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Distal 17p13.3 microdeletion syndrome

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Multiple endocrine neoplasia type 1

1 OMIM reference -
5 associated genes
13 signs/symptoms

Distal 17p13.3 microdeletion syndrome

Multiple endocrine neoplasia type 1

YWHAE	(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)	YWHAE	(0.81)	CDKN1B

Citations in the biomedical literature:

Distal 17p13.3 microdeletion syndrome		Multiple endocrine neoplasia type 1
	Synonym(s): - Distal del(17)(p13.3 ) - Distal monosomy 17p13.3		Synonym(s): - MEN 1 - Wermer syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare endocrine disease - Rare gastroenterologic disease - Rare genetic disease - Rare oncologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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: No OMIM references 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
Distal 17p13.3 microdeletion syndrome
(no data available)