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Pelger-Huet anomaly

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.
Uniprot Description An autosomal dominant inherited abnormality of granulocytes, characterized by abnormal ovoid shape, reduced nuclear segmentation and an apparently looser chromatin structure.
Mondo Term and Equivalent IDs
MONDO:0008214:  Pelger-Huet anomaly
EFO:1001093: 
GARD:0009148: 
MESH:D010381: 
NCIT:C85002: 
SCTID:85559002: 
UMLS:C0030779: