ODCs

Click node...

3 OMIM references -
2 associated genes
16 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
13 signs/symptoms

Li-Fraumeni syndrome

Hereditary sensory and autonomic neuropathy with spastic paraplegia

CHEK2	(UniProt - OMIM)		CCT5	(UniProt - OMIM)
TP53	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TP53	(0.87)	CCT5

Citations in the biomedical literature:

Li-Fraumeni syndrome		Hereditary sensory and autonomic neuropathy with spastic paraplegia
	Synonym(s): (no synonyms)		Synonym(s): - HSAN with spastic paraplegia

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Neoplasms -		Classification (ICD10): - Diseases of the nervous system -

	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: childhood 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		Hereditary sensory and autonomic neuropathy with spastic paraplegia
	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 - Abnormal gait - Auto-aggressivity / auto-mutilation - Autosomal recessive inheritance - Chronic skin infection / ulcerations / ulcers / cancrum - Dysautonomia / autonomous nervous sytem anomalies - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypereflexia - Hypertonia / spasticity / rigidity / stiffness - Insensitivity to pain - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Peripheral neuropathy Frequent - Nerve conduction abnormality Occasional - Osteomyelitis / osteitis / periostitis / spondylodisciitis