MCID: TBR001
MIFTS: 91

Tuberous Sclerosis malady

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

Summaries for Tuberous Sclerosis

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42NIH Rare Diseases, 33MedlinePlus, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
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MedlinePlus:33 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: Tuberous Sclerosis, also known as tuberous sclerosis, type 1, is related to angiomyolipoma and astrocytoma, and has symptoms including corpus callosum/septum pellucidum total/partial agenesis, intracranial/cerebral calcifications and cranial hypertension. An important gene associated with Tuberous Sclerosis is TSC1 (tuberous sclerosis 1), and among its related pathways are Signaling by GPCR and PI3K-Akt signaling pathway. The compounds serine and rapamycin have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and brain, and related mouse phenotypes are cellular and cardiovascular system.

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

Description from OMIM:46 613254,191100

Aliases & Classifications for Tuberous Sclerosis

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Sources:
8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 20GeneTests, 22GTR, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH, 27ICD9CM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

48
tuberous sclerosis:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Childhood


Aliases & Descriptions:

tuberous sclerosis 8 63 42 43 10 44 48 33 60
tuberous sclerosis, type 1 42 20 22
tuberous sclerosis syndrome 8 22
tuberous sclerosis complex 42 48
tuberous sclerosis 1 42 60
bourneville syndrome 42 48
tuberose sclerosis 8 63
cerebral sclerosis 8 63
epiloia 8 63
bourneville phakomatosis 63
bourneville's syndrome 42
bourneville's disease 8
tuberous sclerosis-1 46
bourneville disease 63
sclerosis tuberosa 63


External Ids:

Disease Ontology8 DOID:13515
NCIt39 C3424
MeSH34 D014402
ICD9CM27 759.5
MESH via Orphanet35 D014402
ICD10 via Orphanet26 Q85.1
SNOMED-CT via Orphanet57 7199000
UMLS via Orphanet61 C0041341
ICD1025 Q85.1

Related Diseases for Tuberous Sclerosis

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Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Tuberous Sclerosis family:

Tuberous Sclerosis, Type 2

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

(show top 50)    (show all 245)
idRelated DiseaseScoreTop Affiliating Genes
1angiomyolipoma31.4RPS6, CCL26, MTOR, RHEB, TSC1, TSC2
2astrocytoma31.4TSC2, TSC1, GFAP, RAP1A, CDKN1B, RHOD
3lymphangioleiomyomatosis31.4TSC2, TSC1
4subependymal giant cell astrocytoma31.3MTOR, TSC1, TSC2
5tuberous sclerosis complex30.9TSC2, TSC1
6polycystic kidney disease30.8MTOR, PKD1, TSC1, TSC2
7kidney angiomyolipoma30.7MTOR, TSC1, TSC2
8chordoma30.6GFAP
9adenocarcinoma30.5RPS6KB1, CCL26, PIK3CG, PIK3CA, STK11, AKT1
10pneumothorax30.4TSC1
11melanoma30.2RPS6KA1, PIK3CG, PIK3CA, STK11, AKT1, MTOR
12polycystic kidney disease, autosomal dominant30.2MTOR, PKD1, TSC1, TSC2
13sarcoma30.2MTOR, PIK3CG
14autosomal dominant disease30.2STK11, AKT1
15ganglioglioma30.2TSC2, TSC1, GFAP
16prostate cancer30.0AKT1, PIK3CA, PIK3CG, RPS6, RPS6KB1, MTOR
17kidney cancer30.0CCL26, PIK3CA, AKT1, MTOR, RHOD, CDKN1B
18pancreatic cancer30.0RPS6KB1, PIK3CG, PIK3CA, STK11, AKT1, MTOR
19leukemia30.0RPS6KB1, PIK3CG, PIK3CA, AKT1, MTOR, CDKN1B
20epilepsy syndrome30.0CCL26, PIK3CG, GFAP, TSC1, TSC2, GSR
21medulloblastoma30.0GFAP, AKT1, PIK3CA, PIK3CG
22peutz-jeghers syndrome30.0TSC2, TSC1, MTOR, STK11
23perivascular epithelioid cell tumor30.0RHEB, TSC2
24meningioma30.0PIK3CG, GFAP, TSC1
25esophagitis30.0CCL26
26neuroblastoma30.0AKT1
27endometrial carcinoma30.0PIK3CG, PIK3CA, AKT1, MTOR
28bladder carcinoma30.0TSC1, CDKN1B
29chronic kidney failure30.0PKD1, TSC1, TSC2, GSR
30hepatitis c30.0GSR
31cystic kidney30.0TSC2, PKD1
32multiple sclerosis10.6
33renal cell carcinoma10.6
34cerebritis10.6
35hepatitis10.5
36kidney disease10.5
37pancreatitis10.5
38neurofibromatosis10.5
39giant cell tumor10.5
40retinitis10.5
41polycystic kidneys, severe infantile with tuberous sclerosis10.5
42hepatic angiomyolipoma10.4
43intracranial aneurysm10.4
44neuronitis10.4
45hepatitis a10.4
46tuberous sclerosis, type 210.4
47west syndrome10.3
48autism spectrum disorder10.3
49lymphedema10.3
50sleep disorder10.3

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



Diseases related to tuberous sclerosis

Clinical Features for Tuberous Sclerosis

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Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

613254,191100

Clinical synopsis from OMIM:

191100

Symptoms:

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

Drugs & Therapeutics for Tuberous Sclerosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Tuberous Sclerosis

Drug clinical trials:

Search ClinicalTrials for Tuberous Sclerosis

Search NIH Clinical Center for Tuberous Sclerosis

Search CenterWatch for Tuberous Sclerosis

Genetic Tests for Tuberous Sclerosis

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Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Tuberous Sclerosis:

id Genetic test Affiliating Genes
1 Tuberous Sclerosis 120 22 TSC1
2 Tuberous Sclerosis Syndrome22

Anatomical Context for Tuberous Sclerosis

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32MalaCards
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MalaCards organs/tissues related to Tuberous Sclerosis:

32
Skin, Kidney, Brain, Heart, Lung, Eye, Bone, Liver, Pancreas, Cortex, Endothelial, Smooth muscle, Testes, T cells, Fetal brain, Uterus, Small intestine, Cerebellum, Lymph node, Colon, Pancreatic islet, Temporal lobe, Testis, Prostate, Adipocyte, Ovary, Breast, Thyroid, Spinal cord, Caudate nucleus

Animal Models for Tuberous Sclerosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Tuberous Sclerosis:

36 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538411.5AKT1, STK11, PIK3CA, PIK3CG, RPS6, RPS6KB1
2MP:000538511.5GSR, RPS6KB1, PIK3CG, PIK3CA, STK11, AKT1
3MP:001076811.4MTOR, AKT1, STK11, PIK3CA, PIK3CG, RPS6KB1
4MP:000537811.4AKT1, STK11, PIK3CA, PIK3CG, RPS6KB1, MTOR
5MP:000537611.3RPS6, PIK3CG, PIK3CA, AKT1, MTOR, RHEB
6MP:000538711.2RPS6KB1, PIK3CG, PIK3CA, STK11, AKT1, MTOR
7MP:000200611.1RPS6KB1, PIK3CA, STK11, AKT1, PKD1, CDKN1B
8MP:001077111.0PIK3CG, PIK3CA, STK11, AKT1, PKD1, CDKN1B
9MP:000537011.0RPS6, STK11, AKT1, PKD1, CDKN1B, TSC1
10MP:000539711.0RPS6KB1, PIK3CG, STK11, AKT1, MTOR, PKD1
11MP:000536910.9RHEB, GFAP, TSC1
12MP:000537910.9RPS6KB1, PIK3CA, AKT1, CDKN1B
13MP:000363110.9RHEB, PKD1, RAP1A, GFAP, TSC1
14MP:000538010.9RHEB, PKD1, TSC1, TSC2
15MP:000287310.9STK11, AKT1, MTOR, RHEB, PKD1, GFAP
16MP:000536710.8MTOR, PKD1, CDKN1B, TSC1, TSC2, STK11
17MP:000538910.7RPS6KB1, PIK3CA, STK11, AKT1, CDKN1B, TSC1
18MP:000537510.6PKD1
19MP:000538610.6PIK3CA, STK11, AKT1, MTOR, CDKN1B, RAP1A

Publications for Tuberous Sclerosis

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50PubMed
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Articles related to Tuberous Sclerosis:

(show top 50)    (show all 1181)
idTitleAuthorsYear
1
Deletion of Rictor in neural progenitor cells reveals contributions of mTORC2 signaling to tuberous sclerosis complex. (23049074)
2013
2
A case of valproic acid-induced acute pancreatitis in tuberous sclerosis coexisting with end-stage renal disease. (22322816)
2013
3
Tuberous sclerosis complex without tubers and subependymal nodules: a phenotype-genotype study. (23909698)
2013
4
Video-assisted thoracoscopic surgery for recurrent pneumothorax in pulmonary lymphangioleimyomatosis with tuberous sclerosis complex. (23597154)
2013
5
Pancreatic neuroendocrine tumors in patients with tuberous sclerosis complex. (22035404)
2012
6
Topical rapamycin therapy to alleviate the cutaneous manifestations of tuberous sclerosis complex: a double-blind, randomized, controlled trial to evaluate the safety and efficacy of topically applied rapamycin. (22934754)
2012
7
Decreased language laterality in tuberous sclerosis complex: a relationship between language dominance and tuber location as well as history of epilepsy. (22980079)
2012
8
Epilepsy surgery in tuberous sclerosis: a review. (22380859)
2012
9
Thoracic computed tomographic manifestations of tuberous sclerosis in adults. (20696546)
2012
10
Rapamycin for treating Tuberous sclerosis and Autism spectrum disorders. (21115397)
2011
11
Glucose deprivation in tuberous sclerosis complex-related tumors. (22018000)
2011
12
Wunderlich's Syndrome in a Tuberous Sclerosis Patient. (22654339)
2011
13
Atypical presentation of renal angiomyolipomas in a child with tuberous sclerosis complex. (23056799)
2011
14
Two different types of infantile renal cell carcinomas associated with tuberous sclerosis. (22008361)
2011
15
Sirolimus therapy for fibromatosis and multifocal renal cell carcinoma in a child with tuberous sclerosis complex. (20108343)
2010
16
Progressive calcified tuber in a young male with tuberous sclerosis complex. (21175459)
2010
17
Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation. (20185476)
2010
18
Modulation of astrocyte glutamate transporters decreases seizures in a mouse model of Tuberous Sclerosis Complex. (20045054)
2010
19
Tuberous sclerosis complex and sphenoid meningioma. (20602053)
2010
20
Neuropsychological attention deficits in tuberous sclerosis complex (TSC). (19215038)
2009
21
A case of tuberous sclerosis complex that progressed to end-stage renal disease. (19174772)
2009
22
Magnetic resonance imaging and diffusion-weighted imaging of normal-appearing white matter in children and young adults with tuberous sclerosis complex. (19603155)
2009
23
High gamma-aminobutyric acid level in cortical tubers in epileptic infants with tuberous sclerosis complex measured with the MEGA-editing J-difference method and a three-Tesla clinical MRI Instrument. (19481612)
2009
24
Rapamycin reduces seizure frequency in tuberous sclerosis complex. (19151365)
2009
25
Epilepsy surgery and tuberous sclerosis complex: special considerations. (18759614)
2008
26
Rapamycin and tuberous sclerosis complex: from Easter Island to epilepsy. (18360828)
2008
27
Neuroimaging correlation with neurological severity in tuberous sclerosis complex. (17869556)
2008
28
Subependymal nodules, giant cell astrocytomas and the tuberous sclerosis complex: a population-based study. (18456692)
2008
29
The Birt-Hogg-Dube and tuberous sclerosis complex homologs have opposing roles in amino acid homeostasis in Schizosaccharomyces pombe. (17556368)
2007
30
Cervical chordoma in a patient with tuberous sclerosis presenting with shoulder pain. (17337935)
2007
31
Abnormal giant cells in the cerebral lesions of tuberous sclerosis complex. (17300684)
2007
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
The diverse clinical manifestations of tuberous sclerosis complex: a review. (16818173)
2006
34
Bilateral renal angiomyolipoma coexistent with pulmonary lymphangioleiomyomatosis and tuberous sclerosis. (17111084)
2006
35
The tuberous sclerosis complex. (17005952)
2006
36
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. (17120248)
2006
37
Mental retardation and relation to seizure and tuber burden in tuberous sclerosis complex. (16935530)
2006
38
Aberrant beta-catenin signaling in tuberous sclerosis. (15972957)
2005
39
Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutation. (15874888)
2005
40
Phosphorylation and functional inactivation of TSC2 by Erk implications for tuberous sclerosis and cancer pathogenesis. (15851026)
2005
41
Expression and prognostic value of tuberous sclerosis complex 2 gene product tuberin in human pancreatic cancer. (16213898)
2005
42
Expression of matrix metalloproteinases and their endogenous tissue inhibitors in skin lesions from patients with tuberous sclerosis. (15389186)
2004
43
Tumor-promoting phorbol esters and activated Ras inactivate the tuberous sclerosis tumor suppressor complex via p90 ribosomal S6 kinase. (15342917)
2004
44
United at last: the tuberous sclerosis complex gene products connect the phosphoinositide 3-kinase/Akt pathway to mammalian target of rapamycin (mTOR) signalling. (12773158)
2003
45
Tuberous sclerosis in a 19-week fetus: immunohistochemical and molecular study of hamartin and tuberin. (12202993)
2002
46
Subependymal giant cell astrocytoma associated with tuberous sclerosis exhibiting rapid regrowth after 17 years: a case report]. (10396738)
1999
47
Tuberous sclerosis complex and Wolff-Parkinson-White syndrome. (9579160)
1998
48
Long-term course of West syndrome associated with tuberous sclerosis. (9737446)
1998
49
Clinical and immunohistochemical studies of subependymal giant cell astrocytomas associated with tuberous sclerosis. (1705105)
1990
50
Histogenesis of subependymal glioma in Bourneville's tuberous sclerosis]. (2346568)
1990

Genetic Variations for Tuberous Sclerosis

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Tuberous Sclerosis:

62
id Symbol AA change Variation ID SNP ID
1TSC1p.Leu191HisVAR_009399
2TSC1p.Met224ArgVAR_009401
3TSC1p.Gln654GluVAR_009407rs75820036
4TSC1p.Ala726GluVAR_009408
5TSC1p.Thr899SerVAR_009412
6TSC1p.Leu72ProVAR_054387
7TSC1p.Arg500GlnVAR_054391
8TSC1p.Leu117ProVAR_070637
9TSC1p.Leu180ProVAR_070643

Expression for genes affiliated with Tuberous Sclerosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Tuberous Sclerosis

Search GEO for disease gene expression data for Tuberous Sclerosis.

Pathways for genes affiliated with Tuberous Sclerosis

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Sources:
53Reactome, 29KEGG, 12EMD Millipore, 37NCBI BioSystems Database, 51QIAGEN, 52R&D Systems, 49PharmGKB, 4Cell Signaling Technology, 59Tocris Bioscience
See all sources

Pathways related to Tuberous Sclerosis according to GeneCards/GeneDecks:

(show top 50)    (show all 116)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
11.2AKT1, STK11, PIK3CA, PIK3CG, RPS6KA1, RPS6
211.1PIK3CA, STK11, AKT1, MTOR, RHEB, CDKN1B
3
Translation Insulin regulation of translation
Hide members
11.1RHEB, MTOR, AKT1, STK11, PIK3CA, PIK3CG
4
Hide members
11.0GFAP, RHEB, CDKN1B, RAP1A, TSC1, TSC2
5
Hide members
11.0RPS6KB1, RPS6, RPS6KA1, PIK3CA, AKT1, MTOR
611.0TSC2, TSC1, EIF4EBP1, RPS6KB1, RPS6KA1, PIK3CG
710.9RPS6KB1, PIK3CG, PIK3CA, STK11, MTOR, EIF4EBP1
810.9EIF4EBP1, RPS6KB1, PIK3CG, AKT1, MTOR, RHEB
9
Hide members
10.9PIK3CA, STK11, MTOR, RHEB, EIF4EBP1, TSC1
10
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10.9RPS6KB1, RPS6, STK11, AKT1, MTOR, RHEB
11
Hide members
10.9CDKN1B, RAP1A, MTOR, AKT1, PIK3CA, PIK3CG
12
Hide members
10.9TSC2, CCL26, AKT1, EIF4EBP1, TSC1, PIK3CG
1310.9RPS6KB1, RPS6KA1, AKT1, MTOR, RHEB, EIF4EBP1
14
Hide members
10.9MTOR, AKT1, PIK3CA, PIK3CG, RPS6KB1, RHEB
15
Development Endothelin-1/EDNRA signaling
Hide members
10.9PIK3CG, RPS6KB1, AKT1, MTOR, RHEB, TSC2
16
Hide members
10.9MTOR, TSC1, RAP1A, EIF4EBP1, RHEB, AKT1
1710.9AKT1, RPS6KB1, PIK3CG, CDKN1B, RPS6, MTOR
1810.9TSC2, RPS6KB1, RAP1A, EIF4EBP1, RPS6, RPS6KA1
1910.9RAP1A, RPS6KB1, RPS6, RPS6KA1, AKT1, MTOR
20
Hide members
10.8CDKN1B, TSC1, TSC2, MTOR, AKT1, PIK3CA
2110.8RHEB, STK11, MTOR, RAP1A, TSC1, TSC2
22
Hide members
10.8CDKN1B, PIK3CA, PIK3CG, AKT1, MTOR, RPS6KB1
2310.8TSC2, RPS6KB1, RPS6, AKT1, MTOR, RHEB
24
Development Prolactin receptor signaling
Hide members
10.8PIK3CG, RPS6, MTOR, RPS6KB1, PIK3CA, EIF4EBP1
25
Hide members
10.8PIK3CG, RPS6KA1, EIF4EBP1, MTOR, PIK3CA, AKT1
2610.8AKT1, RPS6KB1, STK11, EIF4EBP1, TSC1, TSC2
2710.8RPS6KB1, RPS6, MTOR, EIF4EBP1, TSC1, TSC2
28
Hide members
10.8TSC2, CDKN1B, MTOR, AKT1, PIK3CA, GFAP
29
Transcription Androgen Receptor nuclear signaling
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10.8EIF4EBP1, MTOR, AKT1, PIK3CA, RPS6KB1, TSC2
3010.8PIK3CG, RPS6, MTOR, AKT1, PIK3CA, RPS6KB1
31
Hide members
10.8MTOR, AKT1, PIK3CG, RHEB, PIK3CA, RPS6KA1
3210.8STK11, RAP1A, AKT1, RHEB, CDKN1B, PIK3CA
3310.7RPS6KB1, AKT1, TSC2, TSC1, CDKN1B
3410.7TSC2, PIK3CA, AKT1, PIK3CG, TSC1
3510.7PIK3CA, RPS6KB1, CCL26, AKT1, MTOR
36
Translation Translation regulation by Alpha-1 adrenergic receptors
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10.7MTOR, TSC2, RHEB, EIF4EBP1, RPS6KB1
37
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10.7RHEB, MTOR, AKT1, PIK3CA, RPS6KB1
38
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10.7RPS6KB1, AKT1, PIK3CA, PIK3CG, RPS6KA1
39
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10.7MTOR, AKT1, RPS6KA1, PIK3CG, PIK3CA
40
Hide members
10.7RPS6KB1, AKT1, RPS6, MTOR, PIK3CA
4110.7EIF4EBP1, MTOR, AKT1, PIK3CA, PIK3CG
42
Hide members
10.7RPS6KB1, EIF4EBP1, MTOR, RPS6, RHEB
4310.7MTOR, EIF4EBP1, RPS6, PIK3CA, AKT1
44
G-protein signaling Ras family GTPases in kinase cascades (scheme)
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10.7RAP1A, CDKN1B, MTOR, AKT1, RPS6
4510.7TSC1, TSC2, MTOR, STK11
4610.7CDKN1B, RPS6KB1, AKT1, PIK3CA
4710.7PIK3CA, RPS6KB1, AKT1, EIF4EBP1
4810.7RPS6, RPS6KB1, PIK3CG, RPS6KA1
49
Hide members
10.6RAP1A, RPS6KA1, TSC2
50
Hide members
10.6STK11, RHEB, RPS6KA1

Compounds for genes affiliated with Tuberous Sclerosis

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Sources:
44Novoseek, 24HMDB, 28IUPHAR, 59Tocris Bioscience, 2BitterDB, 11DrugBank, 49PharmGKB
See all sources

Compounds related to Tuberous Sclerosis according to GeneCards/GeneDecks:

(show top 50)    (show all 105)
idCompoundScoreTop Affiliating Genes
1serine4411.7TSC2, TSC1, GFAP, RAP1A, EIF4EBP1, CDKN1B
2rapamycin4411.7RPS6KB1, RPS6, RPS6KA1, CCL26, PIK3CG, PIK3CA
3threonine4411.7STK11, PIK3CA, PIK3CG, RPS6KA1, RPS6, RPS6KB1
4tyrosine4411.6RPS6, RPS6KB1, RPS6KA1, AKT1, MTOR, RHOD
5phosphatidylinositol4411.6RPS6KB1, RPS6KA1, PIK3CG, PIK3CA, RPS6, TSC2
6vegf4411.6CDKN1B, RHOD, MTOR, AKT1, STK11, PIK3CA
7glycogen44 2412.6MTOR, CDKN1B, EIF4EBP1, GFAP, TSC1, TSC2
8phosphoinositide4411.5TSC2, RPS6KB1, RHEB, RPS6KA1, PIK3CG, PIK3CA
9ly2940024411.5RPS6KB1, TSC2, RAP1A, EIF4EBP1, CDKN1B, RHOD
10atp44 2812.5CCL26, GFAP, EIF4EBP1, CDKN1B, TSC2, PKD1
11lipid4411.5PIK3CG, GSR, GFAP, RPS6KB1, RAP1A, MTOR
12pd 98,0594411.4TSC1, GFAP, EIF4EBP1, CDKN1B, RHOD, MTOR
13oxygen44 2412.4EIF4EBP1, CDKN1B, GSR, RHOD, CCL26, TSC2
14wortmannin4411.4PIK3CA, TSC2, PIK3CG, AKT1, MTOR, RHOD
15arginine4411.3RHOD, MTOR, AKT1, PIK3CA, TSC2, GSR
16retinoic acid44 2412.3RPS6KB1, RPS6, RPS6KA1, MTOR, AKT1, PIK3CG
17glucose4411.3STK11, AKT1, CDKN1B, RHEB, TSC1, TSC2
18genistein44 28 59 2 11 2416.3AKT1, MTOR, GFAP, GSR, PIK3CA, CDKN1B
19adenylate4411.3STK11, EIF4EBP1, GFAP, AKT1, TSC2, GSR
20paclitaxel44 49 1113.3CDKN1B, RPS6KB1, PIK3CG, PIK3CA, AKT1, RHOD
21gtp44 2812.2RAP1A, RHOD, TSC2, MTOR, RHEB, AKT1
22cisplatin44 49 59 1114.2RPS6KB1, GSR, MTOR, PIK3CA, GFAP, AKT1
23leucine4411.2RPS6, EIF4EBP1, RPS6KB1, MTOR, GFAP, PIK3CA
24glutamine4411.1RAP1A, GFAP, EIF4EBP1, CDKN1B, AKT1, PIK3CG
