MCID: TBR001
MIFTS: 70

Tuberous Sclerosis

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Tuberous Sclerosis

MalaCards integrated aliases for Tuberous Sclerosis:

Name: Tuberous Sclerosis 12 74 52 53 54 42 43 15 39 71 32
Tuberous Sclerosis Syndrome 12 29 6
Bourneville's Disease 12 74
Tuberous Sclerosis 1 52 71
Tuberous Sclerosis Complex 52
Tuberose Sclerosis 12
Cerebral Sclerosis 12
Epiloia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:13515
ICD9CM 34 759.5
MeSH 43 D014402
NCIt 49 C3424
SNOMED-CT 67 7199000
ICD10 32 Q85.1
UMLS 71 C0041341 C1854465

Summaries for Tuberous Sclerosis

NINDS : 53 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. It usually affects the central nervous system. In addition to the benign tumors that frequently occur in TSC, other common symptoms include seizures,impaired intellectual development, behavior problems, and skin abnormalities. TSC may be present at birth, but signs of the disorder can be subtle and full symptoms may take some time to develop. Three types of brain tumors are associated with TSC: cortical tubers, which generally form on the surface of the brain; subependymal nodules, which form in the walls of the ventricles (the fluid-filled cavities of the brain); and giant-cell astrocytomas, a type of tumor that can block the flow of fluids within the brain.

MalaCards based summary : Tuberous Sclerosis, also known as tuberous sclerosis syndrome, is related to polycystic kidney disease, infantile severe, with tuberous sclerosis and tuberous sclerosis 1, and has symptoms including seizures, tremor and back pain. An important gene associated with Tuberous Sclerosis is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways are Signaling by GPCR and ERK Signaling. The drugs Doxycycline and Antimalarials have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and skin, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 An autosomal dominant disease that is characterized by the growth of numerous noncancerous tumors in many parts of the body.

NIH Rare Diseases : 52 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 . Treatment depends on the symptoms in each individual case and may include medications or surgery.

MedlinePlus : 42 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

Wikipedia : 74 Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes... more...

Related Diseases for Tuberous Sclerosis

Diseases in the Tuberous Sclerosis family:

Tuberous Sclerosis 1 Tuberous Sclerosis 2

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

(show top 50) (show all 781)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease, infantile severe, with tuberous sclerosis 35.5 TSC2 PKD1
2 tuberous sclerosis 1 35.0 TSC2 TSC1 TBC1D7 STK11 RPS6KB1 RPS6KA1
3 tuberous sclerosis 2 34.8 TSC2 TSC1 STK11 RPS6KB1 RPS6KA1 RPS6
4 lymphangioleiomyomatosis 34.0 TSC2 TSC1 RPS6KB1 RPS6 MTOR
5 subependymal giant cell astrocytoma 33.6 TSC2 TSC1 SYP RHEB MTOR GFAP
6 hemimegalencephaly 33.6 RPS6 PIK3CA MTOR GFAP
7 lennox-gastaut syndrome 33.4 TSC2 TSC1 DCX
8 kidney angiomyolipoma 33.4 TSC2 TSC1 TBC1D7 RPS6KB1 RHEB MTOR
9 juvenile pilocytic astrocytoma 33.3 SYP NF1 GFAP
10 spinal cancer 32.9 SYP NF1 GFAP
11 angiomyolipoma 32.6 TSC2 TSC1 RPS6KB1 MTOR CCL26
12 congenital heart defects, hamartomas of tongue, and polysyndactyly 32.3 TSC2 TSC1 STK11 CCL26
13 polycystic kidney disease 31.9 TSC2 TSC1 PKD1 MTOR AKT1
14 neurofibromatosis, type iv, of riccardi 31.7 VHL TSC2 NF1 MTOR AKT1
15 renal cell carcinoma, nonpapillary 31.6 VHL TSC2 TSC1 PIK3CA MTOR EIF4EBP1
16 autosomal dominant polycystic kidney disease 31.6 TSC2 TSC1 PKD1 MTOR
17 hepatic angiomyolipoma 31.5 TSC2 TSC1 MTOR
18 polycystic kidney disease 1 with or without polycystic liver disease 31.5 TSC2 TSC1 PKD1 MTOR
19 focal epilepsy 31.5 TSC2 TSC1 MTOR GFAP DCX
20 polycystic liver disease 1 with or without kidney cysts 31.4 TSC2 TSC1 PKD1
21 obstructive hydrocephalus 31.4 TSC2 TSC1 SYP NF1 GFAP
22 autism 31.4 TSC2 TSC1 NF1 MTOR GFAP AKT1
23 pervasive developmental disorder 31.3 TSC2 TSC1 MTOR GFAP AKT1
24 cystic kidney disease 31.3 VHL TSC2 TSC1 PKD1 MTOR CCL26
25 focal cortical dysplasia, type ii 31.3 TSC2 TSC1 MTOR GFAP
26 peutz-jeghers syndrome 31.2 TSC2 TSC1 STK11
27 von hippel-lindau syndrome 31.1 VHL TSC2 PKD1 NF1
28 macrodactyly 31.1 TSC1 PIK3CA
29 angiomatosis 31.1 VHL TSC2 CCL26
30 hemangioma 31.0 VHL TSC2 SYP MTOR AKT1
31 subependymoma 30.9 TSC2 SYP GFAP
32 meningioma, familial 30.9 SYP RHEB NF1 GFAP AKT1
33 glioblastoma multiforme 30.8 TSC2 TSC1 SYP RPS6KB1 PIK3CA NF1
34 benign ependymoma 30.8 TSC2 TSC1 SYP NF1 MTOR GFAP
35 kidney cancer 30.8 VHL TSC2 TSC1 PIK3CA MTOR AKT1
36 neurilemmoma 30.8 NF1 GFAP AKT1
37 medulloblastoma 30.6 TSC2 SYP PIK3CA NF1 MTOR GFAP
38 chiari malformation 30.6 SYP GFAP
39 brain cancer 30.6 TSC1 SYP PIK3CA NF1 GFAP AKT1
40 ganglioglioma 30.5 TSC2 TSC1 SYP NF1 GFAP DCX
41 giant cell glioblastoma 30.5 SYP NF1 GFAP
42 nevus, epidermal 30.5 PIK3CA NF1 AKT1
43 rhabdomyosarcoma 30.4 SYP RPS6KB1 MTOR EIF4EBP1 AKT1
44 lung cancer susceptibility 3 30.4 TSC2 STK11 PIK3CA NF1 MTOR AKT1
45 neuroblastoma 30.4 TSC2 SYP RPS6KB1 PIK3CA NF1 MTOR
46 renal cell carcinoma, papillary, 1 30.4 VHL RHEB PIK3CA MTOR AKT1
47 aortic disease 30.3 TSC2 TSC1 RPS6KB1
48 cowden syndrome 30.2 TSC2 TSC1 STK11 RPS6KB1 RPS6 RHEB
49 cowden syndrome 1 30.1 TSC2 TSC1 STK11 RHEB PIK3CA NF1
50 diabetes mellitus, noninsulin-dependent 30.1 TSC2 TSC1 STK11 RPS6KB1 RHEB PIK3CA

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



Diseases related to Tuberous Sclerosis

Symptoms & Phenotypes for Tuberous Sclerosis

UMLS symptoms related to Tuberous Sclerosis:


seizures, tremor, back pain, pain, headache, syncope, chronic pain, sciatica, vertigo/dizziness, sleeplessness

GenomeRNAi Phenotypes related to Tuberous Sclerosis according to GeneCards Suite gene sharing:

26 (show all 34)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 11 MTOR PIK3CA
2 Decreased viability GR00221-A-1 11 RPS6KA1 RPS6KB1 VHL AKT1 MTOR NF1
3 Decreased viability GR00221-A-2 11 RPS6KA1 TSC1 VHL AKT1 NF1 PIK3CA
4 Decreased viability GR00221-A-3 11 RPS6KA1 TSC1 AKT1
5 Decreased viability GR00221-A-4 11 RPS6KA1 AKT1 MTOR NF1 PIK3CA
6 Decreased viability GR00301-A 11 RPS6KA1 RPS6KB1 TSC1 VHL
7 Decreased viability GR00342-S-1 11 RPS6KA1 MTOR
8 Decreased viability GR00342-S-2 11 MTOR
9 Decreased viability GR00381-A-1 11 RPS6KB1
10 Decreased viability GR00402-S-2 11 RPS6KA1 RPS6KB1 TSC1 VHL AKT1 MTOR
11 Decreased cell migration GR00055-A-1 9.91 AKT1 MTOR NF1 PIK3CA PKD1 RPS6KA1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.81 MTOR RHEB
13 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.81 TSC1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.81 PIK3CA
15 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.81 AKT1 MTOR PIK3CA RHEB
16 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.81 PIK3CA
17 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.81 MTOR RHEB
18 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.81 AKT1 PIK3CA
19 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.81 PIK3CA
20 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.81 AKT1 MTOR PIK3CA RHEB TSC1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.81 PIK3CA
22 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.81 AKT1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.81 RHEB
24 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.81 AKT1 MTOR PIK3CA
25 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.81 RHEB
26 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.81 AKT1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.81 MTOR
28 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.81 TSC1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.81 AKT1 MTOR
30 Decreased viability with paclitaxel GR00179-A-1 9.55 MTOR RPS6KB1
31 Decreased viability with paclitaxel GR00179-A-2 9.55 MTOR
32 Decreased viability with paclitaxel GR00179-A-3 9.55 MTOR RPS6KB1
33 Increased cell migration GR00055-A-3 9.35 MTOR NF1 PIK3CA PKD1 RPS6KA1
34 Decreased sensitivity to paclitaxel GR00112-A-0 9.32 NF1 VHL

MGI Mouse Phenotypes related to Tuberous Sclerosis:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.41 AKT1 EIF4EBP1 GFAP MTOR NF1 PIK3CA
2 cardiovascular system MP:0005385 10.39 AKT1 EIF4EBP1 GFAP MTOR NF1 PIK3CA
3 growth/size/body region MP:0005378 10.37 AKT1 DCX EIF4EBP1 GFAP MTOR NF1
4 behavior/neurological MP:0005386 10.34 AKT1 DCX GFAP MTOR NF1 PIK3CA
5 homeostasis/metabolism MP:0005376 10.32 AKT1 EIF4EBP1 GFAP MTOR NF1 PIK3CA
6 embryo MP:0005380 10.26 AKT1 MTOR NF1 PIK3CA PKD1 RHEB
7 endocrine/exocrine gland MP:0005379 10.25 AKT1 MTOR NF1 PIK3CA PKD1 RPS6
8 mortality/aging MP:0010768 10.24 AKT1 DCX EIF4EBP1 GFAP MTOR NF1
9 immune system MP:0005387 10.2 AKT1 GFAP MTOR NF1 PIK3CA PKD1
10 muscle MP:0005369 10.1 AKT1 EIF4EBP1 GFAP MTOR NF1 PIK3CA
11 integument MP:0010771 10.09 AKT1 NF1 PIK3CA PKD1 RPS6 STK11
12 liver/biliary system MP:0005370 10.01 AKT1 NF1 PKD1 RPS6 STK11 TSC1
13 nervous system MP:0003631 9.97 AKT1 DCX GFAP MTOR NF1 PIK3CA
14 neoplasm MP:0002006 9.91 AKT1 NF1 PIK3CA PKD1 RPS6KB1 STK11
15 normal MP:0002873 9.65 AKT1 GFAP MTOR NF1 PKD1 RHEB
16 reproductive system MP:0005389 9.32 AKT1 DCX NF1 PIK3CA PKD1 RPS6KB1

Drugs & Therapeutics for Tuberous Sclerosis

Drugs for Tuberous Sclerosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 106)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
2 Antimalarials Phase 4
3 Antiprotozoal Agents Phase 4
4 Antiparasitic Agents Phase 4
5
Topiramate Approved Phase 3 97240-79-4 5284627
6
Phenobarbital Approved, Investigational Phase 3 50-06-6 4763
7
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
8
Clobazam Approved, Illicit Phase 3 22316-47-8 2789
9
Clonazepam Approved, Illicit Phase 3 1622-61-3 2802
10
Carbamazepine Approved, Investigational Phase 3 298-46-4 2554
11
Phenytoin Approved, Vet_approved Phase 3 57-41-0 1775
12
Dronabinol Approved, Illicit Phase 3 1972-08-3 16078
13
Ethanol Approved Phase 3 64-17-5 702
14 Strawberry Approved Phase 3
15
Carvedilol Approved, Investigational Phase 2, Phase 3 72956-09-3 2585
16
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 134070 5280453
17
Melatonin Approved, Nutraceutical, Vet_approved Phase 3 73-31-4 896
18
Calcium Approved, Nutraceutical Phase 2, Phase 3 7440-70-2 271
19 Trace Elements Phase 3
20 Micronutrients Phase 3
21 Vasoconstrictor Agents Phase 3
22 Nutrients Phase 3
23 Vitamins Phase 3
24 Central Nervous System Depressants Phase 3
25 Sunflower Phase 3
26 Epidiolex Phase 3
27 Pharmaceutical Solutions Phase 3
28 Antibiotics, Antitubercular Phase 2, Phase 3
29 Anti-Infective Agents Phase 2, Phase 3
30 Anti-Bacterial Agents Phase 2, Phase 3
31 Immunologic Factors Phase 2, Phase 3
32 Calcium, Dietary Phase 2, Phase 3
33 Antiviral Agents Phase 2, Phase 3
34 Antihypertensive Agents Phase 2, Phase 3
35 Adrenergic Antagonists Phase 2, Phase 3
36 Adrenergic beta-Antagonists Phase 2, Phase 3
37 Vasodilator Agents Phase 2, Phase 3
38 Adrenergic Agents Phase 2, Phase 3
39 Antioxidants Phase 2, Phase 3
40 interferons Phase 2, Phase 3
41 Adrenergic alpha-Antagonists Phase 2, Phase 3
42 Adjuvants, Immunologic Phase 2, Phase 3
43 polysaccharide-K Phase 2, Phase 3
44 calcium channel blockers Phase 2, Phase 3
45 Radiation-Protective Agents Phase 2, Phase 3
46 Interferon Inducers Phase 2, Phase 3
47
Metformin Approved Phase 2 657-24-9 14219 4091
48
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
49
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
50
Propranolol Approved, Investigational Phase 2 525-66-6 4946

Interventional clinical trials:

