MCID: TBR022
MIFTS: 53

Tuberous Sclerosis Complex malady

Summaries for Tuberous Sclerosis Complex

Sources:
21Genetics Home Reference, 19GeneReviews, 33MalaCards
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Genetics Home Reference:21 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.

MalaCards: Tuberous Sclerosis Complex, also known as bourneville disease, is related to tuberous sclerosis and astrocytoma. An important gene associated with Tuberous Sclerosis Complex is TSC2 (tuberous sclerosis 2), and among its related pathways are Inhibition of TSC complex formation by PKB and Glioblastoma Multiforme. The compounds everolimus and estrogen have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and smooth muscle, and related mouse phenotypes are tumorigenesis and homeostasis/metabolism.

GeneReviews summary for tuberous-sclerosis

Aliases & Classifications for Tuberous Sclerosis Complex

Sources:
19GeneReviews, 20GeneTests, 21Genetics Home Reference, 61UMLS
See all sources

Aliases & Descriptions:

tuberous sclerosis complex 19 20 21
bourneville disease 19 21
bourneville phakomatosis 21
sclerosis tuberosa 21
cerebral sclerosis 21
tuberous sclerosis 61
tuberose sclerosis 21
epiloia 21


Related Diseases for Tuberous Sclerosis Complex

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Tuberous Sclerosis Complex via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 201)
idRelated DiseaseScoreTop Affiliating Genes
1tuberous sclerosis32.3RHEB, TSC2, TSC1, EIF4EBP1, MTOR, STK11
2astrocytoma31.4STK11, TSC1, TSC2
3lymphangioleiomyomatosis31.3TSC1, TSC2
4angiomyolipoma31.3TSC2, CCL26, MTOR, RHEB, TSC1
5subependymal giant cell astrocytoma31.3TSC2, TSC1, MTOR
6mental retardation30.6CCL26, TSC1, MTOR, TSC2, NTF4
7polycystic kidney disease30.5MTOR, TSC2
8ganglioglioma30.3TSC1, PVALB, TSC2
9autosomal dominant disease30.3STK11
10polycystic kidney disease, autosomal dominant30.3TSC1, TSC2, MTOR
11peutz-jeghers syndrome30.2TSC1, STK11, MTOR, TSC2
12autistic disorder30.2TSC2, TSC1, NTF4
13adenocarcinoma30.2TSC2, RPS6KB1, TSC1, EREG, CCL26, EIF4EBP1
14renal clear cell carcinoma30.2PVALB, MTOR
15perivascular epithelioid cell tumor30.0TSC2, RHEB
16bladder carcinoma30.0EREG, CCL26, TSC1, S100A7, RALA
17neurofibromatosis10.5
18polycystic kidneys, severe infantile with tuberous sclerosis10.5
19hemimegalencephaly10.5
20hepatic angiomyolipoma10.4
21intracranial aneurysm10.4
22sleep disorder10.4
23cutaneous sclerosis10.4
24tuberous sclerosis, type 210.4
25gigantism10.3
26autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis10.3
27lateral sclerosis10.3
28n syndrome10.3
29autism spectrum disorder10.3
30arachnoid cysts10.3
31weber syndrome10.3
32atypical autism10.2
33lennox-gastaut syndrome10.2
34spina bifida10.2
35ventricular septal defect10.2
36spina bifida occulta10.2
37spontaneous pneumothorax10.2
38metachromatic leukodystrophy10.2
39adrenoleukodystrophy10.2
40attention deficit hyperactivity disorder10.2
41rett syndrome10.2
42klippel-trenaunay syndrome10.2
43wolff-parkinson-white syndrome10.2
44hepatitis c10.2
45papillary carcinoma10.2
46pulmonary edema10.2
47hepatitis e10.2
48carpal tunnel syndrome10.2
49west syndrome10.2
50barrett's adenocarcinoma10.2

Graphical network of the top 20 diseases related to Tuberous Sclerosis Complex:



Diseases related to tuberous sclerosis complex

Clinical Features for Tuberous Sclerosis Complex

Drugs & Therapeutics for Tuberous Sclerosis Complex

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Tuberous Sclerosis Complex

Drug clinical trials:

Search ClinicalTrials for Tuberous Sclerosis Complex

Search NIH Clinical Center for Tuberous Sclerosis Complex

Search CenterWatch for Tuberous Sclerosis Complex

Genetic Tests for Tuberous Sclerosis Complex

Sources:
20GeneTests
See all sources

Genetic tests related to Tuberous Sclerosis Complex:

id Genetic test Affiliating Genes
1 Tuberous Sclerosis Complex20 TSC2

Anatomical Context for Tuberous Sclerosis Complex

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Tuberous Sclerosis Complex:

