Erdheim-Chester Disease
ICD-10: C96.1MeSH: D031249ORPHA: 35687
Overview
Erdheim-Chester disease is an extremely rare non-Langerhans cell histiocytosis characterized by excessive production and accumulation of histiocytes in multiple organs. Patients present with bone pain, diabetes insipidus, exophthalmos, and cardiovascular or pulmonary involvement. Approximately 60% of cases harbor BRAF V600E mutations. Global prevalence is estimated at fewer than 1 in 1,000,000 individuals.
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Erdheim-Chester Disease, sourced from HPO and Orphanet clinical annotations.
Hypogonadotropic hypogonadismProptosisDiabetes insipidusAbnormal metaphysis morphologyHyperhidrosisXanthelasmaWeight lossFeverPolydipsiaBone painOsteomyelitisOsteolysisAbnormal epiphysis morphologyIncreased bone mineral densityFatigueDysuriaHydronephrosisJoint swellingAbnormal aortic valve morphologyAbdominal painRetroperitoneal fibrosisRenal insufficiencyVisual impairmentPtosisNystagmusSkin rashAtaxiaDysarthriaAbnormal cerebellum morphologyHyperreflexiaCongestive heart failureAbnormal pericardium morphologyAnemiaNausea and vomitingDyspneaPleural effusionPulmonary fibrosisAbnormal pulmonary interstitial morphologyAvascular necrosisAbnormality of immune system physiologyCough
Classification & Codes
ICD-10 Code
C96.1MeSH Code
D031249Orphanet Code
ORPHA:35687Erdheim-Chester Disease
| ICD-10 | C96.1 |
| MeSH | D031249 |
| Orphanet | ORPHA:35687 |
| Treatments | 0 drug(s) |
| Symptoms on record | 41 signs |
| Status | published |
Factual Authority
Last Updated3/21/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO