Tuberous sclerosis complex

Also known as: Bourneville disease

Autosomal dominant hamartoma syndrome.

Medical specialty: Neurology
Subspecialty: Neurology / Neurocutaneous disorders
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: TSC1, TSC2

Etiology & mechanism

TSC1 or TSC2 mutation.

Gene(s) involved (2)

TSC1TSC2

Symptoms & signs (5)

cortical tubersinfantile spasmsrenal angiomyolipomaseizuresskin lesions

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