Hereditary pheochromocytoma-paraganglioma

rare

Neoplasm predisposition characterized by an increased risk of paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla).

Identifiers: MONDO:0017366 Orphanet:29072
Part of: Hereditary neoplastic syndrome Neuroendocrine neoplasm
Also known as: familial pheochromocytoma-paraganglioma · hereditary paraganglioma-pheochromocytoma · hereditary paraganglioma-pheochromocytoma syndrome · SDHx-related paraganglioma-pheochromocytoma

Subtypes

All diseases Rare only

Disease	ID	Genes
MAX-related tumor predisposition	MONDO:0700346	MAX
TMEM127-related tumor predisposition	MONDO:0700345	TMEM127
Pheochromocytoma/paraganglioma syndrome 1	MONDO:0008192	SDHD
Pheochromocytoma/paraganglioma syndrome 2	MONDO:0011121	SDHAF2
Pheochromocytoma/paraganglioma syndrome 3	MONDO:0011544	SDHC
Pheochromocytoma/paraganglioma syndrome 4	MONDO:0007273	SDHB
Pheochromocytoma/paraganglioma syndrome 5	MONDO:0013602	SDHA
Pheochromocytoma/paraganglioma syndrome 6	MONDO:0032767	SLC25A11
Pheochromocytoma/paraganglioma syndrome 7	MONDO:0032771	DLST

Projects

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