A rare genetic syndrome with an autosomal dominant pattern of inheritance. It is caused by a mutation in the FLCN gene which encodes the protein folliculin. Clinical signs include multiple benign growths of the skin and lungs that begin to manifest in the second or third decade of life. The clinical course is characterized by the progressive growth of new and existing neoplasms. In those with mutations in both copies of FLCN, the kidneys may also be affected by the growth of benign or malignant neoplasms. [ NCI ]

Synonyms: Birt-Hogg-Dube Syndrome Birt-Hogg-Dube syndrome

This is just here as a test because I lose it

Term information

Subsets

NCIT_C159106, NCIT_C118168, NCIT_C165258, NCIT_C116977, NCIT_C157711, NCIT_C177537, NCIT_C177516, NCIT_C177281

ALT DEFINITION

An inherited condition in which benign tumors develop in hair follicles on the head, chest, back, and arms. People who have this disorder may be at increased risk of developing colon or kidney cancer.

Contributing Source

CTRP

Cellosaurus

GDC

CCPS

Display Name

Birt-Hogg-Dube Syndrome

Is Value For GDC Property

http://purl.obolibrary.org/obo/NCIT_C17103

Legacy Concept Name

Birt-Hogg-Dube_Syndrome

Maps To

Birt-Hogg-Dube Syndrome

Preferred Name

Birt-Hogg-Dube Syndrome

Related To Genetic Biomarker

http://purl.obolibrary.org/obo/NCIT_C63514

Semantic Type

Disease or Syndrome

UMLS CUI

C0346010

code

C28244