ECD
MCID: ERD001
MIFTS: 67

Erdheim-Chester Disease (ECD) malady

Rare diseases, Bone diseases, Skin diseases, Immune diseases categories
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Summaries for Erdheim-Chester Disease

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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 based summary: Erdheim-Chester Disease, also known as erdheim chester disease, is related to interstitial lung disease and atopic dermatitis, and has symptoms including proptosis/exophthalmos, hyperhidrosis/increased sweating and xanthomas/lipomas. An important gene associated with Erdheim-Chester Disease is CCR6 (chemokine (C-C motif) receptor 6), and among its related pathways are LDL Oxidation in Atherogenesis and Neuropeptides signaling through G protein alpha i and G protein alpha q. The compounds ccl2 and [125i]ccl5 (human) have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and skin, and related mouse phenotypes are tumorigenesis and digestive/alimentary.

Wikipedia:65 Erdheim?Chester disease (also known as Erdheim?Chester syndrome or polyostotic sclerosing histiocytosis)... more...

Aliases & Classifications for Erdheim-Chester Disease

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 48Orphanet, 62UMLS, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Erdheim-Chester Disease, Aliases & Descriptions:

Name: Erdheim-Chester Disease 8 42 48 62
Erdheim Chester Disease 42
 
Lipoid Granulomatosis 42
Ecd 42


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:4329
MeSH34 D031249
NCIt39 C53972
MESH via Orphanet35 D031249
ICD10 via Orphanet26 D76.3
UMLS via Orphanet63 C0878675

Related Diseases for Erdheim-Chester Disease

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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 152)
idRelated DiseaseScoreTop Affiliating Genes
1interstitial lung disease31.0IL1B, CCL2
2atopic dermatitis30.7CCL2, CCR3, CCL4
3hypopituitarism30.5SST, IGF1
4tuberculosis30.3CRP, IL1B, CCL4, CCR7
5hypertension30.2CRP, CCL2, IGF1
6adenoma30.0IGF1, BRAF, PRKG1, SST
7breast cancer29.6IGF1, BRAF, CCR7, CCR5, CCR6, CCL4
8atherosclerosis29.3IGF1, CCL2, CCR5, CCR3, CCL4, IL1B
9histiocytosis10.9
10langerhans-cell histiocytosis10.9
11cerebritis10.7
12pericardial effusion10.6
13non-langerhans-cell histiocytosis10.6
14rosai-dorfman disease10.5S100B
15diabetes insipidus10.5
16meningioma10.5
17perineurioma10.5S100B
18malaria10.5PRKG1
19pilocytic astrocytoma10.4S100B
20pericarditis10.4
21thyroiditis10.4
22ataxia10.4
23bronchitis10.4CRP
24muckle-wells syndrome10.4IL1B
25clear cell sarcoma10.3S100B, BRAF
26leukemia, acute lymphoblastic 310.3CCR7, CCR5, CCR6
27membranous glomerulonephritis10.3CCR5, CCL2
28craniopharyngioma10.3IGF1
29proliferative vitreoretinopathy10.3CCL2, CCL4
30cerebellar ataxia10.3
31end stage renal failure10.3
32hematopoietic stem cell transplantation10.3
33multiple system atrophy10.3
34thrombocytopenia10.3
35ureteral obstruction10.3
36exophthalmos10.3
37schnitzler syndrome10.3
38familial hemiplegic migraine10.3
39portal hypertension10.3
40constrictive pericarditis10.3
41rhinoscleroma10.3
42hydronephrosis10.3
43amyloidosis10.3
44arthropathy10.3
45dermatitis10.3
46dystonia10.3
47migraine10.3
48nephrotic syndrome10.3
49panniculitis10.3
50paraplegia10.3

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:

48 (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 34)
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 the epiphyses 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
34 abnormality of immune system physiology occasional (7.5%) HP:0010978

Drugs & Therapeutics for Erdheim-Chester Disease

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Drug clinical trials:

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Search NIH Clinical Center for 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:

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

Animal Models for Erdheim-Chester Disease or affiliated genes

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MGI Mouse Phenotypes related to Erdheim-Chester Disease:

36 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.3IGF1, BRAF, CCL2, CCR5, IL1B
2MP:00053818.1BRAF, PRKG1, SST, CCL2, CCR7, CCR5
3MP:00053757.9IGF1, BRAF, PRKG1, CCL2
4MP:00053867.9S100B, CCR5, CCL2, SST, PRKG1, BRAF
5MP:00053697.8IGF1, BRAF, PRKG1, CCL2, CCR5
6MP:00028737.5IGF1, BRAF, PRKG1, SST, CCL2, CCR6
7MP:00053847.4IGF1, BRAF, PRKG1, CCL2, CCR7, CCR5
8MP:00053857.1IGF1, BRAF, PRKG1, CCL2, CCR5, IL1B
9MP:00053976.8IGF1, BRAF, PRKG1, CCL2, CCR7, CCR5
10MP:00036316.7IGF1, BRAF, PRKG1, SST, CCL2, CCR7
11MP:00053876.1CRP, IGF1, BRAF, PRKG1, SST, CCL2
12MP:00053766.0SST, PRKG1, BRAF, IGF1, CCL2, CCR7

Publications for Erdheim-Chester Disease

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Articles related to Erdheim-Chester Disease:

(show top 50)    (show all 335)
idTitleAuthorsYear
1
High-dose methotrexate for the treatment of relapsed central nervous system erdheim-chester disease. (25031876)
2014
2
Constrictive pericarditis in Erdheim-Chester disease: an integrated echocardiographic and magnetic resonance approach. (24768396)
2014
3
Gastrointestinal Erdheim-Chester disease. (24908861)
2014
4
Thoracic, abdominal and musculoskeletal involvement in Erdheim-Chester disease: CT, MR and PET imaging findings. (25017251)
2014
5
BRAF V600E mutations in urine and plasma cell-free DNA from patients with Erdheim-Chester disease. (25003820)
2014
6
Association of both Langerhans cell histiocytosis and Erdheim-Chester disease linked to the BRAFV600E mutation. (24894769)
2014
7
Erdheim-Chester disease and Schnitzler syndrome: so near, and yet so far. (24046179)
2013
8
Erdheim-Chester disease: an uncommon cause of upper urinary tract obstruction. (24088590)
2013
9
Erdheim-Chester Disease With Prominent Pericardial Effusion: Cytologic Findings and Review of the Literature. (23447119)
2013
10
BRAF mutations in Erdheim-Chester disease. (23248255)
2013
11
Hand-SchA1ller-Christian disease and Erdheim-Chester disease: coexistence and discrepancy. (23299772)
2013
12
Paroxysmal exertion-induced dystonia secondary to Erdheim-Chester disease. (22980524)
2013
13
Erdheim-Chester disease. (23597965)
2013
14
Postoperative cardiac homograft involvement in Erdheim-Chester disease. (22808847)
2012
15
Histiocytosis for the neurologist: a case of Erdheim-Chester disease. (22976062)
2012
16
Pericardial effusion as a crucial presentation of Erdheim-Chester disease in a hemodialysis patient: an overlooked diagnosis. (22732342)
2012
17
Reply to commentary on "a case of erdheim-chester disease with asymptomatic renal involvement". (23341795)
2012
18
Erdheim-Chester disease with extensive coronary arterial involvement. (21566495)
2011
19
Erdheim-Chester disease. (20949296)
2011
20
Erdheim-Chester disease: multisystem involvement and management with interferon-alpha. (19679354)
2010
21
Pulmonary involvement in Erdheim-Chester disease: a single-center study of thirty-four patients and a review of the literature. (20662053)
2010
22
A case of osteoarthropathy due to Erdheim-Chester disease with overlapping Langerhans' cell infiltration. (20558949)
2010
23
Non-Langerhans cell histiocytosis with isolated CNS involvement: an unusual variant of Erdheim-Chester disease. (20337948)
2010
24
Polyostotic sclerosing histiocytosis (Erdheim-Chester disease) treated with combined vertebroplasty and radiation therapy. (20968148)
2010
25
18F-fluorodeoxyglucose-positron emission tomography scanning is more useful in followup than in the initial assessment of patients with Erdheim-Chester disease. (19790052)
2009
26
A rare histiocytosis with severe cardiac involvement: Erdheim-Chester disease. (18717219)
2008
27
Unmasked diabetes insipidus after pericardial drainage and biopsy for pericardial effusion in association with Erdheim-Chester disease. (18603080)
2008
28
Intracranial lesion of Erdheim-Chester disease. (17509397)
2007
29
Tc-99m MDP bone scintigraphy and positron emission tomography/computed tomography (PET/CT) imaging in Erdheim-Chester disease. (17179801)
2007
30
Radiotherapy for Erdheim-Chester disease. (17566851)
2007
31
An unusual case of Erdheim-Chester disease with features of Langerhans cell histiocytosis. (17492445)
2007
32
Laparoscopic biopsy and ureterolysis in Erdheim-Chester disease. (15819294)
2005
33
Diagnosis of Erdheim-Chester disease by using computerized tomography-guided stereotactic biopsy of a caudate lesion. Case report. (15352612)
2004
34
Erdheim-Chester disease mimicking a primary brain tumor. Case report. (15200134)
2004
35
Images in neuroscience: question. Erdheim-Chester disease. (14975419)
2004
36
Images in cardiovascular medicine. High resolution images obtained with ultrasound and magnetic resonance imaging of pericarotid fibrosis in Erdheim-Chester disease. (15477423)
2004
37
Erdheim-Chester disease. (12869045)
2003
38
Erdheim-Chester disease with early onset atherosclerosis and a pseudo-malignant phase. (12594120)
2003
39
Failure of radiation therapy for brain involvement in Erdheim Chester disease. (12241111)
2002
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
Pulmonary involvement with Erdheim-Chester disease: radiographic and CT findings. (10789787)
2000
44
Erdheim-Chester disease with intramuscular lipogranuloma. (10855472)
2000
45
Pseudotumoral bilateral involvement of the breast in Erdheim-Chester disease: CT appearance. (10752893)
2000
46
Erdheim-Chester disease: radiographic findings in five patients. (9554002)
1998
47
Erdheim-Chester disease: a case report with immunohistochemical and biochemical examination. (8543320)
1996
48
Erdheim-Chester disease with epiphyseal and systemic disease. (8320335)
1993
49
Langerhans cell histiocytosis with the radiographic findings of Erdheim-Chester disease. (3258103)
1988
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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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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Pathways related to Erdheim-Chester Disease according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5IL1B, CCL2
2
Show member pathways
Peptide GPCRs37
9.4CCR6, CCR3, CCR5, CCR7
3
Show member pathways
9.3BRAF, CCR5, IL1B
4
Show member pathways
9.1S100B, IL1B, CCL4
5
Show member pathways
Immune response IL 12 induced IFN gamma production60
9.1CCR5, CCL4, IL1B
6
Show member pathways
thioredoxin pathway37
9.1CRP, IL1B, CCL2
7
Show member pathways
Toll-like receptor signaling pathway37
Regulation of toll-like receptor signaling pathway37
9.0IL1B, CCL4, CCL2
89.0IGF1, BRAF, IL1B
98.7PRKG1, BRAF, IGF1
10
Show member pathways
8.4CCL4, CCL2, CCR7, CCR5, CCR3, CCR6
11
Show member pathways
8.1SST, CCL2, CCR7, CCR5, CCR3, CCR6
12
Show member pathways
8.0BRAF, CCL2, CCR7, CCR5, CCR3, CCR6
13
Show member pathways
8.0BRAF, CCL2, CCR7, CCR5, CCR3, CCR6
14
Show member pathways
8.0IGF1, BRAF, CCL2, CCL4, IL1B
15
Show member pathways
7.5BRAF, CCL2, CCR7, CCR5, CCR3, CCR6
16
Show member pathways
7.3CCL4, CCR6, CCR3, CCR5, CCR7, CCL2
17
Show member pathways
7.3IGF1, IL1B, CCL4, CCR6, CCR3, CCR5
18
Show member pathways
6.9IGF1, BRAF, CCL2, CCR7, CCR5, CCR3
19
Show member pathways
6.0IGF1, BRAF, PRKG1, SST, CCL2, CCR7

Compounds for genes affiliated with Erdheim-Chester Disease

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Compounds related to Erdheim-Chester Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 138)
idCompoundScoreTop Affiliating Genes
1ccl2289.9CCR3, CCR5
2[125i]ccl5 (human)289.9CCR3, CCR5
3mcp 1449.6CCL4, CCL2, CCR3
4turpentine449.5CRP, IL1B
5somatuline449.4IGF1, SST
6toxin-1449.4CCL4, IL1B, CCL2
7mdms449.4CCR5, CCL2, CCL4, S100B
8omeprazole44 50 28 24 1113.3SST, IL1B, CRP
9sulfasalazine28 44 50 1112.3CRP, IL1B, CCL2
10muramyl tripeptide449.2IL1B, CCL2
11triptolide449.2IL1B, CCR7, CCL2, CCL4
12larc449.1CCL4, CCL2, CCR7, CCR5, CCR6
13mip 1alpha449.1CCR5, IL1B, CCL2, CCL4
14groalpha449.1IL1B, CCL2, CCR5, CCL4
15il 10449.1CCR5, CCL4, CCL2, IL1B
16simvastatin44 50 61 28 24 1114.0CCL2, CCL4, CRP, CCR5
17ivig449.0CCL4, CRP, CCR5, IL1B
18norepinephrine44 24 1111.0S100B, CRP, CCR7, CCL2, SST
19nitroglycerin44 1110.0PRKG1, SST, CRP
20tarc448.9CCR6, CCR5, CCL2, CCR7, CCR3, CCL4
21acth448.8SST, IL1B, IGF1, S100B
22endotoxin448.8CCL2, CCL4, IL1B, CRP
23rapamycin448.7IGF1, BRAF, SST, CRP, CCR5
24glutamine448.7S100B, CRP, CCR5, CCL2, IGF1
25actinomycin d448.6IL1B, IGF1, CCL2, CCR5, CCR3
26genistein44 28 61 2 24 1113.6IL1B, CCL2, IGF1, SST, CCR3
27ccl344 289.6CCL2, CCR7, CCR5, CCR3, CCL4, IL1B
28ccl444 289.6CCR6, CCL2, CCR7, CCR5, CCR3, CCL4
29histamine44 28 2410.5IL1B, CCL4, CCR3, CCR5, CCL2, SST
30pge2448.5SST, CCL2, CCR5, CCL4, IL1B, CCR7
31ly294002448.4IL1B, CCL2, IGF1, CRP, BRAF
32arginine448.4CCR5, S100B, SST, BRAF, IGF1, CCL2
33creatinine448.4CCL2, CRP, CCL4, IGF1, S100B
34wortmannin448.4BRAF, CCL2, CCR3, CCL4, S100B, IGF1
35pd 98,059448.4BRAF, CCL2, CCL4, IL1B, IGF1
36alanine448.3CCR7, BRAF, CCL4, CCR5, CCR3, S100B
37rantes448.3CCL2, CCR7, CCR5, CCR3, CCR6, CCL4
38aspartate448.2CRP, BRAF, PRKG1, S100B, CCR5, CCL2
39thymidine44 249.2S100B, CCR3, PRKG1, IGF1, IL1B
40sb 20358044 619.0IGF1, BRAF, CCL2, CCL4, IL1B, CRP
41cycloheximide448.0CRP, IL1B, CCL4, CCL2, SST, IGF1
42testosterone44 61 24 1110.9S100B, CCL2, SST, PRKG1, CRP, IGF1
43lipid447.7BRAF, PRKG1, CCL2, CCR7, CCR3, CCR6
44retinoic acid44 248.6CCR5, CCL4, S100B, IL1B, IGF1, BRAF
45dexamethasone44 50 28 1110.6CCR3, S100B, SST, CCL2, CCR5, CCL4
46glucose447.5SST, PRKG1, BRAF, IGF1, S100B, CRP
47serine447.4IGF1, PRKG1, CCL2, CCR5, CCL4, S100B
48tyrosine447.3PRKG1, IGF1, S100B, CCR7, CCR5, CCR3
49calcium44 50 24 119.9PRKG1, CRP, CCR6, CCR3, CCR5, CCR7
50vegf446.3PRKG1, S100B, CRP, IL1B, CCL4, CCR6

GO Terms for genes affiliated with Erdheim-Chester Disease

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Cellular components related to Erdheim-Chester Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neuronal cell bodyGO:0430259.4S100B, CCL2, SST
2extracellular spaceGO:0056157.3S100B, IGF1, SST, CCL2, CCL4, IL1B
3plasma membraneGO:0058867.2IGF1, BRAF, PRKG1, CCR7, CCR5, CCR3
4extracellular regionGO:0055767.2IGF1, SST, CCL2, CCL4, IL1B, CRP

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1dendritic cell chemotaxisGO:00240710.0CCR6, CCR5, CCR7
2response to amino acidGO:0432009.9SST, CCL2
3cellular defense responseGO:0069689.9CCR5, CCR3, CCR6
4cellular response to calcium ionGO:0712779.8CRP, BRAF
5lipopolysaccharide-mediated signaling pathwayGO:0316639.7IL1B, CCL2
6response to heatGO:0094089.7CCL2, SST
7protein kinase B signalingGO:0434919.7CCL2, IL1B
8positive regulation of cytosolic calcium ion concentrationGO:0072049.7CCR7, CCR5, CCR3, CCR6
9positive regulation of I-kappaB kinase/NF-kappaB signalingGO:0431239.6S100B, IL1B, CCR7
10cell surface receptor signaling pathwayGO:0071669.6CCR5, CCL2, SST
11cellular response to organic cyclic compoundGO:0714079.6CCL2, IL1B
12chemotaxisGO:0069359.5CCR6, CCR3, CCR5, CCL2
13blood vessel remodelingGO:0019749.5CCR5, IGF1
14MAPK cascadeGO:0001659.5IL1B, CCR5, CCL2
15positive regulation of mitosisGO:0458409.5IL1B, IGF1
16G-protein coupled receptor signaling pathwayGO:0071869.4CCR5, CCR7, CCL2, SST
17cellular component movementGO:0069289.3IGF1, CCR6, CCL4
18chemokine-mediated signaling pathwayGO:0700989.3CCR6, CCR3, CCR5, CCR7, CCL2
19neutrophil chemotaxisGO:0305939.2IL1B, CCL2
20extrinsic apoptotic signaling pathway in absence of ligandGO:0971929.2IL1B, IGF1
21cell-cell signalingGO:0072679.1IL1B, CCL4, CCR5, SST
22immune responseGO:0069558.9CCR7, CCR5, CCR6, CCL4, IL1B
23inflammatory responseGO:0069548.0CCL2, CCR7, CCR5, CCR3, CCL4, IL1B
24signal transductionGO:0071657.6IGF1, PRKG1, CCL2, CCR6, CCL4, IL1B

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

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

Products for genes affiliated with Erdheim-Chester Disease

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet