PedAM
Pediatric Disease Annotations & Medicines
| Disease | multiple endocrine neoplasia |
| Phenotype | C0025268|multiple endocrine neoplasia type 2 |
| Sentences | 21 |
| PubMedID- 26444007 | Mucosal neuromas are highly associated with multiple endocrine neoplasia type 2b (men-2b), which occurs in patients with germline mutation of ret genes [11]. |
| PubMedID- 22259179 | Early-onset medullary thyroid cancer is the hallmark of multiple endocrine neoplasia type 2, which is an autosomal dominant disorder due to mutations in the ret gene. |
| PubMedID- 23093970 | multiple endocrine neoplasia type 2 (men2) is a rare familial syndrome caused by mutations in the ret protooncogene. |
| PubMedID- 21540209 | For example, the multiple endocrine neoplasia type 2 (men 2), an inherited cancer syndrome characterized by medullary thyroid carcinoma (mtc) and pheochromocytoma (pc), was caused by germline mutations in the exon region, encoding one of three specific cysteine residues in the extracellular domain of the ret protein. |
| PubMedID- 24826336 | As a result, once a diagnosis of pheochromocytoma is made, it is important to rule out any evidence of hereditary syndromes like multiple endocrine neoplasia type 2, neurofibromatosis type 1, and von hippel-landau syndrome in the patient. |
| PubMedID- 25628771 | multiple endocrine neoplasia type 2 (men2) is an autosomal dominant inherited endocrine malignancy syndrome, with an occurrence of approximately 1 in 30 000; men2 is due to germline mutations in the rearranged during transfection (ret) proto-oncogene (omim: 164761) [1,2], which includes the following three subtypes: men2a (omim: 171400); familial medullary thyroid cancer (fmtc; omim: 155240); and men2b (omim: 162300) [3]. |
| 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]. |
| PubMedID- 23730622 | multiple endocrine neoplasia type 2 (men2, omim 171400), associated with pheos, medullary thyroid carcinoma, and other manifestations, is linked to gain-of-function mutations in the ret gene (mulligan et al., 1993; hofstra et al., 1994). |
| PubMedID- 22584707 | We will briefly review hirschsprung disease (hscr), multiple endocrine neoplasia type 2 (men2), and the co-segregation of these conditions in the few families that have been studied to date. |
| PubMedID- 22996645 | Recently, a drosophila model of multiple endocrine neoplasia type 2, driven by overexpression of ret kinase (dret), was used to powerfully demonstrate how in vivo screening of polypharmacological kinase inhibitors could be combined with genetic analysis to fine-tune compounds for increased chemical efficacy and reduced toxicity (dar et al., 2012). |
| PubMedID- 22584709 | multiple endocrine neoplasia type 2 (men2) is an autosomal-dominant hereditary cancer syndrome caused by missense mutations in the ret (rearranged during transfection) proto-oncogene, and these result in the gain-of-function of the encoding receptor tyrosine kinase (1). |
| PubMedID- 22145140 | Genetic analysis for familial syndromes like ret protooncogene for multiple endocrine neoplasia type 2 (men 2), vhl mutation for vhl(von hippel lindeau) and succinate dehydrogenase (sdh) mutations need to be looked for in all children with pheochromocytoma. |
| 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- 22584710 | multiple endocrine neoplasia type 2 has been a model in clinical cancer genetics, demonstrating how knowledge of the genetic basis can shape the diagnosis and treatment of the disease. |
| PubMedID- 23236420 | multiple endocrine neoplasia type 2 (men2) is composed of three clinical subtypes, multiple endocrine neoplasia type 2a (men2a), familial medullary thyroid carcinoma, and multiple endocrine neoplasia type 2b, all of which are associated with germline mutations in the ret proto-oncogene. |
| PubMedID- 22992277 | multiple endocrine neoplasia type 2 (men 2) is an autosomal dominant hereditary cancer syndrome with a prevalence of about 1 in 30,000 [1]. |
| PubMedID- 25191209 | multiple endocrine neoplasia type 2a (men 2a) or sipple's syndrome, is a hereditary familial syndrome consisting of pheocromocytoma (pheo) in 50% of cases, medullary thyroid carcinoma (mtc) in 90-100% and primary hyperparathyroidism (phpt) in 20-30%. |
| PubMedID- 20063095 | multiple endocrine neoplasia type 2 (men 2) syndrome is a rare autosomal inherited complex of endocrine tumors caused by a mutation in the rearranged during transfection (ret) proto-oncogene located on chromosome 10. |
| PubMedID- 26347711 | multiple endocrine neoplasia type 2 is described by medullary thyroid carcinomas (mtc) in association with pcc. |
| PubMedID- 23740942 | A pae has also been reported for apert, crouzon/pfeiffer, muenke, costello and noonan syndromes and multiple endocrine neoplasia type 2b, among others (reviewed in 2,3). |
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