LI-FRAUMENI SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: LFS2
Number of Symptoms 6
OrphanetNr:
OMIM Id: 609265
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002858) Meningioma 11479205 IBIS 22 / 7739
2
(HPO:0009733) Glioma 10617473 IBIS 8 / 7739
3
(HPO:0003002) Breast carcinoma 11479205 IBIS 23 / 7739
4
(HPO:0012126) Stomach cancer 11479205 IBIS 3 / 7739
5
(HPO:0100242) Sarcoma 10617473 IBIS 27 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In affected members of 3 unrelated families, 1 family with classic LFS and 2 with LFS-variant, without mutations in the TP53 gene (191170), Bell et al. (1999) identified heterozygous germline mutations in the CHK2 gene (see, e.g., 604373.0001 ...
Molecular genetics OMIM Vahteristo et al. (2001) analyzed the CHK1 (603078), CHK2, and p53 genes for mutations in 44 Finnish families with Li-Fraumeni syndrome, Li-Fraumeni-like syndrome, or a phenotype suggestive of Li-Fraumeni syndrome. Five different disease-causing mutations were observed in 7 ...