Preferred Label : Pheochromocytoma;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Pheochromocytoma, susceptibility to;
Description : Pheochromocytomas are catecholamine-secreting tumors that usually arise within the
adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and
are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately
10% are hereditary (Maher and Eng, 2002; Dluhy, 2002). Bolande (1974) introduced the
concept and designation of the neurocristopathies, and identified 'simple,' including
pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies
and neurocristopathic syndromes, including NF1 and MEN2. Knudson and Strong (1972)
applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in 180200)
and concluded that it fits. Maher and Eng (2002) reviewed the clinical entities and
genes associated with pheochromocytoma.;
Inheritance : Autosomal dominant;
Prefixed ID : #171300;
Origin ID : 171300;
UMLS CUI : C0031511;
Automatic exact mappings (from CISMeF team)
Broader ORDO disease(s)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)