| Metadata | |
|---|---|
| ID | DOID:0081063 |
| Name | DICER1 syndrome |
| Definition | A syndrome that is characterized by an increased risk of developing pleuropulmonary blastoma, multinodular goiter, ovarian Sertoli-Leydig cell tumors, and/or other types of tumors, and that has_material_basis_in heterozygous mutation in the DICER1 gene on chromosome 14q32. Mutations of the gene encoding the endoribonuclease, Dicer, disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression. https://medlineplus.gov/genetics/condition/dicer1-syndrome/, https://pubmed.ncbi.nlm.nih.gov/31409088/, https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC5977116/ |
| Xrefs | |
| Subsets |
DO_cancer_slim DO_rare_slim |
| Synonyms |
Pleuro-pulmonary blastoma familial tumor susceptibility [EXACT] Pleuro-pulmonary blastoma familial tumor susceptibility syndrome [EXACT] Pleuropulmonary blastoma familial tumor susceptibility syndrome [EXACT] PPB familial tumor susceptibility syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |