Preferred Name |
LI-FRAUMENI SYNDROME |
|
Synonyms |
SBLA SYNDROME |
|
ID |
http://purl.bioontology.org/ontology/OMIM/151623 |
|
altLabel |
SBLA SYNDROME LFL LFS SARCOMA FAMILY SYNDROME OF LI AND FRAUMENI LI-FRAUMENI-LIKE SYNDROME |
|
cui |
C0085390 C2675080 |
|
Gene Locus |
17p13.1 |
|
Gene Symbol |
BCC7 BMFS5 P53 TP53 LFS1 |
|
Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU017418 http://purl.bioontology.org/ontology/OMIM/MTHU017027 http://purl.bioontology.org/ontology/OMIM/MTHU006873 http://purl.bioontology.org/ontology/OMIM/MTHU017414 http://purl.bioontology.org/ontology/OMIM/MTHU017412 http://purl.bioontology.org/ontology/OMIM/MTHU015030 http://purl.bioontology.org/ontology/OMIM/MTHU061332 http://purl.bioontology.org/ontology/OMIM/MTHU017417 http://purl.bioontology.org/ontology/OMIM/MTHU017413 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 |
Penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers [MISCELLANEOUS] Gestational choriocarcinoma is seen in female partners of LFS patients after parental-fetal transmission of germline TP53 mutation from male carriers [MISCELLANEOUS] Female mutation carriers have earlier age at onset compared to male mutation carriers [MISCELLANEOUS] Caused by mutation in tumor protein p53 (TP53, 191170.0001) [MOLECULAR BASIS] Increased risk of developing multiple primary cancers [MISCELLANEOUS] Early age of onset [MISCELLANEOUS] |
|
tui |
T047 |