Primary hypereosinophilic syndrome
Synonyms: Clonal hypereosinophilic syndrome · HES-M · HES-N · Neoplastic hypereosinophilic syndrome · Primary HES
- Type
- Disease
- Group
- Disorder
- Age of onset
- All ages
- Status
- active
A rare hypereosinophilic syndrome characterized by hypereosinophilia produced by clonal eosinophils derived from neoplastic stem cells in the absence of any secondary cause of eosinophilia and persisting for at least six months. The condition is associated with signs of organ infiltration, dysfunction, and damage. Clinical manifestations are highly variable, depending on the organ systems involved, and include dermatologic, pulmonary, cardiac, gastrointestinal, and cerebral manifestations, among others.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary hypereosinophilic syndrome | Clonal hypereosinophilic syndrome · HES-M · HES-N · Neoplastic hypereosinophilic syndrome · Primary HES |
| fr | Syndrome hyperéosinophilique primitif | SHE-M · SHE-N · Syndrome hyperéosinophilique clonal · Syndrome hyperéosinophilique néoplasique |
| de | Hypereosinophiles Syndrom, primäres | HES, primäres · HES-M · HESN · Hypereosinophiles Syndrom, klonales · Hypereosinophiles Syndrom, neoplastisches |
| es | Síndrome hipereosinofílico primario | HES primario · HES-M · HESN · Síndrome hipereosinofílico clonal · Síndrome hipereosinofílico neoplásico |
| it | Sindrome ipereosinofila primitiva | HES primitiva · HES-M · HESN · Sindrome ipereosinofila clonale · Sindrome ipereosinofila neoplastica |
| nl | Primair hypereosinofiel syndroom | HES-M · HESN · Klonaal hypereosinofiel syndroom · Neoplastisch hypereosinofiel syndroom · Primaire HES |
| pt | Síndrome hipereosinofílica primária | Síndrome hipereosinofílica clonal · Síndrome hipereosinofílica neoplásica · HES primária · HES-M · HESN |
| pl | Pierwotny zespół hipereozynofilowy | HES-M · HES-N · Klonalny zespół hipereozynofilowy · Neoplastyczny zespół hipereozynofilowy · Pierwotny HES |
| cs | Primární hypereozinofilní syndrom | Klonální hypereozinofilní syndrom · HES-M · HES-N · Neoplastický hypereozinofilní syndrom · Primární HES |
| uk | Первинний гіпереозинофільний синдром | Клональний гіпереозинофільний синдром · HES-M · HES-N · Неопластичний гіпереозинофільний синдром · Первинна HES |
| zh | 原发性嗜酸性粒细胞增多综合征 | 肿瘤性嗜酸性粒细胞增多综合征 |
| tr | Primer hipereozinofilik sendrom | HES-M · HES-N · Primer HES · Klonal hipereozinofilik sendrom · Neoplastik hipereozinofilik sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D47.5 | NTBT | attributed | validated |
| MONDO | 0017833 | E | validated | |
| UMLS | C5679898 | 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
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ETV6 | Part of a fusion gene in | Assessed | HGNC:3495 | ENSG00000139083 | 600618 | 12p13.2 | ETS variant transcription factor 6 | 22460074[PMID]_24577808[PMID] |
| FGFR1 | Part of a fusion gene in | Assessed | HGNC:3688 | ENSG00000077782 | 136350 | 8p11.23 | fibroblast growth factor receptor 1 | 22460074[PMID]_24577808[PMID] |
| FIP1L1 | Part of a fusion gene in | Assessed | HGNC:19124 | ENSG00000145216 | 607686 | 4q12 | factor interacting with PAPOLA and CPSF1 | 22460074[PMID]_24577808[PMID] |
| PDGFRA | Part of a fusion gene in | Assessed | HGNC:8803 | ENSG00000134853 | 173490 | 4q12 | platelet derived growth factor receptor alpha | 22460074[PMID]_24577808[PMID] |
| PDGFRB | Part of a fusion gene in | Assessed | HGNC:8804 | ENSG00000113721 | 173410 | 5q32 | platelet derived growth factor receptor beta | 22460074[PMID]_24577808[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314950
- This record as JSON: /data/d/314950.json