normetanephrine has been researched along with Neurofibromatosis 1 in 4 studies
Normetanephrine: A methylated metabolite of norepinephrine that is excreted in the urine and found in certain tissues. It is a marker for tumors.
Neurofibromatosis 1: An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).
| Excerpt | Relevance | Reference |
|---|---|---|
| "Plasma free metanephrines are commonly used for diagnosis of pheochromocytoma and paraganglioma (PPGLs), but can also provide other information." | 7.96 | Plasma metanephrines and prospective prediction of tumor location, size and mutation type in patients with pheochromocytoma and paraganglioma. ( Bechmann, N; Beuschlein, F; Calsina, B; Constantinescu, G; Deutschbein, T; Eisenhofer, G; Fankhauser, M; Fassnacht, M; Fliedner, S; Langton, K; Lenders, JWM; Monteagudo, M; Nölting, S; Pamporaki, C; Peitzsch, M; Prejbisz, A; Robledo, M; Stell, A; Timmers, HJLM, 2020) |
| "Plasma free metanephrines are commonly used for diagnosis of pheochromocytoma and paraganglioma (PPGLs), but can also provide other information." | 3.96 | Plasma metanephrines and prospective prediction of tumor location, size and mutation type in patients with pheochromocytoma and paraganglioma. ( Bechmann, N; Beuschlein, F; Calsina, B; Constantinescu, G; Deutschbein, T; Eisenhofer, G; Fankhauser, M; Fassnacht, M; Fliedner, S; Langton, K; Lenders, JWM; Monteagudo, M; Nölting, S; Pamporaki, C; Peitzsch, M; Prejbisz, A; Robledo, M; Stell, A; Timmers, HJLM, 2020) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (25.00) | 29.6817 |
| 2010's | 2 (50.00) | 24.3611 |
| 2020's | 1 (25.00) | 2.80 |
| Authors | Studies |
|---|---|
| Eisenhofer, G | 2 |
| Deutschbein, T | 1 |
| Constantinescu, G | 1 |
| Langton, K | 1 |
| Pamporaki, C | 1 |
| Calsina, B | 1 |
| Monteagudo, M | 1 |
| Peitzsch, M | 1 |
| Fliedner, S | 1 |
| Timmers, HJLM | 1 |
| Bechmann, N | 1 |
| Fankhauser, M | 1 |
| Nölting, S | 1 |
| Beuschlein, F | 1 |
| Stell, A | 1 |
| Fassnacht, M | 1 |
| Prejbisz, A | 2 |
| Lenders, JWM | 1 |
| Robledo, M | 2 |
| Gieldon, L | 1 |
| Masjkur, JR | 1 |
| Richter, S | 1 |
| Därr, R | 1 |
| Lahera, M | 1 |
| Aust, D | 1 |
| Zeugner, S | 1 |
| Rump, A | 1 |
| Hackmann, K | 1 |
| Tzschach, A | 1 |
| Januszewicz, A | 1 |
| Schrock, E | 1 |
| Klink, B | 1 |
| Babińska, A | 1 |
| Gnacińska, A | 1 |
| Swiatkowska-Stodulska, R | 1 |
| Sworczak, K | 1 |
| Pacak, K | 1 |
4 other studies available for normetanephrine and Neurofibromatosis 1
| Article | Year |
|---|---|
Plasma metanephrines and prospective prediction of tumor location, size and mutation type in patients with pheochromocytoma and paraganglioma.
Topics: Adrenal Gland Neoplasms; Adult; Aged; Aged, 80 and over; Algorithms; Biomarkers, Tumor; Dopamine; Fe | 2020 |
Next-generation panel sequencing identifies
Topics: Adrenal Gland Neoplasms; Adult; Base Sequence; Carcinoma, Neuroendocrine; Codon, Nonsense; Epinephri | 2018 |
Myocardial infarction in a 30-year-old patient with pheochromocytoma and type 1 neurofibromatosis.
Topics: Adrenal Gland Neoplasms; Adrenalectomy; Adult; Female; Humans; Myocardial Infarction; Neurofibromato | 2008 |
Phaeochromocytoma: a catecholamine and oxidative stress disorder.
Topics: Adenosine Triphosphate; Adrenal Gland Neoplasms; Catecholamines; Humans; Metanephrine; Multiple Endo | 2011 |