Tuberous sclerosis 2

MONDO:0013199

An autosomal dominant syndrome caused by pathogenic variants in the TSC2 gene, characterized by the growth of hamartomas in multiple organs, including the brain, skin, kidneys, heart, and lungs. Other clinical features include seizures, intellectual disability, and skin lesions.

Also known as: TSC2-related tuberous sclerosis, tuberous sclerosis 2, tuberous sclerosis type 2, tuberous sclerosis-2, TSC2, TSC2 Angiomyolipomas, renal, modifier of, tuberous sclerosis, type 2

34 clinical trials for this condition and its sub-types, 2 tagged with Tuberous sclerosis 2 itself.

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↑ Tuberous sclerosis (44)

Including sub-types (34) Tagged with Tuberous sclerosis 2 (2)

Not yet finished but already full! 1 Terminated 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Tuberous sclerosis 2

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth