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Disease Pelger-Huet Anomaly

Name Pelger-Huet Anomaly
Synonyms Anomaly, Pelger-Huet | Anomaly, Pelger-Huët | Anomaly, Pelger-Huet Nuclear | Anomaly, Pelger-Huët Nuclear | Anomaly, Pseudo Pelger-Huet | Anomaly, Pseudo Pelger-Huët | 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 Huet Anomaly | Pelger Huët Anomaly | Pelger-Huët Anomaly | Pelger-Huet Anomaly, Pseudo | Pelger-Huët Anomaly, Pseudo | Pelger Huet Nuclear Anomaly | Pelger-Huet Nuclear Anomaly | Pelger Huët Nuclear Anomaly | Pelger-Huët Nuclear Anomaly | PHA | Pseudo Pelger Huet Anomaly | Pseudo Pelger-Huet Anomaly | Pseudo Pelger Huët Anomaly | Pseudo Pelger-Huët Anomaly | Pseudo Pelger Huet Nuclear Anomaly | Pseudo Pelger-Huet Nuclear Anomaly
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.
Categories Blood disease | Genetic disease (inborn)
MeSH® ID D010381
OMIM® ID 169400
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Top ↑ Ancestors

1. DiseasesHemic and Lymphatic Diseases Has associated chemicals Has associated genes Has associated exposure references Hematologic Diseases Has associated chemicals Has associated genes Has associated exposure references Leukocyte Disorders Has associated chemicals Has associated genes Pelger-Huet Anomaly Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Pelger-Huet Anomaly Has associated chemicals Has associated genes

Top ↑ Descendants

None.