1 / 1
|
DeCS
|
|
|
Descriptor English:
|
|
Birt-Hogg-Dube Syndrome
|
Descriptor Spanish:
|
|
Síndrome de Birt-Hogg-Dubé
|
Descriptor Portuguese:
|
|
Síndrome de Birt-Hogg-Dubé
|
Synonyms English:
|
|
Birt Hogg Dube Syndrome
Birt-Hogg-Dubé Syndrome
Fibrofolliculomas with Trichodiscomas and Acrochordons
Hornstein-Birt-Hogg-Dubé Syndrome
Hornstein-Knickenberg Syndrome
|
Tree Number:
|
|
C04.700.212
C16.320.700.212
|
Definition English:
|
|
Autosomal dominant neoplastic syndrome characterised by genodermatosis, lung cysts, spontaneous and recurrent PNEUMOTHORAX; and RENAL CANCER. It is associated with mutations in the folliculin protein gene (FLCN protein). |
History Note English:
|
|
2011
|
Allowable Qualifiers English:
|
|
|
Record Number:
|
|
53944
|
Unique Identifier:
|
|
D058249
|
Occurrence in VHL:
|
|
|
Similar:
|
|
DeCS
|