Erdheim-Chester disease
Findings
No curated finding names Erdheim-Chester disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0018153), read 2026-09-29. CC BY 4.0.
Features
41 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal epiphysis morphologyHPOHP:0005930
- Very frequent (80% to 99% of cases)
- Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- Bone painHPOHP:0002653
- Very frequent (80% to 99% of cases)
- Diabetes insipidusHPOHP:0000873
- Very frequent (80% to 99% of cases)
- DysuriaHPOHP:0100518
- Very frequent (80% to 99% of cases)
- FatigueHPOHP:0012378
- Very frequent (80% to 99% of cases)
- FeverHPOHP:0001945
- Very frequent (80% to 99% of cases)
- HyperhidrosisHPOHP:0000975
- Very frequent (80% to 99% of cases)
- Hypogonadotropic hypogonadismHPOHP:0000044
- Very frequent (80% to 99% of cases)
- Increased bone mineral densityHPOHP:0011001
- Very frequent (80% to 99% of cases)
- OsteolysisHPOHP:0002797
- Very frequent (80% to 99% of cases)
- OsteomyelitisHPOHP:0002754
- Very frequent (80% to 99% of cases)
Show the remaining 29
- PolydipsiaHPOHP:0001959
- Very frequent (80% to 99% of cases)
- ProptosisHPOHP:0000520
- Very frequent (80% to 99% of cases)
- Weight lossHPOHP:0001824
- Very frequent (80% to 99% of cases)
- XanthelasmaHPOHP:0001114
- Very frequent (80% to 99% of cases)
- Abdominal painHPOHP:0002027
- Frequent (30% to 79% of cases)
- Abnormal aortic valve morphologyHPOHP:0001646
- Frequent (30% to 79% of cases)
Where it sits
Other names
3 names
Resolves to: Erdheim-Chester disease
- Also called
- Erdheim Chester Diseaselipogranulomatosispolyostotic sclerosing histiocytosis