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Pelger-Huet Anomaly (CUI C0030779) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0030779

NCI Thesaurus Code: C85002  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.

GARD Definition: Pelger-Huët anomaly (PHA) is an inherited blood condition in which the nuclei of several types of white blood cells (neutrophils and eosinophils) have unusual shape (bilobed, peanut or dumbbell-shaped instead of the normal trilobed shape) and unusual structure (coarse and lumpy).  Click here to view a picture of these cells seen under the microscope. PHA is caused by a mutation or alteration in a gene called the lamin B receptor (LBR) gene located on the long arm of chromosome 1 (1q42.1). It is important to distinguish this autosomal dominant disorder from acquired or pseudo-Pelger-Huët anomaly, which may be found in individuals with certain types of leukemia or myelodysplastic syndromes. - this information is from GARD/ORDR/NCATS.

MSH 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.

Synonyms & Abbreviations: (see Synonym Details)
Anomaly, Pelger-Huet Nuclear
Anomaly, Pelger-Huet
Anomaly, Pelger-Huët Nuclear
Anomaly, 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 [Disease/Finding]
Pelger-Huet anomaly
Pelger-Huet nuclear anomaly
Pelger-Huët anomaly (disorder)
Pelger-Huët Anomaly
Pelger-Huët Nuclear Anomaly
PHA

External Source Codes: 
NCI Thesaurus Code C85002 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN in titles & translations, use diacritic: Huët MSH
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CTV3ID X20E3 SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 3635 GARD
DISEASE_IDENTIFIER_ID 3636 GARD
DISEASE_IDENTIFIER_ID 3637 GARD
DISEASE_IDENTIFIER_ID 3638 GARD
DX 19660101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FX D034921 MSH
GENELOCUS ,1,q,4,2,.,1, OMIM
GENESYMBOL LBR OMIM
GENESYMBOL PHA OMIM
HAS_GARD_PAGE true GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 19990101 MSH
MESH_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. NDFRT
MESH_DUI D010381 NDFRT
MESH_NAME Pelger-Huet Anomaly NDFRT
MESH_UI M0016097 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C15.378.553.696 MSH
MN C16.320.784 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000002341 NDFRT
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/9148/pelger-huet-anomaly/resources/1 GARD
RXAUI 3218562 RXNORM
RXAUI 3218563 RXNORM
RXAUI 4223576 RXNORM
RXAUI 4223663 RXNORM
RXAUI 4223664 RXNORM
RXAUI 4223665 RXNORM
RXAUI 5931860 RXNORM
RXCUI 1022965 RXNORM
SNOMED_CID 85559002 NDFRT
SNOMEDID DC-41844 SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS D72.0 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~D72.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS D72.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~D72.0 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X20E3 SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~DC-41844 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T030640 MSH
TERMUI T786059 MSH
TERMUI T786060 MSH
TERMUI T789894 MSH
TERMUI T789895 MSH
TERMUI T834212 MSH
TH NLM (1966) MSH
TH NLM (2012) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TH ORD (2011) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0030779

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