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Items: 11

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.

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_NCI-GLOSS]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
3.

Proteinuria

Increased levels of protein in the urine. [from HPO]

MedGen UID:
10976
Concept ID:
C0033687
Finding; Finding
4.

Acute respiratory distress

MedGen UID:
677109
Concept ID:
C0748355
Disease or Syndrome
5.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
6.

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
7.

Respiratory distress

Difficulty in breathing. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. [from HPO]

MedGen UID:
96907
Concept ID:
C0476273
Sign or Symptom
8.

Distress

A state of physiological or psychological stress that cannot be compensated for by normal adaptive measures. [from NCI]

MedGen UID:
68535
Concept ID:
C0231303
Finding
9.

Acute

Sudden appearance of disease manifestations over a short period of time. [from HPO]

MedGen UID:
61381
Concept ID:
C0205178
Temporal Concept
10.

Acute respiratory distress syndrome

A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA. [from MeSH]

MedGen UID:
20540
Concept ID:
C0035222
Disease or Syndrome
11.

Respiratory distress syndrome in the newborn

Progressive alveolar atelectasis from birth due to an abnormality of synthesis, function or metabolism of surfactant, characterized by respiratory failure and an abnormal chest radiograph showing diffuse reticulogranular densities and air bronchograms. [from NCI_NICHD]

MedGen UID:
20539
Concept ID:
C0035220
Disease or Syndrome
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