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1.

Pheochromocytoma

Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues symmetrically distributed along the paravertebral axis from the base of the skull to the pelvis) and by pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas hypersecrete catecholamines; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base, neck, and upper medistinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically hypersecrete catecholamines. Symptoms of PGL/PCC result either from mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for malignant transformation is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas or skull base and neck paragangliomas. [from GeneReviews]

MedGen UID:
18419
Concept ID:
C0031511
Neoplastic Process
2.

Serine

A non-essential amino acid in humans (synthesized by the body), Serine is present and functionally important in many proteins. With an alcohol group, serine is needed for the metabolism of fats, fatty acids, and cell membranes; muscle growth; and a healthy immune system. It also plays a major role in pyrimidine, purine, creatine, and porphyrin biosynthetic pathways. Serine is also found at the active site of the serine protease enzyme class that includes trypsin and chymotrypsin. (NCI04) [from NCI]

MedGen UID:
11382
Concept ID:
C0036720
Pharmacologic Substance
3.

Phosphorylation

A process in which a phosphate group is added to a molecule, such as a sugar or a protein. [from NCI]

MedGen UID:
10742
Concept ID:
C0031715
Molecular Function
4.

Pheochromocytoma

Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines. [from HPO]

MedGen UID:
505323
Concept ID:
CN002423
Finding
5.

Neuronal Differentiation

MedGen UID:
273576
Concept ID:
C1518294
Finding
6.

Growth substance

Signal molecules that are involved in the control of cell growth and differentiation. [from MeSH]

MedGen UID:
315661
Concept ID:
C1812630
Pharmacologic Substance
7.

Peptide Biosynthesis

The chemical reactions and pathways resulting in the formation of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. This may include the translation of a precursor protein and its subsequent processing into a functional peptide. [CHEBI:16670, GOC:dph, GOC:jl] [from GO]

MedGen UID:
272130
Concept ID:
C1327133
Molecular Function
8.

Extra-Adrenal Sympathetic Paraganglioma

A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas. [from NCI]

MedGen UID:
263453
Concept ID:
C1257877
Neoplastic Process
9.

Protein Modification, Translational

Any of the enzymatically catalyzed modifications of the individual AMINO ACIDS of PROTEINS, and enzymatic cleavage or crosslinking of peptide chains that occur pre-translationally (on the amino acid component of AMINO ACYL TRNA), co-translationally (during the process of GENETIC TRANSLATION), or after translation is completed (POST-TRANSLATIONAL PROTEIN PROCESSING). [from MeSH]

MedGen UID:
260537
Concept ID:
C1449566
Molecular Function
10.

Cancer, Embryonal

MedGen UID:
199639
Concept ID:
C0751364
Neoplastic Process
11.

Genetic translation

ribosome mediated process by which polypeptide chains are synthesized, the aminoacid sequence being completely determined by the sequence of bases in a messenger RNA, which in turn is determined by the sequences of bases in the DNA of the gene from which it was transcribed. [from CRISP]

MedGen UID:
108933
Concept ID:
C0597295
Molecular Function
12.

Carbohydrate Metabolism

Cellular processes in biosynthesis (anabolism) and degradation (catabolism) of CARBOHYDRATES. [from MeSH]

MedGen UID:
86224
Concept ID:
C0302820
Molecular Function
13.

Neuroendocrine neoplasm

Tumors whose cells possess secretory granules and originate from the neuroectoderm, i.e., the cells of the ectoblast or epiblast that program the neuroendocrine system. Common properties across most neuroendocrine tumors include ectopic hormone production (often via APUD CELLS), the presence of tumor-associated antigens, and isozyme composition. [from MeSH]

MedGen UID:
64652
Concept ID:
C0206754
Neoplastic Process
14.

Neuroectodermal neoplasm

A tumor of the central or peripheral nervous system. [from NCI]

MedGen UID:
60072
Concept ID:
C0206093
Neoplastic Process
15.

Protein Processing, Post-Translational

Any of various enzymatically catalyzed post-translational modifications of PEPTIDES or PROTEINS in the cell of origin. These modifications include carboxylation; HYDROXYLATION; ACETYLATION; PHOSPHORYLATION; METHYLATION; GLYCOSYLATION; ubiquitination; oxidation; proteolysis; and crosslinking and result in changes in molecular weight and electrophoretic motility. [from MeSH]

MedGen UID:
46159
Concept ID:
C0033666
Molecular Function
16.

Embryonal Neoplasm

new abnormal embryonic tissue that grows by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease. [from CRISP]

MedGen UID:
45034
Concept ID:
C0027654
Neoplastic Process
17.

Neuroepithelioma

MedGen UID:
14348
Concept ID:
C0027828
Neoplastic Process
18.

Nervous tissue neoplasm

Neoplasms composed of nerve tissue. This concept does not refer to neoplasms located in the nervous system or its component nerves. [from MeSH]

MedGen UID:
14324
Concept ID:
C0027665
Neoplastic Process
19.

Paraganglioma

A rare, usually benign tumor that develops from cells of the paraganglia. Paraganglia are a collection of cells that came from embryonic nervous tissue, and are found near the adrenal glands and some blood vessels and nerves. Paragangliomas that develop in the adrenal gland are called pheochromocytomas. Those that develop outside of the adrenal glands near blood vessels or nerves are called glomus tumors or chemodectomas. [from NCI]

MedGen UID:
10571
Concept ID:
C0030421
Neoplastic Process
20.

Neoplasms, Germ Cell and Embryonal

Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS. [from MeSH]

MedGen UID:
10215
Concept ID:
C0027658
Neoplastic Process

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