GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Li-Fraumeni Syndrome  
Disease Aliases (23)

Lfl

Lfs

Lfs1

Lfs3

Li-fraumeni-like syndrome

Li fraumeni syndrome

Li-fraumeni familiar cancer susceptibility syndrome

Li-fraumeni familial cancer susceptibility syndrome

Li-fraumeni syndrome

Li-fraumeni syndrome 1

Li-fraumeni syndrome 1; lfs1

Li-fraumeni syndrome 3

Li-fraumeni syndrome 3; lfs3

Li-fraumeni syndrome caused by mutation in tp53

Li-fraumeni syndrome type 1

Li-fraumeni syndrome; lfs

Sarcoma family syndrome of li and fraumeni

Sbla syndrome

Sbla syndrome (sarcoma, breast, leukemia, and adrenal gland)

Sarcoma, breast, leukemia, and adrenal gland (sbla) syndrome

Tp53 li-fraumeni syndrome

Sarcoma family syndrome of 51 and fraumeni

Sarcoma, breast, leukaemia and adrenal gland syndrome

Associated Genes (4)
 

NCBI-RefSeq:  CDKN2A   (Cyclin dependent kinase inhibitor 2A)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  MDM2   (MDM2 proto-oncogene)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  TP53   (Tumor protein p53)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  CHEK2   (Checkpoint kinase 2)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Li-Fraumeni syndrome OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations