Pelger-Huët anomaly

GPTKB entity

Statements (23)
Predicate Object
gptkbp:instanceOf genetic disorder
hematologic disorder
gptkbp:affects white blood cells
neutrophils
gptkbp:alsoKnownAs gptkb:PHA
Pelger-Huët syndrome
gptkbp:characterizedBy hyposegmentation of neutrophil nuclei
gptkbp:diagnosedBy peripheral blood smear
gptkbp:differentialDiagnosis pseudo-Pelger-Huët anomaly
gptkbp:firstDescribed 1928
G. Huët
Karel Pelger
https://www.w3.org/2000/01/rdf-schema#label Pelger-Huët anomaly
gptkbp:inheritance autosomal dominant
gptkbp:morphologicalType bilobed neutrophil nuclei
gptkbp:mutationAssociatedWith LAMIN B receptor gene
gptkbp:OMIM 169400
gptkbp:prevalence rare
gptkbp:pseudoFormAssociatedWith gptkb:acute_myeloid_leukemia
myelodysplastic syndromes
gptkbp:significance usually benign
gptkbp:bfsParent gptkb:Peripheral_Blood_Smear
gptkbp:bfsLayer 8