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1 OMIM reference -
5 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
11 OMIM references -
11 associated genes
27 signs/symptoms
Multiple endocrine neoplasia type 1
Common variable immunodeficiency

CDKN1A CD19
CDKN1B CD81
CDKN2B CR2
CDKN2C ICOS
MEN1 LRBA
MS4A1
NFKB2
PRKCD
TNFRSF13B
TNFRSF13C
TNFSF12


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MEN1
(0.78)
NFKB2



Citations in the biomedical literature:


Multiple endocrine neoplasia type 1
CDKN1A CDKN1B CDKN2B CDKN2C MEN1
Common variable immunodeficiency
CD19 CD81 CR2 ICOS LRBA MS4A1
NFKB2 PRKCD TNFRSF13B TNFRSF13C TNFSF12



Multiple endocrine neoplasia type 1
Common variable immunodeficiency

Synonym(s):
- MEN 1
- Wermer syndrome

Synonym(s):
- CVID
- Idiopathic immunoglobulin deficiency
- Primary antibody deficiency
- Primary hypogammaglobulinemia

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

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

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: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D018761
External references:
11 OMIM references -
1 MeSH reference: D017074


COMMON
SIGNS
- Autosomal dominant inheritance


Multiple endocrine neoplasia type 1
Common variable immunodeficiency

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
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Chronic / relapsing otitis
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Leukopenia / hypoleukocytosis
- Lymphopenia
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Repeat respiratory infections
- Thrombocytopenia / thrombopenia

Frequent
- Abnormal hepatic enzymes / transaminases
- Autosomal recessive inheritance
- Bronchial dilation / dilatation / bronchiectasia
- Hemolytic anemia
- Lymphadenopathy / polyadenopathies
- Malabsorption / chronic diarrhea / steatorrhea
- Purpura / petichiae
- Splenomegaly
- Structural anomalies of the liver and the biliary tract

Occasional
- Articular / joint pain / arthralgia
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Emphysema
- Estomach / gastric neoplasm / tumor / carcinoma / cancer
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Gastrointestinal stromal tumor
- Interstitial / restrictive pneumopathy / restrictive respiratory syndrome
- Lymphoma
- Vascularitis / vasculitides / arteritis