DICER1 syndrome

Also known as: Pleuropulmonary blastoma familial tumor predisposition

Hereditary predisposition to multinodular goiter, ovarian sex-cord tumors and pleuropulmonary blastoma.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Endocrine oncology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, early childhood
Gene(s) involved: DICER1

Etiology & mechanism

DICER1 haploinsufficiency with somatic second hit.

Gene(s) involved (1)

DICER1

Symptoms & signs (6)

cystic nephromamacrocephalymultinodular goiterovarian sertoli–leydig tumorpleuropulmonary blastomathyroid cancer

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.