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Tuberous sclerosis syndrome(TSC)

MedGen UID:
22518
Concept ID:
C0041341
Neoplastic Process
Synonyms: TSC; Tuberous sclerosis; Tuberous Sclerosis Complex
SNOMED CT: TS - Tuberous sclerosis (7199000); Tuberous sclerosis syndrome (7199000); Bourneville's disease (7199000); Adenoma sebaceum syndrome (7199000); Epiloia (7199000); Tuberous sclerosis (7199000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Related genes: TSC2, TSC1, IFNG
 
Monarch Initiative: MONDO:0001734
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, 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. [from GeneReviews]
Authors:
Hope Northrup  |  Mary Kay Koenig  |  Deborah A Pearson, et. al.   view full author information

Additional description

From OMIM
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). Genetic Heterogeneity of Tuberous Sclerosis See also tuberous sclerosis-2 (613254), which is caused by mutation in the TSC2 gene (191092) on chromosome 16p13. 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).  http://www.omim.org/entry/191100

Term Hierarchy

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

Professional guidelines

PubMed

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

External

Orphanet, Tuberous sclerosis, 2007

Recent clinical studies

Etiology

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

Diagnosis

Mellen PL, Sioufi K, Shields JA, Shields CL
Retin Cases Brief Rep 2020 Summer;14(3):211-214. doi: 10.1097/ICB.0000000000000697. PMID: 29286955
Papadopoulou A, Dinopoulos A, Koutsodontis G, Pons R, Vorgia P, Koute V, Vratimos A, Zafeiriou D
Eur J Paediatr Neurol 2018 May;22(3):419-426. Epub 2018 Feb 9 doi: 10.1016/j.ejpn.2018.01.026. PMID: 29500070
Prakash G, Sankhwar S, Jhanwar A, Singh K
BMJ Case Rep 2016 Mar 11;2016 doi: 10.1136/bcr-2016-214778. PMID: 26969365Free PMC Article
Casteels I
Bull Soc Belge Ophtalmol 2010;(314):55-6. PMID: 20480750
Pampiglione G, Pugh E
Lancet 1975 Nov 22;2(7943):1046. doi: 10.1016/s0140-6736(75)90343-8. PMID: 53537

Therapy

Pampiglione G, Moynahan EJ
J Neurol Neurosurg Psychiatry 1976 Jul;39(7):666-73. doi: 10.1136/jnnp.39.7.666. PMID: 186565Free PMC Article

Prognosis

Abdelwahed M, Touraine R, Ben-Rhouma B, Dhieb D, Mars M, Kammoun K, Hachicha J, Triki C, Kamoun H, Keskes-Ammar L, Belguith N
IUBMB Life 2019 Dec;71(12):1937-1945. Epub 2019 Jul 18 doi: 10.1002/iub.2134. PMID: 31317616

Clinical prediction guides

Abdelwahed M, Touraine R, Ben-Rhouma B, Dhieb D, Mars M, Kammoun K, Hachicha J, Triki C, Kamoun H, Keskes-Ammar L, Belguith N
IUBMB Life 2019 Dec;71(12):1937-1945. Epub 2019 Jul 18 doi: 10.1002/iub.2134. PMID: 31317616
Papadopoulou A, Dinopoulos A, Koutsodontis G, Pons R, Vorgia P, Koute V, Vratimos A, Zafeiriou D
Eur J Paediatr Neurol 2018 May;22(3):419-426. Epub 2018 Feb 9 doi: 10.1016/j.ejpn.2018.01.026. PMID: 29500070

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