ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
5 associated genes
13 signs/symptoms

Pyruvate dehydrogenase E3-binding protein deficiency

Multiple endocrine neoplasia type 1


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

Citations in the biomedical literature:

Pyruvate dehydrogenase E3-binding protein deficiency		Multiple endocrine neoplasia type 1
	Synonym(s): - 2-oxoglutarate complex deficiency - Branched chain alpha-ketoacid dehydrogenase complex deficiency - Diaphorase deficiency - Dihydrolipoyl dehydrogenase deficiency - Glycine cleavage system L protein deficiency - Lipoamide dehydrogenase deficiency - Pyruvate dehydrogenase complex component E3 deficiency - Pyruvate dehydrogenase protein X component deficiency		Synonym(s): - MEN 1 - Wermer syndrome

	Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare endocrine disease - Rare gastroenterologic disease - Rare genetic disease - Rare oncologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal recessive		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
Pyruvate dehydrogenase E3-binding protein deficiency
(no data available)