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Concept information

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

Terme préférentiel

Pelger-Huet Anomaly  

Type

  • mesh:Descriptor

Définition

  • 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. GRANULOCYTE morphologic changes similar to the cells in familial Pelger-Huet anomoly. Granulocytes have abnormal bilobular morphology with hypercondensation due to drug therapy or secondary to diseases such as MYELODYSPLASTIC SYNDROMES and ACUTE MYELOID LEUKEMIA.

Concept générique

Concepts associés

Synonyme(s)

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

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-CJ9KSSDC-4

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RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 08/07/2013