ZFIN Human Disease: DICER1 syndrome

OBO ID: DOID:0081063

Term Name:	DICER1 syndrome		Search Ontology:
Synonyms:	Pleuro-pulmonary blastoma familial tumor susceptibility Pleuro-pulmonary blastoma familial tumor susceptibility syndrome Pleuropulmonary blastoma familial tumor susceptibility syndrome PPB familial tumor susceptibility 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. (3)
References:	OMIM:601200 ORDO:284343
Ontology:	Human Disease ( DOID:0081063 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

OTHER DICER1 syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
DICER1	dicer1	Pleuropulmonary blastoma	601200

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None