interstitial lung disease due to ABCA3 deficiency
Findings
No curated finding names interstitial lung disease due to ABCA3 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal 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 progressive dyspnea.
Definition from the Mondo Disease Ontology (MONDO:0012582), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset · Neonatal death
HPO, annotations 2026-09-02
Features
22 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Ground-glass opacificationHPOHP:0025179
- 11 of 11 reported patients
- Reticular pattern on pulmonary HRCTHPOHP:0025390
- 11 of 11 reported patients
- Neonatal respiratory distressHPOHP:0002643
- 30 of 37 reported patients · Neonatal onset
- Cystic pattern on pulmonary HRCTHPOHP:0025394
- 8 of 11 reported patients
- Bronchial wall thickeningHPOHP:0033542
- 7 of 11 reported patients
- Desquamative interstitial pneumonitis
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ABCA3HGNC:33
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: interstitial lung disease due to ABCA3 deficiency
- Also called
- interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiencysurfactant metabolism dysfunction, pulmonary, type 3