Cowden syndrome

Also known as: PTEN hamartoma tumor syndrome

Hamartomas with thyroid, breast and endometrial cancer risk.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Endocrine oncology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, macrocephaly in childhood
Gene(s) involved: AKT1, KLLN, PIK3CA, PTEN, SDHB, SDHD

Etiology & mechanism

PTEN haploinsufficiency activates PI3K/AKT signaling.

Gene(s) involved (6)

AKT1KLLNPIK3CAPTENSDHBSDHD

Symptoms & signs (8)

autismbreast cancerendometrial cancermacrocephalymucocutaneous papillomasthyroid cancerthyroid goitertrichilemmomas

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