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Pelger-Huet Anomaly MeSH Descriptor Data 2022


MeSH Heading
Pelger-Huet Anomaly
Tree Number(s)
C15.378.553.696
C16.320.784
Unique ID
D010381
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D010381
Annotation
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.
Entry Term(s)
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
Pseudo Pelger-Huet Anomaly
Pseudo Pelger-Huet Nuclear Anomaly
Pseudo Pelger-Huët Anomaly
See Also
Lamin Type B
Date Established
1966/01/01
Date of Entry
1999/01/01
Revision Date
2013/07/08
Pelger-Huet Anomaly Preferred
Pseudo Pelger-Huet Anomaly Related
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