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1 OMIM reference -
5 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 3
COMMON SIGNS: 2
3 OMIM references -
2 associated genes
16 signs/symptoms
Multiple endocrine neoplasia type 1
Li-Fraumeni syndrome

CDKN1A CHEK2
CDKN1B TP53
CDKN2B
CDKN2C
MEN1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CDKN1A
CDKN2C
MEN1
(0.88)
(0.73)
(0.56)
TP53
TP53
TP53



Citations in the biomedical literature:


Multiple endocrine neoplasia type 1
CDKN1A CDKN1B CDKN2B CDKN2C MEN1
Li-Fraumeni syndrome
CHEK2 TP53



Multiple endocrine neoplasia type 1
Li-Fraumeni syndrome

Synonym(s):
- MEN 1
- Wermer syndrome

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: adult
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: D018761
External references:
3 OMIM references -
1 MeSH reference: D016864


COMMON
SIGNS
- Autosomal dominant inheritance
- Neoplasms / tumors


Multiple endocrine neoplasia type 1
Li-Fraumeni syndrome

Very frequent
- Anomalies of the endocrine glands
- Anomaly of pancreatic hormones
- Hypercalcemia
- Hyperparathyroidy
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Parathyroids anomalies
- Structural anomalies of the pancreas

Frequent
- Cortico-adrenal hyperplasia / hypersecretion
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis
- Thyroid anomalies
- Xanthomas / lipomas



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
- 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