33
Brain, Cortex, Smooth muscle, Adipocyte, Kidney, Liver, Lung, Skin, Prostate, T cells, B cells, Endothelial, Fetal brain, Caudate nucleus, Fetal liver, Fetal lung

Animal Models for Tuberous Sclerosis Complex or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Tuberous Sclerosis Complex

Sources:
51PubMed
See all sources

Articles related to Tuberous Sclerosis Complex:

(show top 50)    (show all 626)
idTitleAuthorsYear
1
The ability of high field strength 7-T magnetic resonance imaging to reveal previously uncharacterized brain lesions in patients with tuberous sclerosis complex. (23289918)
2013
2
Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. (24053983)
2013
3
Hemispherectomy: When half is better than the whole. Tuberous sclerosis complex. (23599955)
2013
4
Reduced juvenile long-term depression in tuberous sclerosis complex is mitigated in adults by compensatory recruitment of mGluR5 and Erk signaling. (23966835)
2013
5
Trends in the prevalence of tuberous sclerosis complex manifestations: an epidemiological study of 166 Japanese patients. (23691114)
2013
6
Subependymal nodules and giant cell tumours in tuberous sclerosis complex patients: prevalence on MRI in relation to gene mutation. (22936080)
2013
7
Enhanced expression of glucose transporter-1 in vascular smooth muscle cells via the Akt/tuberous sclerosis complex subunit 2 (TSC2)/mammalian target of rapamycin (mTOR)/ribosomal S6 protein kinase (S6K) pathway in experimental renal failure. (23265586)
2013
8
Cardiac fat-containing lesions are common in tuberous sclerosis complex. (23703751)
2013
9
Wide spectrum of clinical manifestations in children with tuberous sclerosis complex - Follow-up of 20 children. (23751858)
2013
10
Expression of bone morphogenetic protein-4 in the cortical lesions of focal cortical dysplasia IIb and the tuberous sclerosis complex. (22752548)
2013
11
Statins in lymphangioleiomyomatosis. Simvastatin and atorvastatin induce differential effects on tuberous sclerosis complex 2-null cell growth and signaling. (23947572)
2013
12
Assisting a child with tuberous sclerosis complex (TSC): a qualitative deep analysis of parents' experience and caring needs. (24319280)
2013
13
Intraventricular lesions in tuberous sclerosis complex: a possible association with the caudate nucleus. (22462706)
2012
14
Genotype and cognitive phenotype of patients with tuberous sclerosis complex. (22189265)
2012
15
Coil embolization of an intracranial aneurysm in an infant with tuberous sclerosis complex: A case report and literature review. (23227434)
2012
16
Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex. (22025691)
2011
17
An unusual case of congenital melanocytic nevus presenting as neurocutaneous melanoma coexisting with Tuberous Sclerosis complex: A case report. (21722368)
2011
18
Renal angiomyolipoma with cardiac extension in patient with tuberous sclerosis complex. (22144635)
2011
19
Tuberous sclerosis complex: diagnostic challenges, presenting symptoms, and commonly missed signs. (21173003)
2011
20
Progressive calcified tuber in a young male with tuberous sclerosis complex. (21175459)
2010
21
Sirolimus in renal transplant recipients with tuberous sclerosis complex: clinical effectiveness and implications for innate immunity. (20070623)
2010
22
Biallelic TSC gene inactivation in tuberous sclerosis complex. (20498439)
2010
23
The serine protease HtrA1 specifically interacts and degrades the tuberous sclerosis complex 2 protein. (20671064)
2010
24
Optic nerve tumor in tuberous sclerosis complex is not responsive to sirolimus. (20472200)
2010
25
Acral lesions in tuberous sclerosis complex: insights into pathogenesis. (20462663)
2010
26
TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex. (19419980)
2009
27
Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse. (19150975)
2009
28
Rapamycin as a therapy of choice after renal transplantation in a patient with tuberous sclerosis complex. (19917366)
2009
29
Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner. (19420259)
2009
30
Rare association of Turner syndrome with neurofibromatosis type 1 and tuberous sclerosis complex. (20680156)
2009
31
Abnormal parieto-motor connectivity in Tuberous Sclerosis Complex. (19713078)
2009
32
Magnetic resonance imaging of renal involvement in genetically studied patients with tuberous sclerosis complex. (18835118)
2009
33
Mechanisms of epileptogenesis in tuberous sclerosis complex and related malformations of cortical development with abnormal glioneuronal proliferation. (17727667)
2008
34
A novel mutation (insTCCG) in the TSC2 gene in a Chinese patient with tuberous sclerosis complex. (17888633)
2008
35
Loss of the tuberous sclerosis complex tumor suppressors triggers the unfolded protein response to regulate insulin signaling and apoptosis. (18342602)
2008
36
Tuberous sclerosis complex: a case report. (18782197)
2008
37
Tuberous sclerosis complex complicated with extraventricular cystic giant cell astrocytoma: case report. (17531134)
2007
38
Expression and prognostic value of tuberous sclerosis complex 2 gene product tuberin in human pancreatic cancer. (16213898)
2005
39
Intractable seizures in tuberous sclerosis complex: from molecular pathogenesis to the rationale for treatment. (15921233)
2005
40
Acute respiratory failure with gross hemoptysis in a patient with lymphangioleiomyomatosis as part of tuberous sclerosis complex. (15468981)
2004
41
Tumor-promoting phorbol esters and activated Ras inactivate the tuberous sclerosis tumor suppressor complex via p90 ribosomal S6 kinase. (15342917)
2004
42
Critical role of T-loop and H-motif phosphorylation in the regulation of S6 kinase 1 by the tuberous sclerosis complex. (14993219)
2004
43
14-3-3beta binds to and negatively regulates the tuberous sclerosis complex 2 (TSC2) tumor suppressor gene product, tuberin. (12468542)
2003
44
Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex. (12015165)
2002
45
Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions. (11468687)
2001
46
From gene to disease; TSC1 and TSC2 genes and tuberous sclerosis complex]. (11675974)
2001
47
Differential cellular expression of neurotrophins in cortical tubers of the tuberous sclerosis complex. (11583980)
2001
48
Inactivation of the cyclin-dependent kinase inhibitor p27 upon loss of the tuberous sclerosis complex gene-2. (9861025)
1998
49
Malignant tumors of the kidney, brain, and soft tissues in children and young adults with the tuberous sclerosis complex. (9827727)
1998
50
Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic significance. (9888331)
1998

Genetic Variations for Tuberous Sclerosis Complex

Expression for genes affiliated with Tuberous Sclerosis Complex

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Tuberous Sclerosis Complex

Search GEO for disease gene expression data for Tuberous Sclerosis Complex.

Pathways for genes affiliated with Tuberous Sclerosis Complex

Sources:
54Reactome, 52QIAGEN, 38NCBI BioSystems Database, 12EMD Millipore, 30KEGG, 60Tocris Bioscience, 50PharmGKB, 4Cell Signaling Technology, 53R&D Systems
See all sources

Pathways related to Tuberous Sclerosis Complex according to GeneCards/GeneDecks:

(show all 43)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4TSC1, TSC2
210.4TSC1, TSC2, RPS6KB1
310.4MTOR, CCL26, RPS6KB1
4
Hide members
10.4RPS6KB1, MTOR, RHEB
510.3MTOR, RPS6KA1, RPS6KB1
610.3RPS6KB1, MTOR, EIF4EBP1
710.3MTOR, DUSP6, RALA
8
Hide members
10.3RPS6KA1, RHEB, MTOR
910.3TSC1, MTOR, STK11, TSC2
10
Hide members
10.3RPS6KA1, EIF4EBP1, RPS6KB1
11
Hide members
10.3EIF4EBP1, RPS6KA1, RPS6KB1
12
Development Endothelin-1/EDNRA signaling
Hide members
10.3MTOR, RHEB, TSC2, RPS6KB1
13
Transcription Androgen Receptor nuclear signaling
Hide members
10.3TSC2, MTOR, EIF4EBP1, RPS6KB1
14
Development Prolactin receptor signaling
Hide members
10.3SLC2A2, EIF4EBP1, MTOR, RPS6KB1
15
Hide members
10.3RPS6KB1, MTOR, RHEB, EIF4EBP1
16
Hide members
10.3TSC2, EREG, MTOR, PSMC4
17
Hide members
10.3RPS6KB1, EIF4EBP1, EREG, MTOR
18
Hide members
10.3STK11, PPP1R15A, RPS6KA1, RHEB
1910.3EIF4EBP1, RPS6KB1, STK11, TSC2, TSC1
20
Hide members
10.3RPS6KB1, PPP1R15A, EIF4EBP1, PSMC4
2110.3TSC2, TSC1, EIF4EBP1, RHEB, MTOR
22
Translation Translation regulation by Alpha-1 adrenergic receptors
Hide members
10.3RPS6KB1, EIF4EBP1, MTOR, RHEB, TSC2
23
Hide members
10.3TSC2, RPS6KB1, MTOR, RHEB, EIF4EBP1
2410.3EIF4EBP1, MTOR, RPS6KB1, TSC2, RHEB
25
Hide members
10.3RPS6KB1, TSC2, PSMC4, TSC1, RPS6KA1
2610.3TSC2, RPS6KA1, MTOR, EIF4EBP1, RPS6KB1
27
Hide members
10.2RPS6KA1, EIF4EBP1, NTF4, MTOR, FLCN
2810.2TSC1, EIF4EBP1, MTOR, FLCN, RPS6KB1, TSC2
2910.2RPS6KB1, STK11, MTOR, TSC1, TSC2, EIF4EBP1
3010.2RHEB, RPS6KB1, MTOR, EIF4EBP1, TSC1, TSC2
31
Hide members
10.2TSC1, EIF4EBP1, RPS6KB1, TSC2, CCL26, RALA
3210.2STK11, MTOR, RHEB, RALA, TSC1, TSC2
33
Hide members
10.2MTOR, EREG, TSC2, RALA, DUSP6, RPS6KA1
34
Hide members
10.2EIF4EBP1, RPS6KA1, CCL26, RPS6KB1, DUSP6, PSMC4
35
Hide members
10.2TSC2, TSC1, EIF4EBP1, RHEB, STK11, RPS6KB1
3610.2RHEB, MTOR, RPS6KB1, STK11, TSC2, TSC1
37
Hide members
10.2TSC2, TSC1, EIF4EBP1, RHEB, MTOR, STK11
38
Hide members
10.2RPS6KB1, RPS6KA1, MTOR, RHEB, EIF4EBP1, TSC1
3910.2TSC2, TSC1, EIF4EBP1, MTOR, RHEB, RPS6KA1
4010.2TSC1, EIF4EBP1, RHEB, MTOR, RPS6KA1, TSC2
41
Translation Insulin regulation of translation
Hide members
10.1TSC1, RPS6KB1, RPS6KA1, STK11, MTOR, RHEB
42
Hide members
10.1STK11, TSC1, RALA, RPS6KA1, CCL26, TSC2
43
Hide members
9.9EIF4EBP1, TSC2, TSC1, EREG, RALA, RHEB

Compounds for genes affiliated with Tuberous Sclerosis Complex

Sources:
50PharmGKB, 45Novoseek, 11DrugBank, 24HMDB, 60Tocris Bioscience, 29IUPHAR
See all sources

Compounds related to Tuberous Sclerosis Complex according to GeneCards/GeneDecks:

(show all 38)
idCompoundScoreTop Affiliating Genes
1everolimus50 45 1112.7EIF4EBP1, MTOR, RPS6KB1
2estrogen4510.7S100A7, PVALB
3quinolinic acid45 2411.7PVALB, CALB1, NTF4
4aicar45 11 2412.7RPS6KB1, STK11, MTOR
5brd 73896010.7RPS6KB1, RPS6KA1
6pf 47086716010.6RPS6KB1, RPS6KA1
7anisomycin45 1111.6RPS6KB1, PSMC4, MTOR, EIF4EBP1
8sl 0101-16010.6RPS6KB1, RPS6KA1
9okadaic acid45 6011.6RPS6KB1, PPP1R15A, MTOR, EIF4EBP1, TSC2
10pd 98,0594510.6RPS6KB1, RPS6KA1, MTOR, DUSP6, EIF4EBP1, TSC1
11paraffin4510.6TSC2, TSC1, SLC2A2, STK11, PVALB
12wortmannin4510.6TSC2, EIF4EBP1, MTOR, PSMC4, RPS6KB1
13ly2940024510.6RPS6KB1, RPS6KA1, PSMC4, MTOR, EIF4EBP1, TSC2
14leucine4510.6TSC2, SLC2A2, EIF4EBP1, MTOR, PSMC4, RPS6KB1
15forskolin45 50 1112.5RPS6KB1, CALB1, NTF4, SLC2A2, EREG
162-deoxyglucose45 1111.5SLC2A2, STK11, RPS6KB1
17phosphoinositide4510.5RPS6KB1, RPS6KA1, PSMC4, MTOR, RHEB, EIF4EBP1
18vegf4510.5RPS6KB1, PSMC4, PPP1R15A, STK11, MTOR, EIF4EBP1
19phenylephrine45 29 11 2413.5RPS6KB1, DUSP6, EIF4EBP1
20glycogen45 2411.5RPS6KB1, RPS6KA1, PSMC4, STK11, MTOR, EIF4EBP1
21farnesylthiosalicylic acid45 2911.5EIF4EBP1, MTOR
22retinoic acid45 2411.5RPS6KB1, RPS6KA1, CALB1, S100A7, MTOR, NTF4
23cisplatin45 50 60 1113.5RPS6KB1, PPP1R15A, MTOR, NTF4, EIF4EBP1
24threonine4510.5RPS6KB1, RPS6KA1, PSMC4, PPP1R15A, STK11, MTOR
25phosphatidylinositol4510.5RPS6KB1, RPS6KA1, PSMC4, MTOR, NTF4, EIF4EBP1
26glucose4510.4STK11, PSMC4, CALB1, RPS6KB1, MTOR, RHEB
27oxygen45 2411.4RPS6KB1, CCL26, S100A7, PSMC4, STK11, MTOR
28rapamycin4510.4TSC2, RPS6KB1, RPS6KA1, CCL26, PSMC4, STK11
29nitric oxide45 11 2412.4RPS6KB1, PVALB, CALB1, PSMC4, DUSP6, EIF4EBP1
30butanol4510.4EIF4EBP1, RPS6KB1
31atp45 2911.4RPS6KB1, RPS6KA1, PVALB, CCL26, CALB1, PSMC4
32calcium45 50 11 2413.4RPS6KB1, PVALB, CCL26, CALB1, S100A7, PSMC4
3312-o-tetradecanoylphorbol 13-acetate4510.3RPS6KB1, PSMC4, MTOR, EIF4EBP1
34serine4510.3PPP1R15A, PSMC4, PVALB, RPS6KA1, RPS6KB1, STK11
35acetylcholine45 50 29 11 2414.3NTF4, CALB1, PVALB, RPS6KB1
36tyrosine4510.3PSMC4, CALB1, PVALB, RPS6KA1, RPS6KB1, MTOR
37ethanol45 50 11 2413.2RPS6KB1, PVALB, NTF4, EIF4EBP1
38acadesine4510.1STK11, RPS6KB1

GO Terms for genes affiliated with Tuberous Sclerosis Complex

Sources:
16Gene Ontology
See all sources

Cellular components related to Tuberous Sclerosis Complex according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1membraneGO:01602010.2SLC2A2, RHEB, MTOR, STK11, TSC2, TSC1
2TSC1-TSC2 complexGO:03359610.1TSC2, TSC1
3cytosolGO:0058299.9RHEB, TSC1, EIF4EBP1, DUSP6, MTOR, STK11
4cytoplasmGO:0057379.8TSC2, RPS6KB1, TSC1, SLC2A2, EIF4EBP1, DUSP6

Biological processes related to Tuberous Sclerosis Complex according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell sizeGO:04579210.6TSC2, TSC1, MTOR
2TOR signaling cascadeGO:03192910.6RPS6KB1, FLCN, MTOR, EIF4EBP1
3negative regulation of TOR signaling cascadeGO:03200710.6FLCN, TSC1, TSC2
4cell cycle arrestGO:00705010.5PPP1R15A, STK11, RHEB, TSC1, TSC2
5phosphatidylinositol-mediated signalingGO:04801510.5TSC2, EREG, MTOR, RPS6KB1
6insulin receptor signaling pathwayGO:00828610.5TSC2, TSC1, EIF4EBP1, RHEB, MTOR, STK11
7protein heterooligomerizationGO:05129110.4STK11, TSC1, TSC2
8neurotrophin TRK receptor signaling pathwayGO:04801110.4RPS6KA1, MTOR, DUSP6, RALA, EREG, TSC2
9regulation of protein kinase activityGO:04585910.4TSC1, MTOR
10response to glucagon stimulusGO:03376210.4STK11, RPS6KB1
11innate immune responseGO:04508710.3RPS6KA1, S100A7, MTOR, DUSP6, EREG, TSC2
12signal transductionGO:00716510.1RPS6KB1, RPS6KA1, CCL26, MTOR, RHEB, RALA
13positive regulation of TOR signaling cascadeGO:03200810.1RHEB, FLCN

Molecular functions related to Tuberous Sclerosis Complex according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055159.8TSC2, RPS6KA1, CALB1, S100A7, PSMC4, PPP1R15A

Products for genes affiliated with Tuberous Sclerosis Complex

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tuberous Sclerosis Complex

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet