MeSH Browser

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: 2024/11/05
Revision Date: 2024/11/05

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Concept UI: M0016097
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.
Terms: Pelger-Huet Anomaly Preferred Term
Term UI T030640
Date01/01/1999
LexicalTag EPO
ThesaurusID; Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy and Skeletal Abnormalities
Term UI T786060
Date02/23/2011
LexicalTag NON
ThesaurusID; Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy, and Skeletal Abnormalities
Term UI T834212
Date12/12/2012
LexicalTag NON
ThesaurusID ORD (2010); Pelger-Huet Nuclear Anomaly
Term UI T786059
Date02/23/2011
LexicalTag EPO
ThesaurusID; Pelger-Huët Anomaly
Term UI T789894
Date04/28/2011
LexicalTag EPO
ThesaurusID NLM (2012); Pelger-Huët Nuclear Anomaly
Term UI T789895
Date04/28/2011
LexicalTag EPO
ThesaurusID NLM (2012)

Pelger-Huet Anomaly MeSH Descriptor Data 2025