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

About this section
Sources:
42NIH Rare Diseases, 33MedlinePlus, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 retinal hamartoma, pedunculated skin lesions and ungual/paraungual fibromas (fingernails). 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 threonine 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

About this section
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

About this section
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

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

613254,191100

Clinical synopsis from OMIM:

191100

Symptoms:

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

Drugs & Therapeutics for Tuberous Sclerosis

About this section
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

About this section
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

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Tuberous Sclerosis:

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

Animal Models for Tuberous Sclerosis or affiliated genes

About this section
Sources:
36MGI
See all sources

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

About this section
Sources:
50PubMed
See all sources

Articles related to Tuberous Sclerosis:

(show top 50)    (show all 1181)
idTitleAuthorsYear
1
Topical rapamycin for angiofibromas in paediatric patients with tuberous sclerosis: Follow up of a pilot study and promising future directions. (24359523)
2014
2
Timing and clinical characteristics of topiramate-induced psychosis in a patient with epilepsy and tuberous sclerosis. (24434533)
2014
3
Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation. (22805177)
2013
4
Hemispherectomy: When half is better than the whole. Tuberous sclerosis complex. (23599955)
2013
5
Bilateral renal cell carcinoma in a paediatric patient with tuberous sclerosis complex. (23853020)
2013
6
Reduced juvenile long-term depression in tuberous sclerosis complex is mitigated in adults by compensatory recruitment of mGluR5 and Erk signaling. (23966835)
2013
7
Trends in the prevalence of tuberous sclerosis complex manifestations: an epidemiological study of 166 Japanese patients. (23691114)
2013
8
Tuberous sclerosis complex regulates Drosophila neuromuscular junction growth via the TORC2/Akt pathway. (23393158)
2013
9
Unusual presentation of extracardiac fetal rhabdomyoma of the larynx in a pediatric patient with tuberous sclerosis. (22497684)
2013
10
Altered inhibition in tuberous sclerosis and type IIb cortical dysplasia. (22447678)
2012
11
Genotype and cognitive phenotype of patients with tuberous sclerosis complex. (22189265)
2012
12
Molecular therapies for tuberous sclerosis and neurofibromatosis. (22544507)
2012
13
Facial angiofibromas in a mosaic pattern tuberous sclerosis: A case report. (22863630)
2012
14
Epilepsy in Tuberous Sclerosis Complex. (23250840)
2012
15
Facial unilateral angiofibromas: a postzygotic tuberous sclerosis like mutation. (22016299)
2011
16
The morphologic spectrum of uterine PEC-cell associated tumors in a patient with tuberous sclerosis. (21293289)
2011
17
Tuberous sclerosis and cardiac rhabdomyomas: a case report and review of the literature. (21418539)
2011
18
Tuberous sclerosis (Bourneville disease). (21751647)
2011
19
Consequences of interrupted Rheb-to-AMPK feedback signaling in tuberous sclerosis complex and cancer. (22145093)
2011
20
Traumatic rupture of bilateral huge renal angiomyolipomas in tuberous sclerosis complex. (20699763)
2010
21
Diffusion tensor imaging identifies changes in normal-appearing white matter within the epileptogenic zone in tuberous sclerosis complex. (20129760)
2010
22
Tuberous sclerosis complex: neurological, renal and pulmonary manifestations. (21210335)
2010
23
Tuberous sclerosis complex: linking cancer to metabolism. (20605525)
2010
24
Vascular involvement in tuberous sclerosis. (20229188)
2010
25
AMP-activated protein kinase inhibits IGF-I signaling and protein synthesis in vascular smooth muscle cells via stimulation of insulin receptor substrate 1 S794 and tuberous sclerosis 2 S1345 phosphorylation. (20363874)
2010
26
Tuberous sclerosis complex (TSC) and Klippel-Trenaunay-Weber (KTW) syndromes association of two complete phakomatoses in a single individual. (21280434)
2010
27
Liver transplantation for multiple angiomyolipomas complicating tuberous sclerosis complex. (20674202)
2010
28
Balloon cells in human cortical dysplasia and tuberous sclerosis: isolation of a pathological progenitor-like cell. (20352236)
2010
29
Prenatal diagnosis of cardiac rhabdomyomas: incidence of associated cerebral lesions of tuberous sclerosis complex. (19606448)
2009
30
Role of mutational analysis in diagnosis of tuberous sclerosis complex. (19250385)
2009
31
Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex. (19332694)
2009
32
"Malignant" uterine perivascular epithelioid cell tumor, pelvic lymph node lymphangioleiomyomatosis, and gynecological pecomatosis in a patient with tuberous sclerosis: a case report and review of the literature. (18156981)
2008
33
Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis. (18184959)
2008
34
Epilepsy surgery for tuberous sclerosis complex: a case report and literature review. (18706214)
2008
35
Cognitive impairment in tuberous sclerosis complex is a multifactorial condition. (18032744)
2008
36
Combined nephrectomy and pre-emptive renal transplantation in a tuberous sclerosis patient with angiomyolipoma, renal carcinoma and life-threatening abdominal haemorrhages. (17717027)
2007
37
Tuberous sclerosis complex and epilepsy: recent developments and future challenges. (17386056)
2007
38
Angiofibroma of the tricuspid valve: a rare presentation of the tuberous sclerosis complex? (16953170)
2006
39
The importance of comprehensive assessment for cognitive and behavioral problems in tuberous sclerosis complex. (16876484)
2006
40
Expression profiling in tuberous sclerosis complex (TSC) knockout mouse astrocytes to characterize human TSC brain pathology. (14999811)
2004
41
Renal angiomyolipoma in Japanese tuberous sclerosis patients. (15616929)
2004
42
An epidemiological study of renal pathology in tuberous sclerosis complex. (15476522)
2004
43
Rap1 activity is elevated in malignant astrocytomas independent of tuberous sclerosis complex-2 gene expression. (12469204)
2003
44
Care of adolescents with severe learning disability from tuberous sclerosis. (11995894)
2002
45
High frequency of pulmonary lymphangioleiomyomatosis in women with tuberous sclerosis complex. (10852420)
2000
46
Tuberous sclerosis, von Hippel-Lindau disease, Sturge-Weber syndrome. (9722352)
1998
47
Tuberous sclerosis complex: neonatal deaths in three of four children of consanguineous, non-expressing parents. (9132502)
1997
48
Aniridia in a patient with tuberous sclerosis. (9422940)
1997
49
Ruptured hepatic angiolipoma in tuberous sclerosis complex. (8717168)
1996
50
Neuroblastoma, tuberous sclerosis, and subependymal giant cell astrocytoma. (6614397)
1983

Genetic Variations for Tuberous Sclerosis

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

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

About this section
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

About this section
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
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

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

GO Terms for genes affiliated with Tuberous Sclerosis

About this section
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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tuberous Sclerosis

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet