Overview
Interstitial lung disease due to ABCA3 deficiency (also called ABCA3-related lung disease or ABCA3 surfactant deficiency) is a rare inherited condition that affects the lungs. It is caused by changes (mutations) in the ABCA3 gene, which gives the body instructions for making a protein that is essential for producing surfactant. Surfactant is a slippery substance that coats the tiny air sacs in the lungs and keeps them from collapsing when you breathe out. Without enough working ABCA3 protein, surfactant does not form properly, and the lungs become stiff, inflamed, and scarred over time. This disease can show up in very different ways depending on the person. In newborns, it can cause severe breathing failure shortly after birth. In older infants, children, and even some adults, it may cause a slower, progressive form of lung disease with ongoing breathing problems, poor growth, and low oxygen levels. The lungs gradually develop scarring, which is called interstitial lung disease. There is currently no cure for ABCA3 deficiency. Treatment focuses on supporting breathing, reducing inflammation, and improving quality of life. Some children need supplemental oxygen or mechanical ventilation. Lung transplantation has been performed in severe cases and can be life-saving. Researchers are actively studying new therapies, including drugs that might help the faulty ABCA3 protein work better.
Key symptoms:
Rapid or labored breathingPersistent low oxygen levels in the bloodBluish tint to the lips or skin (cyanosis)Chronic coughDifficulty feeding or poor weight gain in infantsFailure to thrive or slow growth in childrenFatigue and low energyExercise intolerance — getting winded with minimal activityRecurrent respiratory infectionsCrackling sounds in the lungs heard by a doctorClubbing of the fingers (rounded, enlarged fingertips) in some cases
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Interstitial lung disease due to ABCA3 deficiency.
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Specialists
View all specialists →No specialists are currently listed for Interstitial lung disease due to ABCA3 deficiency.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Interstitial lung disease due to ABCA3 deficiency.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific ABCA3 mutations does my child or I have, and what do they mean for how severe the disease might be?,Should other family members be tested to see if they are carriers?,What are the signs that the lung disease is getting worse, and how will we monitor for that?,Is my child or am I a candidate for lung transplantation, and when should we start that conversation?,Are there any clinical trials or research studies we could participate in?,What anti-inflammatory treatments are you recommending, and what are the risks and benefits?,What should I do in a respiratory emergency at home, and when should I call 911?
Common questions about Interstitial lung disease due to ABCA3 deficiency
What is Interstitial lung disease due to ABCA3 deficiency?
Interstitial lung disease due to ABCA3 deficiency (also called ABCA3-related lung disease or ABCA3 surfactant deficiency) is a rare inherited condition that affects the lungs. It is caused by changes (mutations) in the ABCA3 gene, which gives the body instructions for making a protein that is essential for producing surfactant. Surfactant is a slippery substance that coats the tiny air sacs in the lungs and keeps them from collapsing when you breathe out. Without enough working ABCA3 protein, surfactant does not form properly, and the lungs become stiff, inflamed, and scarred over time. This
How is Interstitial lung disease due to ABCA3 deficiency inherited?
Interstitial lung disease due to ABCA3 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.