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Disease Profile

Nontuberculous mycobacterial lung disease

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.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

All ages

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ICD-10

A31.0

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)

Non-tuberculous mycobacterial lung disease; Pulmonary non-tuberculous mycobacterial infection

Categories

Bacterial infections; Lung Diseases

Summary

Nontuberculous mycobacterial (NTM) lung disease is an infectious condition caused by certain types of mycobacteria. Some people with NTM lung disease have no signs or symptoms, while others experience a severe cough, hemoptysis (coughing up blood), shortness of breath, fatigue, fever, night sweats and/or weightloss. Mycobacteria are found naturally in soil and water. Most people who are exposed to these bacteria do not become sick. However, people who have a weakened immune system or other health conditions (i.e. chronic obstructive pulmonary disease, bronchiectasis, pneumoconiosis, cystic fibrosis, and previous tuberculosis) have an elevated risk of developing NTM lung disease. The condition is generally treated with a combination of antibiotics which is often continued until certain tests have been negative for 12 months. In some cases, surgery may be recommended if lung tissue is damaged.[1][2][2]

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
Elevated erythrocyte sedimentation rate
High ESR
0003565
30%-79% of people have these symptoms
Asthenia
0025406
Bronchiectasis
Permanent enlargement of the airways of the lungs
0002110
Cough
Coughing
0012735
Pulmonary opacity
0031457
5%-29% of people have these symptoms
Chest pain
0100749
Chronic pulmonary obstruction
0006510
Crackles
0030830
Diarrhea
Watery stool
0002014
Disseminated nontuberculous mycobacterial infection
0032283
Fever
0001945
Hemoptysis
Coughing up blood
0002105
Lymphadenopathy
Swollen lymph nodes
0002716
Mycobacterium abscessus abscessus infection
0032130
Pericardial effusion
Fluid around heart
0001698
Pleural effusion
Fluid around lungs
0002202
Respiratory distress
Breathing difficulties
Difficulty breathing

[ more ]

0002098
Weight loss
0001824
1%-4% of people have these symptoms
Pneumothorax
Collapsed lung
0002107

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

    Organizations Providing General Support

      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

      • 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 Nontuberculous mycobacterial lung disease. Click on the link to view a sample search on this topic.

        References

        1. Learn about Nontuberculous Mycobacteria (NTM). American Lung Association. https://www.lung.org/lung-health-and-diseases/lung-disease-lookup/nontuberculosis-mycobacteria/learn-about-ntm.html. Accessed 11/2/2015.
        2. Johnson MM & Odell JA. Nontuberculous mycobacterial pulmonary infections. J Thorac Dis. March, 2014; 6(3):210–220. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3949190/. Accessed 11/2/2015.
        3. Griffith DE. Diagnosis of nontuberculous mycobacterial infections of the lungs in HIV-negative patients. UpToDate. August 20, 2015; https://www.uptodate.com/contents/diagnosis-of-nontuberculous-mycobacterial-infections-of-the-lungs-in-hiv-negative-patients. Accessed 11/2/2015.