| Descriptor English: | Pelger-Huet Anomaly | ||||
| Descriptor Spanish: |
Anomalía de Pelger-Huët
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| 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 |
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| Tree number(s): |
C15.378.553.696 C16.320.784 |
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| 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. |
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| Annotation: | in titles & translations, use diacritic: Huët |
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| 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 |
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| 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 |
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Pelger-Huet Anomaly
- Preferred
Pseudo Pelger-Huet Anomaly
- Related but not broader or narrower
| 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 |
| 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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