eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| erdheim-chester disease | ||||
| Disease ID | 293 |
|---|---|
| Disease | erdheim-chester disease |
| Definition | A very rare, multisystem non-Langerhans cell histiocytosis that predominantly affects adults. It is characterized by the proliferation in the tissues of lipid-laden macrophages and the presence of multinucleated giant cells. It results in sclerosis of the long bones and failure of the affected organs. Patients may present with bone pain, exophthalmos, ataxia, liver failure, kidney failure, and hypopituitarism. |
| Synonym | chester disease erdheim erdheim chester disease erdheim-chester disease (morphologic abnormality) erdheim-chester disease [disease/finding] erdheim-chester syndrome granulomatosis, lipid lipid granulomatosis lipogranulomatosis polyostotic sclerosing histiocytosis polyostotic sclerosing histiocytosis (disorder) |
| Orphanet | |
| DOID | |
| UMLS | C0878675 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:15) C0031039 | pericardial effusion | 2 C0023449 | acute lymphoblastic leukemia | 1 C0022661 | end-stage renal failure | 1 C0035078 | renal failure | 1 C0151740 | raised intracranial pressure | 1 C0035021 | recurrent fever | 1 C0023448 | lymphoblastic leukemia | 1 C0023418 | leukemia | 1 C0178879 | urinary tract obstruction | 1 C0024299 | lymphoma | 1 C0019621 | langerhans cell histiocytosis | 1 C0011615 | atopic dermatitis | 1 C0007177 | cardiac tamponade | 1 C0031048 | constrictive pericarditis | 1 C0031046 | pericarditis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:13) 27 | ABL2 | 2.158 | DISEASES 367 | AR | 1.601 | DISEASES 369 | ARAF | 3.522 | DISEASES 9332 | CD163 | 4.271 | DISEASES 50489 | CD207 | 3.722 | DISEASES 6624 | FSCN1 | 2.023 | DISEASES 5609 | MAP2K7 | 3.067 | DISEASES 4893 | NRAS | 2.662 | DISEASES 5294 | PIK3CG | 2.181 | DISEASES 10507 | SEMA4D | 2.018 | DISEASES 12 | SERPINA3 | 1.588 | DISEASES 23583 | SMUG1 | 3.159 | DISEASES 6832 | SUPV3L1 | 2.819 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 293 |
|---|---|
| Disease | erdheim-chester disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:41) HP:0000639 | Nystagmus HP:0001317 | Abnormality of the cerebellum HP:0000520 | Proptosis HP:0002094 | Dyspnea HP:0002202 | Pleural effusion HP:0010978 | Abnormality of immune system physiology HP:0012378 | Fatigue HP:0002653 | Bone pain HP:0000873 | Diabetes insipidus HP:0002027 | Abdominal pain HP:0001824 | Weight loss HP:0001697 | Abnormality of the pericardium HP:0005930 | Abnormality of epiphysis morphology HP:0002797 | Osteolysis HP:0000508 | Ptosis HP:0001260 | Dysarthria HP:0000083 | Renal insufficiency HP:0001635 | Congestive heart failure HP:0001251 | Ataxia HP:0000126 | Hydronephrosis HP:0002206 | Pulmonary fibrosis HP:0002017 | Nausea and vomiting HP:0003335 | Low gonadotropins (secondary hypogonadism) HP:0001903 | Anemia HP:0100518 | Dysuria HP:0002754 | Osteomyelitis HP:0000975 | Hyperhidrosis HP:0011001 | Increased bone mineral density HP:0001646 | Abnormality of the aortic valve HP:0001386 | Joint swelling HP:0001114 | Xanthelasma HP:0001945 | Fever HP:0012735 | Cough HP:0001959 | Polydipsia HP:0000988 | Skin rash HP:0005200 | Retroperitoneal fibrosis HP:0000505 | Visual impairment HP:0001347 | Hyperreflexia HP:0006530 | Interstitial pulmonary disease HP:0010885 | Aseptic necrosis HP:0000944 | Abnormality of the metaphyses |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:14) HP:0100561 | Spinal cord lesion | 2 HP:0001698 | Pericardial effusions | 2 HP:0001945 | Fever | 1 HP:0006721 | Acute lymphocytic leukemia | 1 HP:0030516 | Homonymous hemianopia | 1 HP:0001701 | Pericarditis | 1 HP:0005200 | Retroperitoneal fibrosis | 1 HP:0001909 | Leukemia | 1 HP:0003774 | End-stage renal failure | 1 HP:0012377 | Hemianopia | 1 HP:0002563 | Constrictive pericarditis | 1 HP:0002665 | Lymphoma | 1 HP:0002664 | Neoplasia | 1 HP:0000083 | Renal insufficiency | 1 |
| Disease ID | 293 |
|---|---|
| Disease | erdheim-chester disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:13) C2632116 | stenosis C1366535 | diabetes insipidus C0752303 | urological manifestations C0748168 | pulmonary pathology C0748159 | pulmonary involvement C0677866 | brainstem tumor C0521622 | bilateral hydronephrosis C0271623 | secondary hypogonadism C0267788 | retroperitoneal xanthogranuloma C0206062 | interstitial lung disease C0037285 | skin manifestations C0018809 | cardiac tumor C0002382 | alveolar bone loss |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:11) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs113488022 | 25324352 | 5894 | RAF1 | umls:C0878675 | BeFree | Patients with Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD) have a high frequency of BRAF(V600E) mutations and respond to RAF inhibitors. | 0.000542884 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24857137 | 673 | BRAF | umls:C0878675 | BeFree | Anecdotal responses have been reported in a few patients with LCH and Erdheim-Chester Disease to vemurafenib, a BRAF V600E inhibitor. | 0.002985861 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24531980 | 673 | BRAF | umls:C0878675 | BeFree | Erdheim-Chester disease with an 18F-fluorodeoxyglucose-avid breast mass and BRAF V600E mutation. | 0.002985861 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22879539 | 673 | BRAF | umls:C0878675 | BeFree | High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. | 0.002985861 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25324352 | 673 | BRAF | umls:C0878675 | BeFree | These results indicate that cfDNA BRAF(V600E) mutational analysis in plasma and urine provides a convenient and reliable method of detecting mutational status and can serve as a noninvasive biomarker to monitor response to therapy in LCH and ECD. | 0.002985861 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25324352 | 22882 | ZHX2 | umls:C0878675 | BeFree | Patients with Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD) have a high frequency of BRAF(V600E) mutations and respond to RAF inhibitors. | 0.000542884 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24894769 | 673 | BRAF | umls:C0878675 | BeFree | Our findings indicate that the association of LCH and ECD is not fortuitous and suggest a link between these diseases involving the BRAF(V600E) mutation. | 0.002985861 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25735579 | 673 | BRAF | umls:C0878675 | BeFree | Does the BRAF(V600E) mutation herald a new treatment era for Erdheim-Chester disease? A case-based review of a rare and difficult to diagnose disorder. | 0.002985861 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25422482 | 673 | BRAF | umls:C0878675 | BeFree | Reproducible and sustained efficacy of targeted therapy with vemurafenib in patients with BRAF(V600E)-mutated Erdheim-Chester disease. | 0.002985861 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25003820 | 673 | BRAF | umls:C0878675 | BeFree | BRAF V600E mutations in urine and plasma cell-free DNA from patients with Erdheim-Chester disease. | 0.002985861 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs121913530 | 25324352 | 3845 | KRAS | umls:C0878675 | BeFree | There was 100% concordance between tissue and urinary cfDNA genotype in treatment-naïve samples. cfDNA analysis facilitated identification of previously undescribed KRAS(G12S)-mutant ECD and dynamically tracked disease burden in patients treated with a variety of therapies. | 0.000271442 | 2015 | KRAS | 12 | 25245351 | C | T,G,A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:13) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001646 | Abnormality of the aortic valve | MP:0012167 | abnormal epigenetic regulation of gene expression | any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA |
| HP:0005930 | Abnormality of epiphysis morphology | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0000083 | Renal insufficiency | MP:0003335 | exocrine pancreatic insufficiency | inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients |
| HP:0000944 | Abnormality of the metaphyses | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0001386 | Joint swelling | MP:0002936 | joint swelling | enlargement of the joints, usually due to an accumulation of fluid |
| HP:0010885 | Aseptic necrosis | MP:0001654 | hepatic necrosis | morphological changes resulting from pathological death of liver tissue; usually due to irreversible damage |
| HP:0010978 | Abnormality of immune system physiology | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
| HP:0002206 | Pulmonary fibrosis | MP:0009419 | skeletal muscle fibrosis | formation of fibrous tissue within skeletal muscle as a result of repair or a reactive process |
| HP:0006530 | Interstitial pulmonary disease | MP:0002295 | abnormal pulmonary circulation | any anomaly in the circulation of blood through the lungs |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
| HP:0011001 | Increased bone mineral density | MP:0013630 | increased bone trabecular spacing | increase in the amount of space between trabeculae in cancellous bone |
| HP:0001635 | Congestive heart failure | MP:0011925 | abnormal heart echocardiography feature | any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features |
Mapped by homologous gene(Total Items:40) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100518 | Dysuria | MP:0011414 | erythruria | passage of red colored urine |
| HP:0012735 | Cough | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0002754 | Osteomyelitis | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002653 | Bone pain | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005930 | Abnormality of epiphysis morphology | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001646 | Abnormality of the aortic valve | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0000508 | Ptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001114 | Xanthelasma | MP:0011231 | abnormal vitamin E level | any anomaly in the concentration of vitamin E, tocopherol, including a series of eight structurally similar compounds; alpha-tocopherol is the most active form in humans and is a powerful biological antioxidant |
| HP:0002206 | Pulmonary fibrosis | MP:0014233 | bile duct epithelium hyperplasia | |
| HP:0001347 | Hyperreflexia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000873 | Diabetes insipidus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002797 | Osteolysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002094 | Dyspnea | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0002202 | Pleural effusion | MP:0014233 | bile duct epithelium hyperplasia | |
| HP:0000126 | Hydronephrosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001260 | Dysarthria | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0012378 | Fatigue | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0001317 | Abnormality of the cerebellum | MP:0011971 | increased circulating lactate dehydrogenase level | elevated blood level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate; measurements of circulating levels are used clinically as a diagnostic indicator of tissue breakdown, some forms of ca |
| HP:0010885 | Aseptic necrosis | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0000975 | Hyperhidrosis | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0003335 | Low gonadotropins (secondary hypogonadism) | MP:0013603 | abnormal fetal Leydig cell differentiation | atypical formation of or inability to produce the first or fetal population of Leydig cells (FLCs); in mice, FLCs arise in the testicular interstitium between E12.5 and E13.0, approximately 1 day after the appearance of Sertoli cells; Sertoli cells trigge |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000520 | Proptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000083 | Renal insufficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001697 | Abnormality of the pericardium | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0011001 | Increased bone mineral density | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006530 | Interstitial pulmonary disease | MP:0011846 | decreased kidney collecting duct number | smaller than expected number of the kidney ducts that collect urine from the distal convoluted tubules, merge and become larger as they descend from the renal cortex into the medulla, and respond to vasopressin and aldosterone to regulate water, electroly |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0000639 | Nystagmus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001635 | Congestive heart failure | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0010978 | Abnormality of immune system physiology | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001386 | Joint swelling | MP:0013743 | ciliary body hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the thickened portion of the vascular tunic which lies between the choroid and the iris |
| HP:0001959 | Polydipsia | MP:0013572 | abnormal parathyroid gland chief cell morphology | any structural anomaly of an epithelial cell that are collectively arranged in wide, irregular interconnecting columns in the parathyroid gland, that is responsible for the synthesis and secretion of parathyroid hormone (PTH) |
| HP:0000505 | Visual impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000944 | Abnormality of the metaphyses | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000988 | Skin rash | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| Disease ID | 293 |
|---|---|
| Disease | erdheim-chester disease |
| Case | (Waiting for update.) |