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Descriptor English: Pelger-Huet Anomaly
Descriptor Spanish: Anomalía de Pelger-Huët
Descriptor anomalía de Pelger-Huet
Scope note: Anomalía autosómica dominante caracterizada por la forma ovoide anormal del núcleo del GRANULOCITO y condensación de su cromatina. Este trastorno se asocia a mutaciones del receptor de LAMINA B lo que da lugar a la disminución de la concentración de proteína asociada a este trastorno. Los individuos heterocigotos son sanos y tienen una función normal de los granulocitos en tanto que los homocigotos presentan ocasionalmente anomalías esqueléticas, retraso del desarrollo y convulsiones.
Descriptor Portuguese: Anomalia de Pelger-Huët
Descriptor French: Anomalie de Pelger-Huët
Entry term(s): Syndrome de Pelger-Huët
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 sang
CF liquide cérébrospinal
CI induit chimiquement
CL classification
CO complications
DG imagerie diagnostique
DH diétothérapie
DI diagnostic
DT traitement médicamenteux
EC économie
EH ethnologie
EM embryologie
EN enzymologie
EP épidémiologie
ET étiologie
GE génétique
HI histoire
IM immunologie
ME métabolisme
MI microbiologie
MO mortalité
NU soins infirmiers
PA anatomopathologie
PC prévention et contrôle
PP physiopathologie
PS parasitologie
PX psychologie
RH rééducation et réadaptation
RT radiothérapie
SU chirurgie
TH thérapie
UR urine
VE médecine vétérinaire
VI virologie
Related: Lamine 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
Anomalie de Pelger-Huët - Preferred
Concept UI M0016097
Preferred term Anomalie de Pelger-Huët
Entry term(s) Syndrome de Pelger-Huët



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