loading...| Preferred Name |
LI-FRAUMENI SYNDROME |
| Synonyms |
LFL |
| ID |
http://purl.bioontology.org/ontology/OMIM/151623 |
| altLabel |
LFL LFS SBLA SYNDROME LI-FRAUMENI-LIKE SYNDROME SARCOMA FAMILY SYNDROME OF LI AND FRAUMENI |
| cui |
C2675080 C0085390 |
| Gene Locus |
17p13.1 |
| Gene Symbol |
LFS1 BCC7 BMFS5 TP53 P53 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU017027 http://purl.bioontology.org/ontology/OMIM/MTHU017413 http://purl.bioontology.org/ontology/OMIM/MTHU017418 http://purl.bioontology.org/ontology/OMIM/MTHU017416 http://purl.bioontology.org/ontology/OMIM/MTHU017414 http://purl.bioontology.org/ontology/OMIM/MTHU015030 http://purl.bioontology.org/ontology/OMIM/MTHU061332 http://purl.bioontology.org/ontology/OMIM/MTHU017046 http://purl.bioontology.org/ontology/OMIM/MTHU006873 http://purl.bioontology.org/ontology/OMIM/MTHU017415 http://purl.bioontology.org/ontology/OMIM/MTHU017419 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| Moved from |
609266 |
| notation |
151623 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
LI-FRAUMENI SYNDROME |
| Scope Statement |
Early age of onset [MISCELLANEOUS] Female mutation carriers have earlier age at onset compared to male mutation carriers [MISCELLANEOUS] Increased risk of developing multiple primary cancers [MISCELLANEOUS] Penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers [MISCELLANEOUS] Caused by mutation in tumor protein p53 (TP53, 191170.0001) [MOLECULAR BASIS] Gestational choriocarcinoma is seen in female partners of LFS patients after parental-fetal transmission of germline TP53 mutation from male carriers [MISCELLANEOUS] |
| tui |
T047 |