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Disease Profile

Idiopathic neutropenia

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

#N/A

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)

Nonimmune chronic idiopathic neutropenia of adults; NI-CINA

Categories

Blood Diseases

Summary

Idiopathic neutropenia is an acquired form of severe chronic neutropenia whose cause is unknown.[1] Neutropenia is a blood condition that causes a reduced number or complete absence of neutrophils, a type of white blood cell that is responsible for much of the body's protection against infection. Symptoms include fever, moth sores, and other types of infections. Neutropenia idiopathic may occur in children and adults.[2] Frequency and severity of infections appear to be directly related to neutrophil count; while clinical problems in individual patients may vary, in general, those patients with more severe neutropenia have more frequent infections.[3] Most patients respond well to granulocyte-colony stimulating factor (G-CSF).[4] Long-term treatment is usually required.[2][3]

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
5%-29% of people have these symptoms
Acute myeloid leukemia
0004808
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Neutropenia
Low blood neutrophil count
Low neutrophil count

[ more ]

0001875

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.

Where to Start

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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 Idiopathic neutropenia. Click on the link to view a sample search on this topic.

References

  1. Boxer, LA. Severe Combined Neutropenia. National Organization for Rare Disorders (NORD). 2012; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/857/viewAbstract. Accessed 1/13/2014.
  2. Types of neutropenia. National Neutropenia Network. 2014; https://www.neutropenianet.org/what-is-neutropenia/types-of-neutropenia/. Accessed 1/13/2014.
  3. Idiopathic Neutropenia. The Severe Chronic Neutropenia International Registry. https://depts.washington.edu/registry/Info.Idiopathic.Neut.htm. Accessed 1/13/2014.
  4. Treatment. National Neutropenia Network. 2014; https://www.neutropenianet.org/medical-care/treatment/. Accessed 1/13/2014.