Pelger-Huet anomaly
Findings
No curated finding names Pelger-Huet anomaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0008214), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
31 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of neutrophilsHPOHP:0001874
- Obligate (100% of cases)
- Abnormality of the dentitionHPOHP:0000164
- 1 of 1 reported patient
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Foot dorsiflexor weaknessHPOHP:0009027
- 1 of 1 reported patient
- Frontal bossingHPOHP:0002007
Show the remaining 19
- Pes cavusHPOHP:0001761
- 1 of 1 reported patient
- Recurrent otitis mediaHPOHP:0000403
- 1 of 1 reported patient
- StrabismusHPOHP:0000486
- 1 of 1 reported patient
- Umbilical herniaHPOHP:0001537
- 1 of 1 reported patient
- Abnormality of chromosome segregationHPOHP:0002916
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- 4 of 12 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LBRHGNC:6518
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2018