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X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Multiple endocrine neoplasia type 1
1 OMIM reference -
5 associated genes
13 signs/symptoms
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Multiple endocrine neoplasia type 1

IKBKG
(UniProt - OMIM)
 CDKN1A
(UniProt - OMIM)
CDKN1B
(UniProt - OMIM)
CDKN2B
(UniProt - OMIM)
CDKN2C
(UniProt - OMIM)
MEN1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
IKBKG
(0.63)
CDKN1A


Citations in the biomedical literature:


X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
IKBKG
Multiple endocrine neoplasia type 1
CDKN1A CDKN1B CDKN2B CDKN2C MEN1



X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Multiple endocrine neoplasia type 1

Synonym(s):
- X-linked MSMD due to IKBKG deficiency
- X-linked MSMD due to NEMO deficiency
- X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency
Synonym(s):
- MEN 1
- Wermer syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare endocrine disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: adult
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D018761
Multiple endocrine neoplasia type 1

Very frequent
- Anomalies of the endocrine glands
- Anomaly of pancreatic hormones
- Autosomal dominant inheritance
- 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



X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency

(no data available)