◎ Sugi Atlas

Atlas / Disease / Pulmonary non-tuberculous mycobacterial infection

Pulmonary non-tuberculous mycobacterial infection

disease
On this page

Also known as non-tuberculous mycobacterial lung diseaseNontuberculous Mycobacterial Lung Disease

Summary

Pulmonary non-tuberculous mycobacterial infection (MONDO:0018469) is a disease with 12 GWAS associations across 2 studies and 15 clinical trials. Top therapeutic interventions include azithromycin, ethambutol, and omadacycline. A subtype of lung disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

  • Prevalence: 1-9 / 100 000 (Europe) [Orphanet-validated]
  • GWAS associations: 12
  • Phenotypes (HPO): 21
  • Clinical trials: 15

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

TypeClassValueGeographyValidation
Point prevalence1-9 / 100 0006EuropeValidated

Signs & symptoms

Clinical features (HPO)

21 HPO clinical features (Orphanet curated; top 21 by frequency):

HPO IDTermFrequency
HP:0003565Elevated erythrocyte sedimentation rateVery frequent (80-99%)
HP:0002110BronchiectasisFrequent (30-79%)
HP:0012735CoughFrequent (30-79%)
HP:0025406AstheniaFrequent (30-79%)
HP:0031457Pulmonary opacityFrequent (30-79%)
HP:0032016Abnormal sputumFrequent (30-79%)
HP:0001698Pericardial effusionOccasional (5-29%)
HP:0001824Weight lossOccasional (5-29%)
HP:0001945FeverOccasional (5-29%)
HP:0002014DiarrheaOccasional (5-29%)
HP:0002094DyspneaOccasional (5-29%)
HP:0002098Respiratory distressOccasional (5-29%)
HP:0002105HemoptysisOccasional (5-29%)
HP:0002202Pleural effusionOccasional (5-29%)
HP:0002716LymphadenopathyOccasional (5-29%)
HP:0006510Chronic pulmonary obstructionOccasional (5-29%)
HP:0030830CracklesOccasional (5-29%)
HP:0032130Mycobacterium abscessus abscessus infectionOccasional (5-29%)
HP:0032283Disseminated nontuberculous mycobacterial infectionOccasional (5-29%)
HP:0100749Chest painOccasional (5-29%)
HP:0002107PneumothoraxVery rare (<1-4%)

Identifiers

Disease identifiers

FieldValue
Canonical namepulmonary non-tuberculous mycobacterial infection
Mondo IDMONDO:0018469
Orphanet411703
ICD-111798822437
UMLSC3472679
MedGen758704
GARD0012829
NORD1887
Is cancer (heuristic)no

Also known as: non-tuberculous mycobacterial lung disease · Nontuberculous Mycobacterial Lung Disease · nontuberculous mycobacterial lung disease

Data availability: 12 GWAS associations (2 studies).

Disease family

This is a subtype of lung disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › respiratory system disorder › lower respiratory tract disorder › lung disorder › pulmonary non-tuberculous mycobacterial infection

Related subtypes (32): aspiration pneumonia, lung abscess, pneumonic plague, pulmonary alveolar proteinosis, pulmonary systemic sclerosis, obstructive lung disease, bronchiolitis, pulmonary immaturity, rheumatoid arthritis-associated interstitial lung disease, pulmonary embolism and infarction, acute chest syndrome, fungal lung infectious disease, middle lobe syndrome, pulmonary coin lesion, pulmonary plasma cell granuloma, silo filler disease, pulmonary alveolar microlithiasis, pulmonary venoocclusive disease, acute lung injury, interstitial lung disease, hantavirus pulmonary syndrome, respiratory failure, lung neoplasm, occupational lung disease, Wilson-Mikity syndrome, neonatal aspiration syndrome, pneumonitis, vanishing lung syndrome, restrictive pulmonary disease, shrinking lung syndrome, dystrophic pulmonary ossification, pulmonary artery disease

Genetics & variants

GWAS landscape

12 GWAS associations across 2 studies. Top hits map to 5 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs1947921e-16CHP2 - PRKCBC1.7
rs8491775e-08COA1 - BLVRAC1.29
rs455936312e-06TRPM2T
rs26999433e-06C3orf85 - LINC00488C
rs95080364e-06FLT1G
rs287093446e-06MIR1302-7 - DNAJC8P3G
rs94287787e-06MIPEPP2 - CHRM3G
rs73018008e-06NUAK1G
rs95115728e-06RPL34P27 - LSP1P1C
rs726936568e-06SNRPNT
rs779536571e-05CHP2 - PRKCBC
rs124877361e-05SCAPC

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90728619Park K20251,9492,955Novel Genetic Loci for Nontuberculous Mycobacterial Pulmonary Disease and Potential Protective Effect of Body Mass Index.
GCST010983Cho J20204030Genome-wide association study of non-tuberculous mycobacterial pulmonary disease.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding1
Tier 2: splice/UTR0
Tier 3: regulatory0
Tier 4: intronic/intergenic11

MAF distribution

BucketVariants
common (>=0.05)12
low_freq (0.01-0.05)0
rare (<0.01)0
unknown0

Functional consequences

ConsequenceCount
intergenic_variant7
intron_variant4
missense_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs1947921623811027C>A,G,T0.23intergenic_variantCHP2 - PRKCB1e-16Tier 4: intronic/intergenic
rs849177743744189C>G,T0.37intergenic_variantCOA1 - BLVRA5e-08Tier 4: intronic/intergenic
rs455936312144434857C>T0.25intron_variantTRPM22e-06Tier 4: intronic/intergenic
rs26999433109157067C>T0.06intergenic_variantC3orf85 - LINC004883e-06Tier 4: intronic/intergenic
rs95080361328441740A>G,T0.35intron_variantFLT14e-06Tier 4: intronic/intergenic
rs287093448141966427A>G,T0.38intergenic_variantMIR1302-7 - DNAJC8P36e-06Tier 4: intronic/intergenic
rs94287781238930372A>G0.07intergenic_variantMIPEPP2 - CHRM37e-06Tier 4: intronic/intergenic
rs730180012106087258G>A0.33intron_variantNUAK18e-06Tier 4: intronic/intergenic
rs95115721324990188C>G,T0.48intergenic_variantRPL34P27 - LSP1P18e-06Tier 4: intronic/intergenic
rs726936561524861407G>A,T0.48intron_variantSNRPN8e-06Tier 4: intronic/intergenic
rs779536571623814403C>T0.24intergenic_variantCHP2 - PRKCB1e-05Tier 4: intronic/intergenic
rs12487736347418189C>A,T0.49missense_variantSCAP1e-05Tier 1: coding

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 15.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified11
PHASE43
PHASE21

Top trials by phase / activity

NCTPhaseStatusTitle
NCT04921943PHASE4RECRUITINGHypertonic Saline for MAC
NCT05192057PHASE4RECRUITINGHypertonic Saline Inhalation for Mycobacterium Avium Complex Pulmonary Disease
NCT05494957PHASE4UNKNOWNClinical Study of New Intensive Treatment Regimen for Severe Nontuberculous Mycobacterial Pulmonary Disease
NCT04922554PHASE2COMPLETEDOral Omadacycline vs. Placebo in Adults With NTM Pulmonary Disease Caused by Mycobacterium Abscessus Complex (MABc)
NCT04078412Not specifiedENROLLING_BY_INVITATIONA Registry for Nontuberculous Mycobacterial Pulmonary Disease
NCT05277857Not specifiedACTIVE_NOT_RECRUITINGMycobacterial Lung Diseases in Virginia: Sequencing and Clinical Determinants of Relapse and Outcome
NCT06262282Not specifiedENROLLING_BY_INVITATIONMycobacteriophage Treatment of Non-tuberculosis Mycobacteria
NCT06266442Not specifiedRECRUITINGM. Avium WGS During Mav-PD Treatment
NCT06488495Not specifiedRECRUITINGExercise Program in Patients With Nontuberculous Mycobacterial Pulmonary Disease
NCT06838442Not specifiedRECRUITINGRehabilitation Exercise and Education of Airway Clearance Technique in NTM-PD: A Prospective Cohort Study
NCT07076238Not specifiedRECRUITINGBiomarkers of Phage Treatment Response in NTM and Other Infections
NCT07363798Not specifiedNOT_YET_RECRUITINGAssociation of Nutrition and T Cell Immune Activity With Disease Progression in Nontuberculous Mycobacterial Pulmonary Disease
NCT07377864Not specifiedNOT_YET_RECRUITINGClinical Characteristics and Immune Escape Mechanism of Nontuberculous Mycobacterial Lung Disease in South China
NCT00970801Not specifiedUNKNOWNStudy of Nontuberculous Mycobacterial Lung Disease
NCT05678166Not specifiedUNKNOWNValidation of Soluble Programmed Death-1 in Predicting Progression of Nodular-bronchiectatic Form of Nontuberculous Mycobacterial Lung Disease: a Multi-Country Research

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
AZITHROMYCIN41
ETHAMBUTOL41
OMADACYCLINE41
RIFAMPIN41
SODIUM CHLORIDE41
CHEMBL429938101

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 21

This page pulls from 21 datasets indexed by BioBTree:

chembl_moleculecivic_evidenceclinical_trialsclinvardbsnpefogardgenccgwasgwas_studyhgncicd11medgenmeshmimmondomondochildmondoparentnordorphanetumls