Hereditary paraganglioma–pheochromocytoma syndrome

Also known as: Familial paraganglioma

Inherited paragangliomas and pheochromocytomas.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Endocrine oncology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, adolescents
Gene(s) involved: EPAS1, FH, MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127

Etiology & mechanism

Succinate dehydrogenase or related defects cause pseudohypoxia.

Gene(s) involved (9)

EPAS1FHMAXSDHASDHAF2SDHBSDHCSDHDTMEM127

Symptoms & signs (6)

head and neck massheadachepalpitationsparoxysmal hypertensionpulsatile tinnitussweating

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.