MCID: TBR001
MIFTS: 69

Tuberous Sclerosis

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

Aliases & Classifications for Tuberous Sclerosis

MalaCards integrated aliases for Tuberous Sclerosis:

Name: Tuberous Sclerosis 12 74 53 54 42 44 15 39 71 32
Tuberous Sclerosis Syndrome 12 29 6
Bourneville's Disease 12 74
Tuberous Sclerosis 1 71
Tuberose Sclerosis 12
Cerebral Sclerosis 12
Epiloia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:13515
ICD9CM 34 759.5
MeSH 44 D014402
NCIt 50 C3424
SNOMED-CT 67 157033002
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 Everolimus have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and skin, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.

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 819)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease, infantile severe, with tuberous sclerosis 33.5 TSC2 PKD1
2 tuberous sclerosis 1 33.3 TSC2 TSC1 TBC1D7 STK11 RPS6KB1 RPS6KA1
3 tuberous sclerosis 2 33.2 TSC2 TSC1 STK11 RPS6KB1 RPS6KA1 RPS6
4 lymphangioleiomyomatosis 33.1 TSC2 TSC1 RPS6KB1 RPS6 MTOR
5 subependymal giant cell astrocytoma 32.7 TSC2 TSC1 SYP S100B RHEB MTOR
6 kidney angiomyolipoma 32.5 TSC2 TSC1 TBC1D7 RPS6KB1 RPS6 RHEB
7 angiomyolipoma 32.5 TSC2 TSC1 MTOR CCL26
8 hemimegalencephaly 32.5 RPS6 RHEB PIK3CA MTOR GFAP CCL26
9 lennox-gastaut syndrome 32.4 TSC2 TSC1 DCX
10 spinal cancer 32.3 SYP NF1 GFAP
11 congenital heart defects, hamartomas of tongue, and polysyndactyly 32.2 TSC2 TSC1 STK11 CCL26
12 malignant astrocytoma 32.1 S100B NF1 GFAP AKT1
13 pilocytic astrocytoma 32.0 SYP S100B PIK3CA NF1 MTOR GFAP
14 polycystic kidney disease 31.8 TSC2 TSC1 PKD1 MTOR AKT1
15 renal cell carcinoma, nonpapillary 31.6 TSC2 TSC1 RHEB PIK3CA MTOR EIF4EBP1
16 cystic kidney disease 31.4 TSC2 TSC1 PKD1 MTOR CCL26
17 adenoma 31.4 TSC1 SYP PIK3CA AKT1
18 obstructive hydrocephalus 31.3 TSC2 TSC1 SYP NF1 GFAP
19 autosomal dominant polycystic kidney disease 31.2 TSC2 TSC1 PKD1 MTOR
20 polycystic liver disease 1 with or without kidney cysts 31.2 TSC2 TSC1 PKD1
21 sturge-weber syndrome 31.2 TSC2 PIK3CA NF1
22 hepatic angiomyolipoma 31.2 TSC2 MTOR
23 polycystic kidney disease 1 with or without polycystic liver disease 31.2 TSC2 TSC1 PKD1 MTOR AKT1
24 macrodactyly 31.1 TSC1 PIK3CA
25 neurofibroma 31.1 SYP S100B NF1
26 chordoma 31.1 S100B MTOR GFAP AKT1
27 von hippel-lindau syndrome 31.1 TSC2 SYP PKD1 NF1
28 cellular ependymoma 31.0 SYP S100B GFAP
29 hemangioma 31.0 TSC2 SYP PKD1 MTOR AKT1
30 angiomatosis 31.0 TSC2 PIK3CA CCL26
31 glioblastoma 30.9 RPS6KB1 PIK3CA NF1 MTOR GFAP AKT1
32 kidney cancer 30.8 TSC2 PIK3CA MTOR AKT1
33 subependymoma 30.7 TSC2 SYP GFAP
34 focal cortical dysplasia, type ii 30.7 TSC2 TSC1 RHEB MTOR GFAP
35 meningioma, familial 30.6 SYP S100B PIK3CA NF1 GFAP AKT1
36 pleomorphic xanthoastrocytoma 30.6 SYP S100B NF1 GFAP
37 neurilemmoma 30.6 S100B NF1 GFAP AKT1
38 brain cancer 30.6 SYP PIK3CA NF1 GFAP AKT1
39 benign ependymoma 30.6 TSC2 TSC1 TBC1D7 SYP RPS6KB1 RHEB
40 medulloblastoma 30.5 TSC2 SYP S100B PIK3CA NF1 MTOR
41 chordoid meningioma 30.5 SYP S100B GFAP
42 aortic disease 30.5 TSC2 TSC1 RPS6KB1 CCL26
43 optic nerve glioma 30.4 S100B NF1 GFAP
44 dysembryoplastic neuroepithelial tumor 30.4 SYP S100B GFAP
45 papilloma of choroid plexus 30.4 SYP S100B GFAP
46 cowden syndrome 30.4 TSC2 TSC1 STK11 RPS6KB1 RPS6 RHEB
47 diffuse astrocytoma 30.4 NF1 GFAP AKT1
48 chiari malformation 30.4 SYP GFAP
49 ganglioneuroma 30.4 SYP S100B GFAP
50 neuroma 30.4 S100B NF1 GFAP

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, headache, syncope, pain, chronic pain, sciatica, vertigo/dizziness, sleeplessness

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

26 (show all 40)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.61 PIK3CA MTOR
2 Decreased viability GR00055-A-2 10.61 PIK3CA MTOR
3 Decreased viability GR00221-A-1 10.61 AKT1 NF1 PIK3CA RPS6KA1 MTOR RHEB
4 Decreased viability GR00221-A-2 10.61 AKT1 NF1 PIK3CA RPS6KA1 TSC1
5 Decreased viability GR00221-A-3 10.61 AKT1 RPS6KA1 TSC1
6 Decreased viability GR00221-A-4 10.61 AKT1 NF1 PIK3CA RPS6KA1 MTOR
7 Decreased viability GR00249-S 10.61 AKT1 NF1
8 Decreased viability GR00301-A 10.61 RPS6KA1 TSC1 RPS6KB1
9 Decreased viability GR00342-S-1 10.61 RPS6KA1 MTOR
10 Decreased viability GR00342-S-2 10.61 MTOR
11 Decreased viability GR00381-A-1 10.61 RPS6KB1
12 Decreased viability GR00386-A-1 10.61 NF1 RPS6KA1 RHEB
13 Decreased viability GR00402-S-2 10.61 PIK3CA RPS6KB1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10.37 MTOR RHEB
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.37 PIK3CA
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 10.37 TSC1
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-157 10.37 PIK3CA
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 10.37 AKT1 MTOR PIK3CA RHEB
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 10.37 PIK3CA
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.37 MTOR RHEB
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 10.37 AKT1 PIK3CA
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-190 10.37 PIK3CA
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 10.37 TSC1
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.37 TSC1
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.37 PIK3CA RHEB
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 10.37 TSC1
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 10.37 AKT1 MTOR PIK3CA RHEB
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-49 10.37 PIK3CA
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-50 10.37 AKT1
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.37 MTOR PIK3CA
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-57 10.37 RHEB
32 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 10.37 RHEB
33 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 10.37 MTOR
34 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 10.37 AKT1
35 Decreased shRNA abundance (Z-score < -2) GR00366-A-82 10.37 TSC1
36 Decreased cell migration GR00055-A-1 9.96 RPS6KA1 AKT1 TSC1
37 Decreased cell migration GR00055-A-3 9.96 MTOR PIK3CA PKD1
38 Decreased viability with paclitaxel GR00179-A-1 9.02 MTOR RPS6KB1
39 Decreased viability with paclitaxel GR00179-A-2 9.02 MTOR
40 Decreased viability with paclitaxel GR00179-A-3 9.02 MTOR RPS6KB1

MGI Mouse Phenotypes related to Tuberous Sclerosis:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.36 AKT1 EIF4EBP1 GFAP MTOR NF1 PIK3CA
2 behavior/neurological MP:0005386 10.35 AKT1 DCX GFAP MTOR NF1 PIK3CA
3 cardiovascular system MP:0005385 10.34 AKT1 EIF4EBP1 GFAP MTOR NF1 PIK3CA
4 growth/size/body region MP:0005378 10.3 AKT1 DCX EIF4EBP1 GFAP MTOR NF1
5 homeostasis/metabolism MP:0005376 10.28 AKT1 EIF4EBP1 GFAP MTOR NF1 PIK3CA
6 endocrine/exocrine gland MP:0005379 10.22 AKT1 MTOR NF1 PIK3CA PKD1 RHEB
7 mortality/aging MP:0010768 10.21 AKT1 DCX EIF4EBP1 GFAP MTOR NF1
8 embryo MP:0005380 10.19 AKT1 MTOR NF1 PIK3CA PKD1 RHEB
9 integument MP:0010771 10.06 AKT1 NF1 PIK3CA PKD1 RPS6 S100B
10 muscle MP:0005369 10.06 AKT1 EIF4EBP1 GFAP MTOR NF1 PIK3CA
11 nervous system MP:0003631 9.97 AKT1 DCX GFAP MTOR NF1 PIK3CA
12 neoplasm MP:0002006 9.86 AKT1 NF1 PIK3CA PKD1 RPS6KB1 STK11
13 normal MP:0002873 9.65 AKT1 GFAP MTOR NF1 PKD1 RHEB
14 reproductive system MP:0005389 9.32 AKT1 DCX NF1 PIK3CA PKD1 RHEB

