Rare Infectious Disease News

Disease Profile

Pelger-Huet anomaly

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

PHA; Pelger Huet anomaly; Pelger-Huet nuclear anomaly;

Categories

Congenital and Genetic Diseases

Summary

Pelger-Huet 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 considered to be a benign disorder in most instances, as individuals with PHA are typically healthy.[1] PHA is caused by mutations in the LBR gene. It is suspected that mutations within the LBR gene are responsible for a spectrum of disorders including isolated PHA; PHA with mild skeletal symptoms; and Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia (HEM). PHA was previously thought to be inherited in an autosomal dominant manner; however, co-dominant inheritance has been suggested as well.[2] It is important to distinguish PHA from acquired or pseudo-Pelger-Huet anomaly, which may be found in individuals with certain types of leukemia or myelodysplastic syndromes. Diagnosis is made based on characteristic appearance of white blood cell nuclei identified by a blood smear. Most individuals with PHA do not require treatment as they do not have symptoms.[1]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of chromosome segregation
0002916
1%-4% of people have these symptoms
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality

[ more ]

0000164
Bilateral tonic-clonic seizure
Grand mal seizures
0002069
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root

[ more ]

0005280
Eczema
0000964
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Foot dorsiflexor weakness
Foot drop
0009027
Frontal bossing
0002007
Giant platelets
0001902
Gingival overgrowth
Gum enlargement
0000212
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Kyphosis
Hunched back
Round back

[ more ]

0002808
Lower limb hyperreflexia
Overactive lower leg reflex
0002395
Lower limb hypertonia
0006895
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Median cleft palate
Central cleft palate
Midline cleft palate

[ more ]

0009099
Mild short stature
0003502
Neutropenia
Low blood neutrophil count
Low neutrophil count

[ more ]

0001875
Pes cavus
High-arched foot
0001761
Recurrent otitis media
Recurrent middle ear infection
0000403
Short 3rd metacarpal
Shortened 3rd long bone of hand
0010041
Short 4th metacarpal
Shortened 4th long bone of hand
0010044
Short 5th metacarpal
Shortened 5th long bone of hand
0010047
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Thrombocytopenia
Low platelet count
0001873
Umbilical hernia
0001537
Upper limb undergrowth
Short arms
Shortening of the arms

[ more ]

0009824
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Global developmental delay
0001263
Hyposegmentation of neutrophil nuclei
0011447
Polydactyly
More than five fingers or toes on hands or feet
0010442
Prominent forehead
Pronounced forehead
Protruding forehead

[ more ]

0011220

Diagnosis

Pelger-Huet anomaly (PHA) is typically diagnosed by completing a type of blood test called a blood smear to examine the appearance of the nuclei of several types of white blood cells, including neutrophils. Normally the nuclei of these cells have a trilobed shape. In PHA, they are bilobed, peanut, or dumb-bell shaped. They might additionally appear to not have any lobes. The structure is additionally abnormal and appear to be coarse or lumpy. To view a picture of how these cells appear under microscope, click here

When PHA is suspected, it is important to rule out other acquired causes of PHA (known as pseudo-PHA) such as medications (valproic acid, ibuprofen, docetaxel), chemical ingestion/use (benzene), hematologic disorders (leukemia, Fanconi anemia), and non-hematologic disorders (malaria, flu, lupus).[1][2]

Genetic testing to detect mutations in the LBR gene is available for Pelger-Huet anomaly (PHA), though genetic testing may not be necessary to confirm a diagnosis of PHA. For more on the genetic testing options for PHA, click here to view information available through Genetic Testing Registry.[3][4]

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pelger-Huet anomaly. Click on the link to view a sample search on this topic.

References

  1. Vikramjit S Kanwar. Pelger-Huet Anomaly. Medscape. February 13, 2014; https://emedicine.medscape.com/article/957277-overview.
  2. Lior Borovik, Peggy Modaff,Hans R. Waterham, Anthony D. Krentz,Richard M. Pauli. Pelger-Huet Anomaly and a Mild Skeletal Phenotype Secondary to Mutations in LBR. American Journal of Medical Genetics. August 2013; 161A(8):2066-2073. https://www.ncbi.nlm.nih.gov/pubmed/23824842.
  3. Victor A. McKusick. PELGER-HUET ANOMALY; PHA. In: George E. Tiller. OMIM. 3/5/2014; https://www.omim.org/entry/169400.
  4. Pelger-Huët anomaly. Genetic Testing Registry; https://www.ncbi.nlm.nih.gov/gtr/conditions/C0030779/. Accessed 4/25/2016.

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