" /> Birt-hogg-dube syndrome 1 - CISMeF





Preferred Label : Birt-hogg-dube syndrome 1;

Symbol : BHD1;

CISMeF acronym : BHD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hornstein-knickenberg syndrome; Fibrofolliculomas with trichodiscomas and acrochordons; BHD;

Description : Birt-Hogg-Dube syndrome is an autosomal dominant genodermatosis characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax (Nickerson et al., 2002). BHD is similar to, but histologically and genetically distinct from, familial multiple discoid fibromas (FMDF; 190340).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the folliculin gene (FLCN, 607273.0001);

Neoplasia : Renal carcinoma; Parotid oncocytomas; Neural tissue tumors; Lipomas; Angiolipomas;

Prefixed ID : #135150;

Détails


Vous pouvez consulter :


Nous contacter.
30/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.