Birt-Hogg-Dube syndrome
ICD-10: Q87MeSH: D058249ORPHA: 122
Overview
human autosomal dominant genetic disorder that can cause susceptibility to kidney cancer, renal and pulmonary cysts
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Birt-Hogg-Dube syndrome, sourced from HPO and Orphanet clinical annotations.
Skin tagsFibrofolliculomaSpontaneous pneumothoraxMultiple pulmonary cystsRepeated pneumothoracesRenal cystMultiple lipomasPneumothoraxNeoplasmMedullary thyroid carcinomaParathyroid adenomaRenal cell carcinomaAngiofibromasCutaneous melanomaThyroid noduleSalivary gland oncocytomaTrichodiscomaEpidermoid cystCollagenomaThyroid cystOral mucosal papule
Classification & Codes
ICD-10 Code
Q87MeSH Code
D058249Orphanet Code
ORPHA:122Birt-Hogg-Dube syndrome
| ICD-10 | Q87 |
| MeSH | D058249 |
| Orphanet | ORPHA:122 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO