Details of Disease | DrugMAP

General Information of Disease (ID: DISQ1KM0)

Disease Name	Pheochromocytoma-paraganglioma
Definition	A rare neuroendocrine tumor arising from chromaffin cells of the adrenal medulla (pheochromocytoma) or from sympathetic and parasympathetic ganglia (paraganglioma). These tumors are most often benign and may produce catecholamines in excess causing hypertension and sometimes severe acute cardiovascular complications.
Disease Hierarchy	DISFK7RF: Adrenal gland neoplasm DISQ1KM0: Pheochromocytoma-paraganglioma
Disease Identifiers	MONDO ID MONDO_0035540 UMLS CUI C5681712 MedGen ID 1826130 Orphanet ID 573163

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FH	OTEQWU6Q	Strong	Autosomal dominant	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.