sarcoidosis, susceptibility to, 2
Findings
No curated finding names sarcoidosis, susceptibility to, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012888), read 2026-09-29. CC BY 4.0.
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
14 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.
- BronchiectasisHPOHP:0002110
- Occasional (5% to 29% of cases)
- Pleural effusionHPOHP:0002202
- Very rare (1% to 4% of cases)
- Chest painHPOHP:0100749
- ClubbingHPOHP:0001217
- Elevated bronchoalveolar lavage fluid lymphocyte proportionHPOHP:0032976
- EmphysemaHPOHP:0002097
- HemoptysisHPOHP:0002105
- HypoxemiaHPOHP:0012418
Show the remaining 2
- Pulmonary infiltratesHPOHP:0002113
- Restrictive ventilatory defectHPOHP:0002091
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.
- BTNL2HGNC:1142
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: sarcoidosis, susceptibility to, 2
- Also called
- BTNL2 sarcoidosissarcoidosis caused by mutation in BTNL2sarcoidosis, susceptibility to, type 2