(show top 50) (show all 102)
# Name Status NCT ID Phase Drugs
1 A Randomised, Double Blind, Placebo Controlled Trial of Doxycycline in Lymphangioleiomyomatosis. Completed NCT00989742 Phase 4 Doxycycline;Placebo
2 CLINICAL TRIAL TO DETERMINE THE EFFICACY AND SAFETY OF RAPAMYCIN IN ANGIOMYOLIPOMAS IN PATIENTS WITH TUBEROUS SCLEROSIS Completed NCT01217125 Phase 4 Sirolimus
3 Phase IV, Single Arm Study of Safety and Efficacy of Everolimus in Chinese Adults With Tuberous Sclerosis Complex Who Have Renal Angiomyolipoma Not Requiring Immediate Surgery Active, not recruiting NCT03525834 Phase 4 everolimus
4 Long-term Follow-up Study to Monitor the Growth and Development of Pediatric Patients Previously Treated With Everolimus in Study CRAD001M2301 Active, not recruiting NCT02338609 Phase 4 Everolimus;Envirolimus drug class as prescribed by Physician
5 Sabril for Treatment of Adult Refractory Partial Seizures Symptomatic of Tuberous Sclerosis: An Open Label, Phase IV Prospective Safety and Tolerability Study Terminated NCT01266291 Phase 4 vigabatrin
6 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
7 Lymphangioleiomyomatosis Efficacy and Safety Trial Unknown status NCT00414648 Phase 3 Sirolimus;Placebo sirolimus
8 Phase III Randomized, Double-Blind, Sham-Controlled Study of Plasma Exchange for Acute Severe Attacks of Inflammatory Demyelinating Disease Refractory to Intravenous Methylprednisolone Unknown status NCT00004645 Phase 3
9 A Randomized, Double-blind, Placebo-controlled Study of Everolimus in the Treatment of Patients With Subependymal Giant Cell Astrocytomas (SEGA) Associated With Tuberous Sclerosis Complex (TSC) Completed NCT00789828 Phase 3 Everolimus;Placebo
10 A Randomized, Double-blind, Placebo-controlled Study of RAD0001 in the Treatment of Angiomyolipoma in Patients With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00790400 Phase 3 Everolimus (RAD001);Everolimus Placebo
11 A Double-blind, Randomized, Placebo-controlled Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P, CBD) as Add-on Therapy in Patients With Tuberous Sclerosis Complex Who Experience Inadequately-controlled Seizures Completed NCT02544763 Phase 3 GWP42003-P;Placebo
12 A Double-blind, Randomized, Placebo-controlled Phase III Trial to Investigate the Efficacy and Safety of NPC-12G Gel (Topical Formulation of Sirolimus) to Angiofibroma and Other Skin Lesions in Patients With Tuberous Sclerosis Complex Completed NCT02635789 Phase 3 NPC-12G gel;Placebo gel
13 A Long-term, Single-arm, Open-label Trial of NPC-12G (Topical Formulation of Sirolimus) to Angiofibroma and Other Skin Lesions in Patients With Tuberous Sclerosis Complex Completed NCT02634931 Phase 3 NPC-12G gel
14 A Three-arm, Randomized, Double-blind, Placebo-controlled Study of the Efficacy and Safety of Two Trough-ranges of Everolimus as Adjunctive Therapy in Patients With Tuberous Sclerosis Complex (TSC) Who Have Refractory Partial-onset Seizures Completed NCT01713946 Phase 3 RAD001;Placebo;Antiepileptic drug (1 to 3 only);open label RAD001 (only used for post-extension phase)
15 Study of Combination Therapy With Topical Rapamycin and Calcitriol for Cutaneous Lesions of Tuberous Sclerosis: A Double-blind Randomized Controlled Trial Completed NCT03140449 Phase 3 Rapamycin;Calcitriol;Rapamycin-calcitriol combination
16 A Randomized, Placebo-controlled Study to Investigate the Efficacy and Safety of Circadin® to Alleviate Sleep Disturbances in Children With Neurodevelopmental Disabilities Completed NCT01906866 Phase 3 Circadin 2/5/10 mg;Placebo
17 A Phase 2/3, Multi-Center, Double-Blind, Placebo-Controlled, Randomized, Parallel-Group, Dose-Response Comparison of the Efficacy and Safety of a Topical Rapamycin Cream for the Treatment of Facial Angiofibromas (FA) Associated With Tuberous Sclerosis Complex (TSC) in Patients 6 Years of Age and Over Recruiting NCT03826628 Phase 2, Phase 3 rapamycin;placebo
18 A Double-Blind, Placebo-Controlled, Parallel-Group Study of Cannabidiol Plus Tetrahydrocannabinol (CBD+THC) Given as Adjunctive Therapy in Patients With Refractory Seizures Recruiting NCT03808935 Phase 3 Medical Cannabis;Placebo
19 An Open-label, Multi-center Long-term Safety Roll-over Study in Patients With Tuberous Sclerosis Complex (TSC) and Refractory Seizures Who Are Judged by the Investigator to Benefit From Continued Treatment With Everolimus After Completion of Study CRAD001M2304. Active, not recruiting NCT02962414 Phase 3 everolimus
20 A Double-blind, Randomized, Placebo-controlled Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P, CBD) as Add-on Therapy in Patients With Tuberous Sclerosis Complex Who Experience Inadequately-controlled Seizures Enrolling by invitation NCT02544750 Phase 3 GWP42003-P
21 Topical Everolimus Versus Placebo for the Treatment of Facial Angiofibromas in Patients With Tuberous Sclerosis Complex. A Phase II/III, Multicentre, Randomized, Double-blind, Placebo-controlled Study of 3 Doses of Topical Everolimus. Not yet recruiting NCT02860494 Phase 2, Phase 3 Everolimus;Placebo
22 An Open-label Pilot Study Using Carvedilol-CR as a P-glycoprotein Inhibitor as Adjunct Therapy in the Treatment of Medically-refractory Epilepsy Terminated NCT00524134 Phase 2, Phase 3 Carvedilol-CR
23 Prednisolone vs. Vigabatrin in the First-line Treatment of Infantile Spasms Withdrawn NCT02299115 Phase 3 Prednisolone;Vigabatrin
24 A Trial of the Efficacy and Safety of Sirolimus(Rapamycin)Therapy for Renal Angiomyolipmoas in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Unknown status NCT00490789 Phase 2 sirolimus
25 Activity and Safety of Everolimus in Combination With Octreotide LAR and Metformin in Patients With Advanced Pancreatic Well-differentiated Neuroendocrine Tumors (pWDNETs): a Phase II, Open, Monocentric, Prospective Study Unknown status NCT02294006 Phase 2 Everolimus plus Octreotide LAR plus Metformin
26 Phase II Single Arm Trial With Combination of Everolimus and Letrozole in Treatment of Platinum Resistant Relapse or Refractory or Persistent Ovarian Cancer/Endometrial Cancer (CRAD001CUS242T) Unknown status NCT02188550 Phase 2 everolimus and letrozole
27 A Phase II Multi-Center Study of Rapamycin for Treating Kidney Angiomyolipomas in TSC or LAM Patients Unknown status NCT00126672 Phase 2 sirolimus
28 Rapamycin Therapy of Angiomyolipomas in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457808 Phase 2 Rapamycin, sirolimus
29 Long Term Follow Up for RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00792766 Phase 1, Phase 2 everolimus (RAD001)
30 RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457964 Phase 1, Phase 2 RAD001
31 Everolimus (RAD001)Therapy of Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex Completed NCT00411619 Phase 1, Phase 2 Everolimus
32 Everolimus (RAD001) Therapy for Epilepsy in Patients With Tuberous Sclerosis Complex Completed NCT01070316 Phase 1, Phase 2 Everolimus
33 Rapalogues for Autism Phenotype in TSC: A Feasibility Study Completed NCT01929642 Phase 2 Sirolimus;Everolimus
34 Phase II Study of Topical Rapamycin to Erase Angiofibromas in TSC-Multicenter Evaluation of a Novel Therapy Completed NCT01526356 Phase 2 Placebo;Rapamycin;Rapamycin
35 Phase II Study of Everolimus in Patients With Advanced Solid Malignancies With TSC1, TSC2, NF1, NF2, or STK11 Mutations Completed NCT02352844 Phase 2 Everolimus
36 Randomized Double-Blind Phase 2 Trial Of RAD001 For Neurocognition In Individuals With Tuberous Sclerosis Complex Completed NCT01289912 Phase 2 RAD001;Placebo
37 A Phase II Trial of Everolimus for Cancer Patients With Inactivating Mutations in TSC1 or TSC2 or Activating MTOR Mutations Completed NCT02201212 Phase 2 Everolimus
38 A TRIAL OF LETROZOLE IN PULMONARY LYMPHANGIOLEIOMYOMATOSIS Completed NCT01353209 Phase 2 Letrozole;Placebo
39 Phase II Study of Everolimus (RAD001, Afinitor®) for Children With Recurrent or Progressive Ependymoma Completed NCT02155920 Phase 2 Everolimus
40 An Angiogenic Study in Patients With Well/Moderately Differentiated Metastatic Pancreatic Neuroendocrine Tumors Treated With Everolimus Completed NCT02305810 Phase 2 Everolimus 10 mg daily
41 Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers: Pilot Trial Completed NCT02104011 Phase 2 Propranolol
42 The ScanBrit Randomised Controlled Study of Gluten- and Casein-free Dietary Intervention for Children With Autism Spectrum Disorders Completed NCT00614198 Phase 2
43 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
44 A Single Arm, Multicenter Phase II a Trial of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas That Cannot be Removed by Surgery Completed NCT01412892 Phase 2 RAD001: Everolimus
45 A Placebo-controlled Study of Efficacy & Safety of Aspirin as an add-on Treatment in Patients With Tuberous Sclerosis Complex (TSC) & Refractory Seizures Recruiting NCT03356769 Phase 2 Aspirin;AED;Placebo
46 Preventing Epilepsy Using Vigabatrin In Infants With Tuberous Sclerosis Complex (PREVeNT Trial) A Randomized, Double-blind, Placebo-controlled Seizure Prevention Clinical Trial for Infants With TSC Recruiting NCT02849457 Phase 2 Vigabatrin;Placebo
47 Phase 2 Multi Center Prospective Rand. Double Blind Placebo Cont. Parallel Design Study to Evaluate Safety & Efficacy of Topical Sirolimus for Cutaneous Angiofibromas in Subjects W/ Tuberous Sclerosis Complex Followed by Opt. Open Label Recruiting NCT03363763 Phase 2 Sirolimus 0.2%;Sirolimus 0.4%;Placebo ointment
48 A Pilot Study To Evaluate The Effects of Everolimus on Brain mTOR Activity and Cortical Hyperexcitability in TSC and FCD Recruiting NCT02451696 Phase 2 Everolimus
49 Safety and Efficacy of Saracatinib In Subjects With Lymphangioleiomyomatosis Recruiting NCT02737202 Phase 2 saracatinib
50 An Open Label, Multicenter, Single Arm Phase II Study to Evaluate the Activity and Tolerability of the Novel mTOR Inhibitor, MLN0128 (TAK-228), in Patients With Locally Advanced or Metastatic Transitional Cell Carcinoma of the Urothelial Tract Whose Tumors Harbor a TSC1 and/or a TSC2 Mutation Recruiting NCT03047213 Phase 2 Sapanisertib

