Primary hypereosinophilic syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: HES-M
HES-N
Neoplastic hypereosinophilic syndrome
Clonal hypereosinophilic syndrome
Primary HES
Number of Symptoms 11
OrphanetNr: 314950
OMIM Id:
ICD-10: D47.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

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

Comment:

A form of leukemia in which the eosinophil is the predominating cell.

Symptom Information: Sort by abundance 

1
 (HPO:0004341) Abnormality of vitamin B12 metabolism 19630574 IBIS 1 / 7739
2
 (HPO:0001744) Splenomegaly 19630574 IBIS 337 / 7739
3
 (HPO:0006685) Endocardial fibrosis 19630574 IBIS 9 / 7739
4
 (HPO:0001873) Thrombocytopenia 19630574 IBIS 224 / 7739
5
 (HPO:0001909) Leukemia 19630574 IBIS 46 / 7739
6
 (HPO:0100495) Mastocytosis 19630574 IBIS 14 / 7739
7
 (HPO:0100494) Abnormality of mast cells 19630574 IBIS 1 / 7739
8
 (HPO:0001880) Eosinophilia Very frequent [IBIS] 19630574 IBIS 35 / 7739
9
 (HPO:0001903) Anemia 19630574 IBIS 289 / 7739
10
 (HPO:0005528) Bone marrow hypocellularity 19630574 IBIS 31 / 7739
11
 (HPO:0011021) Abnormality of circulating enzyme level 19630574 IBIS 1 / 7739

Associated genes:

FIP1L1/PDGFRA

ClinVar (via SNiPA)

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

Additional Information: