EOSINOPHILIA, FAMILIAL

General Information (adopted from Orphanet):

Synonyms, Signs: EOS
Number of Symptoms 2
OrphanetNr:
OMIM Id: 131400
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001880) Eosinophilia 35 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Familial eosinophilia is a rare autosomal dominant disorder characterized by peripheral hypereosinophilia (greater than 500 eosinophils/micro liter of blood) with or without other oragn involvement (summary by Rioux et al., 1998).
Clinical Description OMIM Sparrevohn (1967) described an 18-month-old girl with recurrent asthmatic bronchitis, recurrent pulmonary infiltrates, leukocytosis, persistent marked eosinophilia with 'shift to the left,' intermittent thrombocytopenia, eosinophilia of liver and bone marrow, cellular infiltration including mast cells and eosinophils in ...
Molecular genetics OMIM - Exclusion Studies

The region to which Rioux et al. (1998) mapped the EOS gene contains a cytokine gene cluster, which includes 3 genes whose products play important roles in the development and proliferation of eosinophils: ...