ODCs

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Huntington disease

1 OMIM reference -
1 associated gene
8 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Li-Fraumeni syndrome

3 OMIM references -
2 associated genes
16 signs/symptoms

Huntington disease

Li-Fraumeni syndrome

HTT	(UniProt - OMIM)		CHEK2	(UniProt - OMIM)
			TP53	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HTT	(0.9)	TP53

Citations in the biomedical literature:

Huntington disease		Li-Fraumeni syndrome
	Synonym(s): - Huntington chorea		Synonym(s): (no synonyms)

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

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

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: variable Average age of death: any age Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D006816		External references: 3 OMIM references - 1 MeSH reference: D016864


COMMON SIGNS	- Autosomal dominant inheritance

Huntington disease		Li-Fraumeni syndrome
	Frequent - Abnormal cry / voice / phonation disorder / nasal speech - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - EEG anomalies - Hypertonia / spasticity / rigidity / stiffness - Movement disorder - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline		Very frequent - Acute leukemia - 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