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Hemic and Lymphatic Diseases > Hematologic Diseases > Leukocyte Disorders > Pelger-Huet Anomaly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Pelger-Huet Anomaly

Preferred term

Pelger-Huet Anomaly  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Anomaly, Pelger-Huët
  • Anomaly, Pelger-Huet Nuclear
  • Anomaly, Pelger-Huët Nuclear
  • Nuclear Anomaly, Pelger-Huet
  • Nuclear Anomaly, Pelger-Huët
  • Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy and Skeletal Abnormalities
  • Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy, and Skeletal Abnormalities
  • Pelger Huët Anomaly
  • Pelger-Huët Anomaly
  • Pelger Huet Nuclear Anomaly
  • Pelger-Huet Nuclear Anomaly
  • Pelger Huët Nuclear Anomaly
  • Pelger-Huët Nuclear Anomaly

Note

  • in titles & translations, use diacritic: Huët

Scope note

  • 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.

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URI

http://www.yso.fi/onto/mesh/D010381

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