Pelger-Huet Anomaly (definition)

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ψ ψ	Pelger-Huet Anomaly

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Definition: Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

in titles & translations, use diacritic: Hu+½t
See Also Lamin Type B

Other names Pseudo Pelger Hu+½t Anomaly; Pseudo Pelger Huet Nuclear Anomaly; Pseudo Pelger Huet Anomaly; Pelger-Hu+½t Anomaly, Pseudo; Pelger-Huet Anomaly, Pseudo; Pelger Hu+½t Nuclear Anomaly; Pelger Hu+½t Anomaly; Pelger Huet Nuclear Anomaly; Pelger Huet Anomaly; Nuclear Anomaly, Pelger-Hu+½t; Nuclear Anomaly, Pelger-Huet; Anomaly, Pseudo Pelger-Hu+½t; Anomaly, Pseudo Pelger-Huet; Anomaly, Pelger-Hu+½t Nuclear; Anomaly, Pelger-Hu+½t; Anomaly, Pelger-Huet Nuclear; Anomaly, Pelger-Huet; Pseudo Pelger-Hu+½t Anomaly; Pseudo Pelger-Huet Nuclear Anomaly; Pseudo Pelger-Huet Anomaly

Substance	CAS Registry & name	Categories	Source
Ovoid neutrophil nuclei, developmental delay, epilepsy, and skeletal abnormalities	0	*Pelger-Huet Anomaly.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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