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.
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
DICER1 syndrome
exact
DICER1-related pleuropulmonary blastoma
related
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
related
PPB familial tumour susceptibility syndrome
exact
PPBFTDS
exact
pleuro-pulmonary blastoma familial tumour susceptibility syndrome
exact
pleuropulmonary blastoma familial tumour susceptibility syndrome
exact
SPCC188.13c