Features include always present findings: Bilateral tonic-clonic seizure, Abnormality of the dentition, Strabismus, and Failure to thrive and others; and very common findings: Abnormality of chromosome segregation. 35 total HPO annotations.

LBR encodes lamin B receptor (615 aa). Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis. Highest expression in Colon Sigmoid (89.3 TPM) and Cells EBV-transformed lymphocytes (88.9 TPM).

Pelger-Huet anomaly is associated with mutations in the LBR gene on chromosome 1.

The LBR protein participates in 4,4-dimethylcholesta-8(9),14,24-trien-3beta-ol is reduced to 4,4-dimethylcholesta-8(9),24-dien-3beta-ol [LBR], 4,4-dimethylcholesta-8(9),14,24-trien-3beta-ol is reduced to 4,4-dimethylcholesta-8(9),24-dien-3beta-ol [TM7SF2], and RHOC activates endoplasmic reticulum effectors pathways.

LBR is classified as a druggable target with score 0.0.

Genetic testing for LBR is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Pelger-Huet anomaly has been reported in the published literature.

Phenotype severity distribution: 16 always present features, 1 very common feature, 1 common feature.

No clinical trials have been registered for Pelger-Huet anomaly.

17 publications have been identified in PubMed for Pelger-Huet anomaly. Research spans Case Report / Case Series (59%), Basic Science / Preclinical (18%), and Epidemiology / Natural History (12%).