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||
|80%-99% of people have these symptoms|
Tiredness[ more ]
Low blood neutrophil count
Low neutrophil count[ more ]
Overriding toes[ more ]
|Recurrent skin infections||
Skin infections, recurrent[ more ]
|30%-79% of people have these symptoms|
|5%-29% of people have these symptoms|
Pain in stomach
Stomach pain[ more ]
|Abnormality of eosinophils||0001879|
Tooth decay[ more ]
|Recurrent aphthous stomatitis||0011107|
|Recurrent respiratory infections||
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections[ more ]
Low platelet count
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the mouth||
Treatment with granulocyte colony-stimulating factor (G-CSF), also called Neupogen, is effective in elevating blood neutrophil counts in cyclic neutropenia. G-CSF treatment ameliorates the symptoms and problems of infections in almost all individuals. In cyclic neutropenia, G-CSF shortens the periods of neutropenia as well as the length of the neutropenic cycle. Treatment is known to be effective at least as early as age six months to one year. Studies indicate that treatment is effective with no adverse effects on growth, development, or pregnancy outcome with follow-up to age 18 years.
For hematopoietic stem cell transplantation (HSCT) may be the preferred treatment option. HSCT is the only alternative therapy for individuals with neutropenia who are refractory to high-dose G-CSF or who undergo malignant
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
Is there a certain spot that the sores start to break out in? See answer
My daughter has cyclic neutropenia. She experiences severe side effects when taking Neupogen injections (granulocyte colony-stimulating factor or G-CSF). Are there any dietary ways to control the symptoms of cyclic neutropenia? See answer