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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease multiple endocrine neoplasia type 1
Comorbidity C0032000|pituitary adenoma
Sentences 5
PubMedID- 21613050 Many familial cases of pituitary adenomas can be attributed to mutations in men1 and prkar1a genes.
PubMedID- 23334809 The purpose of this study it was to evaluate the frequency of multiple endocrine neoplasia type 1 (men1) in patients with pituitary adenoma and to perform genetic analysis and familial screening of those individuals afflicted with men1.
PubMedID- 25350067 In this review, we describe the clinical features of patients with sporadic pituitary adenomas that are associated with aip or men1 mutations, and discuss the molecular mechanisms that might be involved in pituitary adenoma tumorigenesis.
PubMedID- 25494863 Tumor tissue analysis identified loh at the sdhb locus in three pituitary adenomas and loss of heterozygosity at the men1 locus in two pheochromocytomas.
PubMedID- 20367983 Conclusions: the mutation in exon 10 of men1 gene might induce development of parathyroid hyperplasia and pituitary adenoma and cosegregate with men1 syndrome.

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