Erdheim-Chester disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Erdheim-Chester disease | |
| fr | Maladie d'Erdheim-Chester | |
| de | Erdheim-Chester-Krankheit | |
| es | Enfermedad de Erdheim-Chester | |
| it | Malattia di Erdheim-Chester | |
| nl | Ziekte van Erdheim-Chester | |
| pt | Doença de Erdheim-Chester | |
| pl | Choroba Erdheima i Chestera | |
| cs | Erdheimova-Chesterova nemoc | Erdheim-Chesterova nemoc |
| uk | Хвороба Ердгейма-Честера | |
| zh | Erdheim-Chester病 | |
| tr | Erdheim-Chester hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D76.3 | NTBT | attributed | validated |
| ICD-11 | 2B31.Y | NTBT | index | validated |
| ICD-11 | XH1VJ3 | E | specific | validated |
| MONDO | 0018153 | E | validated | |
| MeSH | D031249 | E | validated | |
| UMLS | C0878675 | E | validated | |
| GARD | 6369 | E | validated | |
| MedDRA | 10060801 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:324930Granulomatous autoinflammatory syndrome
rare systemic and rheumatological diseases - ORPHA:157987Non-Langerhans cell histiocytosis
rare skin diseases; rare systemic and rheumatological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 500 cases | Worldwide | Case(s) | Validated | 20724540[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
41 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0002653 | Bone pain | |
| HP:0000873 | Diabetes insipidus | |
| HP:0100518 | Dysuria | |
| HP:0012378 | Fatigue | |
| HP:0001945 | Fever | |
| HP:0000975 | Hyperhidrosis | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0011001 | Increased bone mineral density | |
| HP:0002797 | Osteolysis | |
| HP:0002754 | Osteomyelitis | |
| HP:0001959 | Polydipsia | |
| HP:0000520 | Proptosis | |
| HP:0001824 | Weight loss | |
| HP:0001114 | Xanthelasma | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0001646 | Abnormal aortic valve morphology | |
| HP:0000126 | Hydronephrosis | |
| HP:0001386 | Joint swelling | |
| HP:0005200 | Retroperitoneal fibrosis | |
| Occasional (29-5%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0001697 | Abnormal pericardium morphology | |
| HP:0006530 | Abnormal pulmonary interstitial morphology | |
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0001903 | Anemia | |
| HP:0001251 | Ataxia | |
| HP:0010885 | Avascular necrosis | |
| HP:0001635 | Congestive heart failure | |
| HP:0012735 | Cough | |
| HP:0001260 | Dysarthria | |
| HP:0002094 | Dyspnea | |
| HP:0001347 | Hyperreflexia | |
| HP:0002017 | Nausea and vomiting | |
| HP:0000639 | Nystagmus | |
| HP:0002202 | Pleural effusion | |
| HP:0000508 | Ptosis | |
| HP:0002206 | Pulmonary fibrosis | |
| HP:0000083 | Renal insufficiency | |
| HP:0000988 | Skin rash | |
| HP:0000505 | Visual impairment | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/35687
- This record as JSON: /data/d/35687.json