Birt-Hogg-Dube syndrome 2
MONDO:0800455Mondo
Findings
No curated finding names Birt-Hogg-Dube syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Birt-Hogg-Dube syndrome caused by the mutations in PRDM10.
Definition from the Mondo Disease Ontology (MONDO:0800455), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
5 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.
- Multiple lipomasHPOHP:0001012
- 7 of 7 reported patients
- FibrofolliculomaHPOHP:0030436
- 5 of 7 reported patients
- Perifollicular fibromaHPOHP:0032225
- 5 of 7 reported patients
- Clear cell renal cell carcinomaHPOHP:0006770
- 3 of 7 reported patients
- Pulmonary cystHPOHP:0032445
- 0 of 3 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.
- PRDM10HGNC:13995
- Limited · Ambry Genetics · Autosomal dominant · 2023
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: Birt-Hogg-Dube syndrome 2
- Also called
- BHD2