Birt-Hogg-Dubé Syndrome
Birt-Hogg-Dubé syndrome (ORPHA:122, OMIM:135150) is a rare genetic condition that increases the risk of kidney cancer. A widely quoted figure states that 1 in 200,000 individuals will have BHD syndrome, but the conditions is generally considered to be underdiagnosed and the true prevalence is unclear. Persons with BHD syndrome can develop:
A definitive diagnosis of BHD syndrome is made by the detection of a pathogenic variant in one of an individual's two copies of the FLCN gene. In a subset of individuals a clinical diagnosis of BHD syndrome can be made based on clinical criteria even if a pathogenic FLCN variant is not identified.
BHD syndrome caused by FLCN pathogenic variants is inherited in an autosomal dominant way, which means that each child of an affected person has a 50% chance to inherit the FLCN variant and thereby BHD syndrome. Persons with BHD who are planning pregnancy should be offered referral to a medical genetics specialist for information and (reproductive) counselling. Pre-implantation genetic testing and/or invasive testing in pregnancy is technically possible.
According to the Clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome written by ERN GENTURIS:
More information Birt-Hogg-Dubé syndrome can be found on:
GeneReviews® - Birt-Hogg-Dubé Syndrome
Orphanet: Birt-Hogg-Dubé syndrome
Clinical practice guidelines |
ERN GENTURIS care pathway |
ERN GENTURIS patient journey |
ERN GENTURIS publications |
Written by ERN GENTURIS |
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BHD syndrome guideline - Clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome |
Under development |
Under development |
Thematic Group 4: Other rare – predominantly malignant – genturis |
ERN GENTURIS webinars - Thematic group 4: Other rare genturis
ERN GENTURIS webinars - General
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.