Hereditary cancer predisposition including adrenocortical carcinoma.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Endocrine oncology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, adrenocortical carcinoma in infants and children
- Gene(s) involved
- CHEK2, TP53
- Alternative names & eponyms
- SBLA syndrome
Etiology & mechanism
TP53 germline loss.
Gene(s) involved (2)
Symptoms & signs (7)
In plain terms, someone with Li–Fraumeni syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
1 shared
Bloom syndrome
leukemia
1 shared
Constitutional mismatch repair deficiency syndrome
leukemia
1 shared
Cowden syndrome
breast cancer
1 shared
McCune–Albright syndrome
cushing syndrome
1 shared
Myelodysplastic syndromes
leukemia
1 shared
Shwachman–Diamond syndrome
leukemia
1 shared
Werner syndrome
sarcoma
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