Browse

Explore conditions, clinical trials, and the organisations running them.

← All categories

Up to: Hereditary disease · Syndromic disease

DICER1-related tumor predisposition

Pathogenic germline variation in DICER1 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including pleuropulmonary blastoma, pulmonary cysts, thyroid gland neoplasia, ovarian tumors, and cystic nephroma. Other syndromic features such as macrocephaly have been described.

1 trial tagged with this condition →