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Li-Fraumeni syndrome
3 OMIM references -
2 associated genes
299 connected diseases
16 signs/symptoms
Disease Type of connection
Hereditary breast and ovarian cancer syndrome
Familial pancreatic carcinoma
Familial prostate cancer
Precursor B-cell acute lymphoblastic leukemia
B-cell chronic lymphocytic leukemia
Giant cell glioblastoma
Gliosarcoma
Adrenocortical carcinoma
Essential thrombocythemia
Osteosarcoma
Papilloma of choroid plexus
Blackfan-Diamond anemia
Amyotrophic lateral sclerosis
Precursor T-cell acute lymphoblastic leukemia
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Acute promyelocytic leukemia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Young adult-onset Parkinsonism
3M syndrome
Coffin-Siris syndrome
46,XY partial gonadal dysgenesis
COFS syndrome
Constitutional mismatch repair deficiency syndrome
Hereditary nonpolyposis colon cancer
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Multiple endocrine neoplasia type 1
Cockayne syndrome type 1
Cockayne syndrome type 2
Cockayne syndrome type 3
UV-sensitive syndrome
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Primary peritoneal carcinoma
Familial rhabdoid tumor
Trichothiodystrophy
Squamous cell carcinoma of head and neck
Fanconi anemia
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Split hand-split foot malformation
Ataxia-telangiectasia
Ataxia-telangiectasia variant
Combined cervical dystonia
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Mantle cell lymphoma
Seckel syndrome
Angelman syndrome
Familial advanced sleep-phase syndrome
Prader-Willi syndrome due to imprinting mutation
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Distal 22q11.2 microdeletion syndrome
Chronic myeloid leukemia
Retinitis pigmentosa
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Melanoma of soft part
Adult-onset distal myopathy due to VCP mutation
Behavioral variant of frontotemporal dementia
Familial retinoblastoma
Monosomy 13q14
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Unilateral retinoblastoma
Autosomal dominant progressive external ophthalmoplegia
Desmoplastic small round cell tumor
Familial isolated dilated cardiomyopathy
Familial thoracic aortic aneurysm and aortic dissection
Papillary or follicular thyroid carcinoma
Chuvash erythrocytosis
Von Hippel-Lindau disease
Severe combined immunodeficiency due to DNA-PKcs deficiency
Osteogenesis imperfecta type 3
Spinocerebellar ataxia type 12
Glycogen storage disease due to liver phosphorylase kinase deficiency
Common variable immunodeficiency
Hypohidrotic ectodermal dysplasia with immunodeficiency
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Bladder exstrophy
EEC syndrome
Limb-mammary syndrome
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Bloom syndrome
Branchio-oculo-facial syndrome
Familial congenital mirror movements
Huntington disease
Intellectual deficit, X-linked, Nascimento type
Juvenile Huntington disease
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Spinocerebellar ataxia type 17
Werner syndrome
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Dystonia 16
Pontocerebellar hypoplasia type 1
Xeroderma pigmentosum complementation group B
Atypical teratoid tumor
Autosomal recessive cutis laxa type 1
Estrogen resistance syndrome
Familial multiple meningioma
Isolated brachycephaly
Isolated scaphocephaly
Lethal arteriopathy syndrome due to FBLN4 deficiency
Neuroblastoma
Neurofibromatosis type 3
Saethre-Chotzen syndrome
Spinocerebellar ataxia type 26
Xeroderma pigmentosum complementation group D
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Bannayan-Riley-Ruvalcaba syndrome
Cowden syndrome
Distal hereditary motor neuropathy type 2
Glucocorticoid resistance
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Juvenile polyposis of infancy
Kearns-Sayre syndrome
Lhermitte-Duclos disease
Macrocephaly-autism syndrome
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Mitochondrial neurogastrointestinal encephalomyopathy
Proteus syndrome
Proteus-like syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
17p13.3 microduplication syndrome
Denys-Drash syndrome
Distal 17p13.3 microdeletion syndrome
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Follicular lymphoma
Frasier syndrome
Intellectual deficit, X-linked, Turner type
Intravascular large B-cell lymphoma
Meacham syndrome
Miller-Dieker syndrome
Nephroblastoma
Peutz-Jeghers syndrome
Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
WAGR syndrome
Hyperinsulinism due to HNF4A deficiency
MODY syndrome
Developmental delay with autism spectrum disorder and gait instability
X-linked dystonia-parkinsonism
Aneurysm - osteoarthritis syndrome
Familial melanoma
Generalized resistance to thyroid hormone
Lennox-Gastaut syndrome
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Nijmegen breakage syndrome-like disorder
Peripheral resistance to thyroid hormones
Selective pituitary resistance to thyroid hormone
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Hypotonia with lactic acidemia and hyperammonemia
Syndromic multisystem autoimmune disease due to Itch deficiency
