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Disease Profile
Pelger-Huet anomaly
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.
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Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
PHA; Pelger Huet anomaly; Pelger-Huet nuclear anomaly;
Categories
Congenital and Genetic Diseases
Summary
Pelger-Huet anomaly (PHA) is an
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 |
0002916 | |
1%-4% of people have these symptoms | ||
Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ] |
0000164 |
Bilateral tonic-clonic |
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 |
0001902 | |
Gingival overgrowth |
Gum enlargement
|
0000212 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
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 |
Central cleft palate
Midline cleft palate
[ more ] |
0009099 |
Mild |
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 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
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 | ||
0000006 | ||
Global |
0001263 | |
Hyposegmentation of neutrophil nuclei | 0011447 | |
More than five fingers or toes on hands or feet
|
0010442 | |
Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ] |
0011220 |
Diagnosis
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),
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
- Vikramjit S Kanwar. Pelger-Huet Anomaly. Medscape. February 13, 2014; https://emedicine.medscape.com/article/957277-overview.
- 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.
- Victor A. McKusick. PELGER-HUET ANOMALY; PHA. In: George E. Tiller. OMIM. 3/5/2014; https://www.omim.org/entry/169400.
- Pelger-Huët anomaly. Genetic Testing Registry; https://www.ncbi.nlm.nih.gov/gtr/conditions/C0030779/. Accessed 4/25/2016.
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