Search NIH Clinical Center for Tuberous Sclerosis

Cochrane evidence based reviews: tuberous sclerosis

Genetic Tests for Tuberous Sclerosis

Genetic tests related to Tuberous Sclerosis:

# Genetic test Affiliating Genes
1 Tuberous Sclerosis Syndrome 29

Anatomical Context for Tuberous Sclerosis

MalaCards organs/tissues related to Tuberous Sclerosis:

40
Kidney, Brain, Skin, Lung, Heart, Liver, Eye

Publications for Tuberous Sclerosis

Articles related to Tuberous Sclerosis:

(show top 50) (show all 7557)
# Title Authors PMID Year
1
Development of a multidisciplinary clinic of neurofibromatosis type 1 and other neurocutaneous disorders in Greece. A 3-year experience. 61 42
31443616 2019
2
A Radiologic Intervention in a Tuberous Sclerosis Patient with Massive Bilateral Angiomyolipomas Causing Symptomatic Bleeding: A Case Report and Review of the Renal Manifestations and CT Imaging Features. 61 42
31461228 2019
3
Tuberous Sclerosis with Bilateral Angiomyolipoma. 61 42
31299845 2019
4
Sirolimus and tuberous sclerosis-associated renal angiomyolipomas. 54 61
20457704 2010
5
Biallelic TSC gene inactivation in tuberous sclerosis complex. 54 61
20498439 2010
6
Thoracic aortic disease in tuberous sclerosis complex: molecular pathogenesis and potential therapies in Tsc2+/- mice. 54 61
20159776 2010
7
TSC1 loss synergizes with KRAS activation in lung cancer development in the mouse and confers rapamycin sensitivity. 54 61
19966866 2010
8
Animal models of lymphangioleiomyomatosis (LAM) and tuberous sclerosis complex (TSC). 54 61
20235887 2010
9
Carboxy terminal tail of polycystin-1 regulates localization of TSC2 to repress mTOR. 54 61
20169078 2010
10
RAD 001 (everolimus) prevents mTOR and Akt late re-activation in response to imatinib in chronic myeloid leukemia. 54 61
20014066 2010
11
Noninvasive testing, early surgery, and seizure freedom in tuberous sclerosis complex. 54 61
20124204 2010
12
Antroquinonol displays anticancer potential against human hepatocellular carcinoma cells: a crucial role of AMPK and mTOR pathways. 54 61
19723512 2010
13
Pancreatic endocrine tumors: expression profiling evidences a role for AKT-mTOR pathway. 54 61
19917848 2010
14
The evolutionarily conserved TSC/Rheb pathway activates Notch in tuberous sclerosis complex and Drosophila external sensory organ development. 54 61
20038815 2010
15
Phosphorylated hamartin-Hsp70 complex regulates apoptosis via mitochondrial localization. 54 61
20006582 2010
16
[Care continuity for patients with tuberous sclerosis complex (TSC) during transition from childhood to adulthood]. 54 61
20077806 2010
17
The tuberous sclerosis complex. 54 61
20146692 2010
18
Molecular mechanism of regulation of OGG1: tuberin deficiency results in cytoplasmic redistribution of transcriptional factor NF-YA. 54 61
20040097 2009
19
Loss of Tsc1, but not Pten, in renal tubular cells causes polycystic kidney disease by activating mTORC1. 54 61
19692352 2009
20
Hamartin variants that are frequent in focal dysplasias and cortical tubers have reduced tuberin binding and aberrant subcellular distribution in vitro. 54 61
19918125 2009
21
Post-transcriptional regulation of chemokine receptor CXCR4 by estrogen in HER2 overexpressing, estrogen receptor-positive breast cancer cells. 54 61
18807177 2009
22
Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex. 54 61
19747374 2009
23
A non-canonical MEK/ERK signaling pathway regulates autophagy via regulating Beclin 1. 54 61
19520853 2009
24
Tuberous sclerosis tumor suppressor complex-like complexes act as GTPase-activating proteins for Ral GTPases. 54 61
19520869 2009
25
TSC2/PKD1 contiguous gene syndrome: a report of 2 cases with emphasis on dermatopathologic findings. 54 61
19590422 2009
26
Defects in cell polarity underlie TSC and ADPKD-associated cystogenesis. 54 61
19321600 2009
27
Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner. 54 61
19420259 2009
28
Amino acid regulation of TOR complex 1. 54 61
18765678 2009
29
A synaptic trek to autism. 54 61
19545994 2009
30
Cardiac rhabdomyomas in tuberous sclerosis complex show apoptosis regulation and mTOR pathway abnormalities. 54 61
17990907 2009
31
Missense mutations to the TSC1 gene cause tuberous sclerosis complex. 54 61
18830229 2009
32
Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex. 54 61
19332694 2009
33
Neuropsychological attention deficits in tuberous sclerosis complex (TSC). 54 61
19215038 2009
34
Unusual radiological presentation of tuberous sclerosis complex with leptomeningeal angiomatosis associated with a hypomorphic mutation in the TSC2 gene. 54 61
19258292 2009
35
Successful surgery in late onset epilepsy with tuberous sclerosis complex. 54 61
19349254 2009
36
A complex interplay between Akt, TSC2 and the two mTOR complexes. 54 61
19143635 2009
37
Therapeutic targeting of mTOR in tuberous sclerosis. 54 61
19143643 2009
38
Cardiac rhabdomyoma in tuberous sclerosis: hyperactive Erk signaling. 54 61
18037514 2009
39
PI3K/mTORC1 activation in hamartoma syndromes: therapeutic prospects. 54 61
19177005 2009
40
Recent advances in neurobiology of Tuberous Sclerosis Complex. 54 61
19028034 2009
41
The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway. 54 61
18845692 2009
42
Characterization of the intrinsic and TSC2-GAP-regulated GTPase activity of Rheb by real-time NMR. 54 61
19176517 2009
43
Prevalence of tuberous sclerosis complex in Taiwan: a national population-based study. 54 61
19887839 2009
44
Clinicopathological and immunohistochemical findings in an autopsy case of tuberous sclerosis complex. 54 61
18410267 2008
45
Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. 54 61
18818683 2008
46
The G1556S-type tuberin variant suppresses tumor formation in tuberous sclerosis 2 mutant (Eker) rats despite its deficiency in mTOR inhibition. 54 61
18695678 2008
47
Role of TSC-mTOR pathway in diabetic nephropathy. 54 61
18926585 2008
48
Genetics and molecular biology of tuberous sclerosis complex. 54 61
19506736 2008
49
The mTOR pathway and its role in human genetic diseases. 54 61
18598780 2008
50
Epilepsy surgery and tuberous sclerosis complex: special considerations. 54 61
18759614 2008

Variations for Tuberous Sclerosis

ClinVar genetic disease variations for Tuberous Sclerosis:

6 (show top 50) (show all 2389) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TSC1 NM_000368.5(TSC1):c.2675_2676del (p.Arg892fs)deletion Pathogenic 217251 rs118203726 9:135772947-135772948 9:132897560-132897561
2 TSC1 NM_000368.4(TSC1):c.671T>G (p.Met224Arg)SNV Pathogenic 5104 rs118203426 9:135796816-135796816 9:132921429-132921429
3 TSC1 NM_000368.4(TSC1):c.539T>C (p.Leu180Pro)SNV Pathogenic 5105 rs118203396 9:135797330-135797330 9:132921943-132921943
4 TSC2 NM_000548.5(TSC2):c.4642del (p.Leu1548fs)deletion Pathogenic 12392 rs137854083 16:2135302-2135302 16:2085301-2085301
5 TSC2 NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu)SNV Pathogenic 12393 rs45483392 16:2137898-2137898 16:2087897-2087897
6 TSC2 NM_000548.5(TSC2):c.34A>T (p.Lys12Ter)SNV Pathogenic 12394 rs45512692 16:2098650-2098650 16:2048649-2048649
7 TSC2 NM_000548.5(TSC2):c.2056_2059dup (p.Ser687fs)duplication Pathogenic 12395 rs137854337 16:2121893-2121894 16:2071892-2071893
8 TSC2 NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)SNV Pathogenic 12396 rs45517179 16:2114342-2114342 16:2064341-2064341
9 TSC2 NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)SNV Pathogenic 12397 rs28934872 16:2120572-2120572 16:2070571-2070571
10 TSC2 NM_000548.5(TSC2):c.2150T>G (p.Leu717Arg)SNV Pathogenic 12398 rs45517214 16:2122294-2122294 16:2072293-2072293
11 TSC2 NM_000548.5(TSC2):c.1432C>T (p.Gln478Ter)SNV Pathogenic 12399 rs121964862 16:2113043-2113043 16:2063042-2063042
12 TSC2 NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter)SNV Pathogenic 12400 rs45517148 16:2110791-2110791 16:2060790-2060790
13 TSC2 NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)deletion Pathogenic 12402 rs137854218 16:2138294-2138311 16:2088293-2088310
14 TSC2 NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln)SNV Pathogenic 12403 rs45517259 16:2126143-2126143 16:2076142-2076142
15 TSC2 NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp)SNV Pathogenic 12404 rs45517258 16:2126142-2126142 16:2076141-2076141
16 TSC2 NM_000548.5(TSC2):c.2713C>G (p.Arg905Gly)SNV Pathogenic 12405 rs45517258 16:2126142-2126142 16:2076141-2076141
17 TSC2 NM_000548.5(TSC2):c.2355+2_2355+5deldeletion Pathogenic 12406 rs137854250 16:2122983-2122986 16:2072982-2072985
18 TSC2 NM_000548.5(TSC2):c.1322G>A (p.Trp441Ter)SNV Pathogenic 12407 rs45515894 16:2112562-2112562 16:2062561-2062561
19 TSC1 NM_000368.5(TSC1):c.1884_1887AAAG[1] (p.Lys630fs)short repeat Pathogenic 5097 9:135781074-135781077 9:132905687-132905690
20 TSC1 NM_000368.4(TSC1):c.749T>A (p.Leu250Ter)SNV Pathogenic 5098 rs118203447 9:135787833-135787833 9:132912446-132912446
21 TSC1 NM_001162426.2(TSC1):c.1899_1900CA[1] (p.Thr634fs)short repeat Pathogenic 5100 rs118203597 9:135781060-135781061 9:132905673-132905674
22 TSC1 NM_000368.4(TSC1):c.1152del (p.Gly385fs)deletion Pathogenic 48748 rs118203501 9:135786069-135786069 9:132910682-132910682
23 TSC1 NM_000368.4(TSC1):c.1271_1272delGA (p.Arg424Asnfs)short repeat Pathogenic 48756 rs118203509 9:135782749-135782750 9:132907362-132907363
24 TSC1 NM_000368.5(TSC1):c.1257del (p.Arg420fs)deletion Pathogenic 48753 rs118203506 9:135785964-135785964 9:132910577-132910577
25 TSC1 NM_000368.5(TSC1):c.1431_1434del (p.Glu478fs)deletion Pathogenic 48779 rs118203527 9:135782122-135782125 9:132906735-132906738
26 TSC1 NM_000368.4(TSC1):c.1498C>T (p.Arg500Ter)SNV Pathogenic 48791 rs118203537 9:135781467-135781467 9:132906080-132906080
27 TSC1 NM_000368.5(TSC1):c.1580_1581del (p.Gln527fs)deletion Pathogenic 48805 rs118203550 9:135781384-135781385 9:132905997-132905998
28 TSC1 NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)SNV Pathogenic 48796 rs118203542 9:135781440-135781440 9:132906053-132906053
29 TSC1 NM_000368.4(TSC1):c.1697del (p.Pro566fs)deletion Pathogenic 48817 rs118203563 9:135781268-135781268 9:132905881-132905881
30 TSC1 NM_001162426.2(TSC1):c.1705_1706del (p.Arg569fs)deletion Pathogenic 48818 rs118203564 9:135781256-135781257 9:132905869-132905870
31 TSC1 NM_001162426.2(TSC1):c.1902_1903AG[1] (p.Glu635fs)short repeat Pathogenic 48852 rs118203599 9:135781057-135781058 9:132905670-132905671
32 TSC1 NM_000368.5(TSC1):c.1959dup (p.Gln654fs)duplication Pathogenic 48857 rs118203603 9:135781005-135781006 9:132905618-132905619
33 TSC1 NM_000368.4(TSC1):c.1960C>T (p.Gln654Ter)SNV Pathogenic 48858 rs75820036 9:135781005-135781005 9:132905618-132905618
34 TSC1 NM_000368.4(TSC1):c.1963C>T (p.Gln655Ter)SNV Pathogenic 48859 rs118203606 9:135781002-135781002 9:132905615-132905615
35 TSC1 NM_000368.4(TSC1):c.1997+1G>ASNV Pathogenic 48863 rs118203610 9:135780967-135780967 9:132905580-132905580
36 TSC1 NM_001162426.2(TSC1):c.2020del (p.Asp674fs)deletion Pathogenic 48873 rs118203620 9:135779816-135779816 9:132904429-132904429
37 TSC1 NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)SNV Pathogenic 48885 rs118203631 9:135779172-135779172 9:132903785-132903785
38 TSC1 NM_000368.4(TSC1):c.2131C>T (p.Gln711Ter)SNV Pathogenic 48907 rs118203647 9:135779115-135779115 9:132903728-132903728
39 TSC1 NM_000368.4(TSC1):c.2227C>T (p.Gln743Ter)SNV Pathogenic 48921 rs118203661 9:135778156-135778156 9:132902769-132902769
40 TSC1 NM_000368.4(TSC1):c.2249G>A (p.Trp750Ter)SNV Pathogenic 48922 rs118203662 9:135778134-135778134 9:132902747-132902747
41 TSC1 NM_000368.4(TSC1):c.211-1G>ASNV Pathogenic 48902 rs118203353 9:135801127-135801127 9:132925740-132925740
42 TSC1 NM_000368.4(TSC1):c.211-2A>CSNV Pathogenic 48903 rs118203352 9:135801128-135801128 9:132925741-132925741
43 TSC1 NM_001162426.2(TSC1):c.2108_2109del (p.Leu702_Tyr703insTer)deletion Pathogenic 48905 rs118203645 9:135779134-135779135 9:132903747-132903748
44 TSC1 NM_000368.4(TSC1):c.2283C>A (p.Tyr761Ter)SNV Pathogenic 48929 rs118203668 9:135778100-135778100 9:132902713-132902713
45 TSC1 NM_000368.4(TSC1):c.2293C>T (p.Gln765Ter)SNV Pathogenic 48934 rs118203673 9:135778090-135778090 9:132902703-132902703
46 TSC1 NM_000368.4(TSC1):c.2341C>T (p.Gln781Ter)SNV Pathogenic 48941 rs118203680 9:135778042-135778042 9:132902655-132902655
47 TSC1 NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)SNV Pathogenic 48943 rs118203682 9:135778027-135778027 9:132902640-132902640
48 TSC1 NM_000368.4(TSC1):c.2362G>T (p.Glu788Ter)SNV Pathogenic 48946 rs118203685 9:135778021-135778021 9:132902634-132902634
49 TSC1 NM_000368.4(TSC1):c.2401G>T (p.Glu801Ter)SNV Pathogenic 48949 rs118203687 9:135777077-135777077 9:132901690-132901690
50 TSC1 NM_000368.4(TSC1):c.2503-2A>GSNV Pathogenic 48967 rs118203704 9:135776226-135776226 9:132900839-132900839

Copy number variations for Tuberous Sclerosis from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 97402 16 1 7900000 Copy number TSC2 Tuberous sclerosis
2 247563 9 130300000 141213431 Copy number TSC1 Tuberous sclerosis

Expression for Tuberous Sclerosis

Search GEO for disease gene expression data for Tuberous Sclerosis.

Pathways for Tuberous Sclerosis

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

(show top 50) (show all 100)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.28 TSC2 TSC1 STK11 RPS6KB1 RPS6KA1 RPS6
2
Show member pathways
13.93 VHL TSC2 TSC1 STK11 RPS6KA1 RHEB
3
Show member pathways
13.66 TSC2 TSC1 RPS6KB1 RPS6KA1 RPS6 RHEB
4
Show member pathways
13.66 RPS6KB1 RPS6KA1 RPS6 RAP1A PIK3CA MTOR
5
Show member pathways
13.2 VHL TSC2 TSC1 RPS6KA1 RHEB MTOR
6
Show member pathways
13.19 TSC2 TSC1 STK11 RPS6KB1 RPS6KA1 RPS6
7
Show member pathways
13.13 TSC2 TSC1 STK11 RPS6KB1 RPS6 RHEB
8
Show member pathways
13.07 TSC2 TSC1 RPS6KB1 RHEB PIK3CA MTOR
9
Show member pathways
13.06 TSC2 TSC1 STK11 RHEB MTOR AKT1
10
Show member pathways
13.06 TSC2 RPS6KB1 RHEB RAP1A PIK3CA MTOR
11
Show member pathways
13.05 TSC2 TSC1 RPS6KB1 RPS6KA1 RPS6 RHEB
12
Show member pathways
13 RPS6KB1 RPS6KA1 RPS6 RAP1A PIK3CA MTOR
13
Show member pathways
13 TSC2 RPS6KB1 RHEB PIK3CA MTOR EIF4EBP1
14 12.94 TSC2 TSC1 RHEB PIK3CA MTOR EIF4EBP1
15
Show member pathways
12.92 RPS6KB1 RPS6KA1 RPS6 RAP1A PIK3CA MTOR
16 12.9 VHL RPS6KB1 PIK3CA MTOR AKT1
17
Show member pathways
12.89 STK11 RPS6KA1 RPS6 RAP1A PIK3CA
18
Show member pathways
12.87 RPS6KB1 RPS6 MTOR EIF4EBP1 AKT1
19
Show member pathways
12.84 RPS6KA1 RAP1A PIK3CA MTOR EIF4EBP1 AKT1
20
Show member pathways
12.82 TSC2 TSC1 RPS6KB1 PIK3CA NF1 MTOR
21
Show member pathways
12.78 VHL RPS6KB1 RPS6 RAP1A PIK3CA NF1
22
Show member pathways
12.77 TSC2 RPS6KB1 RHEB PIK3CA MTOR AKT1
23
Show member pathways
12.68 TSC2 TSC1 RPS6KB1 RPS6KA1 RHEB PIK3CA
24
Show member pathways
12.65 RPS6KB1 RPS6KA1 RPS6 PIK3CA MTOR EIF4EBP1
25
Show member pathways
12.6 RAP1A PIK3CA MTOR EIF4EBP1 AKT1
26
Show member pathways
12.58 TSC2 TSC1 RPS6KB1 RHEB PIK3CA MTOR
27
Show member pathways
12.5 RPS6KA1 PIK3CA MTOR AKT1
28
Show member pathways
12.5 TSC2 TSC1 STK11 RPS6KB1 RPS6 RHEB
29
Show member pathways
12.47 TSC2 TSC1 RPS6KB1 RPS6 MTOR EIF4EBP1
30
Show member pathways
12.46 RPS6KB1 RPS6KA1 MTOR EIF4EBP1 AKT1
31
Show member pathways
12.46 RPS6KB1 RAP1A PIK3CA MTOR AKT1
32
Show member pathways
12.45 TSC2 TSC1 RPS6KB1 RPS6KA1 RPS6 RHEB
33 12.44 RPS6KB1 PIK3CA MTOR AKT1
34
Show member pathways
12.43 PIK3CA MTOR GFAP AKT1
35 12.43 RPS6KB1 RPS6 PIK3CA MTOR AKT1
36 12.43 TSC2 TSC1 RPS6KB1 RPS6 MTOR EIF4EBP1
37
Show member pathways
12.38 TSC2 TSC1 STK11 RPS6KB1 MTOR EIF4EBP1
38
Show member pathways
12.37 TSC2 TSC1 RPS6KB1 RPS6 RHEB PIK3CA
39 12.35 RPS6KB1 RPS6KA1 RAP1A MTOR EIF4EBP1 AKT1
40 12.35 TSC2 TSC1 RHEB PIK3CA MTOR EIF4EBP1
41
Show member pathways
12.32 RPS6KA1 RHEB PIK3CA MTOR AKT1
42
Show member pathways
12.32 RPS6KB1 RPS6KA1 RPS6 PIK3CA AKT1
43 12.31 TSC2 TSC1 STK11 RHEB RAP1A NF1
44
Show member pathways
12.29 TSC2 RPS6KB1 PIK3CA MTOR EIF4EBP1 AKT1
45 12.27 TSC2 RPS6KB1 RPS6KA1 RPS6 RAP1A MTOR
46
Show member pathways
12.27 TSC2 TSC1 STK11 RPS6KB1 RHEB PIK3CA
47
Show member pathways
12.23 TSC2 TSC1 RHEB MTOR
48
Show member pathways
12.22 RPS6KB1 RPS6KA1 RPS6 PIK3CA AKT1
49 12.22 TSC2 TSC1 STK11 RPS6KB1 RHEB PIK3CA
50
Show member pathways
12.2 RPS6KB1 RPS6KA1 MTOR EIF4EBP1 AKT1

GO Terms for Tuberous Sclerosis

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.89 VHL TSC2 TSC1 STK11 RPS6KB1 RPS6KA1
2 perinuclear region of cytoplasm GO:0048471 9.73 TSC2 TSC1 SYP RPS6KB1 RPS6 RAP1A
3 cytosol GO:0005829 9.55 VHL TSC2 TSC1 TBC1D7 STK11 RPS6KB1
4 TSC1-TSC2 complex GO:0033596 9.16 TSC2 TSC1

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 10.05 STK11 RPS6KB1 RPS6KA1 PIK3CA MTOR AKT1
2 protein phosphorylation GO:0006468 10.04 STK11 RPS6KB1 RPS6KA1 PIK3CA MTOR AKT1
3 negative regulation of apoptotic process GO:0043066 10.03 VHL RPS6KB1 RPS6KA1 RPS6 AKT1
4 negative regulation of cell proliferation GO:0008285 10 VHL TSC2 TSC1 STK11 NF1
5 positive regulation of GTPase activity GO:0043547 9.95 TSC2 TBC1D7 RAP1A NF1 CCL26
6 peptidyl-serine phosphorylation GO:0018105 9.86 RPS6KB1 PKD1 MTOR AKT1
7 regulation of translation GO:0006417 9.84 TSC1 RPS6KB1 EIF4EBP1 AKT1
8 cell cycle arrest GO:0007050 9.81 STK11 RHEB PKD1 MTOR
9 liver development GO:0001889 9.79 PKD1 PIK3CA NF1
10 negative regulation of protein kinase activity GO:0006469 9.79 TSC2 NF1 AKT1
11 positive regulation of smooth muscle cell proliferation GO:0048661 9.76 RPS6KB1 MTOR AKT1
12 positive regulation of endothelial cell proliferation GO:0001938 9.71 NF1 MTOR CCL26 AKT1
13 germ cell development GO:0007281 9.67 RPS6KB1 MTOR AKT1
14 negative regulation of insulin receptor signaling pathway GO:0046627 9.65 TSC2 TSC1 RPS6KB1
15 regulation of protein kinase B signaling GO:0051896 9.64 STK11 MTOR
16 insulin-like growth factor receptor signaling pathway GO:0048009 9.64 TSC2 AKT1
17 positive regulation of lipid biosynthetic process GO:0046889 9.63 MTOR AKT1
18 phosphatidylinositol 3-kinase signaling GO:0014065 9.63 PIK3CA NF1 AKT1
19 regulation of cell-matrix adhesion GO:0001952 9.62 TSC1 NF1
20 protein kinase B signaling GO:0043491 9.62 TSC2 RPS6KB1 PIK3CA AKT1
21 response to fluid shear stress GO:0034405 9.61 PKD1 AKT1
22 negative regulation of TOR signaling GO:0032007 9.61 TSC2 TSC1 TBC1D7
23 regulation of glycogen biosynthetic process GO:0005979 9.59 MTOR AKT1
24 spinal cord development GO:0021510 9.56 PKD1 NF1 MTOR AKT1
25 negative regulation of cell size GO:0045792 9.54 TSC1 MTOR AKT1
26 activation-induced cell death of T cells GO:0006924 9.52 RPS6 AKT1
27 negative regulation of macroautophagy GO:0016242 9.46 TSC1 PIK3CA MTOR AKT1
28 TOR signaling GO:0031929 9.35 RPS6KB1 RPS6 MTOR EIF4EBP1 AKT1
29 anoikis GO:0043276 9.02 TSC2 STK11 PIK3CA MTOR AKT1

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

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.85 STK11 RPS6KB1 RPS6KA1 PIK3CA MTOR AKT1
2 protein kinase activity GO:0004672 9.83 STK11 RPS6KB1 RPS6KA1 MTOR AKT1
3 protein kinase binding GO:0019901 9.63 RPS6 RHEB PKD1 MTOR DCX AKT1
4 protein binding GO:0005515 9.6 VHL TSC2 TSC1 TBC1D7 STK11 RPS6KB1
5 protein phosphatase 2A binding GO:0051721 9.5 RPS6KB1 EIF4EBP1 AKT1
6 protein serine/threonine/tyrosine kinase activity GO:0004712 9.43 RPS6KB1 RPS6KA1 AKT1
7 protein serine/threonine kinase activity GO:0004674 9.43 STK11 RPS6KB1 RPS6KA1 PIK3CA MTOR AKT1
8 ribosomal protein S6 kinase activity GO:0004711 9.4 RPS6KB1 RPS6KA1

Sources for Tuberous Sclerosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....