Cerebellar ataxia - hypogonadism
Ataxia - oculomotor apraxia type 1
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
Constitutional megaloblastic anemia with severe neurologic disease
Hypocalcemic vitamin D-resistant rickets
Paternal uniparental disomy of chromosome 6
Transient neonatal diabetes mellitus
Alpha-crystallinopathy
Cerebellar ataxia-deafness-narcolepsy syndrome
Congenital lactic acidosis, Saguenay-Lac-St. Jean type
Fatal infantile hypertonic myofibrillar myopathy
Keratosis follicularis spinulosa decalvans
Posterior polar cataract
Prader-Willi syndrome due to translocation
Purine nucleoside phosphorylase deficiency
Zonular cataract
Burkitt lymphoma
Cornelia de Lange syndrome
Endocrine-cerebro-osteodysplasia syndrome
Ethylmalonic encephalopathy
Wilson-Turner syndrome
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Combined immunodeficiency due to STK4 deficiency
Cabezas syndrome
Desmosterolosis
Hypodontia - dysplasia of nails
Oligodontia
Systemic-onset juvenile idiopathic arthritis
1p36 deletion syndrome
22q11.2 deletion syndrome
46,XY complete gonadal dysgenesis
Alpha-thalassemia - X-linked intellectual deficit syndrome
Alpha-thalassemia - myelodysplastic syndrome
Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Atelosteogenesis type I
Atelosteogenesis type III
Autoimmune lymphoproliferative syndrome
Autoimmune lymphoproliferative syndrome with recurrent infections
Autosomal dominant Larsen syndrome
Autosomal dominant limb-girdle muscular dystrophy type 1D
Autosomal dominant severe congenital neutropenia
Autosomal dominant spastic paraplegia type 13
Autosomal recessive limb-girdle muscular dystrophy type 2S
Autosomal recessive primary microcephaly
Autosomal recessive spastic paraplegia type 45
Autosomal recessive systemic lupus erythematosus
Baraitser-Winter syndrome
Boomerang dysplasia
Carpenter-Waziri syndrome
Chronic mucocutaneous candidiasis
Chudley-Lowry-Hoar syndrome
Cleidocranial dysplasia
Complete androgen insensitivity syndrome
Congenital communicating hydrocephalus
Congenital fibrosis of extraocular muscles
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Costello syndrome
Developmental malformations - deafness - dystonia
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
FTH1-related iron overload
Familial cortical myoclonus
Familial hypospadias
Fatal infantile cytochrome C oxidase deficiency
GCS1-CDG
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Growth delay due to insulin-like growth factor I resistance
Holmes-Gang syndrome
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Hypotrichosis simplex
Infantile onset spinocerebellar ataxia
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Isolated ATP synthase deficiency
Juberg-Marsidi syndrome
Kennedy disease
Leigh syndrome with cardiomyopathy
Linear nevus sebaceus syndrome
Lissencephaly due to TUBA1A mutation
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Moyamoya disease
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Partial androgen insensitivity syndrome
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Peters anomaly
Phakomatosis pigmentokeratotica
Piebaldism
Rare isolated myopia
Renal tubular dysgenesis of genetic origin
Schimke immuno-osseous dysplasia
Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Shprintzen-Goldberg syndrome
Smith-Fineman-Myers syndrome
Solitary fibrous tumor
Spinocerebellar ataxia type 18
Spondylocarpotarsal synostosis
Susceptibility to viral and mycobacterial infections
Waardenburg syndrome type 2
X-linked non-syndromic intellectual deficit
Xeroderma pigmentosum complementation group C
Kleefstra syndrome due to 9q34 microdeletion
Kleefstra syndrome due to a point mutation
Nijmegen breakage syndrome
Early-onset autosomal dominant Alzheimer disease
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Focal facial dermal dysplasia
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Romano-Ward syndrome
Zollinger-Ellison syndrome
17q21.31 microdeletion syndrome
Acute necrotizing encephalopathy of childhood
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Familial acute necrotizing encephalopathy
Inflammatory myofibroblastic tumor
Intermediate nemaline myopathy
Koolen-De Vries syndrome due to a point mutation
Severe congenital nemaline myopathy
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Typical nemaline myopathy
X-linked agammaglobulinemia
X-linked hyper-IgM syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
1 MeSH reference: D016864
Gene symbol UniProt reference OMIM reference
CHEK2 O96017604373
TP53 P04637191170
Very frequent
- Acute leukemia
- Autosomal dominant inheritance
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Breast neoplasm / tumor / carcinoma / cancer
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Colon neoplasm / tumor / carcinoma / cancer
- Cortical adrenal neoplasm / tumor / carcinoma / cancer
- Lymphoma
- Neoplasms / tumors
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Sarcoma
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma

Occasional
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Melanoma
- Oropharyngeal neoplasm / tumor / carcinoma / cancer