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, 46NIH Rare Diseases, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 37MeSH, 66UMLS, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Erdheim-Chester Disease:

Name: Erdheim-Chester Disease 11 46 24 13 52 37 66
Polyostotic Sclerosing Histiocytosis 24
Erdheim Chester Disease 46
 
Lipoid Granulomatosis 46
Lipid Granulomatosis 24
Ecd 46

Characteristics:

Orphanet epidemiological data:

52
erdheim-chester disease:
Inheritance: Not applicable; Age of onset: Adult; Age of death: any age

Classifications:



External Ids:

Disease Ontology11 DOID:4329
MeSH37 D031249
NCIt43 C53972
Orphanet52 ORPHA35687
ICD10 via Orphanet29 D76.3
MESH via Orphanet38 D031249
UMLS via Orphanet67 C0878675

Summaries for Erdheim-Chester Disease

About this section
NIH Rare Diseases:46 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 MAP2K and MAPK activation and Long-term depression. Affiliated tissues include bone, skin and brain, and related mouse phenotype immune system.

Genetics Home Reference:24 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:69 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 86)
idRelated DiseaseScoreTop Affiliating Genes
1choroiditis30.0CCL2, SERPINA3
2lipogranulomatosis11.3
3atrioventricular septal defect11.0
4histiocytosis10.8
5langerhans-cell histiocytosis10.7
6cerebritis10.5
7pericardial effusion10.4
8pterygium colli mental retardation digital anomalies10.4BRAF, NRAS
9rad51c-related fanconi anemia10.4BRAF, NRAS
10hypersplenism10.4BRAF, NRAS
11non-langerhans-cell histiocytosis10.4
12diabetes insipidus10.4
13parotid gland adenoid cystic carcinoma10.3BRAF, NRAS
14epidermal nevus, somatic10.3NRAS, PIK3CA
15interstitial lung disease10.3
16thyroiditis10.3
17lung disease10.3
18leukoencephalopathy palmoplantar keratoderma10.3BRAF, NRAS
19localized epiphyseal dysplasia10.3BRAF, NRAS
20dermatosis papulosa nigra10.3NRAS, PIK3CA
21myelophthisic anemia10.3BRAF, PIK3CA
22leukemia10.2
23lymphoma10.2
24pericarditis10.2
25vasculitis10.2
26exophthalmos10.2
27igg4-related disease10.2
28ataxia10.2
29anus adenocarcinoma10.2PIK3CA, SERPINA3
30leopard syndrome 110.2BRAF, NRAS
31learning disability10.1BRAF, NRAS
32atrial standstill10.1BRAF, NRAS
33hashimoto thyroiditis10.1
34cerebellar ataxia10.1
35multiple system atrophy10.1
36acute lymphocytic leukemia10.1
37atherosclerosis10.1
38end stage renal failure10.1
39hematopoietic stem cell transplantation10.1
40hepatitis10.1
41thrombocytopenia10.1
42familial hemiplegic migraine10.1
43lymphoblastic leukemia10.1
44portal hypertension10.1
45hydronephrosis10.1
46rhinoscleroma10.1
47constrictive pericarditis10.1
48nephrotic syndrome10.1
49panniculitis10.1
50pneumothorax10.1

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



Diseases related to erdheim-chester disease

Symptoms for Erdheim-Chester Disease

About this section

Symptoms:

 52 (show all 41)
  • renal insufficiency
  • hydronephrosis
  • visual impairment
  • ptosis
  • proptosis
  • nystagmus
  • diabetes insipidus
  • abnormality of the metaphyses
  • hyperhidrosis
  • skin rash
  • xanthelasma
  • ataxia
  • dysarthria
  • abnormality of the cerebellum
  • hyperreflexia
  • joint swelling
  • congestive heart failure
  • abnormality of the aortic valve
  • abnormality of the pericardium
  • weight loss
  • anemia
  • fever
  • polydipsia
  • nausea and vomiting
  • abdominal pain
  • dyspnea
  • pleural effusion
  • pulmonary fibrosis
  • bone pain
  • osteomyelitis
  • osteolysis
  • low gonadotropins (secondary hypogonadism)
  • retroperitoneal fibrosis
  • abnormality of epiphysis morphology
  • interstitial pulmonary disease
  • aseptic necrosis
  • abnormality of immune system physiology
  • increased bone mineral density
  • fatigue
  • cough
  • dysuria

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

About this section

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

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ThalidomidePhase 2106050-35-15426
Synonyms:
( inverted question mark)-Thalidomide
(+)-Thalidomide
(+-)-N-(2,6-dioxo-3-Piperidyl)phthalimide
(+-)-Thalidomide
(+/-)-THALIDOMIDE
(?)-Thalidomide
(±)-N-(2,6-dioxo-3-piperidyl)phthalimide
(±)-thalidomide
.alpha.-(N-Phthalimido)glutarimide
.alpha.-N-Phthalylglutaramide
.alpha.-Phthalimidoglutarimide
1,3-dioxo-2-(2,6-dioxopiperidin-3-yl)isoindoline
14088-68-7
2,6-Dioxo-3-phthalimidopiperidine
2,6-dioxo-3-phthalimidopiperidine
3-Phthalimidoglutarimide
50-35-1
731-40-8
AB00052362
AC-917
AC1L1KBZ
AC1Q6FJA
AI3-50606
Algosediv
Asidon 3
Asmadion
Asmaval
BPBio1_000159
BRD-A93255169-001-06-9
BRN 0030233
BSPBio_000143
BSPBio_001156
BSPBio_003330
Bio1_000387
Bio1_000876
Bio1_001365
Bio2_000418
Bio2_000898
Bonbrain
Bonbrrin
C07910
C13H10N2O4
CCRIS 8148
CHEBI:105028
CHEMBL468
CID5426
CPD000058524
Calmore
Calmorex
Celgene Brand of Thalidomide
Contergan
Corronarobetin
D00754
D013792
DB01041
Distaval
Distaxal
Distoval
DivK1c_000051
E-217
EINECS 200-031-1
ENMD 0995
EU-0101224
Ectiluran
Enterosediv
Gastrinide
Glupan
Glutanon
Grippex
HMS1362J17
HMS1568H05
HMS1792J17
HMS1922E12
HMS1990J17
HMS2090O05
HMS2093G15
HMS500C13
HSDB 3586
Hippuzon
I06-0197
IDI1_000051
IDI1_002173
IN1061
Imida-Lab
Imida-lab
Imidan
Imidan (peyta)
Imidene
Isomin
K 17
K-17
KBio1_000051
KBio2_000496
KBio2_002322
KBio2_003064
KBio2_004890
KBio2_005632
KBio2_007458
KBio3_000911
KBio3_000912
KBio3_002550
KBio3_002802
KBioGR_000496
KBioGR_001474
KBioGR_002322
KBioSS_000496
KBioSS_002324
Kedavon
Kevadon
LS-109463
LS-140
Lopac0_001224
Lulamin
MLS000069353
MolPort-003-665-582
N-(2,6-Dioxo-3-piperidyl)phthalimide
N-(2,6-dioxo-3-piperidyl)phthalimide
N-Phthalimidoglutamic acid imide
N-Phthaloylglutamimide
N-Phthalyl-glutaminsaeure-imid
N-Phthalyl-glutaminsaeure-imid [German]
N-Phthalylglutamic acid imide
NCGC00015989-03
NCGC00015989-13
NCGC00024708-02
 
NCGC00024708-03
NCGC00024708-04
NCGC00024708-05
NCGC00024708-06
NCGC00024708-07
NCGC00024708-08
NCGC00024708-09
NCI60_023904
NCIOpen2_003188
NINDS_000051
NSC 527179
NSC-66847
NSC527179
NSC66847
NSC91729
NSC91730
Neaufatin
Neo
Neosedyn
Neosydyn
Nerosedyn
Neufatin
Neurodyn
Neurosedin
Neurosedym
Neurosedyn
Nevrodyn
Nibrol
Noctosediv
Noxodyn
Pangul
Pantosediv
Poly-Giron
Polygripan
Predni-Sediv
Prestwick0_000192
Prestwick1_000192
Prestwick2_000192
Prestwick3_000192
Prestwick_463
Pro-Bam M
Pro-ban M
Profarmil
Psycholiquid
Psychotablets
Quetimid
Quietoplex
S1193_Selleck
SAM002564245
SMR000058524
SPBio_000893
SPBio_002064
SPECTRUM1503607
ST51039042
Sandormin
Sedalis
Sedalis sedi-lab
Sedimide
Sedin
Sedisperil
Sedoval
Shin-naito S
Shinnibrol
Sleepan
Slipro
Softenil
Softenon
Spectrum2_000707
Spectrum3_001715
Spectrum4_001087
Spectrum5_001791
Synovir
T144_SIGMA
T150_SIGMA
T151_SIGMA
THALIDOMIDE (AIDS INITIATIVE)
Talargan
Talidomida
Talidomida [INN-Spanish]
Talidomide
Talidomide [DCIT]
Talimol
Talismol
Talizer
Telagan
Telargan
Telargean
Tensival
Thaled
Thaled (TN)
Thalidomide
Thalidomide (+ and -)
Thalidomide (JAN/USP/INN)
Thalidomide (soluble form)
Thalidomide Celgene
Thalidomide Pharmion
Thalidomide [USAN:INN:BAN]
Thalidomidum
Thalidomidum [INN-Latin]
Thalidomine USP26
Thalin
Thalinette
Thalomid
Thalomid (TM)
Thalomid (TN)
Thalomid, Thalidomide
Thalomide
Theophilcholine
UNII-4Z8R6ORS6L
UPCMLD-DP139
UPCMLD-DP139:001
Valgis
Valgraine
WLN: T56 BVNVJ C- DT6VMVTJ
WLN: T56 BVNVJ C- DT6VMVTJ -D
WLN: T56 BVNVJ C- DT6VMVTJ -L
Yodomin
alpha-(N-Phthalimido)glutarimide
alpha-N-Phthalylglutaramide
alpha-Phthalimidoglutarimide
alpha-phthalimidoglutarimide
cMAP_000022
thalidomide
α-(N-phthalimido)glutarimide
α-N-phthalylglutaramide
α-phthalimidoglutarimide
2
LenalidomidePhase 2691191732-72-6216326
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
3
TrametinibPhase 2115871700-17-311707110
Synonyms:
GSK 1120212
GSK1120212
JTP 74057
JTP-74057
 
MEK Inhibitor GSK1120212
Mekinist
Trametinib Dimethyl Sulfoxide
Trametinibum
trametinib
4
DabrafenibPhase 27544462760, 44516822
Synonyms:
BRAF inhibitor GSK2118436
Dabrafenib
 
GSK2118436
GSK2118436a
Tafinlar
dabrafenib
5
Dimethyl sulfoxidePhase 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)
6
CholineNutraceutical14762-49-7305
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

About this section

Anatomical Context for Erdheim-Chester Disease

About this section

MalaCards organs/tissues related to Erdheim-Chester Disease:

34
Bone, Skin, Brain, Lung, Pituitary, Bone marrow, Cerebellum

Animal Models for Erdheim-Chester Disease or affiliated genes

About this section

MGI Mouse Phenotypes related to Erdheim-Chester Disease:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053877.3BRAF, CCL2, CCR3, CCR7, NRAS, PIK3CA

Publications for Erdheim-Chester Disease

About this section

Articles related to Erdheim-Chester Disease:

(show top 50)    (show all 418)
idTitleAuthorsYear
1
BRAF Mutations in Erdheim-Chester Disease. (26617365)
2016
2
Erdheim-Chester Disease With Cardiovascular Involvement and BRAF V600E Mutation. (27296272)
2016
3
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
4
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
5
Efficacy of zoledronic acid in Erdheim-Chester disease: A case report. (26987264)
2016
6
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
7
Endocrine manifestations in a monocentric cohort of 64 patients with Erdheim-Chester disease. (26565949)
2015
8
Erdheim-Chester disease involving the breast--a rare but important differential diagnosis. (25454479)
2015
9
Intrapelvic Bulky Tumor as an Unusual Presentation of Erdheim-Chester Disease. (26666621)
2015
10
Erdheim-Chester disease and knee pain in a dialysis patient. (25852919)
2014
11
Constrictive pericarditis in Erdheim-Chester disease: an integrated echocardiographic and magnetic resonance approach. (24768396)
2014
12
Gastrointestinal Erdheim-Chester disease. (24908861)
2014
13
Thoracic, abdominal and musculoskeletal involvement in Erdheim-Chester disease: CT, MR and PET imaging findings. (25017251)
2014
14
BRAF V600E mutations in urine and plasma cell-free DNA from patients with Erdheim-Chester disease. (25003820)
2014
15
Association of both Langerhans cell histiocytosis and Erdheim-Chester disease linked to the BRAFV600E mutation. (24894769)
2014
16
Erdheim-Chester disease and Schnitzler syndrome: so near, and yet so far. (24046179)
2013
17
Erdheim-Chester disease: an uncommon cause of upper urinary tract obstruction. (24088590)
2013
18
Erdheim-Chester Disease With Prominent Pericardial Effusion: Cytologic Findings and Review of the Literature. (23447119)
2013
19
Paroxysmal exertion-induced dystonia secondary to Erdheim-Chester disease. (22980524)
2013
20
Erdheim-Chester disease. (23597965)
2013
21
Pericardial effusion as a crucial presentation of Erdheim-Chester disease in a hemodialysis patient: an overlooked diagnosis. (22732342)
2012
22
Reply to commentary on "a case of erdheim-chester disease with asymptomatic renal involvement". (23341795)
2012
23
Immunopathological analysis of Erdheim-Chester disease with massive ascites. (23037484)
2012
24
Image of Erdheim-Chester disease requiring hemodialysis. (22864518)
2012
25
Erdheim-Chester disease--a rare differential diagnosis of eosinophilic granuloma: a case report. (22467484)
2012
26
Erdheim-Chester disease with extensive coronary arterial involvement. (21566495)
2011
27
Erdheim-Chester disease. (20949296)
2011
28
Erdheim-Chester disease: multisystem involvement and management with interferon-alpha. (19679354)
2010
29
18F-fluorodeoxyglucose-positron emission tomography scanning is more useful in followup than in the initial assessment of patients with Erdheim-Chester disease. (19790052)
2009
30
A rare histiocytosis with severe cardiac involvement: Erdheim-Chester disease. (18717219)
2008
31
Unmasked diabetes insipidus after pericardial drainage and biopsy for pericardial effusion in association with Erdheim-Chester disease. (18603080)
2008
32
Intracranial lesion of Erdheim-Chester disease. (17509397)
2007
33
An unusual case of Erdheim-Chester disease with features of Langerhans cell histiocytosis. (17492445)
2007
34
Erdheim-Chester disease: a rare cause of renal failure. (17395655)
2007
35
Bone involvement in Erdheim-Chester disease: imaging findings including periostitis and partial epiphyseal involvement. (16371583)
2006
36
Renal calculi in a patient with Erdheim-Chester disease. (16307316)
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
Erdheim-Chester disease. (12869045)
2003
40
Interferon therapy for orbital infiltration secondary to Erdheim-Chester disease. (11730673)
2001
41
Erdheim-Chester disease. A case report. (11499297)
2001
42
Two enlarged kidneys: a manifestation of Erdheim-Chester disease. (11509804)
2001
43
A case of Erdheim-Chester disease with bilateral orbital involvement. (12567744)
2001
44
Erdheim-Chester disease with intramuscular lipogranuloma. (10855472)
2000
45
Erdheim-Chester disease: radiographic findings in five patients. (9554002)
1998
46
Erdheim-Chester disease: a case report with immunohistochemical and biochemical examination. (8543320)
1996
47
Premature alveolar bone loss in Erdheim-Chester disease. (2216355)
1990
48
Langerhans cell histiocytosis with the radiographic findings of Erdheim-Chester disease. (3258103)
1988
49
Erdheim-Chester disease: computed tomography in two cases. (3923805)
1985
50
Gallium uptake in Erdheim-Chester disease. (7140108)
1982

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 37)
idSuper pathwaysScoreTop Affiliating Genes
19.7BRAF, NRAS
29.7BRAF, NRAS
39.7BRAF, NRAS
49.7BRAF, NRAS
59.7BRAF, NRAS
6
Show member pathways
9.7BRAF, NRAS
79.6BRAF, PIK3CA
89.6BRAF, PIK3CA
99.6BRAF, PIK3CA
109.6BRAF, PIK3CA
119.6NRAS, PIK3CA
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
22
Show member pathways
9.2BRAF, NRAS, PIK3CA
23
Show member pathways
9.2BRAF, NRAS, PIK3CA
24
Show member pathways
9.2BRAF, NRAS, PIK3CA
259.2BRAF, NRAS, PIK3CA
26
Show member pathways
9.2BRAF, NRAS, PIK3CA
279.1CCL2, SERPINA3
289.0CCR3, NRAS, PIK3CA
29
Show member pathways
8.9BRAF, CCL2, NRAS
30
Show member pathways
8.8BRAF, CCL2, PIK3CA
31
Show member pathways
8.8CCL2, NRAS, PIK3CA
328.8CCL2, NRAS, PIK3CA
33
Show member pathways
8.5CCL2, CCR3, CCR7
34
Show member pathways
8.1CCL2, CCR3, CCR7, NRAS
35
Show member pathways
7.7BRAF, CCL2, CCR3, CCR7, NRAS
36
Show member pathways
7.3BRAF, CCL2, CCR3, CCR7, NRAS, PIK3CA
37
Show member pathways
7.3BRAF, CCL2, CCR3, CCR7, 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 13)
idNameGO IDScoreTop Affiliating Genes
1ERBB2 signaling pathwayGO:003812810.1NRAS, PIK3CA
2epidermal growth factor receptor signaling pathwayGO:00071739.9NRAS, PIK3CA
3protein kinase B signalingGO:00434919.8CCL2, PIK3CA
4positive regulation of peptidyl-serine phosphorylationGO:00331389.6BRAF, PIK3CA
5positive regulation of cell adhesionGO:00457859.5CCL2, CCR7
6positive regulation of endothelial cell proliferationGO:00019389.5CCL2, CCR3
7chemokine-mediated signaling pathwayGO:00700989.3CCL2, CCR3
8MAPK cascadeGO:00001659.0BRAF, CCL2, NRAS
9vascular endothelial growth factor receptor signaling pathwayGO:00480108.9CCL2, PIK3CA
10positive regulation of ERK1 and ERK2 cascadeGO:00703748.8BRAF, CCL2, CCR7
11negative regulation of neuron apoptotic processGO:00435248.7BRAF, CCL2, PIK3CA
12chemotaxisGO:00069358.7CCL2, CCR3, CCR7
13inflammatory responseGO:00069548.2CCL2, CCR3, CCR7, SERPINA3

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

idNameGO IDScoreTop Affiliating Genes
1C-C chemokine receptor activityGO:00164939.3CCR3, CCR7

Sources for Erdheim-Chester Disease

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet