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PedAM

Pediatric Disease Annotations & Medicines




Disease multiple endocrine neoplasia
Phenotype |multiple endocrine neoplasia
Sentences 70
PubMedID- 26198579 We aimed to re-discuss primary hyperparathyroidism, primary hyperaldosteronism and multiple endocrine neoplasia syndromes in the light of the findings of this rare case.
PubMedID- 26347711 multiple endocrine neoplasia type 2 is described by medullary thyroid carcinomas (mtc) in association with pcc.
PubMedID- 24658317 Concurrently, 4 patients with pnets had multiple endocrine neoplasia type 1 and 2 patients had von hippel-lindau disease in association with familial syndromes.
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).
PubMedID- 25827640 A lymnaea homologue of the multiple endocrine neoplasia type 1 (men1) tumor suppressor gene that encodes for the transcription factor menin was previously shown to be required in the postsynaptic neuron for proper synapse formation35.
PubMedID- 22584697 It is dedicated to the theme of multiple endocrine neoplasias (mens) types 1 and 2, and we believe, it is especially valuable because we have collected the views of several well-known specialists in this highly specific field from 12 different countries.
PubMedID- 22837571 Bhds should be considered, along with tuberous sclerosis and multiple endocrine neoplasia type 1 in the differential diagnosis of multiple facial angiofibromas and collagenomas, particulary when the onset is in adulthood.
PubMedID- 21691539 Familial cases (most commonly associated with the multiple endocrine neoplasia 2a and 2b syndromes, neurofibromatosis and von-hippel-lindau syndrome) are bilateral half the time and malignant in 36% of patients.5 as many as 20% of newly diagnosed pheochromocytomas are in the pediatric population, in whom the disease is more commonly associated with these inherited syndromes.6–8 extra-adrenal pheochromocytomas have a higher risk of malignancy than their adrenal counterparts (36%).5 while even “benign” pheochromocytoma is fatal if undiagnosed and untreated, it is potentially curable if diagnosed.
PubMedID- 23760585 Furthermore, mutations of the trxg component multiple endocrine neoplasia type 1 (men1) are found in neuroendocrine pancreatic tumors and is mutually exclusive with daxx and atrx mutations, suggesting similar functional roles (jiao et al., 2011).
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- 24904858 Additional tests were carried out to exclude multiple endocrine neoplasia, however, all of the tests were normal: serum and urine catecholamine level and calcitonin were within normal range and abdomen ultrasonography did not show any specific findings in the pancreas and adrenal glands, nor any stone-related abnormalities in both kidneys.
PubMedID- 23843835 Men-i or multiple endocrine neoplasia – type 1, also called wermer syndrome, is a familial multiglandular endocrine tumor syndrome which can be variable in its presentation.
PubMedID- 22754549 Recently, an men1-like recessive multiple endocrine neoplasia-like syndrome was identified (named men4) in rats and humans, which is due to mutations in the cdkn1b gene, encoding for p27kip1, a cyclin-dependent kinase (cdk) inhibitor that regulates the transition of cells from g1 to s phase (pellegata et al., 2006).
PubMedID- 26191410 multiple endocrine neoplasia type 1 (men-1) is a rare autosomal-dominant disease characterized by the combined manifestations of tumors in the pancreas, parathyroid and pituitary glands.
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- 22319650 They can occur as part of multiple endocrine neoplasia type 1 (men type i) syndrome, or more often they occur in isolation.
PubMedID- 21124979 The multiple endocrine neoplasia type 1 tumor suppressor gene (men1) has been implicated in the control of apoptosis, dna repair or replication, and gene expression [1].
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- 23569534 multiple endocrine neoplasia type 1 (men1), also called wermer syndrome, is an autosomal-dominant disorder caused by a mutation in the menin gene on chromosome 11q13 [1].
PubMedID- 23961501 multiple endocrine neoplasia 2a (men 2a) is a rare autosomal dominant inherited cancer syndrome occurring in 1:200,000 live births.

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