Diseases

Pelger-Huet Anomaly

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

Broader headings

Related Concepts

Knowledge Graph

Loading graph…

Drag nodes to rearrange; hover to trace links; click a node to open its page.

MeSH Record

See Also

MeSH Record

Synonyms

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

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

Indexing Annotation

in titles & translations, use diacritic: Huët

MeSH Hierarchy

Tree Numbers

  1. C15.378w.553.696w
  2. C16w.320w.784w

AMA Style

References

  1. National Library of Medicine. Pelger-Huet Anomaly. Medical Subject Headings (MeSH). 2026. Unique ID D010381. http://id.nlm.nih.gov/mesh/2026/D010381
  2. Pelger-Huet Anomaly. In: Wikipedia. https://en.wikipedia.org/wiki/Pelger%E2%80%93Hu%C3%ABt_anomaly
  3. Pelger-Huet Anomaly. In: Wikidata. https://www.wikidata.org/wiki/Q975182