Erdheim-Chester disease

Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement.



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Narrow down the case reports



Total: 266 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(47.8%)		 18172449
 A case of Erdheim-Chester disease initially mistaken for Ormond's disease.
Loddenkemper K, Hoyer B, Loddenkemper C, Hermann KG, Rogalla P, Forster G, Buttgereit F, Hiepe F, Burmester GR.
Nat Clin Pract Rheumatol. 2008;4(1):50-5.
Anemia Fever Retroperitoneal fibrosis
B2M CRP
Anemia Antineoplastic Agents Differential Diagnosis Erdheim-Chester Disease Homo sapiens Hydronephrosis Interferon Type I Male Middle Aged Recombinant Proteins
2
(41.6%)		 21935854
 [Recurrent pericardial effusion as first manifestation of Erdheim-Chester disease].
Lutz SZ, Schmalzing M, Vogel-Claussen J, Adam P, May AE.
Dtsch Med Wochenschr. 2011;136(39):1952-6.
Pericardial effusion Microcytic anemia Retroperitoneal fibrosis
Differential Diagnosis Erdheim-Chester Disease Fatal Outcome Females Homo sapiens Immunosuppressive Agents Middle Aged Secondary Prevention
3
(37.6%)		 27237445
(4917079)
 The First Reported Case of Erdheim-Chester Disease in Egypt with Bilateral Exophthalmos, Loss of Vision, and Multi-Organ Involvement in a Young Woman.
Abdellateef EE, Abdelhai AR, Gawish HH, Abdulmonaem GA, Abdelbary EH, Ahmed AI.
Am J Case Rep. 2016;17:360-70.
Hydronephrosis Pericardial effusion Anemia Pleural effusion
CD1A CD68
Blindness Dyspnea Egypt Erdheim-Chester Disease Exophthalmos Females Homo sapiens Hydronephrosis Rare Diseases Young Adult
4
(37.6%)		 24366632
 Erdheim-Chester disease: an unusual presentation of an uncommon disease.
Bindra J, Lam A, Lamba R, VanNess M, Boutin RD.
Skeletal Radiol. 2014;43(6):835-40.
Normochromic anemia Lymphadenopathy
Erdheim-Chester Disease Females Homo sapiens Middle Aged Rare Diseases
5
(37.1%)		 12186113
 Erdheim-Chester disease with prominent pericardial involvement: clinical, radiologic, and histologic findings.
Gupta A, Kelly B, McGuigan JE.
Am J Med Sci. 2002;324(2):96-100.
Jaundice Histiocytosis
CD1A CD68
Adult Biopsy Cardiac Tamponade Differential Diagnosis Females Histiocytosis, Non-Langerhans-Cell Homo sapiens
6
(36.3%)		 17037989
 Biliary manifestation of Erdheim-Chester disease mimicking Klatskin's carcinoma.
Gundling F, Nerlich A, Heitland WU, Schepp W.
Am J Gastroenterol. 2007;102(2):452-4.
Cholestasis Histiocytosis
Bile Duct Neoplasms Biopsy Cholestasis Common Hepatic Duct Differential Diagnosis Endoscopic Retrograde Cholangiopancreatography Erdheim-Chester Disease Follow-Up Studies Homo sapiens Klatskin Tumor Male Middle Aged
7
(33.8%)		 25840575
 Correlative bone imaging in a case of Schnitzler's syndrome and brief review of the literature.
Willekens I, Walgraeve N, Goethals L, De Geeter F.
Hell J Nucl Med. 2015;18(1):71-3.
Skin rash Recurrent fever Leukocytosis
Biopsy Bone and Bones Exanthema Homo sapiens Interleukin 1 Receptor Antagonist Protein Leukocytosis Magnetic Resonance Imaging Male Middle Aged Radionuclide Imaging Schnitzler Syndrome Skin Whole Body Imaging
8
(33.5%)		 14749985
 Improvement of Erdheim-Chester disease in two patients by sequential treatment with vinblastine and mycophenolate mofetil.
Jendro MC, Zeidler H, Rosenthal H, Haller H, Schwarz A.
Clin Rheumatol. 2004;23(1):52-6.
Plethora Histiocytosis
Antineoplastic Agents, Phytogenic Combination Drug Therapy Drug Administration Schedule Erdheim-Chester Disease Follow-Up Studies Homo sapiens Immunosuppressive Agents Male Middle Aged
9
(32.9%)		 24228820
 Erdheim-Chester disease: a rare cause of recurrent fever of unknown origin mimicking lymphoma.
Mariampillai A, Sivapiragasam A, Kumar A, Hindenburg A, Cunha BA, Zhou J.
Scand J Infect Dis. 2014;46(1):76-9.
Hepatosplenomegaly Recurrent fever
Biopsy Bone and Bones Differential Diagnosis Erdheim-Chester Disease Fever of Unknown Origin Histocytochemistry Homo sapiens Immunohistochemistry Lymphoma Male Positron-Emission Tomography Young Adult
10
(32.8%)		 29485431
 FDG PET/CT Findings of Erdheim-Chester Disease: Radiologic Response to a Novel Treatment Regimen.
Akin EA, Osman M, Ellenbogen AL.
Clin Nucl Med. 2018;43(5):337-340.
Vomiting Hyperlipidemia Histiocytosis
BRAF CD163 CD68 MAP2K7 S100A1
Erdheim-Chester Disease Homo sapiens Male Radiopharmaceuticals
        

Phenotype(s) retrieved from Orphanet

    Total: 41

HPO ID Term Frequency
HP:0000520 Proptosis Very frequent (99-80%)
HP:0000873 Diabetes insipidus Very frequent (99-80%)
HP:0000944 Abnormality of the metaphysis Very frequent (99-80%)
HP:0000975 Hyperhidrosis Very frequent (99-80%)
HP:0001114 Xanthelasma Very frequent (99-80%)
HP:0001824 Weight loss Very frequent (99-80%)
HP:0001945 Fever Very frequent (99-80%)
HP:0001959 Polydipsia Very frequent (99-80%)
HP:0002653 Bone pain Very frequent (99-80%)
HP:0002754 Osteomyelitis Very frequent (99-80%)
HP:0002797 Osteolysis Very frequent (99-80%)
HP:0003335 obsolete Low gonadotropins (secondary hypogonadism) Very frequent (99-80%)
HP:0005930 Abnormality of epiphysis morphology Very frequent (99-80%)
HP:0011001 Increased bone mineral density Very frequent (99-80%)
HP:0012378 Fatigue Very frequent (99-80%)
HP:0100518 Dysuria Very frequent (99-80%)
HP:0000126 Hydronephrosis Frequent (79-30%)
HP:0001386 Joint swelling Frequent (79-30%)
HP:0001646 Abnormal aortic valve morphology Frequent (79-30%)
HP:0002027 Abdominal pain Frequent (79-30%)
HP:0005200 Retroperitoneal fibrosis Frequent (79-30%)
HP:0000083 Renal insufficiency Occasional (29-5%)
HP:0000505 Visual impairment Occasional (29-5%)
HP:0000508 Ptosis Occasional (29-5%)
HP:0000639 Nystagmus Occasional (29-5%)
HP:0000988 Skin rash Occasional (29-5%)
HP:0001251 Ataxia Occasional (29-5%)
HP:0001260 Dysarthria Occasional (29-5%)
HP:0001317 Abnormal cerebellum morphology Occasional (29-5%)
HP:0001347 Hyperreflexia Occasional (29-5%)
HP:0001635 Congestive heart failure Occasional (29-5%)
HP:0001697 Abnormal pericardium morphology Occasional (29-5%)
HP:0001903 Anemia Occasional (29-5%)
HP:0002017 Nausea and vomiting Occasional (29-5%)
HP:0002094 Dyspnea Occasional (29-5%)
HP:0002202 Pleural effusion Occasional (29-5%)
HP:0002206 Pulmonary fibrosis Occasional (29-5%)
HP:0006530 Interstitial pulmonary abnormality Occasional (29-5%)
HP:0010885 Avascular necrosis Occasional (29-5%)
HP:0010978 Abnormality of immune system physiology Occasional (29-5%)
HP:0012735 Cough Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 59

HPO ID Term # of case reports
HP:0100727 Histiocytosis 39
HP:0000873 Diabetes insipidus 14
HP:0005200 Retroperitoneal fibrosis 11
HP:0002955 Granulomatosis 8
HP:0002653 Bone pain 6
HP:0030731 Carcinoma 4
HP:0002664 Neoplasm 3
HP:0032252 Granuloma 3
HP:0000135 Hypogonadism 2
HP:0000520 Proptosis 2
HP:0000572 Visual loss 2
HP:0000991 Xanthomatosis 2
HP:0001251 Ataxia 2
HP:0001698 Pericardial effusion 2
HP:0002206 Pulmonary fibrosis 2
HP:0002861 Melanoma 2
HP:0025494 Coated aorta 2
HP:0040075 Hypopituitarism 2
HP:0000020 Urinary incontinence 1
HP:0000105 Enlarged kidney 1
HP:0000639 Nystagmus 1
HP:0000819 Diabetes mellitus 1
HP:0000872 Hashimoto thyroiditis 1
HP:0001047 Atopic dermatitis 1
HP:0001050 Plethora 1
HP:0001114 Xanthelasma 1
HP:0001138 Optic neuropathy 1
HP:0001269 Hemiparesis 1
HP:0001369 Arthritis 1
HP:0001541 Ascites 1
HP:0001607 Subglottic stenosis 1
HP:0001824 Weight loss 1
HP:0001873 Thrombocytopenia 1
HP:0001920 Renal artery stenosis 1
HP:0001945 Fever 1
HP:0001954 Recurrent fever 1
HP:0002076 Migraine 1
HP:0002099 Asthma 1
HP:0002196 Myelopathy 1
HP:0002321 Vertigo 1
HP:0002385 Paraparesis 1
HP:0002488 Acute leukemia 1
HP:0002583 Colitis 1
HP:0002621 Atherosclerosis 1
HP:0002647 Aortic dissection 1
HP:0002754 Osteomyelitis 1
HP:0003034 Diaphyseal sclerosis 1
HP:0003124 Hypercholesterolemia 1
HP:0008213 Gonadotropin deficiency 1
HP:0011734 Central adrenal insufficiency 1
HP:0012156 Hemophagocytosis 1
HP:0012378 Fatigue 1
HP:0025143 Chills 1
HP:0030166 Night sweats 1
HP:0030433 Osteoid osteoma 1
HP:0031047 Paraproteinemia 1
HP:0040313 Oligoarthritis 1
HP:0100008 Schwannoma 1
HP:0100242 Sarcoma 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID