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Results: 1 to 20 of 66

1.

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
2.

Paraganglioma

A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation. [from HPO]

MedGen UID:
505325
Concept ID:
CN002425
Finding
3.

Error occurred: cannot get document summary

ID:
272128

4.

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
5.

Tumorigenesis

A pathologic process that involves the transformation of normal cells to a neoplastic state and resulting in polyclonal or monoclonal neoplastic cell proliferation. [from NCI]

MedGen UID:
3302
Concept ID:
C0007621
Neoplastic Process
6.

succinate

MedGen UID:
67427
Concept ID:
C0220918
Pharmacologic Substance
7.

Multiple Endocrine Neoplasia

An inherited condition that may result in the development of cancers of the endocrine system. There are several types of multiple endocrine neoplasia syndrome, and patients with each type may develop different types of cancer. The altered genes that cause each type can be detected with a blood test. [from NCI]

MedGen UID:
45036
Concept ID:
C0027662
Neoplastic Process
8.

Von Hippel-Lindau syndrome

Von Hippel-Lindau (VHL) disease is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma, pancreatic cysts and neuroendocrine tumors; endolymphatic sac tumors; and epididymal and broad ligament cysts. Cerebellar hemangioblastomas may be associated with headache, vomiting, gait disturbances, or ataxia. Spinal hemangioblastomas and related syrinx usually present with pain. Sensory and motor loss may develop with cord compression. Retinal hemangioblastomas may be the initial manifestation of VHL disease and can cause vision loss. Renal cell carcinoma occurs in about 70% of individuals with VHL and is the leading cause of mortality. Pheochromocytomas can be asymptomatic but may cause sustained or episodic hypertension. Pancreatic lesions often remain asymptomatic and rarely cause endocrine or exocrine insufficiency. Endolymphatic sac tumors can cause hearing loss of varying severity, which can be a presenting symptom. Cysts of the epididymis are relatively common. They rarely cause problems, unless bilateral, in which case they may result in infertility. [from GeneReviews]

MedGen UID:
42458
Concept ID:
C0019562
Disease or Syndrome
9.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
10.

Neurofibromatosis

MedGen UID:
833394
Concept ID:
CN229175
Finding
11.

Multiple endocrine neoplasia type 2

Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT). [from ORDO]

MedGen UID:
832339
Concept ID:
CN205457
Disease or Syndrome
12.

Neoplasm of the endocrine system

A tumor (abnormal growth of tissue) of the endocrine system. [from HPO]

MedGen UID:
506484
Concept ID:
CN117461
Finding
13.

Neurofibromas

The presence of multiple cutaneous neurofibromas. [from HPO]

MedGen UID:
504707
Concept ID:
CN001002
Finding
14.

Mode of inheritance

The pattern in which a particular genetic trait or disorder is passed from one generation to the next. [from HPO]

MedGen UID:
504300
Concept ID:
CN000006
Finding
15.

Von Hippel-Lindau

MedGen UID:
490007
Concept ID:
CN169367
Disease or Syndrome
16.

Neurofibromatosis-Noonan syndrome

MedGen UID:
419089
Concept ID:
C2931482
Disease or Syndrome
17.

Mitochondrial inheritance

The distribution of mitochondria, including the mitochondrial genome, into daughter cells after mitosis or meiosis, mediated by interactions between mitochondria and the cytoskeleton. [GOC:mcc, PMID:10873824, PMID:11389764] [from GO]

MedGen UID:
165802
Concept ID:
C0887941
18.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI]

MedGen UID:
141047
Concept ID:
C0443147
19.

Genetic predisposition

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. [from MeSH]

MedGen UID:
137259
Concept ID:
C0314657
20.

Sporadic

MedGen UID:
64410
Concept ID:
C0205422

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