DICER1-related tumor predisposition
Go to external page http://purl.obolibrary.org/obo/MONDO_0100216
Pathogenic germline variation in DICER1 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including pleuropulmonary blastoma, pulmonary cysts, thyroid gland neoplasia, ovarian tumors, and cystic nephroma. Other syndromic features such as macrocephaly have been described. [ https://clinicalgenome.org/affiliation/40023/ http://www.ncbi.nlm.nih.gov/pubmed/21266384 http://www.ncbi.nlm.nih.gov/pubmed/34599283 http://www.ncbi.nlm.nih.gov/pubmed/24761742 https://clinicalgenome.org/affiliation/50050/ ]
Synonyms: pleuro-pulmonary blastoma familial tumour susceptibility syndrome PPBFTDS pleuropulmonary blastoma familial tumor susceptibility syndrome pleuro-pulmonary blastoma familial tumor susceptibility syndrome PPB familial tumor susceptibility syndrome pleuropulmonary blastoma familial tumour susceptibility syndrome PPB familial tumour susceptibility syndrome DICER1 syndrome
Term information
- ICD9:199.1 (MONDO:relatedTo)
- Orphanet:284343 (MONDO:equivalentTo)
- UMLS:C3839822 (MONDO:equivalentTo)
- GARD:10734 (MONDO:GARD)
- DOID:0081063 (MONDO:equivalentTo)
- SCTID:702411003 (MONDO:equivalentTo)
- NCIT:C123317 (MONDO:equivalentTo)
- MEDGEN:825667 (MONDO:equivalentTo)
ordo_disorder, gard_rare, rare, orphanet_rare, clingen
https://github.com/monarch-initiative/mondo/issues/6460
https://github.com/monarch-initiative/mondo/issues/5779
http://linkedlifedata.com/resource/umls/id/C3839822
http://identifiers.org/medgen/825667
http://www.orpha.net/ORDO/Orphanet_284343
http://purl.obolibrary.org/obo/DOID_0081063
http://identifiers.org/snomedct/702411003
http://purl.obolibrary.org/obo/NCIT_C123317
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
DICER1-related pleuropulmonary blastoma
https://rarediseases.info.nih.gov/diseases/10734/dicer1-related-pleuropulmonary-blastoma-cancer-predisposition-syndrome