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, dia...
Comprehensive, easy-to-understand information about this condition
How we create this content →Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
European rare disease database
Genetic and Rare Diseases Info Center
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
European rare disease database
Genetic and Rare Diseases Info Center
Connect with organizations supporting the Erdheim-Chester disease community
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Erdheim-Chester disease
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 1 company has orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.
AI-curated news mentioning Erdheim-Chester disease
Updated Feb 19, 2026
A recent study highlights multiple opportunistic infections as atypical presentations of Erdheim-Chester disease. This research underscores the need for heightened awareness of this rare condition among healthcare providers.
A recent study explores the outcomes of kidney transplantation in patients with Erdheim-Chester disease, providing insights into the management of this rare condition. The findings may inform future treatment strategies for affected individuals.