DICER1 Syndrome

Preferred Label : DICER1 Syndrome;

NCIt definition : A rare, autosomal dominant inherited syndrome caused by mutations in the DICER1 gene. People with this syndrome are at an increased risk of developing pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumor of the ovary, and multinodular goiter.;

Details

Origin ID

C123317;

UMLS CUI

C3839822;

Currated CISMeF NLP mapping
- DICER1 tumor-predisposition syndrome [ORDO Disease]
- Pleuropulmonary blastoma family tumor susceptibility syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- DICER1 tumor-predisposition syndrome [ORDO Disease]
- Pleuropulmonary blastoma [OMIM Phenotype]
- Pleuropulmonary blastoma family tumor susceptibility syndrome (disorder) [SNOMED CT concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_has_associated_disease
- Blastoma [NCIt concept]
- Pituitary Gland Blastoma [NCIt concept]
- Pleuropulmonary Blastoma [NCIt concept]
- Type I Pleuropulmonary Blastoma [NCIt concept]
- Type II Pleuropulmonary Blastoma [NCIt concept]
- Type III Pleuropulmonary Blastoma [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_molecular_abnormality
- DICER1 Gene Mutation [NCIt concept]
disease_mapped_to_gene
- DICER1 Gene [NCIt concept]
disease_may_have_associated_disease
- Blastoma [NCIt concept]
- Childhood Cystic Nephroma [NCIt concept]
pathogenesis_of_disease_involves_gene
- DICER1 Gene [NCIt concept]
- DICER1 wt Allele [NCIt concept]
related_to_genetic_biomarker
- DICER1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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