interstitial lung disease 1
MONDO:0030608Mondo
Findings
No curated finding names interstitial lung disease 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
13 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.
- DyspneaHPOHP:0002094
- 4 of 4 reported patients
- CracklesHPOHP:0030830
- 3 of 4 reported patients
- Ground-glass opacificationHPOHP:0025179
- 3 of 4 reported patients
- Interlobular septal thickeningHPOHP:0030879
- 3 of 4 reported patients
- ClubbingHPOHP:0001217
- 2 of 4 reported patients
- CoughHPOHP:0012735
- 2 of 4 reported patients
- Decreased DLCOHPOHP:0045051
- 2 of 4 reported patients
- Elevated bronchoalveolar lavage fluid eosinophil proportionHPOHP:0032987
- 1 of 2 reported patients
- Elevated bronchoalveolar lavage fluid neutrophil proportionHPOHP:0032977
- 1 of 2 reported patients
- Nonspecific interstitial pneumoniaHPOHP:0033584
- 1 of 2 reported patients
- Restrictive ventilatory defectHPOHP:0002091
- 2 of 4 reported patients
- Usual interstitial pneumoniaHPOHP:0031950
- 1 of 2 reported patients
Show the remaining 1
- Intralobular septal thickeningHPOHP:0033638
- 1 of 4 reported patients
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.
- SFTPA1HGNC:10798
- Strong · PanelApp Australia · Semidominant · 2025
- Moderate · ClinGen · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: interstitial lung disease 1
- Also called
- ILD1