Idiopathic hypereosinophilic syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: HES
Number of Symptoms 7
OrphanetNr: 3260
OMIM Id: 607685
ICD-10: D47.5
UMLs: C0206141
Snomed: 414450004

Prevalence, inheritance and age of onset:

Prevalence: 10
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Hypereosinophilic syndrome
 -Rare cardiac disease
 -Rare hematologic disease
 -Rare oncologic disease


There is an ambiguous usage of the term "idiopathic hypereosinophilic syndrome". Previously it was used for all types of HES. Progress in research (see PMID:19630574 and Orphanet) has led to the concept of HES subtypes that can be distinguished on the basis of clinical and laboratory characteristics. According to these resources idiopathic hypereosinophilic syndrome as well as lymphoid hypereosinophilic syndrome (HES-L) and primary hypereosinophilic syndrome (HES-M) are subtypes of HES. However, this concept is not being used by all authors.

Symptom Information: Sort by abundance 

(HPO:0002113) Pulmonary infiltrates 26064485 IBIS 36 / 7739
(HPO:0006685) Endocardial fibrosis 26064485 IBIS 9 / 7739
(HPO:0000822) Hypertension Occasional [IBIS] 20% 26064485 IBIS 224 / 7739
(HPO:0001880) Eosinophilia Very frequent [IBIS] 26064485 IBIS 35 / 7739
(HPO:0000707) Abnormality of the nervous system 26064485 IBIS 61 / 7739
(HPO:0000077) Abnormality of the kidney Rare [IBIS] 26064485 IBIS 73 / 7739
(HPO:0000093) Proteinuria Occasional [IBIS] 20% 26064485 IBIS 169 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
PDGFRA rs121908587 pathogenic RCV000014509.25

Additional Information:

Diagnosis OMIM The diagnosis of hypereosinophilic syndrome is based on the following criteria (Chusid et al., 1975): sustained eosinophilia (more than 1,500 eosinophils per cubic millimeter) for more than 6 months; the absence of other causes of eosinophilia, including parasitic ...
Clinical Description OMIM The hypereosinophilic syndrome is a rare hematologic disorder with sustained overproduction of eosinophils in the bone marrow, eosinophilia, tissue infiltration, and organ damage (Cools et al., 2003). The syndrome is more common in men than women (ratio of ...
Molecular genetics OMIM Cools et al. (2003) found that a hypereosinophilic syndrome patient being treated with imatinib had a complex chromosomal abnormality; this led to the identification of fusion of the FIP1L1 gene to the PDGFRA gene, which was caused by ...