Idiopathic hypereosinophilic syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare hematologic disease characterized by eosinophilia without evidence of clonality persisting for at least six months, for which no underlying cause can be identified. The condition is associated with signs of organ damage and dysfunction. Clinical manifestations are highly variable, depending on the organ systems involved, and include rapidly developing, life-threatening cardiovascular or neurological complications.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Idiopathic hypereosinophilic syndrome | |
| fr | Syndrome hyperéosinophilique idiopathique | |
| de | Hypereosinophiles Syndrom, idiopathisches | |
| es | Síndrome hipereosinofílico idiopático | |
| it | Sindrome ipereosinofila idiopatica | |
| nl | Idiopathisch hypereosinofiel syndroom | |
| pt | Síndrome hipereosinofílico idiopático | |
| pl | Zespół hipereozynofilowy o nieznanym znaczeniu | |
| cs | Idiopatický hypereozinofilní syndrom | |
| uk | Ідіопатичний гіпереозинофільний синдром | |
| zh | 特发性嗜酸细胞增多综合征 | |
| tr | İdiyopatik hipereozinofilik sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607685 | E | validated | |
| ICD-10 | D47.5 | NTBT | attributed | validated |
| ICD-11 | 4B03.Z | NTBT | index | validated |
| MONDO | 0011895 | E | validated | |
| UMLS | C0206141 | 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 (1):
- ORPHA:168956Hypereosinophilic syndrome
rare cardiac diseases; rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only | Validated | ORPHANET_22740191[PMID] |
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
78 annotations · validated 2019-04-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001880 | Increased total eosinophil count | |
| Frequent (79-30%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0001903 | Anemia | |
| HP:0001945 | Fever | |
| HP:0100724 | Hypercoagulability | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0002863 | Myelodysplasia | |
| HP:0031323 | Myocardial eosinophilic infiltration | |
| HP:0000980 | Pallor | |
| HP:0002098 | Respiratory distress | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0100665 | Angioedema | |
| HP:0001785 | Ankle swelling | |
| HP:0002829 | Arthralgia | |
| HP:0001369 | Arthritis | |
| HP:0002099 | Asthma | |
| HP:0000708 | Atypical behavior | |
| HP:0000622 | Blurred vision | |
| HP:0025289 | Cervical lymphadenopathy | |
| HP:0100749 | Chest pain | |
| HP:0030151 | Cholangitis | |
| HP:0002028 | Chronic diarrhea | |
| HP:0200123 | Chronic hepatitis | |
| HP:0001217 | Clubbing | |
| HP:0002583 | Colitis | |
| HP:0001289 | Confusion | |
| HP:0001635 | Congestive heart failure | |
| HP:0012735 | Cough | |
| HP:0000965 | Cutis marmorata | |
| HP:0000726 | Dementia | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0002015 | Dysphagia | |
| HP:0002094 | Dyspnea | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001298 | Encephalopathy | |
| HP:0001019 | Erythroderma | |
| HP:0001508 | Failure to thrive | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0004302 | Functional motor deficit | |
| HP:0008940 | Generalized lymphadenopathy | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0001347 | Hyperreflexia | |
| HP:0011123 | Inflammatory abnormality of the skin | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0001386 | Joint swelling | |
| HP:0002024 | Malabsorption | |
| HP:0002354 | Memory impairment | |
| HP:0001324 | Muscle weakness | |
| HP:0003326 | Myalgia | |
| HP:0011974 | Myelofibrosis | |
| HP:0005547 | Myeloproliferative disorder | |
| HP:0011897 | Neutrophilia | |
| HP:0001733 | Pancreatitis | |
| HP:0200034 | Papule | |
| HP:0003401 | Paresthesia | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0002202 | Pleural effusion | |
| HP:0006580 | Portal fibrosis | |
| HP:0000989 | Pruritus | |
| HP:0002204 | Pulmonary embolism | |
| HP:0002206 | Pulmonary fibrosis | |
| HP:0002113 | Pulmonary infiltrates | |
| HP:0030880 | Raynaud phenomenon | |
| HP:0001250 | Seizure | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0200036 | Skin nodule | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0001744 | Splenomegaly | |
| HP:0005115 | Supraventricular arrhythmia | |
| HP:0006253 | Swelling of proximal interphalangeal joints | |
| HP:0001873 | Thrombocytopenia | |
| HP:0001894 | Thrombocytosis | |
| HP:0001727 | Thromboembolic stroke | |
| HP:0002326 | Transient ischemic attack | |
| HP:0001025 | Urticaria | |
| HP:0200029 | Vasculitis in the skin | |
| HP:0002013 | Vomiting | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 26475367[PMID]_15772698[PMID]_22740191[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3260
- This record as JSON: /data/d/3260.json