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1 OMIM reference -
5 associated genes
13 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 5
COMMON SIGNS: 1
8 OMIM references -
6 associated genes
12 signs/symptoms
Multiple endocrine neoplasia type 1
Familial melanoma

CDKN1A CDK4
CDKN1B CDKN2A
CDKN2B CDKN2B
CDKN2C CDKN2D
MEN1 MC1R
TERT


COMMON
GENES
CDKN2B


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CDKN1B
CDKN1A
CDKN2B
CDKN2C
CDKN2C
(0.97)
(0.96)
(0.9)
(0.9)
(0.52)
CDK4
CDK4
CDK4
CDK4
CDKN2A



Citations in the biomedical literature:


Multiple endocrine neoplasia type 1
CDKN1A CDKN1B CDKN2B CDKN2C MEN1
Familial melanoma
CDK4 CDKN2A CDKN2D MC1R TERT



Multiple endocrine neoplasia type 1
Familial melanoma

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 eye disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin 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: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D018761
External references:
8 OMIM references -
No MeSH references


COMMON
SIGNS
- Autosomal dominant inheritance


Multiple endocrine neoplasia type 1
Familial melanoma

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

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



Very frequent
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Melanoma

Frequent
- Anomalies of the lymphatic system
- Dry / squaly skin / exfoliation
- Excessive freckling
- Hair and scalp anomalies

Occasional
- Breast neoplasm / tumor / carcinoma / cancer
- Estomach / gastric neoplasm / tumor / carcinoma / cancer
- Extrapyramidal syndrome
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Retinopathy