MCID: TBR022
MIFTS: 52

Tuberous Sclerosis Complex malady

Genetic diseases (common) category
Download this MalaCard

Summaries for Tuberous Sclerosis Complex

About this section


Fully expand this MalaCard
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 based summary: Tuberous Sclerosis Complex, also known as bourneville disease, is related to lymphangioleiomyomatosis and tuberous sclerosis. An important gene associated with Tuberous Sclerosis Complex is TSC2 (tuberous sclerosis 2), and among its related pathways are PI3K / Akt Signaling and Nanog in Mammalian ESC Pluripotency. The compounds guanosine and 2-deoxyglucose have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and skin, and related mouse phenotypes are tumorigenesis and renal/urinary system.

GeneReviews summary for tuberous-sclerosis

Aliases & Classifications for Tuberous Sclerosis Complex

About this section

Tuberous Sclerosis Complex, Aliases & Descriptions:

Name: Tuberous Sclerosis Complex 19 20 21 62
Bourneville Disease 19 21 62
Cerebral Sclerosis 21 62
Sclerosis Tuberosa 21 62
 
Tuberose Sclerosis 21 62
Epiloia 21 62
Phacomatosis, Bourneville 62
Bourneville Phakomatosis 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Related Diseases for Tuberous Sclerosis Complex

About this section

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

(show top 50)    (show all 115)
idRelated DiseaseScoreTop Affiliating Genes
1lymphangioleiomyomatosis31.9TSC2, TSC1
2tuberous sclerosis31.9RPS6KB1, MTOR, CCL26, TSC1, TSC2
3subependymal giant cell astrocytoma31.4MTOR, TSC1, TSC2
4neurofibromatosis31.2TSC2, TSC1
5angiomyolipoma31.2MTOR, CCL26, TSC1, TSC2
6perivascular epithelioid cell tumor31.0TSC2
7polycystic kidney disease30.7MTOR, TSC2
8pneumothorax30.6FLCN, TSC1
9autistic disorder30.5TSC2, TSC1
10kidney angiomyolipoma30.3TSC2, TSC1, MTOR
11peutz-jeghers syndrome30.3MTOR, TSC1, TSC2
12adenocarcinoma30.2TSC2, TSC1, CCL26, RPS6KB1
13mental retardation30.1TSC2, TSC1, CCL26, MTOR, NTF4
14kidney cancer30.1FLCN, MTOR
15astrocytoma11.0
16cerebritis10.6
17hepatitis10.6
18giant cell tumor10.5
19aneurysm10.5
20renal cell carcinoma10.5
21fibroma10.5
22kidney disease10.5
23pancreatitis10.5
24hemimegalencephaly10.5
25kidney rhabdoid cancer10.4TSC2
26intracranial aneurysm10.4
27neuronitis10.4
28chordoma10.4
29retinitis10.4
30sleep disorder10.4
31blindness10.4
32end stage renal failure10.3
33lymphedema10.3
34arachnoiditis10.3
35hepatic angiomyolipoma10.3
36autism spectrum disorder10.3
37encephalitis10.3
38melanoma10.3
39meningioma10.3
40neuroendocrine tumor10.3
41arachnoid cysts10.3
42sturge-weber syndrome10.3
43weber syndrome10.3
44endotheliitis10.3
45infantile epileptic encephalopathy10.3TSC1, TSC2
46cowden disease10.3TSC2, TSC1
47ganglioglioma10.3TSC1, TSC2
48adrenoleukodystrophy10.2
49metachromatic leukodystrophy10.2
50attention deficit hyperactivity disorder10.2

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



Diseases related to tuberous sclerosis complex

Symptoms for Tuberous Sclerosis Complex

About this section

Drugs & Therapeutics for Tuberous Sclerosis Complex

About this section

Drug clinical trials:

Search ClinicalTrials for Tuberous Sclerosis Complex

Search NIH Clinical Center for Tuberous Sclerosis Complex

Genetic Tests for Tuberous Sclerosis Complex

About this section

Genetic tests related to Tuberous Sclerosis Complex:

id Genetic test Affiliating Genes
1 Tuberous Sclerosis Complex20 TSC2

Anatomical Context for Tuberous Sclerosis Complex

About this section

MalaCards organs/tissues related to Tuberous Sclerosis Complex:

32
Brain, Kidney, Skin, Bone, Cortex, Liver, Lung, T cells, Endothelial, Fetal brain, Eye, Adipocyte, Prostate, Testes, Cervix, Caudate nucleus

Animal Models for Tuberous Sclerosis Complex or affiliated genes

About this section

MGI Mouse Phenotypes related to Tuberous Sclerosis Complex:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.8RPS6KB1, TSC1, TSC2, FLCN
2MP:00053678.3MTOR, TSC1, TSC2, FLCN
3MP:00053858.2FLCN, DUSP6, TSC2, TSC1, RPS6KB1
4MP:00053868.1SLC2A2, NTF4, MTOR, TSC1, TSC2
5MP:00053808.0FLCN, TSC2, TSC1, MTOR, RPS6KB1
6MP:00053698.0DUSP6, TSC1, MTOR, RPS6KB1, SLC2A2
7MP:00053977.4FLCN, DUSP6, TSC2, MTOR, RPS6KB1
8MP:00053767.0FLCN, DUSP6, TSC2, TSC1, MTOR, RPS6KB1
9MP:00053846.7SLC2A2, FLCN, DUSP6, TSC2, TSC1, MTOR
10MP:00053786.7FLCN, DUSP6, TSC2, TSC1, MTOR, NTF4
11MP:00107686.7FLCN, DUSP6, TSC2, TSC1, MTOR, NTF4

Publications for Tuberous Sclerosis Complex

About this section

Articles related to Tuberous Sclerosis Complex:

(show top 50)    (show all 632)
idTitleAuthorsYear
1
Multiple ungual fibromas as an only cutaneous manifestation of tuberous sclerosis complex. (25201855)
2014
2
Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. (25364257)
2014
3
Recovery of chylous pulmonary congestion in tuberous sclerosis complex-associated lymphangioleiomyomatosis. (25326562)
2014
4
Chordoid meningioma in a pediatric patient with tuberous sclerosis complex. (25214863)
2014
5
Early neurodevelopmental screening in tuberous sclerosis complex: a potential window of opportunity. (25160545)
2014
6
Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation. (22805177)
2013
7
Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex. (24271014)
2013
8
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
9
Hepatitis C virus inhibits AKT-tuberous sclerosis complex (TSC), the mechanistic target of rapamycin (MTOR) pathway, through endoplasmic reticulum stress to induce autophagy. (23169238)
2013
10
Commentary on: everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial. (23642941)
2013
11
Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations. (23391693)
2013
12
Mammalian target of rapamycin complex 1 (mTORC1) enhances bortezomib-induced death in tuberous sclerosis complex (TSC)-null cells by a c-MYC-dependent induction of the unfolded protein response. (23612979)
2013
13
Pancreatic neuroendocrine tumor in a child with a tuberous sclerosis complex 2 (TSC2) mutation. (23757617)
2013
14
Arachnoid cysts in tuberous sclerosis complex. (24325802)
2013
15
Enhanced GABAergic network and receptor function in pediatric cortical dysplasia Type IIB compared with Tuberous Sclerosis Complex. (21889982)
2012
16
Testicular cancer and the tuberous sclerosis complex. (21767201)
2012
17
Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population. (21266383)
2011
18
Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review. (21692602)
2011
19
Neuropsychological attention skills and related behaviours in adults with tuberous sclerosis complex. (21191642)
2011
20
Tuberous sclerosis complex renal disease. (21071977)
2011
21
Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex. (21507691)
2011
22
Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex. (22025691)
2011
23
Early control of seizures improves long-term outcome in children with tuberous sclerosis complex. (19369101)
2010
24
Brain lesions in tuberous sclerosis complex. Review. (20924998)
2010
25
Prenatal diagnosis of cardiac rhabdomyomas: incidence of associated cerebral lesions of tuberous sclerosis complex. (19606448)
2009
26
TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex. (19419980)
2009
27
Prenatal molecular diagnosis of tuberous sclerosis complex. (19254590)
2009
28
Role of mutational analysis in diagnosis of tuberous sclerosis complex. (19250385)
2009
29
Prevalence of tuberous sclerosis complex in Taiwan: a national population-based study. (19887839)
2009
30
Epilepsy surgery and tuberous sclerosis complex: special considerations. (18759614)
2008
31
Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers. (18350576)
2008
32
Mechanisms of epileptogenesis in tuberous sclerosis complex and related malformations of cortical development with abnormal glioneuronal proliferation. (17727667)
2008
33
Behavior problems in children with tuberous sclerosis complex and parental stress. (18602868)
2008
34
Expression of tuberin and hamartin in tuberous sclerosis complex-associated and sporadic cortical dysplasia of Taylor's balloon cell type. (18368626)
2008
35
Tuberous sclerosis complex: a tale of two genes. (18347312)
2008
36
The correlation between 1H-MR spectroscopy and clinical manifestation with tuberous sclerosis complex. (17985261)
2007
37
The Birt-Hogg-Dube and tuberous sclerosis complex homologs have opposing roles in amino acid homeostasis in Schizosaccharomyces pombe. (17556368)
2007
38
Selective inhibition of growth of tuberous sclerosis complex 2 null cells by atorvastatin is associated with impaired Rheb and Rho GTPase function and reduced mTOR/S6 kinase activity. (17942919)
2007
39
The tuberous sclerosis complex. (17205616)
2007
40
Tuberous sclerosis complex]. (17435807)
2007
41
A defect in protein farnesylation suppresses a loss of Schizosaccharomyces pombe tsc2+, a homolog of the human gene predisposing to tuberous sclerosis complex. (16624901)
2006
42
The diverse clinical manifestations of tuberous sclerosis complex: a review. (16818173)
2006
43
Effect of melatonin dosage on sleep disorder in tuberous sclerosis complex. (15791928)
2005
44
Phosphorylation of tuberin as a novel mechanism for somatic inactivation of the tuberous sclerosis complex proteins in brain lesions. (14871804)
2004
45
Tuberous sclerosis complex: from Drosophila to human disease. (15102439)
2004
46
14-3-3beta binds to and negatively regulates the tuberous sclerosis complex 2 (TSC2) tumor suppressor gene product, tuberin. (12468542)
2003
47
Rheb binds tuberous sclerosis complex 2 (TSC2) and promotes S6 kinase activation in a rapamycin- and farnesylation-dependent manner. (12842888)
2003
48
Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex. (12015165)
2002
49
Mutational analysis of the von hippel lindau gene in clear cell renal carcinomas from tuberous sclerosis complex patients. (11904337)
2002
50
Tuberous sclerosis complex: neonatal deaths in three of four children of consanguineous, non-expressing parents. (9132502)
1997

Variations for Tuberous Sclerosis Complex

About this section

Expression for genes affiliated with Tuberous Sclerosis Complex

About this section
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

About this section

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

(show all 34)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8TSC1, TSC2
2
Show member pathways
9.4RPS6KB1, TSC1, TSC2
39.4TSC2, TSC1, RPS6KB1
4
Show member pathways
9.4TSC2, TSC1, RPS6KB1
5
Show member pathways
9.4TSC2, TSC1, RPS6KB1
6
Show member pathways
IL2 signaling events mediated by STAT537
9.2RPS6KB1, MTOR
79.2MTOR, RPS6KB1
89.2RPS6KB1, MTOR
9
Show member pathways
9.1SLC2A2, MTOR
10
Show member pathways
Signaling Pathways in Glioblastoma37
9.0MTOR, TSC1, TSC2
119.0MTOR, TSC1, TSC2
12
Show member pathways
Prostate Cancer37
Integrated Cancer pathway37
Steroid Biosynthesis37
9.0MTOR, TSC1, TSC2
139.0MTOR, TSC1, TSC2
14
Show member pathways
9.0TSC2, TSC1, CCL26, RPS6KB1
15
Show member pathways
Signal transduction PTEN pathway60
8.9RPS6KB1, MTOR, TSC2
168.9RPS6KB1, MTOR, TSC2
178.9RPS6KB1, MTOR, TSC2
18
Show member pathways
Development Role of HDAC and calcium calmodulin dependent kinase CaMK in control of skeletal myogenesis60
8.9RPS6KB1, MTOR, TSC2
19
Show member pathways
Cytoskeleton remodeling FAK signaling60
Development Endothelin 1 EDNRA transactivation of EGFR60
8.9TSC2, MTOR, RPS6KB1
20
Show member pathways
Development Activation of ERK by Alpha 1 adrenergic receptors60
8.9TSC2, MTOR, RPS6KB1
21
Show member pathways
Translation Non genomic rapid action of Androgen Receptor60
8.9TSC2, MTOR, RPS6KB1
228.8CCL26, MTOR, RPS6KB1
23
Show member pathways
8.8DUSP6, TSC2, MTOR
24
Show member pathways
Prolactin Signaling Pathway37
Development Prolactin receptor signaling60
Leptin signaling pathway37
8.7MTOR, RPS6KB1, SLC2A2
258.5RPS6KB1, MTOR, TSC1, TSC2
26
Show member pathways
Immune response IL 4 signaling pathway60
Signal transduction AKT signaling60
8.5RPS6KB1, MTOR, TSC1, TSC2
278.5RPS6KB1, MTOR, TSC1, TSC2
28
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events37
ErbB2/ErbB3 signaling events37
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
8.5RPS6KB1, MTOR, TSC1, TSC2
298.5TSC2, TSC1, MTOR, RPS6KB1
30
Show member pathways
mTOR signaling pathway37
8.5TSC2, TSC1, MTOR, RPS6KB1
318.5TSC2, TSC1, MTOR, RPS6KB1
32
Show member pathways
8.5TSC2, TSC1, MTOR, RPS6KB1
33
Show member pathways
8.0RPS6KB1, MTOR, TSC1, TSC2, DUSP6
347.9RPS6KB1, MTOR, TSC1, TSC2, FLCN

Compounds for genes affiliated with Tuberous Sclerosis Complex

About this section

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

(show all 26)
idCompoundScoreTop Affiliating Genes
1guanosine44 24 1111.5TSC1, TSC2
22-deoxyglucose44 1110.5SLC2A2, RPS6KB1
3phenylephrine44 28 24 1112.5RPS6KB1, DUSP6
4paraffin449.4SLC2A2, TSC1, TSC2
5aicar44 24 1111.4RPS6KB1, MTOR
6okadaic acid44 6110.2RPS6KB1, MTOR, TSC2
7forskolin44 50 1111.2NTF4, RPS6KB1, SLC2A2
8ly294002449.1RPS6KB1, MTOR, TSC2
9wortmannin449.1TSC2, MTOR, RPS6KB1
10everolimus44 50 1110.9RPS6KB1, MTOR, TSC1, TSC2
11phosphoinositide448.9TSC2, TSC1, MTOR, RPS6KB1
12vegf448.8TSC2, TSC1, MTOR, RPS6KB1
13threonine448.8TSC2, TSC1, MTOR, RPS6KB1
14cisplatin44 50 61 1111.7MTOR, NTF4, RPS6KB1
15pd 98,059448.7RPS6KB1, MTOR, TSC1, DUSP6
16leucine448.7TSC2, MTOR, RPS6KB1, SLC2A2
17arginine448.7SLC2A2, NTF4, MTOR, TSC2
18phosphatidylinositol448.5TSC2, TSC1, MTOR, NTF4, RPS6KB1
19serine448.4TSC2, TSC1, MTOR, NTF4, RPS6KB1
20glycogen44 249.4TSC2, TSC1, MTOR, RPS6KB1, SLC2A2
21glucose448.3TSC2, TSC1, MTOR, RPS6KB1, SLC2A2
22oxygen44 249.3DUSP6, TSC2, CCL26, MTOR, RPS6KB1
23atp44 289.3SLC2A2, RPS6KB1, MTOR, CCL26, TSC2
24calcium44 50 24 1111.0DUSP6, CCL26, MTOR, NTF4, RPS6KB1
25tyrosine447.9DUSP6, TSC2, TSC1, MTOR, NTF4, RPS6KB1
26rapamycin447.9FLCN, TSC2, TSC1, CCL26, MTOR, RPS6KB1

GO Terms for genes affiliated with Tuberous Sclerosis Complex

About this section

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

idNameGO IDScoreTop Affiliating Genes
1TSC1-TSC2 complexGO:0335969.8TSC1, TSC2
2membraneGO:0160208.2TSC2, TSC1, MTOR, SLC2A2
3cytosolGO:0058298.0RPS6KB1, MTOR, TSC1, TSC2, DUSP6
4cytoplasmGO:0057376.8FLCN, DUSP6, TSC2, TSC1, MTOR, RPS6KB1

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1cell projection organizationGO:03003010.0TSC1, TSC2
2protein kinase B signalingGO:0434919.9TSC2, RPS6KB1
3long-term memoryGO:0076169.9RPS6KB1, NTF4
4protein heterooligomerizationGO:0512919.8TSC1, TSC2
5negative regulation of protein kinase B signalingGO:0518989.8TSC2, FLCN
6regulation of protein kinase activityGO:0458599.6TSC1, MTOR
7negative regulation of ERK1 and ERK2 cascadeGO:0703739.6FLCN, DUSP6
8neural tube closureGO:0018439.5TSC1, TSC2
9negative regulation of TOR signalingGO:0320079.5TSC1, TSC2, FLCN
10positive regulation of actin filament polymerizationGO:0308389.4CCL26, MTOR
11germ cell developmentGO:0072819.3RPS6KB1, MTOR
12negative regulation of cell sizeGO:0457929.3MTOR, TSC1, TSC2
13positive regulation of translationGO:0457279.3RPS6KB1, MTOR
14response to nutrientGO:0075849.2RPS6KB1, MTOR
15positive regulation of endothelial cell proliferationGO:0019389.2CCL26, MTOR
16phosphatidylinositol-mediated signalingGO:0480159.2RPS6KB1, MTOR, TSC2
17neurotrophin TRK receptor signaling pathwayGO:0480119.0DUSP6, TSC2, MTOR
18TOR signalingGO:0319298.9FLCN, MTOR, RPS6KB1
19insulin receptor signaling pathwayGO:0082868.8TSC2, TSC1, MTOR, RPS6KB1

Products for genes affiliated with Tuberous Sclerosis Complex

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Tuberous Sclerosis Complex

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet