MCID: TBR001
MIFTS: 68

Tuberous Sclerosis malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Skin diseases, Fetal diseases, Cancer diseases categories

Aliases & Classifications for Tuberous Sclerosis

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Sources:
42NIH Rare Diseases, 61UMLS, 8Disease Ontology, 64Wikipedia, 43NINDS, 10DISEASES, 44Novoseek, 48Orphanet, 32MedlinePlus, 22GTR, 56SNOMED-CT, 33MeSH, 39NCIt, 27ICD9CM, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Aliases & Descriptions for Tuberous Sclerosis:

Name: Tuberous Sclerosis 8 64 42 43 10 44 48 32 61
Tuberous Sclerosis Syndrome 8 22
Tuberous Sclerosis Complex 42 48
Tuberous Sclerosis 1 42 61
Bourneville Syndrome 42 48
Cerebral Sclerosis 8 64
Tuberose Sclerosis 8 64
 
Epiloia 8 64
Bourneville Phakomatosis 64
Bourneville's Syndrome 42
Bourneville's Disease 8
Bourneville Disease 64
Sclerosis Tuberosa 64


Classifications:



Characteristics (Orphanet epidemiological data):

48
tuberous sclerosis:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (United States),1-5/10000 (Europe),1-9/100000 (Europe),1-9/100000 (United Kingdom),1-9/100000 (Taiwan, Province of China); Age of onset: Childhood


External Ids:

Disease Ontology8 DOID:13515
MeSH33 D014402
NCIt39 C3424
ICD9CM27 759.5
Orphanet48 805
MESH via Orphanet34 D014402
ICD10 via Orphanet26 Q85.1
UMLS via Orphanet62 C0041341
ICD1025 Q85.1

Summaries for Tuberous Sclerosis

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MedlinePlus:32 Tuberous sclerosis is a rare genetic disease that causes benign tumors to grow in the brain and other organs. symptoms vary, depending on where the tumors grow. they could include skin problems, such as light patches and thickened skin seizures behavior problems intellectual disabilities kidney problems some people have signs of tuberous sclerosis at birth. in others it can take time for the symptoms to develop. the disease can be mild, or it can cause severe disabilities. in rare cases, tumors in vital organs or other symptoms can be life-threatening. tuberous sclerosis has no cure, but treatments can help symptoms. options include medicines, educational and occupational therapy, surgery, or surgery to treat specific complications. nih: national institute of neurological disorders and stroke

MalaCards based summary: Tuberous Sclerosis, also known as tuberous sclerosis syndrome, is related to lymphangioleiomyomatosis and subependymal giant cell astrocytoma, and has symptoms including prominent occiput, eeg abnormality and neoplasm of the nervous system. An important gene associated with Tuberous Sclerosis is TSC2 (tuberous sclerosis 2), and among its related pathways are PI3K / Akt Signaling and Regulation of Telomerase. The compounds aicar and brd 7389 have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and brain, and related mouse phenotypes are renal/urinary system and tumorigenesis.

NIH Rare Diseases:42 Tuberous sclerosis is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. common signs and symptoms include 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. tumors may cause developmental problems (e.g., seizures, hyperactivity, aggression, learning problems, autistic-like behaviors). some tumors can cause serious complications (e.g., those affecting the brain, heart, or kidney). tuberous sclerosis complex has an autosomal dominant pattern of inheritance and can be caused by mutations in the tsc1 or tsc2 gene. last updated: 10/29/2010

NINDS:43 Tuberous sclerosis (TSC) is a rare genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin.

Wikipedia:64 Tuberous sclerosis or tuberous sclerosis complex (TSC) is a rare multi-system genetic disease that... more...

Related Diseases for Tuberous Sclerosis

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Diseases in the Tuberous Sclerosis family:

Tuberous Sclerosis-1

Diseases related to Tuberous Sclerosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 241)
idRelated DiseaseScoreTop Affiliating Genes
1lymphangioleiomyomatosis32.2TSC1, TSC2
2subependymal giant cell astrocytoma32.0TSC2, TSC1, MTOR
3tuberous sclerosis-131.8TSC1, TSC2
4kidney disease31.6MTOR
5angiomyolipoma31.5TSC2, TSC1, CCL26, MTOR, RPS6, RHEB
6polycystic kidney disease31.3PKD1, MTOR, TSC2
7west syndrome31.1TSC1, TSC2
8perivascular epithelioid cell tumor31.0RHEB, TSC2
9kidney angiomyolipoma31.0TSC2, TSC1, MTOR
10ganglioglioma30.9GFAP, TSC2, TSC1
11mental retardation30.7TSC2, TSC1, CCL26, MTOR, RHOD
12von hippel-lindau syndrome30.4PKD1, TSC2
13peutz-jeghers syndrome30.3TSC2, TSC1, STK11, MTOR
14astrocytoma30.3PIK3CA, GFAP, TSC2, TSC1, STK11, RAP1A
15kidney cancer30.2PIK3CA, TSC2, MTOR
16adenoma29.6CDKN1B, GSR, STK11, TSC1
17adenocarcinoma29.3PIK3CA, TSC2, TSC1, STK11, CCL26, RPS6KB1
18hepatocellular carcinoma29.2PIK3CA, STK11, MTOR, RPS6KB1, RHOD, CDKN1B
19leukemia29.2PIK3CA, MTOR, RPS6KB1, RAP1A, EIF4EBP1, CDKN1B
20pancreatic cancer29.0PIK3CA, STK11, MTOR, RPS6KB1, RHOD, EIF4EBP1
21melanoma28.9PIK3CA, TSC2, STK11, MTOR, RPS6KA1, RAP1A
22prostate cancer28.2PIK3CA, MTOR, PKD1, RPS6, RPS6KB1, GSR
23polycystic kidney disease, infantile severe, with tuberous sclerosis10.7
24cerebritis10.7
25renal cell carcinoma10.6
26aneurysm10.6
27hepatitis10.6
28pancreatitis10.6
29neurofibromatosis10.5
30retinitis10.5
31tsc2 angiomyolipomas, renal, modifier of10.5
32hemimegalencephaly10.5
33fibroma10.5
34chordoma10.5
35giant cell tumor10.5
36hepatic angiomyolipoma10.5
37intracranial aneurysm10.5
38weber syndrome10.5
39neurofibromatosis, type 110.4
40neuronitis10.4
41wolff-parkinson-white syndrome10.4
42lymphedema10.4
43autism spectrum disorder10.4
44sleep disorder10.4
45gigantism10.4
46alexander disease10.4GFAP
47cystic kidney10.3PKD1, TSC2
48polycystic kidney and hepatic disease10.3PKD1, TSC2
49renal oncocytoma10.3
50neuroendocrine tumor10.3

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



Diseases related to tuberous sclerosis

Symptoms for Tuberous Sclerosis

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Symptoms:

 48 (show all 44)
  • prominent occiput/occipital bossing
  • follicular/erythematous/edematous papules/milium
  • cutaneous neurofibromas/facial angiofibromas/koenen tumors
  • adenoma sebaceum
  • pedunculated skin lesions
  • eeg anomalies
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
  • autosomal dominant inheritance
  • retinal hamartoma
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • macules
  • irregular/patchy skin hypopigmentation
  • cafe-au-lait spot
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • ungual/paraungual fibromas (fingernails)
  • ungual/parungual fibromas (toenails)
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • psychic/behavioural troubles
  • coloboma of iris
  • gingivitis
  • enamel anomaly
  • macrodactyly/fingers hypertrophy/megalodactyly (hand)
  • structural anomalies of the liver and the biliary tract
  • structural anomalies of the pancreas
  • structural anomalies of the respiratory system and diaphragm
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • emphysema
  • visceral angiomatosis (excluding skin)
  • cardiac rhythm disorder/arrhythmia
  • heart/cardiac failure
  • arterial aneurism (excluding aorta)
  • lymphangioma/lymphatic malformations
  • polycystic kidneys
  • renal failure
  • hypothyroidy
  • precocious puberty
  • corpus callosum/septum pellucidum total/partial agenesis
  • intracranial/cerebral calcifications
  • cranial hypertension
  • heart/cardiac tumor
  • kidney/renal neoplasm/tumor/carcinoma/cancer

HPO human phenotypes related to Tuberous Sclerosis:

(show all 36)
id Description Frequency HPO Source Accession
1 prominent occiput hallmark (90%) HP:0000269
2 eeg abnormality hallmark (90%) HP:0002353
3 neoplasm of the nervous system hallmark (90%) HP:0004375
4 adenoma sebaceum hallmark (90%) HP:0009720
5 optic atrophy typical (50%) HP:0000648
6 behavioral abnormality typical (50%) HP:0000708
7 cafe-au-lait spot typical (50%) HP:0000957
8 hypermelanotic macule typical (50%) HP:0001034
9 hypopigmented skin patches typical (50%) HP:0001053
10 seizures typical (50%) HP:0001250
11 retinal hamartoma typical (50%) HP:0009594
12 cognitive impairment typical (50%) HP:0100543
13 ungual fibroma typical (50%) HP:0100804
14 renal insufficiency occasional (7.5%) HP:0000083
15 polycystic kidney dysplasia occasional (7.5%) HP:0000113
16 gingivitis occasional (7.5%) HP:0000230
17 iris coloboma occasional (7.5%) HP:0000612
18 abnormality of dental enamel occasional (7.5%) HP:0000682
19 hypothyroidism occasional (7.5%) HP:0000821
20 precocious puberty occasional (7.5%) HP:0000826
21 abnormality of the liver occasional (7.5%) HP:0001392
22 congestive heart failure occasional (7.5%) HP:0001635
23 abnormality of the pancreas occasional (7.5%) HP:0001732
24 respiratory insufficiency occasional (7.5%) HP:0002093
25 emphysema occasional (7.5%) HP:0002097
26 abnormality of the pleura occasional (7.5%) HP:0002103
27 cerebral calcification occasional (7.5%) HP:0002514
28 increased intracranial pressure occasional (7.5%) HP:0002516
29 aneurysm occasional (7.5%) HP:0002617
30 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
31 renal neoplasm occasional (7.5%) HP:0009726
32 arrhythmia occasional (7.5%) HP:0011675
33 neoplasm of the heart occasional (7.5%) HP:0100544
34 macrodactyly of finger occasional (7.5%) HP:0100746
35 visceral angiomatosis occasional (7.5%) HP:0100761
36 lymphangioma occasional (7.5%) HP:0100764

Drugs & Therapeutics for Tuberous Sclerosis

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FDA approved drugs:

id Drug Name Active Ingredient(s)13 Pharmaceutical Company Approval Date
1
Afinitor13 38 EVEROLIMUS Novartis Approved March 2009
FDA Label: Afinitor
Malady that Drug Treats: renal cell carcinoma/ renal angiomyolipoma associated with tuberous sclerosis complex/ advanced pancreatic neuroendocrine tumor
Indications and Usage:13 AFINITOR is a kinase inhibitor indicated for the treatment of: postmenopausal women with advanced hormone receptor-positive, HER2- negative breast cancer (advanced HR+ BC) in combination with exemestane after failure of treatment with letrozole or anastrozole. (1.1) adults with progressive neuroendocrine tumors of pancreatic origin (PNET) that are unresectable, locally advanced or metastatic. AFINITOR is not indicated for the treatment of patients with functional carcinoid tumors. (1.2) adults with advanced renal cell carcinoma (RCC) after failure of treatment with sunitinib or sorafenib. (1.3) adults with renal angiomyolipoma and tuberous sclerosis complex (TSC), not requiring immediate surgery. The effectiveness of AFINITOR in the treatment of renal angiomyolipoma is based on an analysis of durable objective responses in patients treated for a median of 8.3 months. Further follow-up of patients is required to determine long-term outcomes. (1.4) AFINITOR and AFINITOR DISPERZ are kinase inhibitors indicated for the treatment of: pediatric and adult patients with tuberous sclerosis complex (TSC) who have subependymal giant cell astrocytoma (SEGA) that requires therapeutic intervention but cannot be curatively resected. The effectiveness is based on demonstration of durable objective response, as evidenced by reduction in SEGA tumor volume. Improvement in diseaserelated symptoms and overall survival in patients with SEGA and TSC has not been demonstrated. (1.5)
DrugBank Targets:11 Serine/threonine-protein kinase mTOR
Mechanism of Action:13 
Target: mTOR
Action: inhibitor
FDA: Everolimus is an inhibitor of mammalian target of rapamycin (mTOR), a serine-threonine kinase, downstream of the; PI3K/AKT pathway. The mTOR pathway is dysregulated in several human cancers. Everolimus binds to an intracellular; protein, FKBP-12, resulting in an inhibitory complex formation with mTOR complex 1 (mTORC1) and thus inhibition of; mTOR kinase activity. Everolimus reduced the activity of S6 ribosomal protein kinase (S6K1) and eukaryotic initiation; factor 4E-binding protein (4E-BP1), downstream effectors of mTOR, involved in protein synthesis. S6K1 is a substrate of; mTORC1 and phosphorylates the activation domain 1 of the estrogen receptor which results in ligand-independent; activation of the receptor. In addition, everolimus inhibited the expression of hypoxia-inducible factor (e.g., HIF-1) and; reduced the expression of vascular endothelial growth factor (VEGF). Inhibition of mTOR by everolimus has been shown; to reduce cell proliferation, angiogenesis, and glucose uptake in in vitro and/or in vivo studies.; Constitutive activation of the PI3K/Akt/mTOR pathway can contribute to endocrine resistance in breast cancer. In vitro; studies show that estrogen-dependent and HER2+ breast cancer cells are sensitive to the inhibitory effects of everolimus,; and that combination treatment with everolimus and Akt, HER2, or aromatase inhibitors enhances the anti-tumor activity; of everolimus in a synergistic manner.; Two regulators of mTORC1 signaling are the oncogene suppressors tuberin-sclerosis complexes 1 and 2 (TSC1, TSC2).; Loss or inactivation of either TSC1 or TSC2 leads to activation of downstream signaling. In TSC, a genetic disorder,; inactivating mutations in either the TSC1 or the TSC2 gene lead to hamartoma formation throughout the body.

Drug clinical trials:

Search ClinicalTrials for Tuberous Sclerosis

Search NIH Clinical Center for Tuberous Sclerosis

Genetic Tests for Tuberous Sclerosis

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Genetic tests related to Tuberous Sclerosis:

id Genetic test Affiliating Genes
1 Tuberous Sclerosis Syndrome22

Anatomical Context for Tuberous Sclerosis

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MalaCards organs/tissues related to Tuberous Sclerosis:

31
Skin, Kidney, Brain, Heart, Lung, Eye, Liver, Pancreas, Bone, Cortex, Endothelial, Smooth muscle, Lymph node, Adipocyte, Uterus, Testes, T cells, Fetal brain, Cerebellum, Small intestine, Colon, Thyroid, Breast, Ovary, Prostate, Testis, Cervix, Temporal lobe, Pancreatic islet, Spinal cord, Caudate nucleus

Animal Models for Tuberous Sclerosis or affiliated genes

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MGI Mouse Phenotypes related to Tuberous Sclerosis:

35 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.1STK11, TSC1, MTOR, PKD1, CDKN1B, TSC2
2MP:00020069.0STK11, RPS6KB1, TSC1, TSC2, PIK3CA, PKD1
3MP:00053708.9TSC2, TSC1, CDKN1B, STK11, PKD1, RPS6
4MP:00053898.7PIK3CA, TSC2, CDKN1B, TSC1, STK11, PKD1
5MP:00107718.6CDKN1B, PKD1, STK11, TSC1, PIK3CA, TSC2
6MP:00028738.6PKD1, MTOR, STK11, TSC2, GFAP, RHEB
7MP:00053808.6STK11, MTOR, PKD1, RPS6KB1, TSC1, TSC2
8MP:00053758.4PKD1, PIK3CA, CDKN1B, EIF4EBP1, MTOR
9MP:00053798.4RPS6KB1, PIK3CA, TSC2, TSC1, PKD1, CDKN1B
10MP:00053978.3MTOR, TSC2, PKD1, RPS6KB1, RAP1A, CDKN1B
11MP:00053698.3GFAP, STK11, MTOR, RPS6KB1, RHEB, PKD1
12MP:00053868.1TSC1, GFAP, STK11, MTOR, RAP1A, PIK3CA
13MP:00053877.7MTOR, PKD1, GFAP, RAP1A, RHEB, CDKN1B
14MP:00036317.6RAP1A, RHEB, PIK3CA, PKD1, MTOR, STK11
15MP:00053787.2GFAP, RPS6KB1, TSC2, PIK3CA, EIF4EBP1, CDKN1B
16MP:00053766.7STK11, CDKN1B, EIF4EBP1, RPS6KB1, RPS6, PIK3CA
17MP:00107686.6GFAP, TSC2, TSC1, STK11, MTOR, PKD1
18MP:00053856.6CDKN1B, TSC2, TSC1, STK11, PIK3CA, RAP1A
19MP:00053846.1MTOR, EIF4EBP1, RHEB, RAP1A, RPS6KB1, RPS6

Publications for Tuberous Sclerosis

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Articles related to Tuberous Sclerosis:

(show top 50)    (show all 1242)
idTitleAuthorsYear
1
Age-related changes of susceptibility-weighted imaging in subependymal nodules of neonates and children with tuberous sclerosis complex. (25907013)
2015
2
Multiple ungual fibromas as an only cutaneous manifestation of tuberous sclerosis complex. (25201855)
2014
3
Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. (25364257)
2014
4
Recovery of chylous pulmonary congestion in tuberous sclerosis complex-associated lymphangioleiomyomatosis. (25326562)
2014
5
Fetal and Postnatal Magnetic Resonance Imaging of Unilateral Cystic Renal Dysplasia in a Neonate with Tuberous Sclerosis. (24495558)
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
Giant pilomatricoma in a patient with tuberous sclerosis, both diagnosed in the adult life. (23988820)
2013
9
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
10
Polycystic kidney disease and chronic renal failure in tuberous sclerosis. (24092520)
2013
11
Vigabatrin and mental retardation in tuberous sclerosis: infantile spasms versus focal seizures. (22752486)
2013
12
T2 weighted MRI for assessing renal lesions in transgenic mouse models of tuberous sclerosis. (21802234)
2012
13
Enhanced GABAergic network and receptor function in pediatric cortical dysplasia Type IIB compared with Tuberous Sclerosis Complex. (21889982)
2012
14
Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population. (21266383)
2011
15
Facial unilateral angiofibromas: a postzygotic tuberous sclerosis like mutation. (22016299)
2011
16
Effects of rapamycin on angiomyolipomas in patients with tuberous sclerosis. (21629335)
2011
17
Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review. (21692602)
2011
18
Neuropsychological attention skills and related behaviours in adults with tuberous sclerosis complex. (21191642)
2011
19
The morphologic spectrum of uterine PEC-cell associated tumors in a patient with tuberous sclerosis. (21293289)
2011
20
Genetic analysis of tuberous-sclerosis genes 1 and 2 in nonlesional focal epilepsy. (21555252)
2011
21
Intractable epilepsy in tuberous sclerosis: is the tuber removal not enough? (21175458)
2010
22
Prenatal diagnosis of rhabdomyomas and cerebral tuberous sclerosis by magnetic resonance imaging in one fetus of a dizygotic twin pregnancy associated with a frameshift mutation in the TSC2 gene. (21056333)
2010
23
The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway. (18845692)
2009
24
Epilepsy surgery and tuberous sclerosis complex: special considerations. (18759614)
2008
25
Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers. (18350576)
2008
26
Metastatic breast carcinoma to renal angiomyolipomas in tuberous sclerosis. (18308125)
2008
27
Mechanisms of epileptogenesis in tuberous sclerosis complex and related malformations of cortical development with abnormal glioneuronal proliferation. (17727667)
2008
28
The correlation between 1H-MR spectroscopy and clinical manifestation with tuberous sclerosis complex. (17985261)
2007
29
The Birt-Hogg-Dube and tuberous sclerosis complex homologs have opposing roles in amino acid homeostasis in Schizosaccharomyces pombe. (17556368)
2007
30
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
31
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
32
Turnover of the active fraction of IRS1 involves raptor-mTOR- and S6K1-dependent serine phosphorylation in cell culture models of tuberous sclerosis. (16914728)
2006
33
Effect of melatonin dosage on sleep disorder in tuberous sclerosis complex. (15791928)
2005
34
Phosphorylation of tuberin as a novel mechanism for somatic inactivation of the tuberous sclerosis complex proteins in brain lesions. (14871804)
2004
35
Conservative management of pulmonary lymphangioleiomyomatosis and tuberous sclerosis complicated by renal angiomyolipomas in pregnancy. (15209123)
2004
36
Tuberous sclerosis with hypothyroidism and precocious puberty. (15080418)
2004
37
Tuberous sclerosis: immunohistochemistry expression of tuberin and hamartin in a 31-week gestational fetus. (16095035)
2004
38
14-3-3beta binds to and negatively regulates the tuberous sclerosis complex 2 (TSC2) tumor suppressor gene product, tuberin. (12468542)
2003
39
Rheb binds tuberous sclerosis complex 2 (TSC2) and promotes S6 kinase activation in a rapamycin- and farnesylation-dependent manner. (12842888)
2003
40
Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex. (12015165)
2002
41
Phosphatidylinositol 3-kinase/Akt pathway regulates tuberous sclerosis tumor suppressor complex by phosphorylation of tuberin. (12167664)
2002
42
Ophthalmic manifestations of tuberous sclerosis: a population based study. (11264130)
2001
43
Early diagnosis of subependymal giant cell astrocytoma in patients with tuberous sclerosis. (9568761)
1998
44
Multifocal alveolar hyperplasia associated with lymphangioleiomyomatosis in tuberous sclerosis. (9205862)
1997
45
Localization of tuberous sclerosis 2 mRNA and its protein product tuberin in normal human brain and in cerebral lesions of patients with tuberous sclerosis. (8944308)
1996
46
Tissue and cell-type specific expression of the tuberous sclerosis gene, TSC2, in human tissues. (8933518)
1996
47
An autopsy case of tuberous sclerosis. Histological and immunohistochemical study. (1457992)
1992
48
Factor XIIIa in the hamartomas of tuberous sclerosis. (1675869)
1991
49
Hepatic angiomyolipoma in a tuberous sclerosis patient. (2401620)
1990
50
Subependymal giant-cell astrocytoma associated with tuberous sclerosis. Do subependymal nodules grow? (2702677)
1989

Variations for Tuberous Sclerosis

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Clinvar genetic disease variations for Tuberous Sclerosis:

5 (show all 25)
id Gene Variation Type Significance SNP ID Assembly Location
1TSC2TSC2, 1-BP DEL, 5110AdeletionPathogenic
2TSC2NM_000548.3(TSC2): c.4642delC (p.Leu1548Cysfs)deletionPathogenicrs137854083GRCh37Chr 16, 2135303: 2135303
3TSC2NM_000548.3(TSC2): c.5024C> T (p.Pro1675Leu)single nucleotide variantPathogenicrs45483392GRCh37Chr 16, 2137898: 2137898
4TSC2NM_000548.3(TSC2): c.34A> T (p.Lys12Ter)single nucleotide variantPathogenicrs45512692GRCh37Chr 16, 2098650: 2098650
5TSC2NM_000548.3(TSC2): c.2056_2059dupTACT (p.Ser687Leufs)duplicationPathogenicrs137854337GRCh37Chr 16, 2121894: 2121897
6TSC2NM_000548.3(TSC2): c.1513C> T (p.Arg505Ter)single nucleotide variantPathogenicrs45517179GRCh37Chr 16, 2114342: 2114342
7TSC2NM_000548.3(TSC2): c.1832G> A (p.Arg611Gln)single nucleotide variantPathogenicrs28934872GRCh37Chr 16, 2120572: 2120572
8TSC2NM_000548.3(TSC2): c.2150T> G (p.Leu717Arg)single nucleotide variantPathogenicrs45517214GRCh37Chr 16, 2122294: 2122294
9TSC2NM_000548.3(TSC2): c.1432C> T (p.Gln478Ter)single nucleotide variantPathogenicrs121964862GRCh37Chr 16, 2113043: 2113043
10TSC2NM_000548.3(TSC2): c.4508A> C (p.Gln1503Pro)single nucleotide variantPathogenicrs45516293GRCh37Chr 16, 2134966: 2134966
11TSC2NM_000548.3(TSC2): c.5238_5255del18 (p.His1746_Arg1751del)deletionPathogenicrs137854225GRCh37Chr 16, 2138305: 2138322
12TSC2NM_000548.3(TSC2): c.2714G> A (p.Arg905Gln)single nucleotide variantPathogenicrs45517259GRCh37Chr 16, 2126143: 2126143
13TSC2NM_000548.3(TSC2): c.2713C> T (p.Arg905Trp)single nucleotide variantPathogenicrs45517258GRCh37Chr 16, 2126142: 2126142
14TSC2NM_000548.3(TSC2): c.2713C> G (p.Arg905Gly)single nucleotide variantPathogenicrs45517258GRCh37Chr 16, 2126142: 2126142
15TSC2NM_000548.3(TSC2): c.2355+2_2355+5delTAGGdeletionPathogenicrs137854250GRCh37Chr 16, 2122986: 2122989
16TSC2NM_000548.3(TSC2): c.1322G> A (p.Trp441Ter)single nucleotide variantPathogenicrs45515894GRCh37Chr 16, 2112562: 2112562
17TSC1NM_000368.4(TSC1): c.812_813delAT (p.Tyr271Terfs)deletionPathogenicrs118203451GRCh37Chr 9, 135787769: 135787770
18TSC2NM_000548.3(TSC2): c.5138G> A (p.Arg1713His)single nucleotide variantPathogenicrs45517395GRCh37Chr 16, 2138118: 2138118
19TSC1NM_000368.4(TSC1): c.1888_1891delAAAG (p.Lys630Glnfs)deletionPathogenicrs118203595GRCh37Chr 9, 135781074: 135781077
20TSC1NM_000368.4(TSC1): c.749T> A (p.Leu250Ter)single nucleotide variantPathogenicrs118203447GRCh37Chr 9, 135787833: 135787833
21TSC1NM_000368.4(TSC1): c.1760A> G (p.Lys587Arg)single nucleotide variantPathogenicrs118203576GRCh37Chr 9, 135781205: 135781205
22TSC1NM_000368.4(TSC1): c.1904_1905delCA (p.Thr635Argfs)deletionPathogenicrs118203598GRCh37Chr 9, 135781060: 135781061
23TSC1NM_000368.4(TSC1): c.1671_1693del23 (p.Ser561Argfs)deletionPathogenicrs118203557GRCh37Chr 9, 135781272: 135781294
24TSC1NM_000368.4(TSC1): c.671T> G (p.Met224Arg)single nucleotide variantPathogenicrs118203426GRCh37Chr 9, 135796816: 135796816
25TSC1NM_000368.4(TSC1): c.539T> C (p.Leu180Pro)single nucleotide variantPathogenicrs118203396GRCh37Chr 9, 135797330: 135797330

Expression for genes affiliated with Tuberous Sclerosis

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Search GEO for disease gene expression data for Tuberous Sclerosis.

Pathways for genes affiliated with Tuberous Sclerosis

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Pathways related to Tuberous Sclerosis according to GeneCards Suite gene sharing:

(show top 50)    (show all 69)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8TSC2, TSC1, PIK3CA
29.7RPS6KB1, CDKN1B, MTOR
39.6RPS6KB1, CDKN1B, PIK3CA
49.6TSC2, MTOR, STK11, TSC1
59.5TSC1, TSC2, RPS6KB1, CDKN1B
69.5RPS6KB1, MTOR, CCL26, PIK3CA
7
Show member pathways
9.4PIK3CA, MTOR, CDKN1B, TSC2
8
Show member pathways
IL-2 Signaling pathway36
9.4RPS6KB1, RPS6, PIK3CA
99.3TSC2, MTOR, RHEB, PIK3CA
10
Show member pathways
IFN-gamma pathway36
9.3PIK3CA, MTOR, RAP1A
11
Show member pathways
Signaling Pathways in Glioblastoma36
9.2TSC2, TSC1, PIK3CA, MTOR, CDKN1B
129.2PIK3CA, RPS6, RPS6KB1, MTOR
13
Show member pathways
IL2 signaling events mediated by STAT536
9.2MTOR, RPS6KB1, PIK3CA, RPS6
14
Show member pathways
9.2CDKN1B, PIK3CA, TSC2, MTOR, GFAP
15
Show member pathways
Insulin Pathway36
9.1RPS6KB1, PIK3CA, EIF4EBP1
16
Show member pathways
9.1MTOR, EIF4EBP1, PIK3CA
17
Show member pathways
Development Role of HDAC and calcium calmodulin dependent kinase CaMK in control of skeletal myogenesis59
9.1PIK3CA, RHEB, RPS6KB1, MTOR, TSC2
18
Show member pathways
9.0RHEB, RPS6KA1, PIK3CA, MTOR
198.8EIF4EBP1, RAP1A, MTOR
20
Show member pathways
MAPK Cascade36
Immune response Oncostatin M signaling via MAPK in human cells59
Oncostatin M Signaling Pathway36
8.8CDKN1B, RAP1A, RPS6, MTOR
21
Show member pathways
8.7STK11, TSC1, EIF4EBP1, TSC2, RPS6KB1
22
Show member pathways
Translation Non genomic rapid action of Androgen Receptor59
8.7PIK3CA, TSC2, EIF4EBP1, MTOR, RPS6KB1
23
Show member pathways
Development Activation of ERK by Alpha 1 adrenergic receptors59
8.6TSC2, MTOR, RPS6KB1, RHEB, EIF4EBP1
248.6PIK3CA, MTOR, EIF4EBP1, RPS6
25
Show member pathways
ErbB receptor signaling network36
ErbB signaling pathway36
8.6EIF4EBP1, CDKN1B, RPS6KB1, PIK3CA, MTOR
268.5STK11, RAP1A, PIK3CA, CDKN1B, RHEB
278.5STK11, MTOR, RAP1A, TSC2, RHEB, TSC1
28
Show member pathways
8.5CDKN1B, EIF4EBP1, TSC2, TSC1, CCL26, RPS6KB1
29
Show member pathways
Cytoskeleton remodeling FAK signaling59
Development Endothelin 1 EDNRA transactivation of EGFR59
8.5RAP1A, TSC2, RHEB, PIK3CA, MTOR, RPS6KB1
30
Show member pathways
8.3TSC2, PIK3CA, CDKN1B, RAP1A, MTOR, RPS6KA1
31
Show member pathways
Prolactin Signaling Pathway36
Development Prolactin receptor signaling59
Leptin signaling pathway36
8.3EIF4EBP1, RPS6KB1, RPS6, MTOR, PIK3CA
328.3TSC1, EIF4EBP1, TSC2, MTOR, RPS6, RPS6KB1
33
Show member pathways
Signal transduction PTEN pathway59
8.3EIF4EBP1, RHEB, PIK3CA, TSC2, MTOR, RPS6KB1
348.2MTOR, EIF4EBP1, RPS6KB1, PIK3CA, TSC2, TSC1
358.1EIF4EBP1, MTOR, CDKN1B, TSC1, RPS6KB1, RHEB
368.1RPS6KB1, RPS6, MTOR, TSC2, RHEB, EIF4EBP1
378.0CDKN1B, RPS6KB1, EIF4EBP1, RPS6, MTOR, PIK3CA
38
Show member pathways
mTOR signaling pathway36
7.9MTOR, TSC2, EIF4EBP1, RPS6KB1, RHEB, RPS6KA1
397.8RPS6KA1, RPS6, RPS6KB1, PIK3CA, CDKN1B, RAP1A
40
Show member pathways
IL-9 Signaling Pathway36
Development Thrombopoietin regulated cell processes59
IL-7 Signaling Pathway36
Immune response IL 9 signaling pathway59
7.8RPS6, RPS6KB1, PIK3CA, MTOR, RPS6KA1, RAP1A
41
Show member pathways
Prostate Cancer36
Integrated Cancer pathway36
Steroid Biosynthesis36
7.7RHEB, RAP1A, TSC2, MTOR, PIK3CA, TSC1
427.6TSC1, RPS6KA1, RPS6KB1, EIF4EBP1, PIK3CA, TSC2
43
Show member pathways
7.5GFAP, TSC2, CDKN1B, TSC1, CCL26, RHEB
447.4RPS6, TSC2, MTOR, RAP1A, RPS6KB1, EIF4EBP1
45
Show member pathways
7.4TSC1, EIF4EBP1, RHEB, STK11, RPS6, RPS6KA1
46
Show member pathways
7.2MTOR, STK11, RPS6, RPS6KB1, RHEB, EIF4EBP1
476.9CDKN1B, EIF4EBP1, RPS6, RHEB, RPS6KB1, MTOR
48
Show member pathways
Transcription Receptor mediated HIF regulation59
Development CNTF receptor signaling59
Class IB PI3K non-lipid kinase events36
ErbB2/ErbB3 signaling events36
Development Growth hormone signaling via PI3K AKT and MAPK cascades59
Translation Regulation activity of EIF259
Regulation of lipid metabolism Insulin signaling generic cascades59
Transcription PPAR Pathway59
Cell adhesion PLAU signaling59
Translation Regulation activity of EIF4F59
6.8EIF4EBP1, RPS6KA1, PIK3CA, RPS6, MTOR, STK11
49
Show member pathways
Development IGF RI signaling
Immune response IL 4 signaling pathway59
Signal transduction AKT signaling59
6.8EIF4EBP1, RHEB, RPS6KB1, PIK3CA, TSC2, TSC1
50
Show member pathways
5.1CDKN1B, EIF4EBP1, RHOD, RHEB, PIK3CA, GFAP