Drugs & Therapeutics for Tuberous Sclerosis

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

(show top 50) (show all 79)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
2
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
3
Vigabatrin Approved Phase 4 60643-86-9, 68506-86-5 5665
4 Antiparasitic Agents Phase 4
5 Antiprotozoal Agents Phase 4
6 Antimalarials Phase 4
7 Anticonvulsants Phase 4
8 Neurotransmitter Agents Phase 4
9 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
10
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
11
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
12
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
13
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
14
Phenobarbital Approved, Investigational Phase 3 50-06-6 4763
15
Clobazam Approved, Illicit Phase 3 22316-47-8 2789
16
Clonazepam Approved, Illicit Phase 3 1622-61-3 2802
17
Phenytoin Approved, Vet_approved Phase 3 57-41-0 1775
18
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
19
Topiramate Approved Phase 3 97240-79-4 5284627
20
Carbamazepine Approved, Investigational Phase 3 298-46-4 2554
21
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
22
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030
23
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
24 Strawberry Approved Phase 3
25
Ethanol Approved Phase 3 64-17-5 702
26
Melatonin Approved, Nutraceutical, Vet_approved Phase 3 73-31-4 896
27
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 134070 5280453
28
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
29 Methylprednisolone Acetate Phase 3
30 Protective Agents Phase 3
31 Antioxidants Phase 3
32 Immunosuppressive Agents Phase 3
33 Immunologic Factors Phase 3
34 Nutrients Phase 3
35 Micronutrients Phase 3
36 Trace Elements Phase 3
37 Hormones Phase 3
38 Vitamins Phase 3
39 Calcium, Dietary Phase 3
40 Vasoconstrictor Agents Phase 3
41 Anti-Infective Agents Phase 2, Phase 3
42 Anti-Bacterial Agents Phase 2, Phase 3
43 Antifungal Agents Phase 2, Phase 3
44 Antibiotics, Antitubercular Phase 2, Phase 3
45 Pharmaceutical Solutions Phase 3
46 Epidiolex Phase 3
47
Calcium Nutraceutical Phase 3 7440-70-2 271
48
Propranolol Approved, Investigational Phase 2 525-66-6 4946
49
Simvastatin Approved Phase 1, Phase 2 79902-63-9 54454
50
Coal tar Approved Phase 1, Phase 2 8007-45-2

Interventional clinical trials:

(show top 50) (show all 67)
# 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 Completed NCT03525834 Phase 4 everolimus
4 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
5 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
6 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
7 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
8 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
9 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
10 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
11 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
12 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
13 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)
14 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
15 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
16 Efficacy and Safety Study of Vatiquinone for the Treatment of Mitochondrial Disease Subjects With Refractory Epilepsy Recruiting NCT04378075 Phase 2, Phase 3 Vatiquinone
17 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
18 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
19 An Open-label, Randomized Trial to Assess the Safety, Pharmacokinetics, and Exploratory Efficacy of Adjunctive Cannabidiol Oral Solution (GWP42003-P) Compared With Standard of Care Antiepileptic Therapy, in Patients Age 1 Month to Less Than 12 Months of Age With Tuberous Sclerosis Complex Who Experience Inadequately-controlled Seizures Not yet recruiting NCT04485104 Phase 3 GWP42003-P;Standard of care
20 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
21 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
22 TRON: A Randomised, Double Blind, Placebo-controlled Study of RAD001 (Everolimus) in the Treatment of Neurocognitive Problems in Tuberous Sclerosis Unknown status NCT01954693 Phase 2 Placebo;Everolimus (RAD001)
23 A Pilot Study To Evaluate The Effects of Everolimus on Brain mTOR Activity and Cortical Hyperexcitability in TSC and FCD Completed NCT02451696 Phase 2 Everolimus
24 Rapalogues for Autism Phenotype in TSC: A Feasibility Study Completed NCT01929642 Phase 2 Sirolimus;Everolimus
25 RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457964 Phase 1, Phase 2 RAD001
26 Rapamycin Therapy of Angiomyolipomas in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457808 Phase 2 Rapamycin, sirolimus
27 Randomized Double-Blind Phase 2 Trial Of RAD001 For Neurocognition In Individuals With Tuberous Sclerosis Complex Completed NCT01289912 Phase 2 RAD001;Placebo
28 Everolimus (RAD001)Therapy of Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex Completed NCT00411619 Phase 1, Phase 2 Everolimus
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 Everolimus (RAD001) Therapy for Epilepsy in Patients With Tuberous Sclerosis Complex Completed NCT01070316 Phase 1, Phase 2 Everolimus
31 Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers: Pilot Trial Completed NCT02104011 Phase 2 Propranolol
32 The Safety of Simvastatin (SOS) in Patients With Pulmonary Lymphangioleiomyomatosis (LAM) and With Tuberous Sclerosis Complex (TSC) Completed NCT02061397 Phase 1, Phase 2 Simvastatin;Sirolimus Oral Product;Everolimus Oral Product
33 Phase II Study of Topical Rapamycin to Erase Angiofibromas in TSC-Multicenter Evaluation of a Novel Therapy Completed NCT01526356 Phase 2 Placebo;Rapamycin;Rapamycin
34 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
35 Stopping TSC Onset and Progression 2: Epilepsy Prevention in TSC Infants Recruiting NCT04595513 Phase 1, Phase 2 TAVT-18 (sirolimus);Placebo
36 A Phase 2 Open-label 12-Week Trial of Adjunctive Ganaxolone Treatment (Part A) in Tuberous Sclerosis Complex-related Epilepsy Followed by Long-term Treatment (Part B) Recruiting NCT04285346 Phase 2 Ganaxolone
37 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
38 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
39 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 Active, not recruiting NCT02849457 Phase 2 Vigabatrin;Placebo
40 Topical Rapamycin Therapy to Alleviate Cutaneous Manifestations of Tuberous Sclerosis Complex and Neurofibromatosis 1 Completed NCT01031901 Phase 1 Skincerity;Skincerity plus sirolimus/rapamycin;Skinercity plus sirolimus/rapamycin
41 Tuberous Sclerosis Complex: Facial Angiofibroma Skin Cream Completed NCT01853423 Phase 1 Rapamune
42 Clinical Presentation and Renal Outcome of Patients With Tuberous Sclerosis Complex and/or Renal Angiomyolipoma in the Great West Region of France Unknown status NCT02887781
43 Long-term, Prospective Study Evaluating Clinical and Molecular Biomarkers of Epileptogenesis in a Genetic Model of Epilepsy - Tuberous Sclerosis Complex Unknown status NCT02098759
44 The Cognitive Variability in Neurofibromatosis Type I and Tuberous Sclerosis Complex Monozygotic Twins Unknown status NCT02436746
45 Characterizing Sleep Disorders in Children and Adults With Tuberous Sclerosis Complex (TSC) Unknown status NCT03326765
46 Longitudinal Study to Identify Early Biomarkers of Autism Spectrum Disorder (ASD) in Infants With Tuberous Sclerosis Complex (TSC) Completed NCT01780441
47 Tuberous Sclerosis Complex Natural History Study: Renal Manifestations Completed NCT00598455
48 Potential EEG Biomarkers and Antiepileptogenic Strategies for Epilepsy in TSC Completed NCT01767779
49 Early Behavioral Intervention to Improve Social Communication Function in Infants With Tuberous Sclerosis Complex Completed NCT02687633
50 Effect of Fasting on the Size of Lymphangioleiomyomas in Patients With Lymphangioleiomyomatosis Completed NCT00552955

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
Brain, Kidney, Skin, Smooth Muscle, Skeletal Muscle, Breast, Uterus

Publications for Tuberous Sclerosis

Articles related to Tuberous Sclerosis:

(show top 50) (show all 7928)
# Title Authors PMID Year
1
50 Years Ago in The Journal of Pediatrics: Tuberous Sclerosis: From Phenotype to Genotype. 42 61
32977871 2020
2
A novel TSC2 c.4511 T > C missense variant associated with tuberous sclerosis complex. 61 42
32917147 2020
3
Wunderlichs syndrome in patient with sporadic bilateral angiomyolipomas - case report. 42
33445926 2020
4
Thoracic aortic disease in tuberous sclerosis complex: molecular pathogenesis and potential therapies in Tsc2+/- mice. 61 54
20159776 2010
5
Biallelic TSC gene inactivation in tuberous sclerosis complex. 61 54
20498439 2010
6
Sirolimus and tuberous sclerosis-associated renal angiomyolipomas. 54 61
20457704 2010
7
Animal models of lymphangioleiomyomatosis (LAM) and tuberous sclerosis complex (TSC). 61 54
20235887 2010
8
TSC1 loss synergizes with KRAS activation in lung cancer development in the mouse and confers rapamycin sensitivity. 54 61
19966866 2010
9
Noninvasive testing, early surgery, and seizure freedom in tuberous sclerosis complex. 54 61
20124204 2010
10
RAD 001 (everolimus) prevents mTOR and Akt late re-activation in response to imatinib in chronic myeloid leukemia. 61 54
20014066 2010
11
Carboxy terminal tail of polycystin-1 regulates localization of TSC2 to repress mTOR. 61 54
20169078 2010
12
[Care continuity for patients with tuberous sclerosis complex (TSC) during transition from childhood to adulthood]. 61 54
20077806 2010
13
The evolutionarily conserved TSC/Rheb pathway activates Notch in tuberous sclerosis complex and Drosophila external sensory organ development. 61 54
20038815 2010
14
The tuberous sclerosis complex. 54 61
20146692 2010
15
Pancreatic endocrine tumors: expression profiling evidences a role for AKT-mTOR pathway. 61 54
19917848 2010
16
Antroquinonol displays anticancer potential against human hepatocellular carcinoma cells: a crucial role of AMPK and mTOR pathways. 61 54
19723512 2010
17
Phosphorylated hamartin-Hsp70 complex regulates apoptosis via mitochondrial localization. 54 61
20006582 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. 61 54
19918125 2009
21
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
22
Post-transcriptional regulation of chemokine receptor CXCR4 by estrogen in HER2 overexpressing, estrogen receptor-positive breast cancer cells. 54 61
18807177 2009
23
A non-canonical MEK/ERK signaling pathway regulates autophagy via regulating Beclin 1. 61 54
19520853 2009
24
TSC2/PKD1 contiguous gene syndrome: a report of 2 cases with emphasis on dermatopathologic findings. 61 54
19590422 2009
25
Tuberous sclerosis tumor suppressor complex-like complexes act as GTPase-activating proteins for Ral GTPases. 61 54
19520869 2009
26
Defects in cell polarity underlie TSC and ADPKD-associated cystogenesis. 61 54
19321600 2009
27
Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner. 61 54
19420259 2009
28
Amino acid regulation of TOR complex 1. 54 61
18765678 2009
29
A synaptic trek to autism. 61 54
19545994 2009
30
Unusual radiological presentation of tuberous sclerosis complex with leptomeningeal angiomatosis associated with a hypomorphic mutation in the TSC2 gene. 54 61
19258292 2009
31
Successful surgery in late onset epilepsy with tuberous sclerosis complex. 61 54
19349254 2009
32
Cardiac rhabdomyomas in tuberous sclerosis complex show apoptosis regulation and mTOR pathway abnormalities. 61 54
17990907 2009
33
Missense mutations to the TSC1 gene cause tuberous sclerosis complex. 61 54
18830229 2009
34
Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex. 61 54
19332694 2009
35
Neuropsychological attention deficits in tuberous sclerosis complex (TSC). 61 54
19215038 2009
36
PI3K/mTORC1 activation in hamartoma syndromes: therapeutic prospects. 61 54
19177005 2009
37
Recent advances in neurobiology of Tuberous Sclerosis Complex. 61 54
19028034 2009
38
Cardiac rhabdomyoma in tuberous sclerosis: hyperactive Erk signaling. 54 61
18037514 2009
39
A complex interplay between Akt, TSC2 and the two mTOR complexes. 54 61
19143635 2009
40
Therapeutic targeting of mTOR in tuberous sclerosis. 54 61
19143643 2009
41
Prevalence of tuberous sclerosis complex in Taiwan: a national population-based study. 54 61
19887839 2009
42
The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway. 54 61
18845692 2009
43
Characterization of the intrinsic and TSC2-GAP-regulated GTPase activity of Rheb by real-time NMR. 54 61
19176517 2009
44
Clinicopathological and immunohistochemical findings in an autopsy case of tuberous sclerosis complex. 61 54
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
Genetics and molecular biology of tuberous sclerosis complex. 54 61
19506736 2008
47
The G1556S-type tuberin variant suppresses tumor formation in tuberous sclerosis 2 mutant (Eker) rats despite its deficiency in mTOR inhibition. 61 54
18695678 2008
48
Role of TSC-mTOR pathway in diabetic nephropathy. 54 61
18926585 2008
49
The mTOR pathway and its role in human genetic diseases. 61 54
18598780 2008
50
Tuberous sclerosis complex proteins control axon formation. 54 61
18794346 2008

