member pathways
9.1BRAF, NRAS, PIK3CA
17
Show member pathways
9.1BRAF, NRAS, PIK3CA
18
Show member pathways
9.1BRAF, NRAS, PIK3CA
19
Show member pathways
9.1BRAF, NRAS, PIK3CA
209.1BRAF, NRAS, PIK3CA
21
Show member pathways
9.1BRAF, NRAS, PIK3CA
22
Show member pathways
9.1BRAF, NRAS, PIK3CA
23
Show member pathways
9.1BRAF, NRAS, PIK3CA
249.1BRAF, NRAS, PIK3CA
25
Show member pathways
9.0BRAF, CCL2, NRAS
26
Show member pathways
9.0BRAF, CCL2, PIK3CA
27
Show member pathways
9.0CCL2, CCR3, CCR5
28
Show member pathways
9.0BRAF, CCR5, NRAS
29
Show member pathways
8.9NRAS, PIK3CA, PRKG1
308.7BRAF, NRAS, PRKG1
31
Show member pathways
8.7BRAF, NRAS, PRKG1
328.6CCR3, CCR5, NRAS, PIK3CA
33
Show member pathways
8.2BRAF, NRAS, PIK3CA, PRKG1
34
Show member pathways
8.2BRAF, NRAS, PIK3CA, PRKG1
35
Show member pathways
8.2BRAF, NRAS, PIK3CA, PRKG1
36
Show member pathways
8.0BRAF, CCL2, CCR3, CCR5, NRAS
37
Show member pathways
8.0BRAF, CCL2, CCR3, CCR5, NRAS
38
Show member pathways
7.6BRAF, CCL2, CCR3, CCR5, NRAS, PIK3CA
39
Show member pathways
6.7BRAF, CCL2, CCR3, CCR5, NRAS, PIK3CA

GO Terms for genes affiliated with Erdheim-Chester Disease

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1ERBB2 signaling pathwayGO:003812810.2NRAS, PIK3CA
2positive regulation of endothelial cell proliferationGO:000193810.0CCL2, CCR3
3cellular response to drugGO:00356909.9BRAF, CCL2
4organ morphogenesisGO:00098879.8BRAF, CCL2
5fibroblast growth factor receptor signaling pathwayGO:00085439.5BRAF, NRAS, PIK3CA
6MAPK cascadeGO:00001659.4CCL2, CCR5, NRAS
7vascular endothelial growth factor receptor signaling pathwayGO:00480109.2BRAF, NRAS, PIK3CA
8chemokine-mediated signaling pathwayGO:00700989.2CCL2, CCR3, CCR5
9insulin receptor signaling pathwayGO:00082869.2BRAF, NRAS, PIK3CA
10neurotrophin TRK receptor signaling pathwayGO:00480118.8BRAF, NRAS, PIK3CA
11signal transductionGO:00071658.2BRAF, CCL2, NRAS, PRKG1

Sources for Erdheim-Chester Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet