Pheochromocytoma

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;

Details

Origin ID

171300;

UMLS CUI

C0031511;

Automatic exact mappings (from CISMeF team)
- Pheochromocytoma (morphologic abnormality) [SNOMED CT concept]
- Sporadic pheochromocytoma [ORDO Disease]
Broader ORDO disease(s)
- Catecholamine-producing tumor [ORDO Disease]
Currated CISMeF NLP mapping
- Adrenal Gland Pheochromocytoma [NCIt concept]
- Adrenal pheochromocytoma [HPO term]
- PHAEOCHROMOCYTOMA [WHO-ART Preferred Term]
- Phaeochromocytoma [MedDRA Preferred Term]
- Phaeochromocytoma [ICD-11 More detail]
- Pheochromocytoma [PASCAL descriptor]
- Pheochromocytoma [HPO term]
- Pheochromocytoma [ICD-O code]
- Pheochromocytoma [MedDRA LLT]
- Pheochromocytoma (disorder) [SNOMED CT concept]
- adrenal gland pheochromocytoma [DO Concept]
- pheochromocytoma [Disease (Nov.)]
- pheochromocytoma [Radlex concept]
- pheochromocytoma [MeSH concept]
- pheochromocytoma [MeSH Descriptor]
- pheochromocytoma [MedlinePlus Topic]
- pheochromocytoma [DO Concept]
- pheochromocytoma, nos [SNOMED Notion]
DO Cross reference
- pheochromocytoma [DO Concept]
Genes related to phenotype
- Max protein [OMIM gene]
- Ret protooncogene [OMIM gene]
- Succinate dehydrogenase complex, subunit D, integral membrane protein [OMIM gene]
- Succinate dehydrogenase complex, subunit b, iron sulfur protein [OMIM gene]
- Transmembrane protein 127 [OMIM gene]
- Von hippel-lindau tumor suppressor [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cafe-au-lait spot [HPO term]
- Cerebral hemorrhage [HPO term]
- Congestive heart failure [HPO term]
- Developmental cataract [HPO term]
- Elevated urinary norepinephrine [HPO term]
- Episodic hypertension [HPO term]
- Hemangioma [HPO term]
- Hypercalcemia [HPO term]
- Hyperhidrosis [HPO term]
- Hypertensive retinopathy [HPO term]
- Neoplasm [HPO term]
- Pheochromocytoma [HPO term]
- Positive regitine blocking test [HPO term]
- Proteinuria [HPO term]
- Renal artery stenosis [HPO term]
- Tachycardia [HPO term]
ORDO concept(s)
- Hereditary pheochromocytoma-paraganglioma [ORDO Disease]
- Sporadic pheochromocytoma [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Adrenal pheochromocytoma [HPO term]
- Chromaffinoma (disorder) [SNOMED CT concept]
- PHAEOCHROMOCYTOMA [WHO-ART Preferred Term]
- Pheochromocytoma [HPO term]
- pheochromocytoma [MedlinePlus Topic]
- pheochromocytoma [MeSH Descriptor]
- pheochromocytoma [MeSH concept]
- pheochromocytoma [Radlex concept]
- pheochromocytoma, nos [SNOMED Notion]

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