Birt-Hogg-Dubé Syndrome
Birt-Hogg-Dubé Syndrome (ORPHA:122) is a rare genetic disorder (1 in 100,000 individuals) that increases the risk of multiple benign (non-cancerous) and malign (cancerous) tumours in young adults and adults, with different manifestations and severity. Affected individuals can develop:
BHD Syndrome is diagnosed by clinical manifestations and mutations in one of the two copies of the FLCN gene (also known as BHD gene). Some individuals (7-9%) fulfill clinical criteria but do not have an identifiable FLCN mutation.
BHDS caused by FLCN gene mutations is inherited within families in an autosomal dominant way, which means that each child of an affected person has a 50% chance to inherit their FLCN mutation and develop the disease. Inheritance pattern in individuals without gene mutation is unknown, thus clinical screening is also recommended for their children affected with clinical manifestations.
Individuals at risk should be followed in genetic counselling units with:
More information Birt-Hogg-Dubé Syndrome can be found on:
GeneReviews® - Birt-Hogg-Dubé Syndrome
Orphanet: Birt-Hogg-Dubé syndrome
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Thematic Group 4: Other rare – predominantly malignant – genturis
A list of healthcare providers with expertise in Thematic Group 4: Other rare - predominantly malignant - genturis can be found here.
A non-exhaustive list of patient associations for genetic tumour risk syndromes in EU member states can be found here.