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Descriptor English: Pelger-Huet Anomaly
Descriptor Spanish: Anomalía de Pelger-Huët
Descriptor Portuguese: Anomalia de Pelger-Huët
Descriptor French: Anomalie de Pelger-Huët
Entry term(s): Anomaly, Pelger-Huet
Anomaly, Pelger-Huet Nuclear
Anomaly, Pelger-Huët
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 Huet Nuclear Anomaly
Pelger Huët Anomaly
Pelger Huët Nuclear Anomaly
Pelger-Huet Anomaly, Pseudo
Pelger-Huet Nuclear Anomaly
Pelger-Huët Anomaly
Pelger-Huët Anomaly, Pseudo
Pelger-Huët Nuclear Anomaly
Pseudo Pelger Huet Anomaly
Pseudo Pelger Huet Nuclear Anomaly
Pseudo Pelger Huët Anomaly
Pseudo Pelger-Huet Anomaly
Pseudo Pelger-Huet Nuclear Anomaly
Pseudo Pelger-Huët Anomaly
Tree number(s): C15.378.553.696
C16.320.784
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D010381
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.
Annotation: in titles & translations, use diacritic: Huët
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Related: Lamin Type B MeSH
DeCS ID: 10574
Unique ID: D010381
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1966/01/01
Date of Entry: 1999/01/01
Revision Date: 2013/07/08
Pelger-Huet Anomaly - Preferred
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.
Preferred term Pelger-Huet Anomaly
Entry term(s) Anomaly, Pelger-Huet
Anomaly, Pelger-Huet Nuclear
Anomaly, Pelger-Huët
Anomaly, Pelger-Huët Nuclear
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 Huet Nuclear Anomaly
Pelger Huët Anomaly
Pelger Huët Nuclear Anomaly
Pelger-Huet Nuclear Anomaly
Pelger-Huët Anomaly
Pelger-Huët Nuclear Anomaly
Pseudo Pelger-Huet Anomaly - Related but not broader or narrower
Concept UI M0554984
Scope note 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.
Preferred term Pseudo Pelger-Huet Anomaly
Entry term(s) 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
Pseudo Pelger-Huet Nuclear Anomaly
Pseudo Pelger-Huët Anomaly



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