Cytoscape Web
Click node...

Li-Fraumeni syndrome
3 OMIM references -
2 associated genes
16 signs/symptoms
PROTEIN INTERACTIONS: 2
Monosomy 13q14
1 OMIM reference -
1 associated gene
31 signs/symptoms
Li-Fraumeni syndrome
Monosomy 13q14

CHEK2
(UniProt - OMIM)
 RB1
(UniProt - OMIM)
TP53
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CHEK2
TP53
(0.79)
(0.72)
RB1
RB1


Citations in the biomedical literature:


Li-Fraumeni syndrome
CHEK2 TP53
Monosomy 13q14
RB1



Li-Fraumeni syndrome
Monosomy 13q14

Synonym(s):
(no synonyms)

Synonym(s):
- Del(13)(q14)
- Deletion 13q14 syndrome
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
3 OMIM references -
1 MeSH reference: D016864
External references:
1 OMIM reference -
No MeSH references
Li-Fraumeni syndrome
Monosomy 13q14

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


Very frequent
- Broad nose / nasal bridge
- Helix thickened / sculpted
- High nasal bridge
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Microcephaly
- Short stature / dwarfism / nanism
- Total / partial trisomy / duplication

Frequent
- Abnormal dermatoglyphics
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Cataract / lens opacification
- Clinodactyly of fifth finger
- Coloboma of iris
- Congenital cardiac anomaly / malformation / cardiopathy
- Epicanthic folds
- Hypotonia
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Prominent / bat ears
- Ptosis
- Retinoblastoma
- Short hand / brachydactyly
- Short neck
- Syndactyly of fingers / interdigital palm
- Trigonocephaly

Occasional
- Anus / rectum anomalies
- Corpus callosum / septum pellucidum total / partial agenesis
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Thumb hypoplasia / aplasia / absence
- Webbed neck / pterygium colli