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Items: 8

1.

Pelger-Huët anomaly

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. [from NCI]

MedGen UID:
10617
Concept ID:
C0030779
Disease or Syndrome
2.

Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome

Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained an autosomal recessive short stature syndrome involving postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see 169400), and normal intelligence. [from OMIM]

MedGen UID:
762020
Concept ID:
C3541319
Disease or Syndrome
3.

Specific granule deficiency 1

Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene. [from MONDO]

MedGen UID:
1644049
Concept ID:
C4551556
Disease or Syndrome
4.

Regressive spondylometaphyseal dysplasia

Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly (SKPHA) is an autosomal recessive disorder characterized by rhizomelic skeletal dysplasia of variable severity with or without abnormal nuclear shape and chromatin organization in blood granulocytes (Hoffmann et al., 2002; Borovik et al., 2013; Collins et al., 2020). Initial skeletal features may improve with age (Sobreira et al., 2014). [from OMIM]

MedGen UID:
1648288
Concept ID:
C4747922
Disease or Syndrome
5.

Pelger-Huet-like anomaly and episodic fever with abdominal pain

Immunodeficiency-108 with autoinflammation (IMD108) is an autosomal recessive disorder characterized mainly by features of autoinflammation, often manifest as onset of recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers around adolescence. Affected individuals also have recurrent infections, particularly of the skin and nails; poor wound healing; and mild bleeding tendencies. Peripheral blood examination shows hypolobulated neutrophils, suggesting a defect in myeloid differentiation and function. However, neutrophil primary and secondary granules are normal (summary by Goos et al., 2019). [from OMIM]

MedGen UID:
376692
Concept ID:
C1850054
Disease or Syndrome
6.

Myelolymphatic insufficiency

MedGen UID:
333371
Concept ID:
C1839650
Disease or Syndrome
7.

Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly

Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly (NEDFLPH) is an autosomal recessive disorder characterized by global developmental delay with severely impaired intellectual development. Affected individuals often have behavioral abnormalities and may have variable findings on brain imaging, such as thin corpus callosum. Laboratory studies show nuclear lobulation defects in a subset of neutrophils, indicating a pseudo-Pelger-Huet anomaly (see 169400) and suggesting defects in the integrity of the nuclear envelope, where TMEM147 localizes (Thomas et al., 2022). [from OMIM]

MedGen UID:
1824005
Concept ID:
C5774232
Disease or Syndrome
8.

Hyposegmentation of neutrophil nuclei

Hyposegmented (hypolobulated) or bilobed neutrophil nuclei. [from HPO]

MedGen UID:
892291
Concept ID:
C4023351
Cell or Molecular Dysfunction

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