Cytoscape Web
Click node...

Li-Fraumeni syndrome
3 OMIM references -
2 associated genes
16 signs/symptoms
PROTEIN INTERACTIONS: 1
Miller-Dieker syndrome
1 OMIM reference -
3 associated genes
18 signs/symptoms
Li-Fraumeni syndrome
Miller-Dieker syndrome

CHEK2
(UniProt - OMIM)
 HIC1
(UniProt - OMIM)
TP53
(UniProt - OMIM)
 PAFAH1B1
(UniProt - OMIM)
YWHAE
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TP53
(0.86)
YWHAE


Citations in the biomedical literature:


Li-Fraumeni syndrome
CHEK2 TP53
Miller-Dieker syndrome
HIC1 PAFAH1B1 YWHAE



Li-Fraumeni syndrome
Miller-Dieker syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Lissencephaly due to 17p13.3 deletion
- Monosomy 17p13.3
- Telomeric deletion 17p
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic 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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
1 MeSH reference: D016864
External references:
1 OMIM reference -
1 MeSH reference: D054221
Li-Fraumeni syndrome
Miller-Dieker syndrome

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
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Anomalies of mouth, lip and philtrum
- Anteverted nares / nostrils
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- EEG anomalies
- Epicanthic folds
- Failure to thrive / difficulties for feeding in infancy / growth delay
- High forehead
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short / small nose

Frequent
- Polyhydramnios
- Structural anomalies of the cardio-circulatory system

Occasional
- Ataxia / incoordination / trouble of the equilibrium
- Clinodactyly of fifth finger
- Corpus callosum / septum pellucidum total / partial agenesis
- Omphalocele / exomphalos
- Renal disease / nephropathy
- Sacral sinus / dimple