ORPHA:524
Li-Fraumeni syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare, inherited, cancer predisposition syndrome characterized by the early-onset of multiple primary cancers including breast cancer, soft tissue and bone sarcomas, brain tumors, adrenal cortical carcinoma (ACC), leukemias, and other cancers.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Li-Fraumeni syndrome | |
| fr | Syndrome de Li-Fraumeni | |
| de | Li-Fraumeni-Syndrom | |
| es | Síndrome de Li-Fraumeni | |
| it | Sindrome di Li-Fraumeni | |
| nl | Syndroom van Li-Fraumeni | |
| pt | Síndrome Li-Fraumeni | |
| pl | Zespół Li i Fraumeni | |
| cs | Liův-Fraumeniho syndrom | Li-Fraumeni syndrom |
| uk | Синдром Лі-Фраумені | |
| zh | Li-Fraumeni综合征 | |
| tr | Li-Fraumeni sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 151623 | BTNT | validated | |
| OMIM | 609265 | BTNT | validated | |
| ICD-10 | C97 | NTBT | attributed | validated |
| ICD-11 | 2B51.Y | NTBT | index | validated |
| MONDO | 0018875 | E | validated | |
| MeSH | D016864 | E | validated | |
| UMLS | C0085390 | E | validated | |
| GARD | 6902 | E | validated | |
| MedDRA | 10066795 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:619340Inherited hematologic cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:252190Inherited nervous system cancer-predisposing syndrome
rare neurological diseases - ORPHA:314749Rare disease with adrenal Cushing syndrome as a major feature
rare endocrine diseases
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CDKN2A | Candidate gene tested in | Not yet assessed | HGNC:1787 | ENSG00000147889 | 600160 | 9p21.3 | cyclin dependent kinase inhibitor 2A | 28592523[PMID]_29263814[PMID] |
| CHEK2 | Candidate gene tested in | Not yet assessed | HGNC:16627 | ENSG00000183765 | 604373 | 22q12.1 | checkpoint kinase 2 | 11719428[PMID]_21562711[PMID]_20301488[PMID] |
| TP53 | Disease-causing germline mutation(s) in | Assessed | HGNC:11998 | ENSG00000141510 | 191170 | 17p13.1 | tumor protein p53 | 20301488[PMID] |
| MDM2 | Modifying germline mutation in | Assessed | HGNC:6973 | ENSG00000135679 | 164785 | 12q15 | MDM2 proto-oncogene | 23884452[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 7 / 100 000 | United Kingdom | Value and class | Validated | 23939697[PMID] |
| Point prevalence | 1-9 / 100 000 | 5 / 100 000 | United States | Value and class | Validated | 19556618[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_30335319[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
35 annotations · validated 2020-03-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002664 | Neoplasm | |
| Frequent (79-30%) | ||
| HP:0003002 | Breast carcinoma | |
| Occasional (29-5%) | ||
| HP:0006744 | Adrenocortical carcinoma | |
| HP:0009592 | Astrocytoma | |
| HP:0030070 | Central primitive neuroectodermal tumor | |
| HP:0030392 | Choroid plexus carcinoma | |
| HP:0200063 | Colorectal polyposis | |
| HP:0002888 | Ependymoma | |
| HP:0012174 | Glioblastoma multiforme | |
| HP:0001909 | Leukemia | |
| HP:0002665 | Lymphoma | |
| HP:0100006 | Neoplasm of the central nervous system | |
| HP:0007378 | Neoplasm of the gastrointestinal tract | |
| HP:0002669 | Osteosarcoma | |
| HP:0002859 | Rhabdomyosarcoma | |
| HP:0012126 | Stomach cancer | |
| Very rare (<4-1%) | ||
| HP:0006721 | Acute lymphoblastic leukemia | |
| HP:0004808 | Acute myeloid leukemia | |
| HP:0100768 | Choriocarcinoma | |
| HP:0003003 | Colon cancer | |
| HP:0012189 | Hodgkin lymphoma | |
| HP:0002885 | Medulloblastoma | |
| HP:0002861 | Melanoma | |
| HP:0002863 | Myelodysplasia | |
| HP:0012288 | Neoplasm of head and neck | |
| HP:0100605 | Neoplasm of the larynx | |
| HP:0100526 | Neoplasm of the lung | |
| HP:0002894 | Neoplasm of the pancreas | |
| HP:0100743 | Neoplasm of the rectum | |
| HP:0012539 | Non-Hodgkin lymphoma | |
| HP:0100615 | Ovarian neoplasm | |
| HP:0012125 | Prostate cancer | |
| HP:0009726 | Renal neoplasm | |
| HP:0010788 | Testicular neoplasm | |
| HP:0002890 | Thyroid carcinoma | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 21552135[PMID]_20301488[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/524
- This record as JSON: /data/d/524.json