Compounds for genes affiliated with Tuberous Sclerosis

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Compounds related to Tuberous Sclerosis according to GeneCards Suite gene sharing:

(show top 50)    (show all 80)
idCompoundScoreTop Affiliating Genes
1aicar44 24 1111.9MTOR, STK11, RPS6KB1
2brd 7389609.8RPS6KB1, RPS6KA1
3ptdins(3)p449.7PIK3CA, RPS6KB1, RHOD
4sl 0101-1609.7RPS6KB1, RPS6KA1
5bromodeoxyuridine449.6RPS6KB1, GFAP, CDKN1B, PIK3CA
6pf 4708671609.5RPS6KB1, RPS6KA1
7paraffin449.5GFAP, TSC1, STK11, TSC2, CDKN1B
8erlotinib44 50 1111.4MTOR, RPS6, CDKN1B, PIK3CA
9imatinib44 50 1111.3RPS6, CDKN1B, MTOR, PIK3CA
10guanosine44 24 1111.3TSC1, RAP1A, TSC2, RHOD
11resveratrol44 60 24 1112.2RPS6KB1, CDKN1B, PIK3CA, RPS6, MTOR
12testosterone44 60 24 1112.2CDKN1B, PKD1, TSC2, GFAP, PIK3CA, MTOR
13okadaic acid44 6010.0PIK3CA, EIF4EBP1, MTOR, TSC2, RPS6KB1
14alanine449.0CDKN1B, GSR, GFAP, TSC1, PKD1, STK11
15agar449.0CDKN1B, RAP1A, GFAP, PIK3CA
16everolimus44 50 1110.9TSC1, TSC2, PIK3CA, RPS6KB1, MTOR, EIF4EBP1
17estrogen448.9RPS6KB1, GFAP, PIK3CA, MTOR, TSC2, GSR
18dmso448.9PIK3CA, RPS6KB1, CDKN1B, EIF4EBP1
19superoxide44 249.8CCL26, RAP1A, PIK3CA, GSR, GFAP
20genistein44 28 60 1 24 1113.6CDKN1B, RPS6KB1, MTOR, RHOD, GFAP, GSR
21thymidine44 249.6RPS6, CDKN1B, RPS6KB1, GFAP, PIK3CA, RHOD
2212-o-tetradecanoylphorbol 13-acetate448.6RPS6KB1, MTOR, RAP1A, EIF4EBP1, CDKN1B
23arachidonic acid44 28 24 1111.6MTOR, PIK3CA, EIF4EBP1, RPS6KB1, RPS6
24dexamethasone44 50 28 1111.6PIK3CA, GFAP, MTOR, RPS6KB1, EIF4EBP1, CDKN1B
25glutamine448.4RPS6KB1, RAP1A, CDKN1B, GFAP, EIF4EBP1
26paclitaxel44 50 1110.4RPS6KB1, CDKN1B, EIF4EBP1, RHOD, GFAP, PIK3CA
27cisplatin44 50 60 1111.3GSR, CDKN1B, RPS6KB1, EIF4EBP1, MTOR, GFAP
28cyclic amp44 249.2CDKN1B, RHOD, RAP1A, RPS6KB1, RPS6KA1, STK11
29glutamate448.2GSR, PKD1, RHOD, RPS6KB1, RPS6KA1, CDKN1B
30gtp44 289.0RHOD, RHEB, RAP1A, RPS6, MTOR, TSC2
31adenylate448.0EIF4EBP1, PIK3CA, GFAP, STK11, GSR, RAP1A
32leucine448.0PIK3CA, GFAP, TSC2, MTOR, RPS6, RPS6KB1
33wortmannin447.7CDKN1B, PIK3CA, TSC2, MTOR, RPS6, RPS6KB1
34retinoic acid44 248.7PIK3CA, GFAP, RPS6KB1, MTOR, CDKN1B, EIF4EBP1
35arginine447.7CDKN1B, RHOD, RAP1A, GFAP, TSC2, MTOR
36pd 98,059447.5PIK3CA, TSC1, MTOR, GFAP, RPS6KA1, RPS6KB1
37calcium44 50 24 1110.3MTOR, RHOD, RAP1A, RPS6KB1, PIK3CA, GFAP
38glucose447.1MTOR, GFAP, RPS6KB1, RHEB, EIF4EBP1, CDKN1B
39glycogen44 248.1GFAP, TSC2, TSC1, STK11, MTOR, RPS6KA1
40lipid447.0RAP1A, EIF4EBP1, RHOD, PIK3CA, GFAP, TSC2
41oxygen44 247.8STK11, GFAP, TSC2, CDKN1B, EIF4EBP1, RAP1A
42atp44 287.8CDKN1B, EIF4EBP1, CCL26, MTOR, PKD1, RPS6KA1
43ly294002446.7RHOD, EIF4EBP1, CDKN1B, RAP1A, RPS6KA1, PIK3CA
44phosphoinositide446.6CDKN1B, EIF4EBP1, RHOD, TSC1, RAP1A, RPS6KB1
45vegf446.4EIF4EBP1, TSC1, CDKN1B, RHOD, RAP1A, RPS6KB1
46phosphatidylinositol446.2RHOD, EIF4EBP1, CDKN1B, RAP1A, RPS6KB1, RPS6
47rapamycin445.9RPS6KB1, RPS6, RPS6KA1, PKD1, MTOR, CDKN1B
48tyrosine445.9MTOR, CDKN1B, PIK3CA, GFAP, TSC2, TSC1
49threonine445.7PIK3CA, GFAP, CDKN1B, EIF4EBP1, RHOD, RAP1A
50serine445.3RAP1A, PIK3CA, GFAP, TSC2, TSC1, STK11

GO Terms for genes affiliated with Tuberous Sclerosis

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Cellular components related to Tuberous Sclerosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol 3-kinase complexGO:00059429.9MTOR, PIK3CA
2TSC1-TSC2 complexGO:00335969.8TSC1, TSC2
3membraneGO:00160208.8GFAP, TSC2, TSC1, STK11, MTOR, RHEB
4cytoplasmGO:00057376.1GFAP, TSC2, TSC1, STK11, MTOR, PKD1
5cytosolGO:00058294.8CDKN1B, PIK3CA, GFAP, TSC2, TSC1, STK11

Biological processes related to Tuberous Sclerosis according to GeneCards Suite gene sharing:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1activation of Rho GTPase activityGO:003286210.2TSC1, TBC1D7
2negative regulation of TOR signalingGO:003200710.2TBC1D7, TSC1, TSC2
3negative regulation of cell sizeGO:004579210.2TSC2, MTOR, TSC1
4response to glucagonGO:003376210.1STK11, RPS6KB1
5negative regulation of epithelial cell proliferation involved in prostate gland developmentGO:006077010.1STK11, CDKN1B
6protein heterooligomerizationGO:005129110.1STK11, TSC1, TSC2
7regulation of protein kinase activityGO:004585910.0TSC1, MTOR
8protein kinase B signalingGO:004349110.0TSC2, RPS6KB1, PIK3CA
9vasculature developmentGO:00019449.8STK11, PIK3CA
10fibroblast growth factor receptor signaling pathwayGO:00085439.7TSC2, CDKN1B, MTOR, PIK3CA
11Fc-epsilon receptor signaling pathwayGO:00380959.7PIK3CA, TSC2, MTOR, CDKN1B
12epidermal growth factor receptor signaling pathwayGO:00071739.7TSC2, MTOR, PIK3CA, CDKN1B
13response to amino acidGO:00432009.6CDKN1B, MTOR
14negative regulation of cell proliferationGO:00082859.6TSC2, TSC1, CDKN1B, STK11
15phosphatidylinositol-mediated signalingGO:00480159.5MTOR, TSC2, RPS6KB1, PIK3CA, CDKN1B
16positive regulation of mitotic cell cycleGO:00459319.4EIF4EBP1, RPS6KB1
17G1/S transition of mitotic cell cycleGO:00000829.2RPS6KB1, EIF4EBP1, CDKN1B
18cell cycle arrestGO:00070509.2TSC2, TSC1, STK11, PKD1, RHEB, CDKN1B
19innate immune responseGO:00450879.2PIK3CA, TSC2, MTOR, RPS6KA1, CDKN1B
20TOR signalingGO:00319299.0RPS6KB1, RPS6, MTOR, EIF4EBP1
21neurotrophin TRK receptor signaling pathwayGO:00480118.7MTOR, TSC2, RPS6KA1, RAP1A, CDKN1B, PIK3CA
22signal transductionGO:00071658.5CCL26, MTOR, RPS6KA1, RHEB, RPS6KB1, RAP1A
23insulin receptor signaling pathwayGO:00082867.6STK11, MTOR, RPS6, RPS6KB1, RHEB, TSC1

Molecular functions related to Tuberous Sclerosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein kinase activator activityGO:00302959.6STK11, PIK3CA
2protein complex bindingGO:00324039.3CDKN1B, RAP1A, STK11
3protein serine/threonine kinase activityGO:00046749.1PIK3CA, STK11, MTOR, RPS6KA1
4protein bindingGO:00055155.4CDKN1B, PIK3CA, TSC2, TSC1, STK11, MTOR

Sources for Tuberous Sclerosis

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet