DICER1-related tumor predisposition
Findings
No curated finding names DICER1-related tumor predisposition yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0100216), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DICER1HGNC:17098
- Definitive · ClinGen · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: DICER1-related tumor predisposition
- Also called
- DICER1 syndromepleuro-pulmonary blastoma familial tumour susceptibility syndromepleuropulmonary blastoma familial tumour susceptibility syndromePPB familial tumour susceptibility syndromePPBFTDS