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Disease Profile
Aspergillosis
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
All ages
ICD-10
B44.0 B44.1 B44.2 B44.7 B44.8 B44.9
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
Categories
Fungal infections
Summary
Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus.[1] There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy
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 | ||
| Cough |
Coughing
|
0012735 |
| Positive blood 1,3 beta glucan test | 0020153 | |
| 30%-79% of people have these symptoms | ||
| Abnormality on pulmonary function testing | 0030878 | |
| Chest pain | 0100749 | |
| Chronic lung disease | 0006528 | |
| Eosinophilia |
High blood eosinophil count
|
0001880 |
| Fever | 0001945 | |
| Ground-glass opacification on pulmonary HRCT | 0025179 | |
| Hemoptysis |
Coughing up blood
|
0002105 |
|
Decreased immune function
|
0002721 | |
| Neutropenia |
Low blood neutrophil count
Low neutrophil count
[ more ] |
0001875 |
| Parenchymal consolidation | 0032177 | |
| 5%-29% of people have these symptoms | ||
| Abnormal esophagus morphology |
Abnormality of esophagus structure
|
0002031 |
| Abnormality of the kidney |
Abnormal kidney
|
0000077 |
| Asthma | 0002099 | |
| Chronic pulmonary obstruction | 0006510 | |
| Dacryocystitis | 0000620 | |
| Diffuse reticular or finely nodular infiltrations | 0002207 | |
| Dyspnea |
Trouble breathing
|
0002094 |
| Headache |
Headaches
|
0002315 |
| Hematological |
0004377 | |
| Hepatitis |
Liver inflammation
|
0012115 |
| Hypersensitivity pneumonitis | 0006516 | |
| Increased circulating IgE level | 0003212 | |
| Invasive pulmonary aspergillosis | 0020103 | |
| Keratitis |
Corneal inflammation
|
0000491 |
| Localized skin lesion | 0011355 | |
| Nasal obstruction |
Blockage of nose
Nasal blockage
Obstruction of nose
Stuffy nose
[ more ] |
0001742 |
| Ocular pain |
Eye pain
|
0200026 |
| Pleuritis |
Inflammation of tissues lining lungs and chest
|
0002102 |
| Pneumonia | 0002090 | |
| Pulmonary fibrosis | 0002206 | |
| Rhinorrhea |
Runny Nose
|
0031417 |
| Sinusitis |
Sinus inflammation
|
0000246 |
| Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
| 1%-4% of people have these symptoms | ||
| Abnormality of long bone morphology |
Abnormal shape of long bone
|
0011314 |
| Abnormality of the ribs |
Rib abnormalities
|
0000772 |
| Abnormality of the skull base | 0002693 | |
| Abnormality of the vertebral column |
Abnormal spine
Abnormal vertebral column
Abnormality of the spine
[ more ] |
0000925 |
| Bronchiectasis |
Permanent enlargement of the airways of the lungs
|
0002110 |
| Encephalitis |
Brain inflammation
|
0002383 |
| Functional motor deficit | 0004302 | |
| Intracranial hemorrhage |
Bleeding within the skull
|
0002170 |
| 0001287 | ||
| Osteomyelitis |
Bone infection
|
0002754 |
| Periorbital fullness |
Puffiness around eye
|
0000629 |
| Pleural effusion |
Fluid around lungs
|
0002202 |
| 0001250 | ||
| Stroke | 0001297 | |
| Vitritis | 0011531 | |
Treatment
A fungus ball usually does not require treatment unless bleeding into the lung
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- isavuconazonium sulfate(Brand name: Cresemba) Manufactured by Astellas
FDA-approved indication: Treatment of invasive aspergillosis in patients 18 years of age and older.
National Library of Medicine Drug Information Portal
Organizations
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.
Organizations Supporting this Disease
-
Aspergillus & Aspergillosis Website UK
United Kingdom
E-mail: [email protected]
Website: https://www.aspergillus.org.uk/ -
International Pediatric Fungal Network (IPFN)
Box 3499
Duke University Medical Center
Durham, NC 27710
Telephone: +1-999-668-4847
Fax: +1919-668-4859
E-mail: [email protected]
Website: https://www.ipfn.org/
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
- You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States.
- 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.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Aspergillosis. Click on the link to view a sample search on this topic.
References
- Aspergillosis. MedlinePlus. June 9, 2011; https://www.nlm.nih.gov/medlineplus/ency/article/001326.htm. Accessed 10/2/2013.
- Aspergillosis (Aspergillus). Centers for Disease Control and Prevention (CDC). May 6, 2013; https://www.cdc.gov/fungal/diseases/aspergillosis/index.html. Accessed 10/2/2013.
- Aspergillosis. Merck Manuals Online Medical Library. October 2008; https://www.merck.com/mmhe/sec17/ch197/ch197b.html. Accessed 10/2/2013.
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