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1 OMIM reference -
5 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 1
5 OMIM references -
4 associated genes
11 signs/symptoms
Multiple endocrine neoplasia type 1
Nephroblastoma

CDKN1A DIS3L2
CDKN1B H19
CDKN2B POU6F2
CDKN2C WT1
MEN1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MEN1
MEN1
(0.63)
(0.63)
H19
WT1



Citations in the biomedical literature:


Multiple endocrine neoplasia type 1
CDKN1A CDKN1B CDKN2B CDKN2C MEN1
Nephroblastoma
DIS3L2 H19 POU6F2 WT1



Multiple endocrine neoplasia type 1
Nephroblastoma

Synonym(s):
- MEN 1
- Wermer syndrome

Synonym(s):
- Renal embryonic tumor
- Wilms tumor

Classification (Orphanet):
- Rare endocrine disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare genetic 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: 1-9 / 100 000
Average age onset: childhood
Average age of death: any age
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D018761
External references:
5 OMIM references -
1 MeSH reference: D009396


COMMON
SIGNS
- Neoplasms / tumors


Multiple endocrine neoplasia type 1
Nephroblastoma

Very frequent
- Anomalies of the endocrine glands
- Anomaly of pancreatic hormones
- Autosomal dominant inheritance
- 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 abdominal pain / colic
- Kidney / renal neoplasm / tumor / carcinoma / cancer

Occasional
- Aniridia / iris hypoplasia
- Chronic arterial hypertension
- Fever / chilling
- Hematuria / microhematuria
- Hepatic / liver neoplasm / tumor / carcinoma / cancer
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Lymphadenopathy / polyadenopathies
- Weight loss / loss of appetite / break in weight curve / general health alteration