Variations for Tuberous Sclerosis

ClinVar genetic disease variations for Tuberous Sclerosis:

6 (show top 50) (show all 2370)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TSC2 NM_000548.5(TSC2):c.481+1G>T SNV Pathogenic 49321 rs45488500 16:2104442-2104442 16:2054441-2054441
2 TSC2 NM_000548.5(TSC2):c.598C>T (p.Gln200Ter) SNV Pathogenic 49376 rs45517115 16:2105519-2105519 16:2055518-2055518
3 TSC2 NM_000548.5(TSC2):c.599+1G>A SNV Pathogenic 49377 rs45460895 16:2105521-2105521 16:2055520-2055520
4 TSC2 NM_000548.5(TSC2):c.3214del (p.Ser1072fs) Deletion Pathogenic 49802 rs137854106 16:2129358-2129358 16:2079357-2079357
5 TSC2 NM_000548.5(TSC2):c.871dup (p.Leu291fs) Duplication Pathogenic 49932 rs137854052 16:2108766-2108767 16:2058765-2058766
6 TSC2 NM_000548.5(TSC2):c.4581dup (p.Glu1528Ter) Duplication Pathogenic 49838 rs137854329 16:2135239-2135240 16:2085238-2085239
7 TSC2 NM_000548.5(TSC2):c.3750C>G (p.Tyr1250Ter) SNV Pathogenic 49550 rs45517308 16:2131735-2131735 16:2081734-2081734
8 TSC1 NM_000368.5(TSC1):c.2446A>T (p.Lys816Ter) SNV Pathogenic 667420 rs1588299158 9:135777032-135777032 9:132901645-132901645
9 TSC1 NM_000368.5(TSC1):c.959_965del (p.Leu320fs) Deletion Pathogenic 667421 rs1588324615 9:135786904-135786910 9:132911517-132911523
10 TSC1 NM_000368.5(TSC1):c.733C>T (p.Arg245Ter) SNV Pathogenic 49091 rs118203434 9:135796754-135796754 9:132921367-132921367
11 TSC2 NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) SNV Pathogenic 12404 rs45517258 16:2126142-2126142 16:2076141-2076141
12 TSC2 NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) Deletion Pathogenic 12402 rs137854218 16:2138294-2138311 16:2088293-2088310
13 TSC2 NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) SNV Pathogenic 49960 rs45507199 16:2138295-2138295 16:2088294-2088294
14 TSC2 NM_000548.5(TSC2):c.4753_4763del (p.Lys1585fs) Deletion Pathogenic 562149 rs1567533189 16:2136284-2136294 16:2086283-2086293
15 TSC1 NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) SNV Pathogenic 48885 rs118203631 9:135779172-135779172 9:132903785-132903785
16 TSC2 NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) SNV Pathogenic 49153 rs45517169 16:2112983-2112983 16:2062982-2062982
17 TSC2 NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) SNV Pathogenic 12401 rs45516293 16:2134966-2134966 16:2084965-2084965
18 TSC2 NM_000548.5(TSC2):c.5024C>A (p.Pro1675Gln) SNV Likely pathogenic 535873 rs45483392 16:2137898-2137898 16:2087897-2087897
19 TSC2 NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser) SNV Likely pathogenic 49335 rs45517382 16:2136835-2136835 16:2086834-2086834
20 TSC1 NM_000368.4(TSC1):c.1698_1704delinsGC (p.Ala567fs) Indel Likely pathogenic 440863 rs1554815914 9:135781261-135781267 9:132905874-132905880
21 TSC1 NM_000368.4(TSC1):c.2208+2T>A SNV Likely pathogenic 419826 rs1064794132 9:135779036-135779036 9:132903649-132903649
22 TSC2 NM_000548.5(TSC2):c.1792T>C (p.Tyr598His) SNV Likely pathogenic 49175 rs45517201 16:2120532-2120532 16:2070531-2070531
23 TSC2 NM_000548.5(TSC2):c.4569+12C>T SNV Uncertain significance 49856 rs45517350 16:2135039-2135039 16:2085038-2085038
24 TSC2 NM_000548.5(TSC2):c.-34G>A SNV Uncertain significance 378770 rs559641280 16:2098062-2098062 16:2048061-2048061
25 TSC2 NM_000548.5(TSC2):c.848+5G>T SNV Uncertain significance 885645 16:2107184-2107184 16:2057183-2057183
26 TSC2 NM_000548.5(TSC2):c.3397+15C>T SNV Uncertain significance 445392 rs202246408 16:2129685-2129685 16:2079684-2079684
27 TSC2 NM_000548.5(TSC2):c.5130C>A (p.Phe1710Leu) SNV Uncertain significance 885963 16:2138110-2138110 16:2088109-2088109
28 TSC2 NM_000548.5(TSC2):c.5259+15G>A SNV Uncertain significance 885964 16:2138341-2138341 16:2088340-2088340
29 TSC2 NM_000548.5(TSC2):c.79A>G (p.Asn27Asp) SNV Uncertain significance 886606 16:2098695-2098695 16:2048694-2048694
30 TSC2 NM_000548.5(TSC2):c.1361+13C>T SNV Uncertain significance 516775 rs900870796 16:2112614-2112614 16:2062613-2062613
31 TSC2 NM_000548.5(TSC2):c.2203T>G (p.Ser735Ala) SNV Uncertain significance 884831 16:2122347-2122347 16:2072346-2072346
32 TSC2 NM_000548.5(TSC2):c.3945A>G (p.Pro1315=) SNV Uncertain significance 884981 16:2133757-2133757 16:2083756-2083756
33 TSC2 NM_000548.5(TSC2):c.*86T>G SNV Uncertain significance 885118 16:2138697-2138697 16:2088696-2088696
34 TSC2 NM_000548.5(TSC2):c.-82G>T SNV Uncertain significance 885578 16:2098014-2098014 16:2048013-2048013
35 TSC1 NM_000368.4(TSC1):c.*1519del Deletion Uncertain significance 365473 rs886063607 9:135770103-135770103 9:132894716-132894716
36 TSC1 NM_000368.4(TSC1):c.*2658G>T SNV Uncertain significance 365441 rs886063594 9:135768964-135768964 9:132893577-132893577
37 TSC1 NM_000368.4(TSC1):c.2626-4_2626-3dup Duplication Uncertain significance 365511 rs1554813638 9:135772999-135773000 9:132897612-132897613
38 TSC1 NM_000368.4(TSC1):c.*2897A>G SNV Uncertain significance 365432 rs886063589 9:135768725-135768725 9:132893338-132893338
39 TSC1 NM_000368.4(TSC1):c.*2022G>T SNV Uncertain significance 365463 rs568052856 9:135769600-135769600 9:132894213-132894213
40 TSC1 NM_000368.4(TSC1):c.*4159G>T SNV Uncertain significance 365401 rs886063571 9:135767463-135767463 9:132892076-132892076
41 TSC1 NM_000368.4(TSC1):c.*3248_*3250del Deletion Uncertain significance 365424 rs886063582 9:135768372-135768374 9:132892985-132892987
42 TSC1 NM_000368.4(TSC1):c.*2439C>A SNV Uncertain significance 365454 rs886063601 9:135769183-135769183 9:132893796-132893796
43 TSC1 NM_000368.4(TSC1):c.*4248C>A SNV Uncertain significance 365397 rs886063567 9:135767374-135767374 9:132891987-132891987
44 TSC1 NM_000368.4(TSC1):c.*583C>A SNV Uncertain significance 365494 rs886063615 9:135771039-135771039 9:132895652-132895652
45 TSC2 NM_000548.5(TSC2):c.1600-13C>G SNV Uncertain significance 318312 rs1800712 16:2115507-2115507 16:2065506-2065506
46 TSC2 NM_000548.5(TSC2):c.*23C>T SNV Uncertain significance 318339 rs774841226 16:2138634-2138634 16:2088633-2088633
47 TSC1 NM_000368.4(TSC1):c.108C>T (p.Asp36=) SNV Uncertain significance 365519 rs886063624 9:135802690-135802690 9:132927303-132927303
48 TSC1 NM_000368.4(TSC1):c.*2364T>A SNV Uncertain significance 365456 rs886063602 9:135769258-135769258 9:132893871-132893871
49 TSC1 NM_000368.4(TSC1):c.*3240G>T SNV Uncertain significance 365425 rs886063583 9:135768382-135768382 9:132892995-132892995
50 TSC1 NM_000368.4(TSC1):c.*3543C>A SNV Uncertain significance 365417 rs886063578 9:135768079-135768079 9:132892692-132892692

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 101)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.27 TSC2 TSC1 STK11 S100B RPS6KB1 RPS6KA1
2
Show member pathways
13.92 TSC2 TSC1 STK11 RPS6KA1 RHEB RAP1A
3
Show member pathways
13.66 RPS6KB1 RPS6KA1 RPS6 RAP1A PIK3CA MTOR
4
Show member pathways
13.47 TSC2 TSC1 RPS6KB1 MTOR EIF4EBP1 CCL26
5
Show member pathways
13.42 TSC2 TSC1 RPS6KB1 RPS6KA1 RPS6 RHEB
6
Show member pathways
13.18 TSC2 TSC1 STK11 RPS6KB1 RPS6KA1 RPS6
7
Show member pathways
13.17 TSC2 RPS6KB1 RHEB RAP1A PIK3CA MTOR
8
Show member pathways
13.12 TSC2 TSC1 STK11 RPS6KB1 RPS6 RHEB
9
Show member pathways
13.07 TSC2 TSC1 RPS6KB1 RHEB PIK3CA MTOR
10
Show member pathways
13.06 TSC2 TSC1 STK11 RHEB MTOR AKT1
11
Show member pathways
13.03 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
12.91 RPS6KB1 RPS6KA1 RPS6 RAP1A PIK3CA MTOR
16
Show member pathways
12.87 RPS6KB1 RPS6 MTOR EIF4EBP1 AKT1
17
Show member pathways
12.84 RPS6KA1 RAP1A PIK3CA MTOR EIF4EBP1 AKT1
18
Show member pathways
12.82 TSC2 TSC1 RPS6KB1 PIK3CA NF1 MTOR
19
Show member pathways
12.77 TSC2 RPS6KB1 RHEB PIK3CA MTOR AKT1
20
Show member pathways
12.77 RPS6KB1 RPS6 RAP1A PIK3CA NF1 MTOR
21 12.69 SYP S100B NF1 GFAP DCX
22
Show member pathways
12.67 TSC2 TSC1 RPS6KB1 RPS6KA1 RHEB PIK3CA
23
Show member pathways
12.64 RPS6KB1 RPS6KA1 RPS6 PIK3CA MTOR EIF4EBP1
24
Show member pathways
12.6 RAP1A PIK3CA MTOR EIF4EBP1 AKT1
25
Show member pathways
12.56 RPS6KB1 RAP1A PIK3CA MTOR AKT1
26
Show member pathways
12.56 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 PIK3CA MTOR GFAP AKT1
30 12.46 RPS6KB1 PIK3CA MTOR AKT1
31
Show member pathways
12.46 RPS6KB1 RPS6KA1 MTOR EIF4EBP1 AKT1
32
Show member pathways
12.46 TSC2 RPS6KB1 PIK3CA MTOR EIF4EBP1 AKT1
33
Show member pathways
12.45 TSC2 TSC1 RPS6KB1 RPS6KA1 RPS6 RHEB
34 12.43 RPS6KB1 RPS6 PIK3CA MTOR AKT1
35 12.42 TSC2 TSC1 RPS6KB1 RPS6 MTOR EIF4EBP1
36
Show member pathways
12.39 TSC2 TSC1 RPS6KB1 RPS6 RHEB PIK3CA
37
Show member pathways
12.37 TSC2 TSC1 STK11 RPS6KB1 MTOR EIF4EBP1
38 12.35 RPS6KB1 RPS6KA1 RAP1A MTOR EIF4EBP1 AKT1
39
Show member pathways
12.32 RPS6KA1 RHEB PIK3CA MTOR AKT1
40
Show member pathways
12.32 RPS6KB1 RPS6KA1 RPS6 PIK3CA AKT1
41 12.31 TSC2 TSC1 RHEB PIK3CA MTOR EIF4EBP1
42 12.31 TSC2 TSC1 STK11 RHEB RAP1A NF1
43 12.27 TSC2 RPS6KB1 RPS6KA1 RPS6 RAP1A MTOR
44
Show member pathways
12.27 TSC2 TSC1 STK11 RPS6KB1 RHEB PIK3CA
45
Show member pathways
12.22 RPS6KB1 RPS6KA1 MTOR EIF4EBP1 AKT1
46
Show member pathways
12.22 RPS6KB1 RPS6KA1 RPS6 PIK3CA AKT1
47 12.22 TSC2 TSC1 STK11 RPS6KB1 RHEB PIK3CA
48 12.19 RPS6KB1 RPS6 MTOR AKT1
49
Show member pathways
12.16 TSC2 RPS6KB1 RHEB MTOR EIF4EBP1
50 12.16 TSC2 RHEB PIK3CA MTOR 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 10.09 TSC2 TSC1 STK11 S100B RPS6KB1 RPS6KA1
2 perinuclear region of cytoplasm GO:0048471 9.56 TSC2 TSC1 SYP S100B RPS6KB1 RPS6
3 cytosol GO:0005829 9.55 TSC2 TSC1 TBC1D7 STK11 S100B RPS6KB1
4 TSC1-TSC2 complex GO:0033596 9.26 TSC2 TSC1

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 10.03 STK11 RPS6KB1 RPS6KA1 PIK3CA MTOR AKT1
2 protein phosphorylation GO:0006468 10 STK11 RPS6KB1 RPS6KA1 PIK3CA MTOR AKT1
3 positive regulation of GTPase activity GO:0043547 9.93 TSC2 TBC1D7 RAP1A NF1 CCL26
4 regulation of translation GO:0006417 9.85 TSC1 RPS6KB1 EIF4EBP1 AKT1
5 negative regulation of protein kinase activity GO:0006469 9.8 TSC2 NF1 AKT1
6 liver development GO:0001889 9.8 PKD1 PIK3CA NF1
7 peptidyl-serine phosphorylation GO:0018105 9.8 RPS6KB1 RPS6KA1 PKD1 MTOR AKT1
8 response to insulin GO:0032868 9.79 TSC1 RPS6KB1 MTOR
9 response to nutrient levels GO:0031667 9.78 TSC1 RPS6KB1 MTOR
10 positive regulation of endothelial cell proliferation GO:0001938 9.77 MTOR CCL26 AKT1
11 cellular response to organic cyclic compound GO:0071407 9.77 RPS6KB1 RAP1A AKT1
12 cell cycle arrest GO:0007050 9.76 STK11 RHEB PKD1 MTOR
13 positive regulation of smooth muscle cell proliferation GO:0048661 9.75 RPS6KB1 MTOR AKT1
14 negative regulation of insulin receptor signaling pathway GO:0046627 9.69 TSC2 TSC1 RPS6KB1
15 germ cell development GO:0007281 9.67 RPS6KB1 MTOR AKT1
16 phosphatidylinositol 3-kinase signaling GO:0014065 9.65 PIK3CA NF1 AKT1
17 regulation of glycogen biosynthetic process GO:0005979 9.62 MTOR AKT1
18 protein kinase B signaling GO:0043491 9.62 TSC2 RPS6KB1 PIK3CA AKT1
19 negative regulation of TOR signaling GO:0032007 9.61 TSC2 TSC1 TBC1D7
20 response to fluid shear stress GO:0034405 9.58 PKD1 AKT1
21 activation-induced cell death of T cells GO:0006924 9.57 RPS6 AKT1
22 spinal cord development GO:0021510 9.56 PKD1 NF1 MTOR AKT1
23 negative regulation of cell size GO:0045792 9.54 TSC1 MTOR AKT1
24 negative regulation of macroautophagy GO:0016242 9.46 TSC1 PIK3CA MTOR AKT1
25 TOR signaling GO:0031929 9.35 RPS6KB1 RPS6 MTOR EIF4EBP1 AKT1
26 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 protein binding GO:0005515 10.26 TSC2 TSC1 TBC1D7 SYP STK11 S100B
2 nucleotide binding GO:0000166 10.03 STK11 RPS6KB1 RPS6KA1 RHEB RAP1A PIK3CA
3 protein kinase activity GO:0004672 9.85 STK11 RPS6KB1 RPS6KA1 MTOR AKT1
4 kinase activity GO:0016301 9.85 STK11 RPS6KB1 RPS6KA1 PIK3CA MTOR AKT1
5 protein phosphatase 2A binding GO:0051721 9.5 RPS6KB1 EIF4EBP1 AKT1
6 protein kinase binding GO:0019901 9.43 RPS6 RHEB PKD1 MTOR DCX AKT1
7 ribosomal protein S6 kinase activity GO:0004711 9.4 RPS6KB1 RPS6KA1
8 protein serine/threonine/tyrosine kinase activity GO:0004712 9.33 RPS6KB1 RPS6KA1 AKT1
9 protein serine/threonine kinase activity GO:0004674 9.1 STK11 RPS6KB1 RPS6KA1 PIK3CA MTOR AKT1

Sources for Tuberous Sclerosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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