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GTR Home > Conditions/Phenotypes > Tuberous sclerosis 2

Tuberous sclerosis 2

Summary

Excerpted from the GeneReview: Tuberous Sclerosis Complex
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Hope Northrup
Mary Kay Koenig
Deborah A Pearson
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Available tests

171 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (171 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: IFG, IFI, IMD69, IFNG
    Summary: interferon gamma

  • Also known as: LAM, PPP1R160, TSC4, TSC2
    Summary: TSC complex subunit 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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