ECD
MCID: ERD001
MIFTS: 58

Erdheim-Chester Disease (ECD) malady

Bone, Skin categories

Summaries for Erdheim-Chester Disease

Sources:
43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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 atopic dermatitis and arthropathy, and has symptoms including epiphyseal anomaly, nausea/vomiting/regurgitation/merycism/hyperemesis and cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia. 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 skin, liver and spinal cord, and related mouse phenotypes are nervous system and tumorigenesis.

Wikipedia:64 Erdheim–Chester disease (also known as Erdheim–Chester syndrome or polyostotic sclerosing... more...

Aliases & Classifications for Erdheim-Chester Disease

Sources:
8Disease Ontology, 43NIH Rare Diseases, 49Orphanet, 61UMLS, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
erdheim-chester disease:
Age of onset: Adulthood; Age of death: Any age


Aliases & Descriptions:

erdheim-chester disease 8 43 49 61
erdheim chester disease 43
lipoid granulomatosis 43
ecd 43


External Ids:

Disease Ontology8 DOID:4329
MeSH35 D031249
NCIt40 C53972
MESH via Orphanet36 D031249
ICD10 via Orphanet26 D76.3
UMLS via Orphanet62 C0878675

Related Diseases for Erdheim-Chester Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to erdheim-chester disease

Clinical Features for Erdheim-Chester Disease

Sources:
49Orphanet
See all sources


Symptoms:

49 (show all 43)
  • epiphyseal anomaly
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • hypereflexia
  • nystagmus
  • ptosis
  • hyperhidrosis/increased sweating
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • ataxia/incoordination/trouble of the equilibrium
  • elocution disorders/dysarthria/dysphonia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • early death/lethality
  • osteonecrosis/bone infarction
  • mild visual loss/impaired visual acuity
  • diabetes insipidus
  • late puberty/hypogonadism/hypogenitalism
  • thirst
  • asthenia/fatigue/weakness
  • renal failure
  • fever/chilling
  • hydrarthrosis/articular/joint effusion
  • lung fibrosis
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • anaemia
  • osteosclerosis/osteopetrosis/bone condensation
  • cutaneous rash
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • metaphyseal anomaly
  • heart/cardiac failure
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • cough
  • 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

Drugs & Therapeutics for Erdheim-Chester Disease

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for Erdheim-Chester Disease

Sources:
33MalaCards
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MalaCards organs/tissues related to Erdheim-Chester Disease:

33
Skin, Liver, Spinal cord, Brain, Kidney, Lymph node, Lung, Bone marrow, Whole blood, Skeletal muscle, Thyroid, Breast, B cells, Endothelial, Pituitary

Animal Models for Erdheim-Chester Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Erdheim-Chester Disease

Sources:
51PubMed
See all sources

Articles related to Erdheim-Chester Disease:

(show top 50)    (show all 318)
idTitleAuthorsYear
1
Imaging in Erdheim-Chester disease: classic features and new insights. (24428974)
2014
2
Erdheim-Chester disease: an uncommon cause of upper urinary tract obstruction. (24088590)
2013
3
Erdheim-Chester Disease With Prominent Pericardial Effusion: Cytologic Findings and Review of the Literature. (23447119)
2013
4
Portal hypertension and ascites secondary to Erdheim Chester Disease without intrinsic liver involvement on liver biopsy. (23796550)
2013
5
Detection of an NRAS mutation in Erdheim-Chester disease. (23929840)
2013
6
Erdheim-Chester disease: An unusual presentation of an uncommon disease. (24366632)
2013
7
Pericardial effusion as a crucial presentation of Erdheim-Chester disease in a hemodialysis patient: an overlooked diagnosis. (22732342)
2012
8
Erdheim-Chester disease presenting with an intramedullary spinal cord lesion. (22638564)
2012
9
Erdheim-Chester disease harboring the BRAF V600E mutation. (23008323)
2012
10
Erdheim-Chester disease in a female cardiac surgery patient. (21594819)
2012
11
Erdheim-Chester disease with multisystem involvement in a 4-year-old. (21879308)
2012
12
Progressive dysphagia caused by Erdheim-Chester disease. (22466415)
2012
13
Erdheim-Chester disease: The role of video-assisted thoracoscopic surgery in diagnosing and treating cardiac involvement. (22288060)
2012
14
Polyostotic sclerosing histiocytosis (Erdheim-Chester disease) treated with combined vertebroplasty and radiation therapy. (20968148)
2010
15
Erdheim-Chester disease: a case report with pulmonary, kidney involvement and bone lesions. (19588143)
2010
16
Erdheim-chester disease presenting as bilateral clinically malignant breast masses. (20216377)
2010
17
Erdheim-Chester disease: CT findings of thoracic involvement. (20563815)
2010
18
18F-fluorodeoxyglucose-positron emission tomography scanning is more useful in followup than in the initial assessment of patients with Erdheim-Chester disease. (19790052)
2009
19
Cardiac magnetic resonance characterization of atrial pseudo-mass in Erdheim-Chester disease. (19825811)
2009
20
Erdheim-Chester disease: clinical and radiological findings. (19915998)
2009
21
Unmasked diabetes insipidus after pericardial drainage and biopsy for pericardial effusion in association with Erdheim-Chester disease. (18603080)
2008
22
A case of cerebral erdheim-chester disease with progressive cerebellar syndrome. (19513325)
2008
23
Retroperitoneal infiltration as the first sign of Erdheim-Chester disease. (18452465)
2008
24
Erdheim-Chester disease with cutaneous features in an Indian patient. (18327007)
2008
25
Multisystem Erdheim-Chester disease; a unique presentation with liver and axial skeletal involvement. (17553060)
2007
26
Orbital involvement in Erdheim-Chester disease. (17548915)
2007
27
Mesenteric panniculitis and Erdheim-Chester disease: xanthogranulomatous diseases confused with malignancy. (17254937)
2007
28
Palliative treatment of Erdheim-Chester disease with radiotherapy: a Rare Cancer Network study. (16959346)
2006
29
18F-FDG positron emission tomographic imaging in Erdheim-Chester disease with skeletal and extra-skeletal involvement. (16753885)
2006
30
Diagnosis of Erdheim-Chester disease by using computerized tomography-guided stereotactic biopsy of a caudate lesion. Case report. (15352612)
2004
31
Erdheim-Chester disease: case report with multisystemic manifestations including testes, thyroid, and lymph nodes, and a review of literature. (15509691)
2004
32
Erdheim-Chester disease: a case report. (15221300)
2004
33
Erdheim-Chester disease. (12755215)
2003
34
Erdheim-Chester disease with prominent pericardial involvement: clinical, radiologic, and histologic findings. (12186113)
2002
35
Spinal dural involvement in Erdheim-Chester disease: MRI findings. (12483447)
2002
36
Two enlarged kidneys: a manifestation of Erdheim-Chester disease. (11509804)
2001
37
Cardiac tumor due to Erdheim-Chester disease. (11755517)
2001
38
Erdheim-Chester disease of the retroperitoneum: a rare cause of ureteral obstruction. (11312207)
2001
39
Erdheim-Chester disease. (11584952)
2001
40
Erdheim Chester disease: a rare cause of knee and leg pain. (10653118)
2000
41
Neurological manifestations of Erdheim-Chester disease. (9886456)
1999
42
Erdheim-Chester disease: radiographic findings in five patients. (9554002)
1998
43
Erdheim-Chester disease with prominent pulmonary involvement associated with eosinophilic granuloma of mandibular bone. (9147084)
1997
44
Erdheim-Chester disease. Clinical and radiologic characteristics of 59 cases. (8965684)
1996
45
Erdheim-Chester disease and slowly progressive cerebellar dysfunction. (7876861)
1995
46
Erdheim-Chester disease involving breast and muscle: imaging findings. (7717216)
1995
47
Retroperitoneal xanthogranuloma in a patient with Erdheim-Chester disease. (8037299)
1994
48
Erdheim-Chester disease associated with hydrocalycosis and arthropathy. (3422024)
1988
49
Erdheim-Chester disease. Case report and review of the literature. (3728520)
1986
50
Gallium uptake in Erdheim-Chester disease. (7140108)
1982

Genetic Variations for Erdheim-Chester Disease

Expression for genes affiliated with Erdheim-Chester Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 52QIAGEN, 12EMD Millipore, 30KEGG, 54Reactome
See all sources

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

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB, 60Tocris Bioscience, 2BitterDB
See all sources

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

(show top 50)    (show all 105)
idCompoundScoreTop Affiliating Genes
1pge24510.5SST
2dexamethasone45 50 29 1113.3S100B, CCR3
3norepinephrine45 11 2412.3S100B, CCR7
4[125i]ccl5 (human)2910.2CCR5, CCR3
5ccl22910.1CCR5, CCR3
6ccl82910.0CCR5, CCR3
7somatuline4510.0SST, IGF1
8ccl112910.0CCR5, CCR3
9quinagolide459.7IGF1, SST
10muramyl tripeptide459.6CCL2, IL1B
11glucose459.4BRAF, PRKG1, IGF1
12mcp 1459.4CCL4, CCL2, CCR3
13sulfasalazine45 29 50 1112.3IL1B, CRP, CCL2
14turpentine459.3CRP, IL1B
15nitroglycerin45 1110.2CRP, PRKG1, SST
16toxin-1459.2CCL4, CCL2, IL1B
17acth459.1S100B, SST, IGF1, IL1B
18aspartate459.1CCR5, CCL2, BRAF, PRKG1
19rantes459.1IL1B, CCL4, CCR7, CCR6
20mdms459.1CCL4, CCR5, CCL2, S100B
21triptolide459.0CCR7, CCL4, CCL2, IL1B
22actinomycin d459.0CCR5, CCL2, CCR3, IGF1, IL1B
23mip 1alpha458.9CCL4, CCR5, CCL2, IL1B
24genistein45 29 60 2 11 2413.9CCL2, CCR3, SST, IGF1, IL1B
25groalpha458.9CCL4, CCR5, CCL2, IL1B
26il 10458.9CCL4, CCR5, CCL2, IL1B
27larc458.9CCR6, CCR7, CCL4, CCR5, CCL2
28creatinine458.8IGF1, CRP, CCL4
29glutamine458.7CCR5, CCL2, S100B, CRP, IGF1
30thymidine45 249.7IL1B, IGF1, PRKG1, S100B, CCR3
31ivig458.6CCL4, CCR5, CRP, IL1B
32simvastatin45 50 60 29 11 2413.6CRP, CCL2, CCR5, CCL4
33rapamycin458.6CCR5, BRAF, CRP, SST, IGF1
34tarc458.6CCR6, CCR7, CCL4, CCR5, CCL2, CCR3
35arginine458.5CCR5, CCL2, BRAF, S100B, SST, IGF1
36ly294002458.4IL1B, IGF1, CRP, BRAF, CCL2
37ccl345 299.4CCR7, CCL4, CCR5, CCL2, CCR3, IL1B
38ccl445 299.3S100B, CCR6, CCR7, CCL4, CCR5, CCL2
39histamine45 29 2410.3CCL4, CCR5, CCL2, CCR3, SST, IL1B
40testosterone45 60 11 2411.3CCL2, S100B, CRP, PRKG1, SST, IGF1
41pd 98,059458.2CCL4, CCL2, BRAF, IGF1, IL1B
42wortmannin458.2CCL4, CCL2, CCR3, BRAF, S100B, IGF1
43serine457.8CCL4, CCR5, CCL2, S100B, PRKG1
44alanine457.8CCR7, CCL4, CCR5, CCR3, BRAF, S100B
45lipid457.7CCR6, CCR7, CCL2, CCR3, BRAF, S100B
46sb 20358045 608.7CCL4, CCL2, BRAF, CRP, IGF1, IL1B
47retinoic acid45 248.5CCL4, CCR5, CCR3, BRAF, S100B, SST
48tyrosine457.4CCR7, CCL4, CCR5, CCR3, BRAF, S100B
49calcium45 50 11 249.6CCR6, CCR7, CCL4, CCR5, CCL2, CCR3
50vegf456.3CCR6, CCL4, CCL2, BRAF, S100B, CRP

GO Terms for genes affiliated with Erdheim-Chester Disease

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Erdheim-Chester Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet