Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC

Synonyms

HES

ID

http://purl.bioontology.org/ontology/OMIM/607685

altLabel

HES

cui

C0206141

Gene Locus

4q12

Gene Symbol

PDGFRA

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU002865

http://purl.bioontology.org/ontology/OMIM/MTHU002863

http://purl.bioontology.org/ontology/OMIM/MTHU002861

http://purl.bioontology.org/ontology/OMIM/MTHU002870

http://purl.bioontology.org/ontology/OMIM/MTHU002871

http://purl.bioontology.org/ontology/OMIM/MTHU002867

http://purl.bioontology.org/ontology/OMIM/MTHU002859

http://purl.bioontology.org/ontology/OMIM/MTHU002864

http://purl.bioontology.org/ontology/OMIM/MTHU038829

http://purl.bioontology.org/ontology/OMIM/MTHU002862

http://purl.bioontology.org/ontology/OMIM/MTHU037280

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU002772

http://purl.bioontology.org/ontology/OMIM/MTHU002869

http://purl.bioontology.org/ontology/OMIM/MTHU002868

http://purl.bioontology.org/ontology/OMIM/MTHU002857

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

607685

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC

Scope Statement

More common in men (9:1 male:female ratio) [MISCELLANEOUS]

Considered a myeloproliferative disorder [MISCELLANEOUS]

Occurs at age 20-50 years [MISCELLANEOUS]

Usually fatal [MISCELLANEOUS]

Caused by fusion of the FIP1-like 1 gene (FIP1L1, 607686) and the platelet-derived growth factor receptor-alpha gene (PDGFRA, 173490) [MOLECULAR BASIS]

tui

T047

Delete Subject Author Type Created
No notes to display