eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | multiple endocrine neoplasia |
| Comorbidity | C0025268|multiple endocrine neoplasia type 2a |
| Sentences | 3 |
| PubMedID- 21843357 | multiple endocrine neoplasia type 2a (men2a) or sipple syndrome is an autosomal dominant syndrome, first described by sipple [1] and later characterized in multiple kindreds by schimke [2], caused by misense mutations in the ret protooncogene [3,4], a tyrosine kinase receptor. |
| PubMedID- 22584711 | Eight of 55 (14.5%) patients with multiple endocrine neoplasia type 2a had this variant whereas it was absent in multiple endocrine neoplasia type 2b, familial medullary thyroid carcinoma, sporadic medullary thyroid carcinoma, and sporadic pheochromocytoma groups, and its prevalence in controls was 1% (p<0.002 multiple endocrine neoplasia type 2a versus controls). |
| PubMedID- 24281099 | multiple endocrine neoplasia type 2a (men 2a) was assigned to chromosome 10 by linkage analysis in 1987, when the location of the ret gene was still unknown [52]. |
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