ECD
MCID: ERD001
MIFTS: 64

Erdheim-Chester Disease (ECD) malady

Bone diseases, Skin diseases categories

Summaries for Erdheim-Chester Disease

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42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 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: Erdheim-Chester Disease, also known as erdheim chester disease, is related to histiocytosis and meningioma, and has symptoms including acute abdominal pain/colic, pericardium anomalies/pericarditis/absence/cysts/pericardial effusion and osteolysis/osteoclasia/bone destruction/erosions. An important gene associated with Erdheim-Chester Disease is CCR7 (chemokine (C-C motif) receptor 7), and among its related pathways are Senescence and Autophagy and LDL Oxidation in Atherogenesis. The compounds pge2 and dexamethasone have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and skin, and related mouse phenotypes are nervous system and tumorigenesis.

Wikipedia:63 Erdheim–Chester disease (also known as Erdheim–Chester syndrome or polyostotic sclerosing... more...

Aliases & Classifications for Erdheim-Chester Disease

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 48Orphanet, 60UMLS, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Bone diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
erdheim-chester disease:
Age of onset: Adulthood; Age of death: Any age


Aliases & Descriptions:

erdheim-chester disease 8 42 48 60
erdheim chester disease 42
lipoid granulomatosis 42
ecd 42


External Ids:

Disease Ontology8 DOID:4329
MeSH34 D031249
NCIt39 C53972
MESH via Orphanet35 D031249
ICD10 via Orphanet26 D76.3
UMLS via Orphanet61 C0878675

Related Diseases for Erdheim-Chester Disease

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Erdheim-Chester Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 223)
idRelated DiseaseScoreTop Affiliating Genes
1histiocytosis31.3S100B
2meningioma30.7SST, S100B
3interstitial lung disease30.7IL1B, CCL2
4hypopituitarism30.3IGF1, SST
5atopic dermatitis30.3CCL4, CCL2, CCR3
6arthropathy30.3CRP, IL1B
7hypertension30.3CCL2, CRP, IGF1
8adenoma30.3BRAF, PRKG1, SST, IGF1
9tuberculosis30.3IL1B, CRP, CCL4, CCR7
10breast cancer30.3CCR6, CCR7, CCL4, CCR5, BRAF, IGF1
11atherosclerosis30.3CCL4, CCR5, CCL2, CCR3, CRP, IGF1
12alzheimer's disease30.1CCR3, S100B, SST, IL1B
13malaria29.9PRKG1
14aortic aneurysm29.8CRP
15pancreatitis29.8IL1B, SST, CRP
16pancreatic cancer29.8CCR6, CCR7, BRAF, SST, IGF1
17langerhans-cell histiocytosis10.8
18orbital disease10.8
19cerebritis10.7
20cerebellar disease10.7
21brain disease10.6
22breast disease10.6
23pericardial effusion10.6
24diabetes insipidus10.5
25liver disease10.5
26non-langerhans-cell histiocytosis10.5
27neurologic diseases10.5
28central nervous system disease10.5
29kidney disease10.5
30nervous system disease10.5
31skin disease10.5
32spinal cord disease10.5
33thyroiditis10.4
34coronary artery disease10.2
35ureteral obstruction10.2
36schnitzler syndrome10.2
37rhinoscleroma10.2
38hydronephrosis10.2
39familial hemiplegic migraine10.2
40coats disease10.2
41exophthalmos10.2
42portal hypertension10.2
43end stage renal failure10.2
44amyloidosis10.2
45cerebellar ataxia10.2
46dermatitis10.2
47eyelid disease10.2
48hypothalamic disease10.2
49migraine10.2
50multiple system atrophy10.2

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



Diseases related to erdheim-chester disease

Clinical Features for Erdheim-Chester Disease

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48Orphanet
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Symptoms:

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

Drugs & Therapeutics for Erdheim-Chester Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Erdheim-Chester Disease

Drug clinical trials:

Search ClinicalTrials for Erdheim-Chester Disease

Search NIH Clinical Center for Erdheim-Chester Disease

Search CenterWatch for Erdheim-Chester Disease

Genetic Tests for Erdheim-Chester Disease

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Anatomical Context for Erdheim-Chester Disease

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Sources:
32MalaCards
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MalaCards organs/tissues related to Erdheim-Chester Disease:

32
Bone, Lung, Skin, Brain, Pituitary, Bone marrow, Kidney, Cerebellum, Heart, Breast, Liver, Spinal cord, Thyroid, Testes, Endothelial, Lymph node

Animal Models for Erdheim-Chester Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Erdheim-Chester Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036319.5CCR6, CCR5, PRKG1
2MP:00020068.4IL1B, IGF1, BRAF, CCL2, CCR5
3MP:00053818.1CCR7, CCR5, CCL2, BRAF, PRKG1, SST
4MP:00053768.1CCR6, CCR7, CCR5, CCL2, CCR3, CRP
5MP:00028737.8CCR6, CCL2, BRAF, S100B, PRKG1, SST
6MP:00053977.6CCR6, CCR7, CCR5, CCL2, CCR3, BRAF
7MP:00053847.2CCR6, CCR7, CCR5, CCL2, CCR3, BRAF
8MP:00053857.1CCR5, CCL2, BRAF, CRP, PRKG1, IGF1
9MP:00053876.3IL1B, CCR6, CCR7, CCR5, CCL2, CCR3

Publications for Erdheim-Chester Disease

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Sources:
50PubMed
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Articles related to Erdheim-Chester Disease:

(show top 50)    (show all 318)
idTitleAuthorsYear
1
Erdheim-Chester disease: A rare cause of recurrent fever of unknown origin mimicking lymphoma. (24228820)
2014
2
Erdheim-Chester disease. (23597965)
2013
3
Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E mutation. (23258922)
2013
4
The multifaceted clinical presentations and manifestations of Erdheim-Chester disease: comprehensive review of the literature and of 10 new cases. (23396641)
2013
5
Erdheim-Chester disease--clinical pathological case discussion. (24032617)
2013
6
Virtual CT sonographically guided biopsy of a retroperitoneal mass in a patient with Erdheim-Chester disease. (24123060)
2013
7
A thirty-four-year-old woman with chronic dyspnea and pulmonary interlobular septal thickening. Erdheim-Chester Disease. (23652220)
2013
8
Postoperative cardiac homograft involvement in Erdheim-Chester disease. (22808847)
2012
9
Reply to commentary on "a case of erdheim-chester disease with asymptomatic renal involvement". (23341795)
2012
10
Immunopathological analysis of Erdheim-Chester disease with massive ascites. (23037484)
2012
11
Image of Erdheim-Chester disease requiring hemodialysis. (22864518)
2012
12
A case of erdheim-chester disease with asymptomatic renal involvement. (22802754)
2012
13
Erdheim-Chester disease associated with intramedullary spinal cord lesion. (22391503)
2012
14
Whole-body MRI in Erdheim-Chester disease. (22378719)
2012
15
F-18 FDG PET/CT detects muscle involvement in Erdheim-Chester disease. (22228352)
2012
16
Erdheim-Chester disease with extensive coronary arterial involvement. (21566495)
2011
17
Unusual manifestation of Erdheim-Chester disease. (21693070)
2011
18
Erdheim-Chester disease presenting with pneumothorax. (21934273)
2011
19
CNS involvement and treatment with interferon-I+ are independent prognostic factors in Erdheim-Chester disease: a multicenter survival analysis of 53 patients. (21239701)
2011
20
Interferon-alpha in cardiac Erdheim-Chester disease. (22152958)
2011
21
(18)F-FDG positron emission tomography/computed tomography and (99m)Tc-MDP skeletal scintigraphy in a case of Erdheim-Chester disease. (22087457)
2011
22
Erdheim-Chester disease: multisystem involvement and management with interferon-alpha. (19679354)
2010
23
Pulmonary involvement in Erdheim-Chester disease: a single-center study of thirty-four patients and a review of the literature. (20662053)
2010
24
Chemotherapy and interferon-alpha treatment of Erdheim-Chester disease. (20589628)
2010
25
Images in cardiovascular medicine. Cardiac involvement in Erdheim-Chester disease: magnetic resonance and computed tomographic scan imaging in a monocentric series of 37 patients. (19564564)
2009
26
Parallel occurrence of Erdheim-Chester disease and eosinophilic granuloma in the same patient. (18637864)
2009
27
Erdheim-Chester disease: pulmonary presentation in a case with advanced systemic involvement. (18460866)
2009
28
Radiotherapy for Erdheim-Chester disease. (17566851)
2007
29
Renal calculi in a patient with Erdheim-Chester disease. (16307316)
2005
30
Fulminant multisystem non-langerhans cell histiocytic proliferation with hemophagocytosis: a variant form of Erdheim-Chester disease. (15679446)
2005
31
Erdheim-Chester disease of the breast: a case report and review of the literature. (16297093)
2005
32
Images in cardiovascular medicine. High resolution images obtained with ultrasound and magnetic resonance imaging of pericarotid fibrosis in Erdheim-Chester disease. (15477423)
2004
33
Erdheim-Chester disease: MR imaging, anatomic, and histopathologic correlation of orbital involvement. (15090356)
2004
34
Myocardial involvement in Erdheim-Chester disease. (15163229)
2004
35
Imaging of thoracoabdominal involvement in Erdheim-Chester disease. (15505288)
2004
36
Erdheim-Chester disease of the breast associated with Langerhans-cell histiocytosis of the hard palate. (15338304)
2004
37
Erdheim-Chester disease of the brain: cytological features and differential diagnosis of a challenging case. (15540182)
2004
38
Erdheim-Chester disease in a child. (14595723)
2003
39
Erdheim-Chester disease: a unique presentation with liver involvement and vertebral osteolytic lesions. (12873197)
2003
40
Erdheim-Chester disease: case report, PCR-based analysis of clonality, and review of literature. (12065781)
2002
41
Erdheim-Chester disease: evidence for a disease entity different from Langerhans cell histiocytosis? Three cases with detailed radiological and immunohistochemical analysis. (10872668)
2000
42
Erdheim-Chester disease: a case report. (10402177)
1999
43
Erdheim-Chester disease: low low-density lipoprotein levels due to rapid catabolism. (9322810)
1997
44
Erdheim-Chester disease: a case report with immunohistochemical and biochemical examination. (8543320)
1996
45
Orbital and eyelid involvement with Erdheim-Chester disease. A report of two cases. (2043074)
1991
46
A xanthogranulomatous process encircling large blood vessels (Erdheim-Chester disease?). (3133188)
1988
47
Case report 365: Erdheim-Chester disease. (3726570)
1986
48
Erdheim-Chester disease: a distinct lipoidosis or part of the spectrum of histiocytosis? (6608118)
1984
49
Orbital manifestations of Erdheim-Chester disease. (6676981)
1983
50
Erdheim-Chester disease: case with chronic discharging sinus from bone. (6767377)
1980

Genetic Variations for Erdheim-Chester Disease

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Expression for genes affiliated with Erdheim-Chester Disease

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Erdheim-Chester Disease

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

Pathways for genes affiliated with Erdheim-Chester Disease

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Sources:
37NCBI BioSystems Database, 51QIAGEN, 12EMD Millipore, 29KEGG, 53Reactome
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Pathways related to Erdheim-Chester Disease according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0BRAF
29.6IL1B, CCL2
3
Hide members
9.4CCR6, CCR7, CCR5, CCR3
4
Hide members
9.4CCR6, CCR7, CCR5, CCR3
5
Hide members
9.3CCL4, CCL2
69.0CCL2, CRP, IL1B
79.0IGF1, PRKG1, BRAF
8
Hide members
8.9IL1B, CCR5, CCL4
9
Hide members
8.8CCR6, CCR7, CCR5, CCR3, BRAF
108.2CCR3, CCL2, CCR5, CCL4, CCR7, CCR6
11
Hide members
7.8CCR6, CCR7, CCL4, CCR5, CCL2, CCR3
12
Hide members
7.6CCR6, CCR7, CCL4, CCR5, CCL2, CCR3
13
Hide members
7.6CCR6, CCR7, CCL4, CCR5, CCL2, CCR3
14
Hide members
7.3IGF1, CCR3, CCL2, CCR5, CCL4, CCR7
15
Hide members
7.3CCR6, IL1B, IGF1, CCR3, CCL2, CCR5
16
Hide members
6.6CCR6, CCR7, CCL4, CCR5, CCL2, CCR3

Compounds for genes affiliated with Erdheim-Chester Disease

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Sources:
44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Erdheim-Chester Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 105)
idCompoundScoreTop Affiliating Genes
1pge24410.5SST
2dexamethasone44 49 28 1113.3S100B, CCR3
3norepinephrine44 11 2412.3CCR7, S100B
4[125i]ccl5 (human)2810.2CCR5, CCR3
5ccl22810.1CCR5, CCR3
6somatuline4410.0SST, IGF1
7ccl82810.0CCR5, CCR3
8ccl11289.9CCR5, CCR3
9muramyl tripeptide449.8CCL2, IL1B
10quinagolide449.7SST, IGF1
11glucose449.4PRKG1, IGF1, BRAF
12mcp 1449.4CCL2, CCR3, CCL4
13sulfasalazine44 28 49 1112.3CCL2, IL1B, CRP
14turpentine449.3CRP, IL1B
15nitroglycerin44 1110.2PRKG1, SST, CRP
16toxin-1449.2IL1B, CCL4, CCL2
17acth449.1IL1B, IGF1, S100B, SST
18aspartate449.1CCR5, CCL2, BRAF, PRKG1
19rantes449.1CCR6, CCR7, IL1B, CCL4
20mdms449.1CCL4, CCR5, CCL2, S100B
21triptolide449.0IL1B, CCL2, CCL4, CCR7
22actinomycin d449.0IL1B, CCR3, IGF1, CCL2, CCR5
23mip 1alpha448.9CCL4, CCL2, CCR5, IL1B
24genistein44 28 59 2 11 2413.9IL1B, IGF1, CCR3, CCL2, SST
25groalpha448.9CCL4, CCR5, CCL2, IL1B
26il 10448.9CCR5, CCL4, IL1B, CCL2
27larc448.9CCL2, CCR5, CCL4, CCR7, CCR6
28creatinine448.8CRP, IGF1, CCL4
29glutamine448.7CCL2, IGF1, CCR5, CRP, S100B
30thymidine44 249.7PRKG1, IL1B, CCR3, S100B, IGF1
31ivig448.6CRP, CCR5, CCL4, IL1B
32simvastatin44 49 59 28 11 2413.6CCL2, CCL4, CRP, CCR5
33rapamycin448.6SST, CRP, IGF1, BRAF, CCR5
34tarc448.6CCR5, CCL2, CCL4, CCR7, CCR6, CCR3
35arginine448.5S100B, IGF1, SST, BRAF, CCR5, CCL2
36ly294002448.4BRAF, IGF1, CRP, CCL2, IL1B
37ccl344 289.4CCR7, CCL4, CCR5, IL1B, CCL2, CCR3
38ccl444 289.3CCR5, CCL4, CCR3, CCR7, CCR6, CCL2
39histamine44 28 2410.3CCR5, CCL2, SST, CCR3, IL1B, CCL4
40testosterone44 59 11 2411.3IGF1, SST, CRP, S100B, PRKG1, CCL2
41pd 98,059448.2IL1B, CCL2, BRAF, IGF1, CCL4
42wortmannin448.2CCR3, IGF1, CCL4, CCL2, BRAF, S100B
43serine447.8CCL4, S100B, PRKG1, CCL2, CCR5
44alanine447.8CRP, S100B, BRAF, CCR5, CCL4, CCR3
45lipid447.7PRKG1, CCR6, CCR7, CCL2, CCR3, BRAF
46sb 20358044 598.7CRP, CCL2, IL1B, CCL4, BRAF, IGF1
47retinoic acid44 248.5S100B, IGF1, BRAF, CCL4, SST, IL1B
48tyrosine447.4PRKG1, CCR3, CCR5, CCL4, CCR7, BRAF
49calcium44 49 11 249.6CCR6, CCR7, PRKG1, CRP, S100B, BRAF
50vegf446.3CCL2, CRP, PRKG1, SST, IGF1, CCL4

GO Terms for genes affiliated with Erdheim-Chester Disease

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Sources:
16Gene Ontology
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Cellular components related to Erdheim-Chester Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:0058867.3CCR7, CCR5, CCR3, BRAF, CRP, PRKG1
2extracellular regionGO:0055766.8CCL4, CCL2, S100B, CRP, SST, IGF1
3extracellular spaceGO:0056156.8IL1B, CCL4, CCL2, CCR3, S100B, CRP

Biological processes related to Erdheim-Chester Disease according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1dendritic cell chemotaxisGO:0024079.9CCR5, CCR7, CCR6
2cellular defense responseGO:0069689.8CCR3, CCR5, CCR6
3elevation of cytosolic calcium ion concentrationGO:0072049.6CCR6, CCR7, CCR5, CCR3
4chemokine-mediated signaling pathwayGO:0700989.5CCR3, CCL2, CCR5, CCR6
5MAPK cascadeGO:0001659.4CCR5, CCL2, IL1B
6cell surface receptor signaling pathwayGO:0071669.4SST, CCL2, CCR5
7G-protein coupled receptor signaling pathwayGO:0071869.2CCR7, CCR5, CCL2, SST
8positive regulation of I-kappaB kinase/NF-kappaB cascadeGO:0431239.2CCR7, S100B, IL1B
9cellular component movementGO:0069288.9IGF1, CCL4, CCR6
10chemotaxisGO:0069358.7CCR6, CCL4, CCR5, CCL2, CCR3
11cell-cell signalingGO:0072678.6IL1B, SST, CCR5, CCL4
12immune responseGO:0069558.5CCR6, CCR7, CCL4, CCR5, IL1B
13signal transductionGO:0071657.8CCR6, CCL4, CCL2, PRKG1, IGF1, IL1B
14inflammatory responseGO:0069547.6IL1B, CCR7, CCL4, CCR5, CCL2, CCR3

Molecular functions related to Erdheim-Chester Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chemokine receptor activityGO:0049509.6CCR3, CCR5, CCR6
2C-C chemokine receptor activityGO:0164939.1CCR3, CCR5, CCR7, CCR6

Products for genes affiliated with Erdheim-Chester Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Erdheim-Chester Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet