Birt-Hogg-Dube syndrome 1
Findings
No curated finding names Birt-Hogg-Dube syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Birt-Hogg-Dube (BHD) syndrome in which the cause of the disease is a variation in the FLCN gene.
Definition from the Mondo Disease Ontology (MONDO:0800445), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
26 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.
- FibrofolliculomaHPOHP:0030436
- 75 of 89 reported patients
- Very frequent (80% to 99% of cases)
- Skin tagsHPOHP:0010609
- Very frequent (80% to 99% of cases)
- Multiple pulmonary cystsHPOHP:0005948
- Frequent (30% to 79% of cases)
- Repeated pneumothoracesHPOHP:0006522
- Frequent (30% to 79% of cases)
- Spontaneous pneumothoraxHPOHP:0002108
- 27 of 51 reported patients
- Frequent (30% to 79% of cases)
- Renal cell carcinomaHPOHP:0005584
- 30 of 51 reported patients
- Occasional (5% to 29% of cases)
Show the remaining 14
- NeoplasmHPOHP:0002664
- Occasional (5% to 29% of cases)
- Oral mucosal papuleHPOHP:6000957
- Occasional (5% to 29% of cases)
- Parathyroid adenomaHPOHP:0002897
- Occasional (5% to 29% of cases)
- PneumothoraxHPOHP:0002107
- Occasional (5% to 29% of cases)
- Renal cystHPOHP:0000107
- Occasional (5% to 29% of cases)
- Salivary gland oncocytomaHPOHP:0031523
- Occasional (5% to 29% of cases)
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.
- FLCNHGNC:27310
- Definitive · Ambry Genetics · Autosomal dominant · 2023
- Definitive · G2P · Autosomal dominant · 2017
Where it sits
- A kind of
Other names
2 names
Resolves to: Birt-Hogg-Dube syndrome 1
- Also called
- fibrofolliculomas with trichodiscomas and acrochordonsHornstein-Knickenberg syndrome