FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term DICER1 syndrome ID (Ontology) DOID:0081063 (Human Disease)
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.
Also Known As "Pleuro-pulmonary blastoma familial tumor susceptibility" ; "Pleuro-pulmonary blastoma familial tumor susceptibility syndrome" ; "Pleuropulmonary blastoma familial tumor susceptibility syndrome" (for all, see Synonyms field below)
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 Genes
 DICER1 syndrome       2
 for disease ribbon | DICER1 syndrome       2
 model of | DICER1 syndrome       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                DICER1 syndrome  2 rec.
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Is a autosomal dominant disease
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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
Secondary IDs
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MIM:601200
ORDO:284343