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Li-Fraumeni syndrome
3 OMIM references -
2 associated genes
16 signs/symptoms
PROTEIN INTERACTIONS: 1
Desmosterolosis
1 OMIM reference -
1 associated gene
38 signs/symptoms
Li-Fraumeni syndrome
Desmosterolosis

CHEK2
(UniProt - OMIM)
 DHCR24
(UniProt - OMIM)
TP53
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TP53
(0.65)
DHCR24


Citations in the biomedical literature:


Li-Fraumeni syndrome
CHEK2 TP53
Desmosterolosis
DHCR24



Li-Fraumeni syndrome
Desmosterolosis

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare bone disease
- Rare developmental defect during embryogenesis
- 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:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
3 OMIM references -
1 MeSH reference: D016864
External references:
1 OMIM reference -
No MeSH references
Li-Fraumeni syndrome
Desmosterolosis

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
- Autosomal recessive inheritance
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Corpus callosum / septum pellucidum total / partial agenesis
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Short stature / dwarfism / nanism

Frequent
- Depressed nasal bridge
- Dilated cerebral ventricles without hydrocephaly
- Low set ears / posteriorly rotated ears
- Microstomia / little mouth
- Nasal atrophy / hypoplasia / arhinia / rudimentary nose
- Nystagmus
- Rib structure anomalies
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint
- Thick / wide ear lobe

Occasional
- Agenesis / hypoplasia / aplasia of kidneys
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Ambiguous genitalia
- Anomalies of tongue, gingiva and oral mucosa
- Anomalous pulmonary venous return
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Epicanthic folds
- Frontal bossing / prominent forehead
- Hydrocephaly
- Intestinal / gut / bowel malrotation
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Osteosclerosis / osteopetrosis / bone condensation
- Patent ductus arteriosus
- Rhizomelic micromelia
- Skin hypoplasia / aplasia / atrophy
- Splenomegaly
- Stillbirth / neonatal death
- Talipes-varus / metatarsal varus