25everolimus49 44 1113.1EIF4EBP1, PIK3CA, PIK3CG, MTOR, RPS6KB1
26ptdins(3)p4411.1PIK3CG, AKT1, PIK3CA, RPS6KB1, RHOD
27cyclic amp44 2412.1RPS6KB1, RPS6KA1, GFAP, RAP1A, CDKN1B, RHOD
28guanosine44 11 2413.1RAP1A, RHOD, TSC2, TSC1, AKT1
29n acetylcysteine4411.1EIF4EBP1, GSR, CDKN1B, PIK3CG, RPS6, AKT1
30gefitinib44 49 1113.1CDKN1B, MTOR, PIK3CA, PIK3CG, AKT1
31glutamate4411.0PKD1, RHOD, RPS6KA1, GFAP
32h2o24411.0EIF4EBP1, GSR, RPS6KB1, PIK3CG, PIK3CA, AKT1
33aicar44 11 2413.0RPS6KB1, STK11, AKT1, MTOR
34inositol4411.0PIK3CA, GFAP, RHOD, AKT1, PIK3CG
35doxorubicin44 49 1113.0PIK3CG, PIK3CA, AKT1, MTOR, GSR, CDKN1B
36anisomycin44 1112.0MTOR, EIF4EBP1, RPS6KB1
37erlotinib44 49 1113.0RPS6, PIK3CA, MTOR, CDKN1B
38quercetin44 59 11 2414.0GSR, PIK3CA, AKT1, PIK3CG, GFAP
39resveratrol44 59 11 2413.9RPS6KB1, RPS6
40pkcs4410.9PIK3CG, RPS6KB1, PKD1, AKT1
41matrigel4410.9AKT1, MTOR, RHOD
42imatinib44 49 1112.9CDKN1B, MTOR, PIK3CA, RPS6, PIK3CG
43actinomycin d4410.9RPS6KB1, EIF4EBP1, PIK3CG, PIK3CA, AKT1, CDKN1B
44testosterone44 59 11 2413.9PIK3CA, TSC2, GFAP, CDKN1B, AKT1, MTOR
45estrogen4410.9GFAP
46arsenite44 2411.8PIK3CG, PIK3CA, AKT1, MTOR, GSR
47paraffin4410.7TSC2, GFAP, TSC1, CDKN1B, AKT1, STK11
482-deoxyglucose44 1111.7AKT1, PIK3CG, STK11, RPS6KB1
49phenylephrine44 28 11 2413.7EIF4EBP1, PIK3CG, AKT1, RPS6KB1
50metformin44 49 1112.4AKT1, STK11, PIK3CA, PIK3CG

GO Terms for genes affiliated with Tuberous Sclerosis

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Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00582911.4GSR, RPS6KB1, RPS6, RPS6KA1, PIK3CG, PIK3CA
2cytoplasmGO:00573711.2AKT1, STK11, PIK3CG, RPS6KA1, RPS6, RPS6KB1
3membraneGO:01602010.7PIK3CG, STK11, MTOR, RHEB, GFAP, TSC1
4phosphatidylinositol 3-kinase complexGO:00594210.6MTOR, PIK3CA
5TSC1-TSC2 complexGO:03359610.3TSC2, TSC1

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

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1insulin receptor signaling pathwayGO:00828611.3TSC2, RPS6KB1, RPS6, PIK3CA, STK11, AKT1
2neurotrophin TRK receptor signaling pathwayGO:04801111.2RPS6KA1, PIK3CA, AKT1, MTOR, CDKN1B, RAP1A
3innate immune responseGO:04508711.1RPS6KA1, PIK3CG, PIK3CA, AKT1, MTOR, CDKN1B
4cell cycle arrestGO:00705011.1STK11, RHEB, PKD1, CDKN1B, TSC1, TSC2
5phosphatidylinositol-mediated signalingGO:04801511.1RPS6KB1, PIK3CA, AKT1, MTOR, CDKN1B, TSC2
6signal transductionGO:00716511.1RPS6KB1, RPS6KA1, CCL26, AKT1, MTOR, RHEB
7fibroblast growth factor receptor signaling pathwayGO:00854311.1PIK3CA, AKT1, MTOR, CDKN1B, TSC2
8negative regulation of cell sizeGO:04579211.0AKT1, MTOR, TSC1, TSC2
9Fc-epsilon receptor signaling pathwayGO:03809511.0PIK3CA, AKT1, MTOR, CDKN1B, TSC2
10TOR signaling cascadeGO:03192911.0EIF4EBP1, MTOR, RPS6, RPS6KB1
11epidermal growth factor receptor signaling pathwayGO:00717311.0PIK3CA, AKT1, MTOR, CDKN1B, TSC2
12protein kinase B signaling cascadeGO:04349111.0TSC2, AKT1, PIK3CA, RPS6KB1
13cell projection organizationGO:03003010.9TSC2, TSC1, AKT1
14germ cell developmentGO:00728110.9MTOR, AKT1, RPS6KB1
15protein heterooligomerizationGO:05129110.9STK11, TSC1, TSC2
16platelet activationGO:03016810.9PIK3CG, PIK3CA, AKT1, RAP1A
17peptidyl-serine phosphorylationGO:01810510.9PKD1, MTOR, AKT1
18response to glucagon stimulusGO:03376210.8STK11, RPS6KB1
19T cell costimulationGO:03129510.8PIK3CA, AKT1, MTOR
20negative regulation of epithelial cell proliferation involved in prostate gland developmentGO:06077010.8CDKN1B, STK11
21positive regulation of lipid biosynthetic processGO:04688910.7AKT1, MTOR
22positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycGO:03165910.6AKT1, PKD1
23negative regulation of apoptotic processGO:04306610.6RPS6KB1, RPS6KA1, PIK3CG, AKT1, CDKN1B
24insulin-like growth factor receptor signaling pathwayGO:04800910.6TSC2, AKT1
25regulation of glycogen biosynthetic processGO:00597910.6AKT1, MTOR
26glucose homeostasisGO:04259310.3AKT1, STK11, RPS6

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551511.4STK11, PIK3CA, PIK3CG, RPS6KA1, RPS6, RPS6KB1
2protein serine/threonine kinase activityGO:00467411.0MTOR, AKT1, STK11, PIK3CA, PIK3CG, RPS6KA1
3kinase activityGO:01630110.8MTOR, AKT1, PIK3CA
4phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:04693410.7PIK3CG, PIK3CA
5phosphatidylinositol 3-kinase activityGO:03500410.6PIK3CG, PIK3CA
614-3-3 protein bindingGO:07188910.6TSC2, AKT1
71-phosphatidylinositol-4-phosphate 3-kinase activityGO:03500510.6PIK3CA, PIK3CG
8ATP bindingGO:00552410.5RPS6KB1, RPS6KA1, PIK3CG, PIK3CA, STK11, AKT1
91-phosphatidylinositol-3-kinase activityGO:01630310.5PIK3CA, PIK3CG

Products for genes affiliated with Tuberous Sclerosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tuberous Sclerosis

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet