ORPHA:440402
Interstitial lung disease due to ABCA3 deficiency
Also known as: Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency
Publications
2
7th percentile
Trials
0
Interventional, condition-specific
Researchers
44
Distinct authors in sample
Gene link
ABCA3
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and dyspnea.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012582
- MeSH:C567046
- OMIM:610921
- UMLS:C1970456
Additional Mondo synonyms (3)
interstitial lung disease due to ABCA3 deficiency · interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency · surfactant metabolism dysfunction, pulmonary, type 3
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — ABCA3
- LiteraturePresent
2 matched papers (1 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 295 for broader category interstitial lung disease
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (ABCA3).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
2
2 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
2 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
1 in the last 10 years · high confidence · 7th percentile (publications denominator)
Phrase hits: 2 · MeSH hits: 0
Who's working on it?
44
Distinct author names in 2 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01
- 02
- 03Amoroso A1 paper · 2021
Department of Medical Sciences, University of Torino, Via Nizza 52, 10126, Torino, Italy.
Papers in Europe PMC - 04Benetti E1 paper · 2021
Pediatric Nephrology, Dialysis and Transplant Unit, Department of Women's and Children's Health, Padua University Hospital, Padua, Italy.
Papers in Europe PMC - 05Bertani A1 paper · 2021
Division of Thoracic Surgery and Lung Transplantation, Department for the Treatment and Study of Cardiothoracic Diseases and Cardiothoracic Transplantation, IRCCS-ISMETT, Palermo, Italy.
Papers in Europe PMC - 06Boffini M1 paper · 2021
Heart and Lung Transplant Center, Cardiac Surgery Division, Surgical Sciences Department, University of Torino, Torino, Italy.
Papers in Europe PMC - 07Boldrini R1 paper · 2015
Electron Microscopy, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Papers in Europe PMC - 08
- 09Cardillo M1 paper · 2021
National Transplant Center, Istituto Superiore Di Sanità, Roma, Italy.
Papers in Europe PMC - 10Catalano S1 paper · 2021
General Surgery 2U - Liver Transplant Center, Azienda Ospedaliera Universitaria Città Della Salute E Della Scienza Di Torino, University of Turin, Torino, Italy.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 295 trials are registered for interstitial lung disease, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
295 interventional trials matched interstitial lung disease, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: interstitial lung disease
295
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT01280994·RECRUITING·Hyperpolarized 129Xe MRI for Imaging Pulmonary Function
Conditions: Interstitial Lung Disease·Matched via name phrase
- NCT07643038·NOT YET RECRUITING·Treatment Strategy for Patients With RA-ILD
Conditions: Rheumatoid Arthritis Associated Interstitial Lung Disease·Matched via name phrase
- NCT07473700·NOT YET RECRUITING·Study of TX000045 in Participants With Pulmonary Hypertension Due to Interstitial Lung Disease
Conditions: Hypertension, Pulmonary · Lung Diseases, Interstitial·Matched via name phrase
- NCT06767904·NOT YET RECRUITING·Continuous Versus Demand-Based Oxygen in Patients With Fibrotic Interstitial Lung Disease and Chronic Obstructive Pulmonary Disease
Conditions: Interstitial Lung Disease · Chronic Obstructive Pulmonary Disease·Matched via name phrase
- NCT07319598·RECRUITING·A Study to Test Tetrandrine Tablets for Connective Tissue Disease-Related Lung Disease
Conditions: Interstitial Lung Disease (ILD) · Connective Tissue Disease-associated Interstitial Lung Disease·Matched via name phrase
- NCT06297096·RECRUITING·Study of the Efficacy of Nintedanib+Tocilizumab in Patients With Systemic Sclerosis and Interstitial Lung Disease
Conditions: Systemic Sclerosis · Interstitial Lung Disease·Matched via name phrase
- NCT06326957·RECRUITING·Reducing Chronic Breathlessness in Adults by Following a Self-guided, Internet Based Supportive Intervention (SELF-BREATHE)
Conditions: Chronic Obstructive Pulmonary Disease · Bronchiectasis · Interstitial Lung Disease · Lung Cancer·Matched via name phrase
- NCT03630211·RECRUITING·Autologous Stem Cell Transplantation in Patients With Systemic Sclerosis
Conditions: Systemic Sclerosis · Diffuse Sclerosis Systemic · Interstitial Lung Disease · Pulmonary Hypertension·Matched via name phrase
- NCT06247397·RECRUITING·Effect of HIgh-flow Therapy in Long-term Oxygen Therapy
Conditions: Chronic Obstructive Pulmonary Disease Severe · Interstitial Lung Disease · Chronic Respiratory Failure With Hypoxia·Matched via name phrase
- NCT07141810·NOT YET RECRUITING·Efficacy and Safety of Early Antifibrotic Therapy for Non-progressive Fibrotic Interstitial Lung Disease
Conditions: Fibrotic Interstitial Lung Disease·Matched via name phrase
- NCT06911632·RECRUITING·Multi-site Study of the Clinical Impact of an AI-assisted Approach to Referring Patients With Interstitial Lung Disease for Diagnostic Evaluation of Pulmonary Hypertension
Conditions: Pulmonary Hypertension · Interstitial Lung Disease (ILD)·Matched via name phrase
- NCT06992661·RECRUITING·A Study of the Pharmacokinetics and Safety of Single-dose Inhaled RJ026 in Healthy Volunteers and Patients With Interstitial Lung Disease
Conditions: Interstitial Lung Disease (ILD) · Healthy Volunteers·Matched via name phrase
- NCT07539701·NOT YET RECRUITING·An Initial Experience With the Disposable Celsio Cryocatheter System for Diagnostic and Interventional Bronchoscopy
Conditions: Lung Cancer (Diagnosis) · Interstitial Lung Disease (ILD)·Matched via name phrase
- NCT07283081·RECRUITING·Impact of Capillaroscopy in the Investigation of Diffuse Interstitial Pneumonias
Conditions: Interstitial Lung Disease · Connective Tissue Diseases·Matched via name phrase
- NCT07451977·RECRUITING·Effects of Oxygen Supplementation During the 6-Minute Walk Test in Chronic Respiratory Failure or Exertional Hypoxemia
Conditions: Chronic Respiratory Failure · Hypoxemia · Chronic Obstructive Pulmonary Disease (COPD) · Interstitial Lung Disease·Matched via name phrase
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Interstitial lung disease due to ABCA3 deficiency" OR "Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency" OR "surfactant metabolism dysfunction, pulmonary, type 3"
MeSH descriptor terms unioned into the query: Surfactant Metabolism Dysfunction, Pulmonary, 3
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Interstitial lung disease due to ABCA3 deficiency" OR "Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency" OR "surfactant metabolism dysfunction, pulmonary, type 3" OR "Surfactant Metabolism Dysfunction, Pulmonary, 3" OR "ABCA3" OR "inherited interstitial lung disease"
Recall-expansion terms: ABCA3, inherited interstitial lung disease
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"interstitial lung disease"
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T16:21:29.505Z