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

CHEK2
(UniProt - OMIM)
 AR
(UniProt - OMIM)
TP53
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TP53
(0.63)
AR


Citations in the biomedical literature:


Li-Fraumeni syndrome
CHEK2 TP53
Kennedy disease
AR



Li-Fraumeni syndrome
Kennedy disease

Synonym(s):
(no synonyms)

Synonym(s):
- Bulbospinal muscular atrophy
- SBMA
- Spinal and bulbar muscular atrophy
- Spinobulbar muscular atrophy
- X-linked bulbospinal amyotrophy
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare infertility
- 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: 1-9 / 100 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: x-linked recessive
External references:
3 OMIM references -
1 MeSH reference: D016864
External references:
1 OMIM reference -
No MeSH references
Li-Fraumeni syndrome
Kennedy disease

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
- Areflexia / hyporeflexia
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Hypotonia
- Impotence / painful erection / priapism / erection troubles
- Movement disorder
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- X-linked recessive inheritance

Occasional
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Insulin-independent / type 2 diabetes
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia