MCID: TBR001
MIFTS: 68

Tuberous Sclerosis

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Tuberous Sclerosis

MalaCards integrated aliases for Tuberous Sclerosis:

Name: Tuberous Sclerosis 11 52 75 53 41 43 14 71 31 33
Tuberous Sclerosis Syndrome 11 28 5
Bourneville's Disease 11 75
Epiloia 11 33
Bourneville Phakomatosis 33
Tuberous Sclerosis 1 71
Bourneville Disease 33
Tuberose Sclerosis 11
Cerebral Sclerosis 11
Pringle's Disease 33

Classifications:



External Ids:

Disease Ontology 11 DOID:13515
ICD9CM 34 759.5
MeSH 43 D014402
NCIt 49 C3424
SNOMED-CT 68 157033002
ICD10 31 Q85.1
ICD11 33 1903085809
UMLS 71 C0041341 C1854465

Summaries for Tuberous Sclerosis

NINDS: 52 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 tuberous sclerosis 1 and polycystic kidney disease, infantile severe, with tuberous sclerosis, and has symptoms including back pain, headache and pain. An important gene associated with Tuberous Sclerosis is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Doxycycline and Cannabidiol have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and kidney, and related phenotypes are Decreased viability and Decreased viability

MedlinePlus: 41 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

Disease Ontology: 11 A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.

Wikipedia: 75 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 1006)
# Related Disease Score Top Affiliating Genes
1 tuberous sclerosis 1 34.0 TSC2 TSC1 CCL26
2 polycystic kidney disease, infantile severe, with tuberous sclerosis 33.4 TSC2 PKD1
3 lymphangioleiomyomatosis 32.9 TSC2 TSC1 RPS6KB1 RPS6 MTOR
4 hemimegalencephaly 32.4 RHEB PIK3CA MTOR
5 angiomyolipoma 32.4 TSC2 TSC1 MTOR CCL26
6 congenital heart defects, hamartomas of tongue, and polysyndactyly 32.2 TSC2 TSC1 CCL26
7 subependymal giant cell astrocytoma 32.2 TSC2 TSC1 TBC1D7 SYP S100B RPS6KB1
8 renal cell carcinoma, papillary, 1 32.1 VHL RHEB PIK3CA MTOR AKT1
9 renal cell carcinoma, nonpapillary 32.1 VHL TSC2 TSC1 RHEB PIK3CA MTOR
10 kidney angiomyolipoma 31.9 TSC2 TSC1 TBC1D7 RPS6KB1 RPS6 RHEB
11 pilocytic astrocytoma 31.8 TSC1 SYP S100B NF1 GFAP DCX
12 ganglioglioma 31.8 TSC2 TSC1 SYP S100B NF1 GFAP
13 polycystic kidney disease 1 with or without polycystic liver disease 31.7 TSC2 TSC1 PKD1 MTOR
14 hydrocephalus 31.7 SYP S100B MTOR GFAP
15 autism spectrum disorder 31.6 TSC2 TSC1 RPS6KB1 RHEB NF1 MTOR
16 cystic kidney disease 31.6 VHL TSC2 TSC1 PKD1 MTOR CCL26
17 epilepsy 31.5 TSC2 TSC1 S100B MTOR GFAP DCX
18 polycystic kidney disease 31.5 VHL TSC2 TSC1 PKD1 MTOR CCL26
19 autism 31.5 TSC2 TSC1 RPS6KB1 RHEB NF1 MTOR
20 autosomal dominant polycystic kidney disease 31.4 TSC2 TSC1 PKD1 MTOR AKT1
21 focal cortical dysplasia, type ii 31.4 TSC2 TSC1 MTOR
22 perivascular epithelioid cell tumor 31.4 TSC2 TSC1 MTOR
23 kidney cancer 31.3 VHL TSC2 TSC1 PIK3CA MTOR
24 polycystic liver disease 1 with or without kidney cysts 31.3 TSC2 TSC1 PKD1
25 bap1 tumor predisposition syndrome 31.3 VHL TSC2 TSC1 STK11 NF1
26 brain cancer 31.3 TSC1 SYP PIK3CA NF1 GFAP AKT1
27 epithelioid type angiomyolipoma 31.2 TSC2 TSC1
28 inherited cancer-predisposing syndrome 31.2 VHL TSC2 TSC1 STK11 NF1
29 hepatic angiomyolipoma 31.2 TSC2 TSC1
30 status epilepticus 31.2 S100B MTOR GFAP
31 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 31.2 PIK3CA MTOR AKT1
32 obstructive hydrocephalus 31.1 TSC2 TSC1 SYP NF1 GFAP
33 neurofibromatosis, type i 31.1 VHL TSC2 TSC1 S100B NF1 MTOR
34 sturge-weber syndrome 31.1 TSC2 PIK3CA NF1
35 neuroendocrine tumor 31.1 SYP RPS6KB1 NF1 MTOR
36 birt-hogg-dube syndrome 31.1 TSC2 TSC1 MTOR
37 megalencephaly 31.1 TBC1D7 PIK3CA MTOR
38 peutz-jeghers syndrome 31.0 TSC2 TSC1 STK11
39 angiolipoma 31.0 TSC2 TSC1 PIK3CA
40 chordoma 31.0 S100B MTOR GFAP AKT1
41 neurofibroma 31.0 SYP S100B NF1
42 diffuse lipomatosis 30.9 TSC1 PIK3CA
43 cellular ependymoma 30.8 SYP S100B GFAP
44 glioblastoma 30.8 TSC2 RPS6KB1 PIK3CA NF1 MTOR GFAP
45 fragile x syndrome 30.7 TSC2 TSC1 RPS6KB1 RHEB NF1 MTOR
46 von hippel-lindau syndrome 30.7 VHL TSC2 SYP PKD1 NF1
47 plexiform neurofibroma 30.6 S100B NF1 AKT1
48 hemangioma 30.6 VHL TSC2 TSC1 SYP PKD1 MTOR
49 nevus, epidermal 30.6 PIK3CA NF1 MTOR AKT1
50 meningioma, familial 30.4 TSC1 SYP S100B PIK3CA 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:


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

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

25 (show all 30)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 11.13 MTOR PIK3CA
2 Decreased viability GR00055-A-2 11.13 MTOR PIK3CA
3 Decreased viability GR00221-A-1 11.13 RPS6KA1 RPS6KB1 VHL AKT1 MTOR NF1
4 Decreased viability GR00221-A-2 11.13 RPS6KA1 TSC1 VHL AKT1 NF1 PIK3CA
5 Decreased viability GR00221-A-3 11.13 RPS6KA1 TSC1 AKT1
6 Decreased viability GR00221-A-4 11.13 RPS6KA1 AKT1 MTOR NF1 PIK3CA
7 Decreased viability GR00249-S 11.13 VHL AKT1 NF1
8 Decreased viability GR00301-A 11.13 RPS6KA1 RPS6KB1 TSC1 VHL
9 Decreased viability GR00342-S-1 11.13 RPS6KA1 MTOR
10 Decreased viability GR00342-S-2 11.13 MTOR
11 Decreased viability GR00381-A-1 11.13 RPS6KB1
12 Decreased viability GR00386-A-1 11.13 RPS6KA1 NF1 RHEB
13 Decreased viability GR00402-S-2 11.13 RPS6KB1 PIK3CA
14 no effect GR00402-S-1 10.17 AKT1 CCL26 DCX EIF4EBP1 GFAP MTOR
15 no effect GR00402-S-2 10.17 AKT1 DCX EIF4EBP1 MTOR NF1 PKD1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.02 MTOR RHEB
17 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.02 TSC1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-127 10.02 TSC1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-213 10.02 AKT1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.02 TSC1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-60 10.02 AKT1 MTOR PIK3CA
22 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.02 RHEB
23 Increased shRNA abundance (Z-score > 2) GR00366-A-70 10.02 AKT1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.02 AKT1 MTOR
25 Increased cell migration GR00055-A-1 9.8 NF1
26 Increased cell migration GR00055-A-3 9.8 NF1 RPS6KA1
27 Decreased viability with paclitaxel GR00179-A-1 9.55 MTOR RPS6KB1
28 Decreased viability with paclitaxel GR00179-A-2 9.55 MTOR
29 Decreased viability with paclitaxel GR00179-A-3 9.55 MTOR RPS6KB1
30 Increased sensitivity to paclitaxel GR00112-A-0 8.96 VHL

MGI Mouse Phenotypes related to Tuberous Sclerosis:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.43 AKT1 CCL26 DCX EIF4EBP1 GFAP MTOR
2 growth/size/body region MP:0005378 10.36 AKT1 DCX EIF4EBP1 GFAP MTOR NF1
3 nervous system MP:0003631 10.34 AKT1 DCX GFAP MTOR NF1 PIK3CA
4 muscle MP:0005369 10.32 AKT1 EIF4EBP1 GFAP MTOR NF1 PIK3CA
5 normal MP:0002873 10.28 AKT1 GFAP MTOR NF1 PKD1 RHEB
6 endocrine/exocrine gland MP:0005379 10.21 AKT1 MTOR NF1 PIK3CA PKD1 RHEB
7 cellular MP:0005384 10.21 AKT1 EIF4EBP1 GFAP MTOR NF1 PIK3CA
8 neoplasm MP:0002006 10.2 AKT1 NF1 PIK3CA PKD1 RPS6KB1 STK11
9 embryo MP:0005380 10.14 AKT1 MTOR NF1 PIK3CA PKD1 RHEB
10 cardiovascular system MP:0005385 10.13 AKT1 EIF4EBP1 GFAP MTOR NF1 PIK3CA
11 liver/biliary system MP:0005370 10.1 AKT1 NF1 PKD1 RPS6 STK11 TSC1
12 behavior/neurological MP:0005386 10.1 AKT1 CCL26 DCX GFAP MTOR NF1
13 reproductive system MP:0005389 9.9 AKT1 DCX NF1 PIK3CA PKD1 RHEB
14 mortality/aging MP:0010768 9.8 AKT1 DCX EIF4EBP1 GFAP MTOR NF1
15 integument MP:0010771 9.32 AKT1 NF1 PIK3CA PKD1 RPS6 S100B

Drugs & Therapeutics for Tuberous Sclerosis

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

(show top 50) (show all 81)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
2
Cannabidiol Approved, Investigational Phase 4 13956-29-1 521372 644019
3
Everolimus Approved Phase 4 159351-69-6 70789204 6442177
4
Vigabatrin Approved Phase 4 60643-86-9, 68506-86-5 5665
5 Antimalarials Phase 4
6 Antiprotozoal Agents Phase 4
7 Antiparasitic Agents Phase 4
8 Pharmaceutical Solutions Phase 4
9 Immunosuppressive Agents Phase 4
10 Immunologic Factors Phase 4
11 Liver Extracts Phase 4
12 Anticonvulsants Phase 4
13 Neurotransmitter Agents Phase 4
14
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
15
Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
16
Prednisolone Approved, Vet_approved Phase 3 50-24-8 4894 5755
17
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5 1875
18
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 4159 6741
19
Clobazam Approved, Illicit Phase 3 22316-47-8 2789
20
Carbamazepine Approved, Investigational Phase 3 298-46-4 2554
21
Topiramate Approved Phase 3 97240-79-4 5284627
22
Clonazepam Approved, Illicit Phase 3 1622-61-3 2802
23
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
24
Phenytoin Approved, Vet_approved Phase 3 57-41-0 1775
25
Phenobarbital Approved, Investigational Phase 3 50-06-6 4763
26 Strawberry Approved Phase 3
27
Ethanol Approved Phase 3 64-17-5 702
28
Ganaxolone Approved, Investigational Phase 3 38398-32-2 22023730 6918305
29
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
30
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030
31
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
32
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 5280453
33
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7 4897
34
Methylprednisolone Acetate Phase 3 584547
35 Micronutrients Phase 3
36 Calcium, Dietary Phase 3
37 Vitamins Phase 3
38 Trace Elements Phase 3
39 Hormones Phase 3
40 Vasoconstrictor Agents Phase 3
41 Anti-Infective Agents Phase 3
42 Antifungal Agents Phase 3
43 Antibiotics, Antitubercular Phase 3
44 Anti-Bacterial Agents Phase 3
45
Calcium Nutraceutical Phase 3 7440-70-2 271
46
Acetylsalicylic acid Approved, Vet_approved Phase 2 50-78-2 2244
47
Propranolol Approved, Investigational Phase 2 318-98-9, 525-66-6 62882 4946
48
Simvastatin Approved Phase 1, Phase 2 79902-63-9 54454
49
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
50
Tannic acid Approved Phase 2 1401-55-4 16129878 16129778

Interventional clinical trials:

(show top 50) (show all 82)
# Name Status NCT ID Phase Drugs
1 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
2 CLINICAL TRIAL TO DETERMINE THE EFFICACY AND SAFETY OF RAPAMYCIN IN ANGIOMYOLIPOMAS IN PATIENTS WITH TUBEROUS SCLEROSIS Completed NCT01217125 Phase 4 Sirolimus
3 A Randomised, Double Blind, Placebo Controlled Trial of Doxycycline in Lymphangioleiomyomatosis. Completed NCT00989742 Phase 4 Doxycycline;Placebo
4 A Long-term Safety Study to Assess the Potential for Chronic Liver Injury in Participants Treated With Epidiolex (Cannabidiol) Oral Solution Recruiting NCT05044819 Phase 4 Cannabidiol
5 Phase IV, Prospective Single Arm Study of Safety and Efficacy of Votubia (Everolimus) in Taiwanese Adults With Tuberous Sclerosis Complex Who Have Renal Angiomyolipoma Not yet recruiting NCT05252585 Phase 4 Everolimus
6 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
7 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
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 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)
10 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
11 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
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 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 Completed NCT03826628 Phase 2, Phase 3 rapamycin;placebo
14 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
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 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
17 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 NCT02544750 Phase 3 GWP42003-P
18 Randomized, Placebo-controlled, Double-blind and Double-dummy Clinical Trial Comparing the Safety, Tolerability, and Efficacy of Vigabatrin and Rapamycin in a Preventive Treatment of Infants With Tuberous Sclerosis Complex Recruiting NCT04987463 Phase 2, Phase 3 Vigabatrin;Rapamycin;Placebo
19 Placebo-controlled Comparative Study of NPC-12Y Gel in Patients With Skin Lesions Associated With Tuberous Sclerosis Complex Recruiting NCT05495425 Phase 3 NPC-12Y gel;NPC-12Y placebo gel
20 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 Antiseizure Medication, in Patients Age 1 Month to Less Than 12 Months of Age With Tuberous Sclerosis Complex Who Experience Inadequately-controlled Seizures Recruiting NCT04485104 Phase 3 GWP42003-P;SOC
21 A Phase 3, Double-blind, Randomized, Placebo-controlled Trial of Adjunctive Ganaxolone (GNX) Treatment in Children and Adults With Tuberous Sclerosis Complex (TSC)-Related Epilepsy Recruiting NCT05323734 Phase 3 GNX oral suspension, TID;Placebo
22 Efficacy and Safety Study of Vatiquinone for the Treatment of Mitochondrial Disease Subjects With Refractory Epilepsy Recruiting NCT04378075 Phase 2, Phase 3 Vatiquinone
23 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
24 Multicenter, Randomized, Double-blind, Placebo Controlled Study to Assess the Efficacy and Safety of Rapamycin in Drug Resistant Epilepsy Associated With TSC Not yet recruiting NCT05534672 Phase 3
25 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. Withdrawn NCT02860494 Phase 2, Phase 3 Everolimus;Placebo
26 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
27 A Placebo-controlled Study of Efficacy & Safety of Aspirin as an add-on Treatment in Patients With Tuberous Sclerosis Complex (TSC) & Refractory Seizures Unknown status NCT03356769 Phase 2 Aspirin;AED;Placebo
28 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)
29 Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers: Pilot Trial Completed NCT02104011 Phase 2 Propranolol
30 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)
31 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
32 Everolimus (RAD001)Therapy of Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex Completed NCT00411619 Phase 1, Phase 2 Everolimus
33 Rapamycin Therapy of Angiomyolipomas in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457808 Phase 2 Rapamycin, sirolimus
34 Everolimus (RAD001) Therapy for Epilepsy in Patients With Tuberous Sclerosis Complex Completed NCT01070316 Phase 1, Phase 2 Everolimus
35 RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457964 Phase 1, Phase 2 RAD001
36 Randomized Double-Blind Phase 2 Trial Of RAD001 For Neurocognition In Individuals With Tuberous Sclerosis Complex Completed NCT01289912 Phase 2 RAD001;Placebo
37 Phase II Study of Topical Rapamycin to Erase Angiofibromas in TSC-Multicenter Evaluation of a Novel Therapy Completed NCT01526356 Phase 2 Placebo;Rapamycin
38 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
39 A Phase II Multi-Center Study of Rapamycin for Treating Kidney Angiomyolipomas in TSC or LAM Patients Completed NCT00126672 Phase 2 Rapamycin
40 Rapalogues for Autism Phenotype in TSC: A Feasibility Study Completed NCT01929642 Phase 2 Sirolimus;Everolimus
41 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
42 A Phase 2B, Multicenter, 30-week, Prospective, Cross-over, Double-blind, Randomized, Placebo-controlled Study Followed by a 52-Week Open-label Extension Study to Evaluate the Efficacy and Safety of Basimglurant Adjunctive to Ongoing Anticonvulsive Therapy in Children, Adolescents, and Young Adults With Uncontrolled Seizures Associated With Tuberous Sclerosis Complex Recruiting NCT05059327 Phase 2 Basimglurant with crossover to Placebo;Placebo with crossover to Basimglurant
43 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
44 Feasibility Study of [11C]Acetate Positron Emission Tomography (PET) as an Indicator of Early Response to Rapamycin in Lymphangioleiomyomatosis (LAM) Patients Recruiting NCT05467397 Phase 1, Phase 2 [11C]acetate
45 Stopping TSC Onset and Progression 2B: Sirolimus TSC Epilepsy Prevention Study Recruiting NCT05104983 Phase 2 Sirolimus;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 Active, not recruiting NCT02849457 Phase 2 Vigabatrin;Placebo
47 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) Active, not recruiting NCT04285346 Phase 2 Ganaxolone
48 Stopping TSC Onset and Progression 2: Epilepsy Prevention in TSC Infants Active, not recruiting NCT04595513 Phase 1, Phase 2 TAVT-18 (sirolimus)
49 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
50 Tuberous Sclerosis Complex: Facial Angiofibroma Skin Cream Completed NCT01853423 Phase 1 Rapamune

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 28

Anatomical Context for Tuberous Sclerosis

Organs/tissues related to Tuberous Sclerosis:

MalaCards : Brain, Skin, Kidney, Lung, Liver, Heart, Smooth Muscle

Publications for Tuberous Sclerosis

Articles related to Tuberous Sclerosis:

(show top 50) (show all 8969)
# Title Authors PMID Year
1
Missense mutations to the TSC1 gene cause tuberous sclerosis complex. 53 62 5
18830229 2009
2
Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex. 53 62 5
18302728 2008
3
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. 53 62 5
17120248 2006
4
Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations. 53 62 5
16114042 2005
5
Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. 53 62 5
15798777 2005
6
Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex. 53 62 5
12015165 2002
7
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. 53 62 5
11112665 2001
8
Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects. 53 62 5
10533066 1999
9
Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis. 53 62 5
9829910 1998
10
Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations. 62 5
29221145 2017
11
Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China. 62 5
28065512 2017
12
Genotype and brain pathology phenotype in children with tuberous sclerosis complex. 62 5
27406250 2016
13
Minute amounts of hamartin wildtype rescue the emergence of tuber-like lesions in conditional Tsc1 ablated mice. 62 5
27425891 2016
14
Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development. 62 5
27494029 2016
15
Hemispherectomy for Hemimegalencephaly Due to Tuberous Sclerosis and a Review of the Literature. 62 5
26231267 2015
16
A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex. 62 5
25432535 2015
17
Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex. 62 5
24271014 2014
18
Monoallelic germline TSC1 mutations are permissive for T lymphocyte development and homeostasis in tuberous sclerosis complex individuals. 62 5
24633152 2014
19
Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported. 62 5
23389244 2013
20
Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. 62 5
22867869 2013
21
Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds. 62 5
21332470 2012
22
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. 62 5
21309039 2011
23
Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction. 62 5
20547222 2010
24
Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex. 62 5
20165957 2010
25
Three independent mutations in the TSC2 gene in a family with tuberous sclerosis. 62 5
19259131 2009
26
A reliable cell-based assay for testing unclassified TSC2 gene variants. 62 5
18854862 2009
27
Prenatal molecular diagnosis of tuberous sclerosis complex. 62 5
19254590 2009
28
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex. 62 5
16981987 2006
29
A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism. 62 5
16237225 2005
30
Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis. 62 5
15121797 2004
31
TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios. 62 5
12111193 2002
32
Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. 62 5
11520734 2001
33
A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex. 62 5
11403047 2001
34
Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE. 62 5
10363127 1998
35
Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene. 62 5
10732801 1998
36
Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients. 62 5
9463313 1998
37
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. 62 5
9242607 1997
38
Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. 62 5
8824881 1996
39
Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex. 62 41
36232477 2022
40
mTORC1 Activity in Psoriatic Lesions Is Mediated by Aberrant Regulation through the Tuberous Sclerosis Complex. 62 41
36139422 2022
41
Renal Transcriptome and Metabolome in Mice with Principal Cell-Specific Ablation of the Tsc1 Gene: Derangements in Pathways Associated with Cell Metabolism, Growth and Acid Secretion. 62 41
36142537 2022
42
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations. 5
30763456 2019
43
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 5
25525159 2015
44
Biallelic TSC gene inactivation in tuberous sclerosis complex. 53 62
20498439 2010
45
Thoracic aortic disease in tuberous sclerosis complex: molecular pathogenesis and potential therapies in Tsc2+/- mice. 53 62
20159776 2010
46
Sirolimus and tuberous sclerosis-associated renal angiomyolipomas. 53 62
20457704 2010
47
Animal models of lymphangioleiomyomatosis (LAM) and tuberous sclerosis complex (TSC). 53 62
20235887 2010
48
TSC1 loss synergizes with KRAS activation in lung cancer development in the mouse and confers rapamycin sensitivity. 53 62
19966866 2010
49
Noninvasive testing, early surgery, and seizure freedom in tuberous sclerosis complex. 53 62
20124204 2010
50
Carboxy terminal tail of polycystin-1 regulates localization of TSC2 to repress mTOR. 53 62
20169078 2010

Variations for Tuberous Sclerosis

ClinVar genetic disease variations for Tuberous Sclerosis:

5 (show top 50) (show all 2197)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TSC2 NM_000548.5(TSC2):c.481+1G>T SNV Pathogenic
49321 rs45488500 GRCh37: 16:2104442-2104442
GRCh38: 16:2054441-2054441
2 TSC2 NM_000548.5(TSC2):c.3214del (p.Ser1072fs) DEL Pathogenic
49802 rs137854106 GRCh37: 16:2129358-2129358
GRCh38: 16:2079357-2079357
3 TSC2 NM_000548.5(TSC2):c.4581dup (p.Glu1528Ter) DUP Pathogenic
49838 rs137854329 GRCh37: 16:2135239-2135240
GRCh38: 16:2085238-2085239
4 TSC2 NM_000548.5(TSC2):c.598C>T (p.Gln200Ter) SNV Pathogenic
49376 rs45517115 GRCh37: 16:2105519-2105519
GRCh38: 16:2055518-2055518
5 TSC2 NM_000548.5(TSC2):c.599+1G>A SNV Pathogenic
49377 rs45460895 GRCh37: 16:2105521-2105521
GRCh38: 16:2055520-2055520
6 TSC2 NM_000548.5(TSC2):c.871dup (p.Leu291fs) DUP Pathogenic
49932 rs137854052 GRCh37: 16:2108766-2108767
GRCh38: 16:2058765-2058766
7 TSC2 NM_000548.5(TSC2):c.4753_4763del (p.Lys1585fs) DEL Pathogenic
562149 rs1567533189 GRCh37: 16:2136284-2136294
GRCh38: 16:2086283-2086293
8 TSC1 NM_000368.5(TSC1):c.2446A>T (p.Lys816Ter) SNV Pathogenic
667420 rs1588299158 GRCh37: 9:135777032-135777032
GRCh38: 9:132901645-132901645
9 TSC1 NM_000368.5(TSC1):c.959_965del (p.Leu320fs) DEL Pathogenic
667421 rs1588324615 GRCh37: 9:135786904-135786910
GRCh38: 9:132911517-132911523
10 TSC2 NM_000548.5(TSC2):c.3750C>G (p.Tyr1250Ter) SNV Pathogenic
Not Provided
49550 rs45517308 GRCh37: 16:2131735-2131735
GRCh38: 16:2081734-2081734
11 TSC2 NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) SNV Pathogenic
Not Provided
12404 rs45517258 GRCh37: 16:2126142-2126142
GRCh38: 16:2076141-2076141
12 TSC1 NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) SNV Pathogenic
48885 rs118203631 GRCh37: 9:135779172-135779172
GRCh38: 9:132903785-132903785
13 TSC2 NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) SNV Pathogenic
49153 rs45517169 GRCh37: 16:2112983-2112983
GRCh38: 16:2062982-2062982
14 TSC2 NM_000548.5(TSC2):c.3254C>A (p.Ser1085Ter) SNV Pathogenic
50055 rs45517287 GRCh37: 16:2129399-2129399
GRCh38: 16:2079398-2079398
15 TSC2 NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) SNV Pathogenic
Not Provided
Not Provided
49960 rs45507199 GRCh37: 16:2138295-2138295
GRCh38: 16:2088294-2088294
16 TSC1 NM_000368.5(TSC1):c.733C>T (p.Arg245Ter) SNV Pathogenic
49091 rs118203434 GRCh37: 9:135796754-135796754
GRCh38: 9:132921367-132921367
17 TSC2 NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) DEL Pathogenic
Not Provided
12402 rs137854218 GRCh37: 16:2138294-2138311
GRCh38: 16:2088293-2088310
18 TSC2 NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) SNV Pathogenic
49770 rs45438205 GRCh37: 16:2130366-2130366
GRCh38: 16:2080365-2080365
19 TSC2 NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) SNV Pathogenic
12401 rs45516293 GRCh37: 16:2134966-2134966
GRCh38: 16:2084965-2084965
20 TSC1 NM_000368.5(TSC1):c.2208+2T>A SNV Likely Pathogenic
419826 rs1064794132 GRCh37: 9:135779036-135779036
GRCh38: 9:132903649-132903649
21 TSC2 NM_000548.5(TSC2):c.5024C>A (p.Pro1675Gln) SNV Likely Pathogenic
Not Provided
535873 rs45483392 GRCh37: 16:2137898-2137898
GRCh38: 16:2087897-2087897
22 TSC1 NM_000368.5(TSC1):c.1698_1704delinsGC (p.Ala567fs) INDEL Likely Pathogenic
440863 rs1554815914 GRCh37: 9:135781261-135781267
GRCh38: 9:132905874-132905880
23 TSC2 NM_000548.5(TSC2):c.4316dup (p.Gln1440fs) DUP Likely Pathogenic
Not Provided
49771 rs137853988 GRCh37: 16:2134535-2134536
GRCh38: 16:2084534-2084535
24 TSC2 NM_000548.5(TSC2):c.1792T>C (p.Tyr598His) SNV Likely Pathogenic
49175 rs45517201 GRCh37: 16:2120532-2120532
GRCh38: 16:2070531-2070531
25 TSC2 NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser) SNV Likely Pathogenic
49335 rs45517382 GRCh37: 16:2136835-2136835
GRCh38: 16:2086834-2086834
26 TSC2 NM_000548.5(TSC2):c.736A>G (p.Thr246Ala) SNV Uncertain Significance
49384 rs137854123 GRCh37: 16:2106732-2106732
GRCh38: 16:2056731-2056731
27 TSC2 NM_000548.5(TSC2):c.2639+10C>T SNV Uncertain Significance
49844 rs137854378 GRCh37: 16:2125903-2125903
GRCh38: 16:2075902-2075902
28 TSC2 NM_000548.5(TSC2):c.646G>A (p.Glu216Lys) SNV Uncertain Significance
Not Provided
49379 rs45517118 GRCh37: 16:2106243-2106243
GRCh38: 16:2056242-2056242
29 TSC2 NM_000548.5(TSC2):c.3038A>G (p.Asp1013Gly) SNV Uncertain Significance
406089 rs1060500961 GRCh37: 16:2129104-2129104
GRCh38: 16:2079103-2079103
30 TSC1 NM_000368.5(TSC1):c.*2644G>T SNV Uncertain Significance
365444 rs886063596 GRCh37: 9:135768978-135768978
GRCh38: 9:132893591-132893591
31 TSC2 NM_000548.5(TSC2):c.5267A>G (p.Glu1756Gly) SNV Uncertain Significance
318336 rs886051797 GRCh37: 16:2138454-2138454
GRCh38: 16:2088453-2088453
32 TSC2 NM_000548.5(TSC2):c.2047T>G (p.Ser683Ala) SNV Uncertain Significance
318318 rs878854080 GRCh37: 16:2121885-2121885
GRCh38: 16:2071884-2071884
33 TSC2 NM_000548.5(TSC2):c.-34G>A SNV Uncertain Significance
378770 rs559641280 GRCh37: 16:2098062-2098062
GRCh38: 16:2048061-2048061
34 TSC2 NM_000548.5(TSC2):c.848+5G>T SNV Uncertain Significance
885645 rs1370989559 GRCh37: 16:2107184-2107184
GRCh38: 16:2057183-2057183
35 TSC2 NM_000548.5(TSC2):c.5130C>A (p.Phe1710Leu) SNV Uncertain Significance
885963 rs760978505 GRCh37: 16:2138110-2138110
GRCh38: 16:2088109-2088109
36 TSC2 NM_000548.5(TSC2):c.1054G>A (p.Glu352Lys) SNV Uncertain Significance
665304 rs1596298442 GRCh37: 16:2110749-2110749
GRCh38: 16:2060748-2060748
37 TSC2 NM_000548.5(TSC2):c.1821G>C (p.Ala607=) SNV Uncertain Significance
Likely Benign
886713 rs149543046 GRCh37: 16:2120561-2120561
GRCh38: 16:2070560-2070560
38 TSC2 NM_000548.5(TSC2):c.4493+15T>G SNV Uncertain Significance
886888 rs2090547818 GRCh37: 16:2134731-2134731
GRCh38: 16:2084730-2084730
39 TSC2 NM_000548.5(TSC2):c.2545+3G>A SNV Uncertain Significance
888041 rs2088950824 GRCh37: 16:2124393-2124393
GRCh38: 16:2074392-2074392
40 TSC2 NM_000548.5(TSC2):c.2203T>G (p.Ser735Ala) SNV Uncertain Significance
884831 rs753059579 GRCh37: 16:2122347-2122347
GRCh38: 16:2072346-2072346
41 TSC2 NM_000548.5(TSC2):c.*86T>G SNV Uncertain Significance
885118 rs915706457 GRCh37: 16:2138697-2138697
GRCh38: 16:2088696-2088696
42 TSC2 NM_000548.5(TSC2):c.-82G>T SNV Uncertain Significance
885578 rs1391750751 GRCh37: 16:2098014-2098014
GRCh38: 16:2048013-2048013
43 TSC2 NM_000548.5(TSC2):c.3832C>G (p.Leu1278Val) SNV Uncertain Significance
1172744 GRCh37: 16:2132454-2132454
GRCh38: 16:2082453-2082453
44 TSC2 NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met) SNV Uncertain Significance
65285 rs397515209 GRCh37: 16:2133801-2133801
GRCh38: 16:2083800-2083800
45 TSC1 NM_000368.5(TSC1):c.*4072G>A SNV Uncertain Significance
365403 rs886063573 GRCh37: 9:135767550-135767550
GRCh38: 9:132892163-132892163
46 TSC1 NM_000368.5(TSC1):c.*3239G>T SNV Uncertain Significance
365426 rs886063584 GRCh37: 9:135768383-135768383
GRCh38: 9:132892996-132892996
47 TSC1 NM_000368.5(TSC1):c.-174A>T SNV Uncertain Significance
365523 rs886063627 GRCh37: 9:135819960-135819960
GRCh38: 9:132944573-132944573
48 TSC1 NM_000368.5(TSC1):c.*3047C>A SNV Uncertain Significance
365429 rs886063587 GRCh37: 9:135768575-135768575
GRCh38: 9:132893188-132893188
49 TSC1 NM_000368.5(TSC1):c.*4622G>A SNV Uncertain Significance
365389 rs886063564 GRCh37: 9:135767000-135767000
GRCh38: 9:132891613-132891613
50 TSC1 NM_000368.5(TSC1):c.*2213C>A SNV Uncertain Significance
365458 rs539030496 GRCh37: 9:135769409-135769409
GRCh38: 9:132894022-132894022

Copy number variations for Tuberous Sclerosis from CNVD:

6
# 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 88)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.89 VHL TSC2 TSC1 STK11 RPS6KA1 RHEB
2 13.83 VHL TSC2 TSC1 STK11 S100B RPS6KB1
3
Show member pathways
13.6 RPS6KB1 RPS6KA1 RPS6 PIK3CA MTOR EIF4EBP1
4
Show member pathways
13.57 TSC2 TSC1 RPS6KB1 RPS6KA1 RPS6 PIK3CA
5
Show member pathways
13.45 TSC2 TSC1 RPS6KB1 MTOR EIF4EBP1 CCL26
6
Show member pathways
13.19 AKT1 EIF4EBP1 MTOR RHEB RPS6 RPS6KA1
7
Show member pathways
13.09 TSC2 TSC1 STK11 RPS6KB1 RPS6 RHEB
8
Show member pathways
13.02 TSC2 TSC1 STK11 RHEB MTOR AKT1
9
Show member pathways
12.99 RPS6KB1 RPS6KA1 RPS6 PIK3CA MTOR EIF4EBP1
10
Show member pathways
12.98 TSC2 RPS6KB1 RHEB PIK3CA MTOR AKT1
11
Show member pathways
12.94 RPS6KB1 RPS6KA1 RPS6 PIK3CA MTOR AKT1
12
Show member pathways
12.94 AKT1 MTOR PIK3CA RPS6 RPS6KA1 RPS6KB1
13 12.9 AKT1 GFAP MTOR PIK3CA RPS6KA1 S100B
14
Show member pathways
12.84 AKT1 EIF4EBP1 MTOR PIK3CA RHEB RPS6
15
Show member pathways
12.82 TSC2 RPS6KB1 RHEB PIK3CA NF1 MTOR
16
Show member pathways
12.78 TSC2 TSC1 RHEB MTOR GFAP
17 12.77 TSC2 TSC1 RPS6KB1 RPS6KA1 RPS6 RHEB
18
Show member pathways
12.69 RPS6KB1 RPS6KA1 MTOR EIF4EBP1 AKT1
19 12.66 DCX GFAP NF1 S100B SYP
20
Show member pathways
12.66 TSC2 TSC1 RPS6KB1 RPS6KA1 RHEB PIK3CA
21
Show member pathways
12.5 RPS6KB1 PIK3CA MTOR AKT1
22
Show member pathways
12.48 TSC2 TSC1 TBC1D7 AKT1
23
Show member pathways
12.48 RPS6KA1 PIK3CA MTOR AKT1
24
Show member pathways
12.42 TSC2 TSC1 RPS6KB1 RPS6 MTOR EIF4EBP1
25
Show member pathways
12.39 TSC2 RPS6KB1 RHEB PIK3CA MTOR AKT1
26
Show member pathways
12.37 RPS6KB1 PIK3CA MTOR AKT1
27
Show member pathways
12.37 TSC2 TSC1 STK11 RPS6KB1 MTOR EIF4EBP1
28
Show member pathways
12.35 TSC2 TSC1 RPS6KB1 RPS6 RHEB PIK3CA
29
Show member pathways
12.33 AKT1 MTOR PIK3CA RPS6
30 12.31 TSC2 TSC1 STK11 RHEB NF1 MTOR
31
Show member pathways
12.3 TSC2 TSC1 RHEB PIK3CA MTOR AKT1
32
Show member pathways
12.28 TSC2 RPS6KB1 PIK3CA MTOR EIF4EBP1 AKT1
33
Show member pathways
12.24 RPS6KB1 RPS6KA1 PIK3CA AKT1
34
Show member pathways
12.23 AKT1 EIF4EBP1 MTOR PIK3CA RHEB RPS6
35
Show member pathways
12.22 AKT1 EIF4EBP1 MTOR PIK3CA RHEB RPS6
36
Show member pathways
12.2 TSC2 TSC1 RPS6KB1 RHEB NF1 MTOR
37 12.2 AKT1 EIF4EBP1 MTOR RHEB RPS6KB1 STK11
38
Show member pathways
12.19 TSC2 TSC1 STK11 RHEB MTOR
39 12.15 SYP RPS6KB1 MTOR AKT1
40
Show member pathways
12.15 TSC2 RPS6KB1 RHEB MTOR EIF4EBP1
41
Show member pathways
12.15 RPS6KB1 RPS6 PIK3CA MTOR AKT1
42
Show member pathways
12.15 TSC2 TSC1 STK11 RPS6KB1 RPS6 RHEB
43
Show member pathways
12.13 MTOR RHEB RPS6 RPS6KA1 RPS6KB1 TSC1
44 12.11 RPS6KB1 RPS6 PIK3CA EIF4EBP1 AKT1
45 12.06 TSC2 TSC1 TBC1D7 RHEB PIK3CA AKT1
46 12.02 VHL TSC2 TSC1 RHEB MTOR AKT1
47 11.99 AKT1 MTOR RHEB TSC1 TSC2
48 11.96 RPS6KB1 RPS6 MTOR EIF4EBP1
49
Show member pathways
11.94 RPS6KA1 RHEB PIK3CA MTOR AKT1
50 11.94 MTOR PIK3CA RHEB RPS6 RPS6KB1 TSC1

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 cytosol GO:0005829 10.19 AKT1 DCX EIF4EBP1 GFAP MTOR NF1
2 perinuclear region of cytoplasm GO:0048471 10 TSC2 TSC1 SYP S100B RPS6KB1 RPS6
3 TSC1-TSC2 complex GO:0033596 9.1 TSC2 TSC1 TBC1D7

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 10.36 VHL RPS6KB1 RPS6KA1 RPS6 MTOR AKT1
2 regulation of cell cycle GO:0051726 10.24 TSC2 TSC1 STK11 RHEB PKD1
3 phosphorylation GO:0016310 10.11 STK11 RPS6KB1 RPS6KA1 PIK3CA MTOR AKT1
4 negative regulation of autophagy GO:0010507 10.08 VHL MTOR AKT1
5 response to heat GO:0009408 10.07 RPS6KB1 MTOR AKT1
6 peptidyl-serine phosphorylation GO:0018105 10.07 RPS6KB1 RPS6KA1 PKD1 MTOR AKT1
7 phosphatidylinositol 3-kinase signaling GO:0014065 10.04 PIK3CA NF1 AKT1
8 germ cell development GO:0007281 10.03 AKT1 MTOR RPS6KB1
9 regulation of signal transduction by p53 class mediator GO:1901796 10.02 STK11 MTOR AKT1
10 oligodendrocyte differentiation GO:0048709 10 RHEB NF1 MTOR
11 regulation of translation GO:0006417 9.99 TSC1 RPS6KB1 EIF4EBP1 AKT1
12 protein kinase B signaling GO:0043491 9.92 AKT1 PIK3CA RPS6KB1 TSC2
13 activation-induced cell death of T cells GO:0006924 9.88 RPS6 AKT1
14 negative regulation of TOR signaling GO:0032007 9.86 TSC2 TSC1 TBC1D7 RPS6KA1
15 response to leucine GO:0043201 9.8 PIK3CA RPS6KB1
16 insulin-like growth factor receptor signaling pathway GO:0048009 9.8 TSC2 PIK3CA AKT1
17 regulation of type B pancreatic cell development GO:2000074 9.78 AKT1 RHEB
18 negative regulation of macroautophagy GO:0016242 9.76 TSC1 PIK3CA MTOR AKT1
19 Schwann cell proliferation GO:0014010 9.73 NF1 GFAP
20 TOR signaling GO:0031929 9.65 RPS6KB1 RPS6 MTOR EIF4EBP1 AKT1
21 anoikis GO:0043276 9.32 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 serine/threonine kinase activity GO:0004674 10.03 STK11 RPS6KB1 RPS6KA1 PIK3CA MTOR AKT1
2 kinase activity GO:0016301 9.81 AKT1 MTOR PIK3CA RPS6KA1 RPS6KB1 STK11
3 ribosomal protein S6 kinase activity GO:0004711 9.62 RPS6KB1 RPS6KA1
4 protein serine/threonine/tyrosine kinase activity GO:0004712 9.43 RPS6KB1 RPS6KA1 AKT1
5 protein serine kinase activity GO:0106310 9.4 STK11 RPS6KB1 RPS6KA1 PIK3CA MTOR AKT1

Sources for Tuberous Sclerosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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