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Tuberous sclerosis syndrome(TSC)

MedGen UID:
Concept ID:
Neoplastic Process
Synonyms: TSC; Tuberous sclerosis; Tuberous Sclerosis Complex
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: TS - Tuberous sclerosis (7199000); Tuberous sclerosis syndrome (7199000); Bourneville's disease (7199000); Adenoma sebaceum syndrome (7199000); Epiloia (7199000); Tuberous sclerosis (7199000)
Related genes: TSC2, TSC1, IFNG
OMIM®: 191100
OMIM® Phenotypic series: PS191100
Orphanet: ORPHA805

Disease characteristics

Excerpted from the GeneReview: Tuberous Sclerosis Complex
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, facial angiofibromas, shagreen patches, cephalic plaques, ungual fibromas); brain (cortical dysplasias, subependymal nodules 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]). CNS tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death. [from GeneReviews]
Hope Northrup  |  Mary Kay Koenig  |  Deborah A Pearson, et. al.   view full author information

Additional descriptions

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).
From GHR
Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. These tumors can occur in the skin, brain, kidneys, and other organs, in some cases leading to significant health problems. Tuberous sclerosis complex also causes developmental problems, and the signs and symptoms of the condition vary from person to person.Virtually all affected people have skin abnormalities, including patches of unusually light-colored skin, areas of raised and thickened skin, and growths under the nails. Tumors on the face called facial angiofibromas are also common beginning in childhood.Tuberous sclerosis complex often affects the brain, causing seizures, behavioral problems such as hyperactivity and aggression, and intellectual disability or learning problems. Some affected children have the characteristic features of autism, a developmental disorder that affects communication and social interaction. Benign brain tumors can also develop in people with tuberous sclerosis complex; these tumors can cause serious or life-threatening complications.Kidney tumors are common in people with tuberous sclerosis complex; these growths can cause severe problems with kidney function and may be life-threatening in some cases. Additionally, tumors can develop in the heart, lungs, and the light-sensitive tissue at the back of the eye (the retina).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Tuberous sclerosis syndrome in Orphanet.

Professional guidelines


Schaefer GB, Mendelsohn NJ; Professional Practice and Guidelines Committee.
Genet Med 2013 May;15(5):399-407. Epub 2013 Mar 21 doi: 10.1038/gim.2013.32. PMID: 23519317


Orphanet, Tuberous sclerosis, 2007

Recent clinical studies


Gao X, Zhang Y, Arrazola P, Hino O, Kobayashi T, Yeung RS, Ru B, Pan D
Nat Cell Biol 2002 Sep;4(9):699-704. doi: 10.1038/ncb847. PMID: 12172555


Prakash G, Sankhwar S, Jhanwar A, Singh K
BMJ Case Rep 2016 Mar 11;2016 doi: 10.1136/bcr-2016-214778. PMID: 26969365
Oliva E
Mod Pathol 2016 Jan;29 Suppl 1:S104-20. doi: 10.1038/modpathol.2015.139. PMID: 26715170
Casteels I
Bull Soc Belge Ophtalmol 2010;(314):55-6. PMID: 20480750
Popper HH, Juettner-Smolle FM, Pongratz MG
Histopathology 1991 Apr;18(4):347-54. PMID: 2071093
Pampiglione G, Pugh E
Lancet 1975 Nov 22;2(7943):1046. PMID: 53537


Pampiglione G, Moynahan EJ
J Neurol Neurosurg Psychiatry 1976 Jul;39(7):666-73. PMID: 186565Free PMC Article

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