MCID: TBR001
MIFTS: 81

Tuberous Sclerosis malady

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

Summaries for Tuberous Sclerosis

Sources:
43NIH Rare Diseases, 34MedlinePlus, 44NINDS, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

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MedlinePlus:34 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 tuberous sclerosis complex and angiomyolipoma, and has symptoms including prominent occiput/occipital bossing, follicular/erythematous/edematous papules/milium and cutaneous neurofibromas/facial angiofibromas/koenen tumors. 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 whole blood, lymph node and brain, and related mouse phenotypes are cellular and cardiovascular system.

NIH Rare Diseases:43 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:44 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...

Description from OMIM:47 613254,191100

Aliases & Classifications for Tuberous Sclerosis

Sources:
8Disease Ontology, 64Wikipedia, 43NIH Rare Diseases, 44NINDS, 10DISEASES, 45Novoseek, 49Orphanet, 34MedlinePlus, 61UMLS, 22GTR, 20GeneTests, 47OMIM, 40NCIt, 57SNOMED-CT, 35MeSH, 27ICD9CM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Cancer
Anatomical: Neuronal, Eye, Cardiovascular, Nephrological, Skin


Characteristics (Orphanet epidemiological data):

49
tuberous sclerosis:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Childhood


Aliases & Descriptions:

tuberous sclerosis 8 64 43 44 10 45 49 34 61
tuberous sclerosis, type 1 43 20 22
tuberous sclerosis syndrome 8 22
tuberous sclerosis complex 43 49
tuberous sclerosis 1 43 61
bourneville syndrome 43 49
tuberose sclerosis 8 64
cerebral sclerosis 8 64
epiloia 8 64
bourneville phakomatosis 64
bourneville's syndrome 43
bourneville's disease 8
tuberous sclerosis-1 47
bourneville disease 64
sclerosis tuberosa 64


External Ids:

Disease Ontology8 DOID:13515
NCIt40 C3424
MeSH35 D014402
ICD9CM27 759.5
MESH via Orphanet36 D014402
ICD10 via Orphanet26 Q85.1
SNOMED-CT via Orphanet58 7199000
UMLS via Orphanet62 C0041341
ICD1025 Q85.1

Related Diseases for Tuberous Sclerosis

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 244)
idRelated DiseaseScoreTop Affiliating Genes
1tuberous sclerosis complex32.1TSC2, TSC1
2angiomyolipoma31.5RPS6, CCL26, MTOR, RHEB, TSC1, TSC2
3astrocytoma31.5TSC2, TSC1, GFAP, RAP1A, CDKN1B, RHOD
4lymphangioleiomyomatosis31.4TSC2, TSC1
5subependymal giant cell astrocytoma31.4MTOR, TSC1, TSC2
6polycystic kidney disease30.8MTOR, PKD1, TSC1, TSC2
7adenocarcinoma30.5RPS6KB1, CCL26, PIK3CG, PIK3CA, STK11, AKT1
8mental retardation30.5CCL26, AKT1, MTOR, RHOD, TSC1, TSC2
9polycystic kidney disease, autosomal dominant30.3MTOR, PKD1, TSC1, TSC2
10autosomal dominant disease30.3STK11, AKT1
11ganglioglioma30.3TSC2, TSC1, GFAP
12peutz-jeghers syndrome30.0TSC2, TSC1, MTOR, STK11
13perivascular epithelioid cell tumor30.0RHEB, TSC2
14bladder carcinoma30.0TSC1, CDKN1B
15hepatitis c30.0GSR
16neurofibromatosis10.5
17n syndrome10.5
18polycystic kidneys, severe infantile with tuberous sclerosis10.5
19hepatic angiomyolipoma10.5
20cutaneous sclerosis10.5
21hemimegalencephaly10.5
22intracranial aneurysm10.4
23weber syndrome10.4
24sturge-weber syndrome10.4
25tuberous sclerosis, type 210.4
26west syndrome10.3
27autism spectrum disorder10.3
28sleep disorder10.3
29gigantism10.3
30autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis10.3
31wolff-parkinson-white syndrome10.3
32lateral sclerosis10.3
33protein s deficiency10.3
34lymphedema, congenital10.3
35megalencephaly10.3
36tsc2 angiomyolipomas, renal, modifier of10.3
37atypical autism10.2
38papillary carcinoma10.2
39renal clear cell carcinoma10.2
40lennox-gastaut syndrome10.2
41spina bifida10.2
42subependymal glioma10.2
43ventricular septal defect10.2
44birt–hogg–dubé syndrome10.2
45arachnoid cysts10.2
46clear cell renal cell carcinoma10.2
47spina bifida occulta10.2
48kid syndrome10.2
49spontaneous pneumothorax10.2
50birt-hogg-dub� syndrome10.2

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



Diseases related to tuberous sclerosis

Clinical Features for Tuberous Sclerosis

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

613254,191100

Clinical synopsis from OMIM:

191100

Symptoms:

49 (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

Drugs & Therapeutics for Tuberous Sclerosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Tuberous Sclerosis:

33
Whole blood, Lymph node, Brain, Cortex, Cerebellum, Spinal cord, Heart, Smooth muscle, Small intestine, Colon, Adipocyte, Kidney, Liver, Lung, Pancreas, Thyroid, Breast, Skin, Ovary, Uterus, Prostate, Testis, T cells, B cells, Endothelial, Fetal brain, Temporal lobe, Caudate nucleus, Fetal liver, Fetal lung, Fetal thyroid, Pancreatic islet, Adrenal cortex, Uterus corpus, Testis germ, Testis leydig

Animal Models for Tuberous Sclerosis or affiliated genes

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

MGI Mouse Phenotypes related to Tuberous Sclerosis:

37 (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

Sources:
51PubMed
See all sources

Articles related to Tuberous Sclerosis:

(show top 50)    (show all 1186)
idTitleAuthorsYear
1
Mutational analyses of the TSC1 and TSC2 genes in cases of tuberous sclerosis complex in Chinese Han children. (23661441)
2013
2
I+-[11C]-Methyl-L-tryptophan--PET in 191 patients with tuberous sclerosis complex. (23851963)
2013
3
Trends in the prevalence of tuberous sclerosis complex manifestations: an epidemiological study of 166 Japanese patients. (23691114)
2013
4
Vigabatrin-related magnetic resonance imaging abnormalities in an infant with tuberous sclerosis complex and infantile spasms. (22979977)
2013
5
Everolimus treatment of refractory epilepsy in tuberous sclerosis complex. (23798472)
2013
6
T2 weighted MRI for assessing renal lesions in transgenic mouse models of tuberous sclerosis. (21802234)
2012
7
Neurology: Letter to the editor. Re: Sun P, Kohrman M, Liu J et al. Outcomes of resecting subependymal giant cell astrocytoma (SEGA) among patients with SEGA-related tuberous sclerosis complex: a national claims database analysis. Curr Med Res Opin 2012;28:657-63. (22876836)
2012
8
An unusual case of congenital melanocytic nevus presenting as neurocutaneous melanoma coexisting with Tuberous Sclerosis complex: A case report. (21722368)
2011
9
Characterizing sleep disorders of adults with tuberous sclerosis complex: a questionnaire-based study and review. (21130696)
2011
10
Histologic variants of periungual fibromas in tuberous sclerosis complex. (21238836)
2011
11
Epilepsy secondary to tuberous sclerosis: lessons learned and current challenges. (20358377)
2010
12
Tuberous sclerosis complex: linking cancer to metabolism. (20605525)
2010
13
Echocardiographic screening results in patients with tuberous sclerosis complex. (20548802)
2010
14
Endocrine tumours in neurofibromatosis type 1, tuberous sclerosis and related syndromes. (20833335)
2010
15
Prevalence of tuberous sclerosis complex in Taiwan: a national population-based study. (19887839)
2009
16
Rapamycin as a therapy of choice after renal transplantation in a patient with tuberous sclerosis complex. (19917366)
2009
17
Giant cell astrocytomas in tuberous sclerosis complex. (19103791)
2009
18
Renal and liver tumors in Tsc2(+/-) mice, a model of tuberous sclerosis complex, do not respond to treatment with atorvastatin, a 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitor. (19584242)
2009
19
Malignant epithelioid angiomyolipoma of the kidney in a patient with tuberous sclerosis: an autopsy case report with p53 gene mutation analysis. (18547741)
2008
20
Tuberous sclerosis complex proteins control axon formation. (18794346)
2008
21
Polymerized collagen inhibits fibroblast proliferation via a mechanism involving the formation of a beta1 integrin-protein phosphatase 2A-tuberous sclerosis complex 2 complex that suppresses S6K1 activity. (18487611)
2008
22
Clinical presentation and diagnosis of tuberous sclerosis complex in infancy. (18230839)
2008
23
Tuberous sclerosis with bilateral renal angiomyolipoma and wunderlich's syndrome. (18070586)
2007
24
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. (17304050)
2007
25
Sudden unexpected death in childhood associated with cardiac rhabdomyoma, involuting adrenal ganglioneuroma, and megalencephaly: another expression of tuberous sclerosis? (17378684)
2007
26
Anomalous inhibitory circuits in cortical tubers of human tuberous sclerosis complex associated with refractory epilepsy: aberrant expression of parvalbumin and calbindin-D28k in dysplastic cortex. (17156698)
2006
27
Study of the relationship between tuberous sclerosis complex and autistic disorder. (16901420)
2006
28
The neurobiology of tuberous sclerosis complex. (16818174)
2006
29
Effect of melatonin dosage on sleep disorder in tuberous sclerosis complex. (15791928)
2005
30
Tuberous sclerosis and the kidney: from mesenchyme to epithelium, and beyond. (15856327)
2005
31
Phosphorylation of tuberin as a novel mechanism for somatic inactivation of the tuberous sclerosis complex proteins in brain lesions. (14871804)
2004
32
Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant. (15007723)
2004
33
Mutation spectrum of the 9q34 tuberous sclerosis gene TSC1 in transitional cell carcinoma of the bladder. (14633685)
2003
34
Renal manifestations of tuberous sclerosis complex. (14593316)
2003
35
Malignant pancreatic endocrine tumor in a child with tuberous sclerosis. (14508401)
2003
36
Care of adolescents with severe learning disability from tuberous sclerosis. (11995894)
2002
37
Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis. (12112044)
2002
38
The tuberous sclerosis 2 gene product can localize to nuclei in a phosphorylation-dependent manner. (11703097)
2001
39
Pancytopenia in tuberous sclerosis. (11386023)
2001
40
High frequency of pulmonary lymphangioleiomyomatosis in women with tuberous sclerosis complex. (10852420)
2000
41
CD44 expression in tuberous sclerosis. (10878505)
2000
42
A comparison of cell phenotypes in hemimegalencephaly and tuberous sclerosis. (10502047)
1999
43
Tuberous sclerosis, von Hippel-Lindau disease, Sturge-Weber syndrome. (9722352)
1998
44
Hemimegalencephaly and focal megalencephaly in tuberous sclerosis complex. (9874550)
1998
45
Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles. (9809973)
1998
46
Giant cells in cortical tubers in tuberous sclerosis showing synaptophysin-immunoreactive halos. (9071486)
1997
47
Loss of tuberin from cerebral tissues with tuberous sclerosis and astrocytoma. (9007104)
1996
48
Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions. (8755927)
1996
49
Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1). (8386250)
1993
50
Primary localized gigantism and tuberous sclerosis. (7138041)
1982

Genetic Variations for Tuberous Sclerosis

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Tuberous Sclerosis:

63
id Symbol AA change Variation SNP ID
1TSC1p.Gln654GluVAR_009407rs75820036
2TSC1p.Ala726GluVAR_009408
3TSC1p.Thr899SerVAR_009412
4TSC1p.Leu72ProVAR_054387
5TSC1p.Arg500GlnVAR_054391

Expression for genes affiliated with Tuberous Sclerosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 30KEGG, 12EMD Millipore, 38NCBI BioSystems Database, 52QIAGEN, 53R&D Systems, 50PharmGKB, 4Cell Signaling Technology, 60Tocris 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
Hide members
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
Hide members
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
Hide members
10.7MTOR, TSC2, RHEB, EIF4EBP1, RPS6KB1
37
Hide members
10.7RHEB, MTOR, AKT1, PIK3CA, RPS6KB1
38
Hide members
10.7RPS6KB1, AKT1, PIK3CA, PIK3CG, RPS6KA1
39
Hide members
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)
Hide members
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

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 60Tocris Bioscience, 2BitterDB, 11DrugBank, 50PharmGKB
See all sources

Compounds related to Tuberous Sclerosis according to GeneCards/GeneDecks:

(show top 50)    (show all 105)
idCompoundScoreTop Affiliating Genes
1serine4511.7TSC2, TSC1, GFAP, RAP1A, EIF4EBP1, CDKN1B
2rapamycin4511.7RPS6KB1, RPS6, RPS6KA1, CCL26, PIK3CG, PIK3CA
3threonine4511.7STK11, PIK3CA, PIK3CG, RPS6KA1, RPS6, RPS6KB1
4tyrosine4511.6RPS6, RPS6KB1, RPS6KA1, AKT1, MTOR, RHOD
5phosphatidylinositol4511.6RPS6KB1, RPS6KA1, PIK3CG, PIK3CA, RPS6, TSC2
6vegf4511.6CDKN1B, RHOD, MTOR, AKT1, STK11, PIK3CA
7glycogen45 2412.6MTOR, CDKN1B, EIF4EBP1, GFAP, TSC1, TSC2
8phosphoinositide4511.5TSC2, RPS6KB1, RHEB, RPS6KA1, PIK3CG, PIK3CA
9ly2940024511.5RPS6KB1, TSC2, RAP1A, EIF4EBP1, CDKN1B, RHOD
10atp45 2912.5CCL26, GFAP, EIF4EBP1, CDKN1B, TSC2, PKD1
11lipid4511.5PIK3CG, GSR, GFAP, RPS6KB1, RAP1A, MTOR
12pd 98,0594511.4TSC1, GFAP, EIF4EBP1, CDKN1B, RHOD, MTOR
13oxygen45 2412.4EIF4EBP1, CDKN1B, GSR, RHOD, CCL26, TSC2
14wortmannin4511.4PIK3CA, TSC2, PIK3CG, AKT1, MTOR, RHOD
15arginine4511.3RHOD, MTOR, AKT1, PIK3CA, TSC2, GSR
16retinoic acid45 2412.3RPS6KB1, RPS6, RPS6KA1, MTOR, AKT1, PIK3CG
17glucose4511.3STK11, AKT1, CDKN1B, RHEB, TSC1, TSC2
18genistein45 29 60 2 11 2416.3AKT1, MTOR, GFAP, GSR, PIK3CA, CDKN1B
19adenylate4511.3STK11, EIF4EBP1, GFAP, AKT1, TSC2, GSR
20paclitaxel45 50 1113.3CDKN1B, RPS6KB1, PIK3CG, PIK3CA, AKT1, RHOD
21gtp45 2912.2RAP1A, RHOD, TSC2, MTOR, RHEB, AKT1
22cisplatin45 50 60 1114.2RPS6KB1, GSR, MTOR, PIK3CA, GFAP, AKT1
23leucine4511.2RPS6, EIF4EBP1, RPS6KB1, MTOR, GFAP, PIK3CA
24glutamine4511.1RAP1A, GFAP, EIF4EBP1, CDKN1B, AKT1, PIK3CG
25everolimus50 45 1113.1EIF4EBP1, PIK3CA, PIK3CG, MTOR, RPS6KB1
26ptdins(3)p4511.1PIK3CG, AKT1, PIK3CA, RPS6KB1, RHOD
27cyclic amp45 2412.1RPS6KB1, RPS6KA1, GFAP, RAP1A, CDKN1B, RHOD
28guanosine45 11 2413.1RAP1A, RHOD, TSC2, TSC1, AKT1
29n acetylcysteine4511.1EIF4EBP1, GSR, CDKN1B, PIK3CG, RPS6, AKT1
30gefitinib45 50 1113.1CDKN1B, MTOR, PIK3CA, PIK3CG, AKT1
31glutamate4511.0PKD1, RHOD, RPS6KA1, GFAP
32h2o24511.0EIF4EBP1, GSR, RPS6KB1, PIK3CG, PIK3CA, AKT1
33aicar45 11 2413.0RPS6KB1, STK11, AKT1, MTOR
34inositol4511.0PIK3CA, GFAP, RHOD, AKT1, PIK3CG
35doxorubicin45 50 1113.0PIK3CG, PIK3CA, AKT1, MTOR, GSR, CDKN1B
36anisomycin45 1112.0MTOR, EIF4EBP1, RPS6KB1
37erlotinib45 50 1113.0RPS6, PIK3CA, MTOR, CDKN1B
38quercetin45 60 11 2414.0GSR, PIK3CA, AKT1, PIK3CG, GFAP
39resveratrol45 60 11 2413.9RPS6KB1, RPS6
40pkcs4510.9PIK3CG, RPS6KB1, PKD1, AKT1
41matrigel4510.9AKT1, MTOR, RHOD
42imatinib45 50 1112.9CDKN1B, MTOR, PIK3CA, RPS6, PIK3CG
43actinomycin d4510.9RPS6KB1, EIF4EBP1, PIK3CG, PIK3CA, AKT1, CDKN1B
44testosterone45 60 11 2413.9PIK3CA, TSC2, GFAP, CDKN1B, AKT1, MTOR
45estrogen4510.9GFAP
46arsenite45 2411.8PIK3CG, PIK3CA, AKT1, MTOR, GSR
47paraffin4510.7TSC2, GFAP, TSC1, CDKN1B, AKT1, STK11
482-deoxyglucose45 1111.7AKT1, PIK3CG, STK11, RPS6KB1
49phenylephrine45 29 11 2413.7EIF4EBP1, PIK3CG, AKT1, RPS6KB1
50metformin45 50 1112.4AKT1, STK11, PIK3CA, PIK3CG

GO Terms for genes affiliated with Tuberous Sclerosis

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tuberous Sclerosis

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