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 tremor, back pain and headache. 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 Increased shRNA abundance (Z-score > 2)

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 986)
# 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 subependymal giant cell astrocytoma 32.2 TSC2 TSC1 TBC1D7 SYP S100B RPS6KB1
7 renal cell carcinoma, papillary, 1 32.1 VHL RHEB PIK3CA MTOR AKT1
8 renal cell carcinoma, nonpapillary 32.1 VHL TSC2 TSC1 RHEB PIK3CA MTOR
9 kidney angiomyolipoma 31.9 TSC2 TSC1 TBC1D7 RPS6KB1 RPS6 RHEB
10 congenital heart defects, hamartomas of tongue, and polysyndactyly 31.9 TSC2 TSC1 CCL26
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 bap1 tumor predisposition syndrome 31.5 VHL TSC2 TSC1 STK11 NF1
19 polycystic kidney disease 31.5 VHL TSC2 TSC1 PKD1 MTOR CCL26
20 inherited cancer-predisposing syndrome 31.5 VHL TSC2 TSC1 STK11 NF1
21 autism 31.5 TSC2 TSC1 RPS6KB1 RHEB NF1 MTOR
22 autosomal dominant polycystic kidney disease 31.4 TSC2 TSC1 PKD1 MTOR AKT1
23 focal cortical dysplasia, type ii 31.4 TSC2 TSC1 MTOR
24 perivascular epithelioid cell tumor 31.4 TSC2 TSC1 MTOR
25 kidney cancer 31.3 VHL TSC2 TSC1 PIK3CA MTOR
26 brain cancer 31.3 TSC1 SYP PIK3CA NF1 GFAP AKT1
27 epithelioid type angiomyolipoma 31.2 TSC2 TSC1
28 status epilepticus 31.2 S100B MTOR GFAP
29 hepatic angiomyolipoma 31.2 TSC2 TSC1
30 obstructive hydrocephalus 31.1 TSC2 TSC1 SYP NF1 GFAP
31 neurofibromatosis, type i 31.1 VHL TSC2 TSC1 S100B NF1 MTOR
32 polycystic liver disease 1 with or without kidney cysts 31.1 TSC2 TSC1 PKD1
33 sturge-weber syndrome 31.1 TSC2 PIK3CA NF1
34 neuroendocrine tumor 31.1 SYP RPS6KB1 NF1 MTOR
35 birt-hogg-dube syndrome 31.1 TSC2 TSC1 MTOR
36 megalencephaly 31.1 TBC1D7 PIK3CA MTOR
37 peutz-jeghers syndrome 31.0 TSC2 TSC1 STK11
38 angiolipoma 31.0 TSC2 TSC1 PIK3CA
39 chordoma 31.0 S100B MTOR GFAP AKT1
40 neurofibroma 31.0 SYP S100B NF1
41 diffuse lipomatosis 30.9 TSC1 PIK3CA
42 cellular ependymoma 30.8 SYP S100B GFAP
43 glioblastoma 30.8 TSC2 RPS6KB1 PIK3CA NF1 MTOR GFAP
44 fragile x syndrome 30.7 TSC2 TSC1 RPS6KB1 RHEB NF1 MTOR
45 von hippel-lindau syndrome 30.7 VHL TSC2 SYP PKD1 NF1
46 hemangioma 30.6 VHL TSC2 TSC1 SYP PKD1 MTOR
47 nevus, epidermal 30.6 PIK3CA NF1 MTOR AKT1
48 meningioma, familial 30.4 TSC1 SYP S100B PIK3CA NF1 GFAP
49 chromophobe renal cell carcinoma 30.4 VHL PIK3CA MTOR AKT1
50 liver lipoma 30.4 TSC2 TSC1

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:


tremor; back pain; headache; syncope; pain; chronic pain; sciatica; seizures; 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 78)
# 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
Vigabatrin Approved Phase 4 60643-86-9, 68506-86-5 5665
4 Antiprotozoal Agents Phase 4
5 Antiparasitic Agents Phase 4
6 Antimalarials Phase 4
7 Pharmaceutical Solutions Phase 4
8 Liver Extracts Phase 4
9 Neurotransmitter Agents Phase 4
10 Anticonvulsants Phase 4
11
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
12
Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
13
Prednisolone Approved, Vet_approved Phase 3 50-24-8 4894 5755
14
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5 1875
15
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 4159 6741
16
Ethanol Approved Phase 3 64-17-5 702
17 Strawberry Approved Phase 3
18
Carbamazepine Approved, Investigational Phase 3 298-46-4 2554
19
Phenytoin Approved, Vet_approved Phase 3 57-41-0 1775
20
Phenobarbital Approved, Investigational Phase 3 50-06-6 4763
21
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
22
Clonazepam Approved, Illicit Phase 3 1622-61-3 2802
23
Clobazam Approved, Illicit Phase 3 22316-47-8 2789
24
Topiramate Approved Phase 3 97240-79-4 5284627
25
Ganaxolone Approved, Investigational Phase 3 38398-32-2 22023730 6918305
26
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030
27
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
28
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
29
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 5280453
30
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7 4897
31
Methylprednisolone Acetate Phase 3 584547
32 Vitamins Phase 3
33 Hormones Phase 3
34 Trace Elements Phase 3
35 Vasoconstrictor Agents Phase 3
36 Calcium, Dietary Phase 3
37 Micronutrients Phase 3
38 Neurosteroids Phase 3
39 GABA Modulators Phase 3
40 Antifungal Agents Phase 3
41 Antibiotics, Antitubercular Phase 3
42
Calcium Nutraceutical Phase 3 7440-70-2 271
43
Acetylsalicylic acid Approved, Vet_approved Phase 2 50-78-2 2244
44
Propranolol Approved, Investigational Phase 2 318-98-9, 525-66-6 62882 4946
45
Simvastatin Approved Phase 1, Phase 2 79902-63-9 54454
46
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
47
Tannic acid Approved Phase 2 1401-55-4 16129878 16129778
48
Coal tar Approved Phase 1, Phase 2 8007-45-2
49 Analgesics Phase 2
50 Antirheumatic Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 83)
# 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 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 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
11 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
12 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
13 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
14 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
15 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
16 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
17 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)
18 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
19 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
20 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
21 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
22 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
23 Efficacy and Safety Study of Vatiquinone for the Treatment of Mitochondrial Disease Subjects With Refractory Epilepsy Active, not recruiting NCT04378075 Phase 2, Phase 3 Vatiquinone
24 A Phase 3, Open-label Study of Adjunctive Ganaxolone (GNX) Treatment in Children and Adults With Tuberous Sclerosis Complex (TSC)-Related Epilepsy (TrustTSC OLE) Enrolling by invitation NCT05604170 Phase 3 GNX oral suspension, TID
25 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
26 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
27 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
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 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
30 Rapamycin Therapy of Angiomyolipomas in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457808 Phase 2 Rapamycin, sirolimus
31 RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457964 Phase 1, Phase 2 RAD001
32 Everolimus (RAD001)Therapy of Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex Completed NCT00411619 Phase 1, Phase 2 Everolimus
33 Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers: Pilot Trial Completed NCT02104011 Phase 2 Propranolol
34 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
35 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)
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) Completed NCT04285346 Phase 2 Ganaxolone
37 Everolimus (RAD001) Therapy for Epilepsy in Patients With Tuberous Sclerosis Complex Completed NCT01070316 Phase 1, Phase 2 Everolimus
38 Randomized Double-Blind Phase 2 Trial Of RAD001 For Neurocognition In Individuals With Tuberous Sclerosis Complex Completed NCT01289912 Phase 2 RAD001;Placebo
39 Rapalogues for Autism Phenotype in TSC: A Feasibility Study Completed NCT01929642 Phase 2 Sirolimus;Everolimus
40 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
41 A Phase II Multi-Center Study of Rapamycin for Treating Kidney Angiomyolipomas in TSC or LAM Patients Completed NCT00126672 Phase 2 Rapamycin
42 Phase II Study of Topical Rapamycin to Erase Angiofibromas in TSC-Multicenter Evaluation of a Novel Therapy Completed NCT01526356 Phase 2 Placebo;Rapamycin
43 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
44 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
45 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
46 Stopping TSC Onset and Progression 2B: Sirolimus TSC Epilepsy Prevention Study Recruiting NCT05104983 Phase 2 Sirolimus;Placebo
47 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
48 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
49 Stopping TSC Onset and Progression 2: Epilepsy Prevention in TSC Infants Active, not recruiting NCT04595513 Phase 1, Phase 2 TAVT-18 (sirolimus)
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 9021)
# 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
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study. 62 5
32461669 2020
11
Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations. 62 5
29221145 2017
12
Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China. 62 5
28065512 2017
13
Genotype and brain pathology phenotype in children with tuberous sclerosis complex. 62 5
27406250 2016
14
Minute amounts of hamartin wildtype rescue the emergence of tuber-like lesions in conditional Tsc1 ablated mice. 62 5
27425891 2016
15
Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development. 62 5
27494029 2016
16
Hemispherectomy for Hemimegalencephaly Due to Tuberous Sclerosis and a Review of the Literature. 62 5
26231267 2015
17
A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex. 62 5
25432535 2015
18
Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex. 62 5
24271014 2014
19
Monoallelic germline TSC1 mutations are permissive for T lymphocyte development and homeostasis in tuberous sclerosis complex individuals. 62 5
24633152 2014
20
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
21
Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. 62 5
22867869 2013
22
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
23
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. 62 5
21309039 2011
24
Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction. 62 5
20547222 2010
25
Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex. 62 5
20165957 2010
26
Three independent mutations in the TSC2 gene in a family with tuberous sclerosis. 62 5
19259131 2009
27
Prenatal molecular diagnosis of tuberous sclerosis complex. 62 5
19254590 2009
28
A reliable cell-based assay for testing unclassified TSC2 gene variants. 62 5
18854862 2009
29
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex. 62 5
16981987 2006
30
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
31
Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis. 62 5
15121797 2004
32
TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios. 62 5
12111193 2002
33
Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. 62 5
11520734 2001
34
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
35
Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE. 62 5
10363127 1998
36
Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene. 62 5
10732801 1998
37
Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients. 62 5
9463313 1998
38
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. 62 5
9242607 1997
39
Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. 62 5
8824881 1996
40
MicroRNA Expression Profile in TSC Cell Lines and the Impact of mTOR Inhibitor. 62 41
36430972 2022
41
Use of cannabidiol in the treatment of epilepsy: Lennox-Gastaut syndrome, Dravet syndrome, and tuberous sclerosis complex. 62 41
36417631 2022
42
Safety and Effectiveness of Medical Therapy and Surgical Intervention for Renal Angiomyolipoma Associated With Tuberous Sclerosis Complex. 62 41
36471546 2022
43
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations. 5
30763456 2019
44
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 5
25525159 2015
45
Biallelic TSC gene inactivation in tuberous sclerosis complex. 53 62
20498439 2010
46
Thoracic aortic disease in tuberous sclerosis complex: molecular pathogenesis and potential therapies in Tsc2+/- mice. 53 62
20159776 2010
47
Sirolimus and tuberous sclerosis-associated renal angiomyolipomas. 53 62
20457704 2010
48
Animal models of lymphangioleiomyomatosis (LAM) and tuberous sclerosis complex (TSC). 53 62
20235887 2010
49
TSC1 loss synergizes with KRAS activation in lung cancer development in the mouse and confers rapamycin sensitivity. 53 62
19966866 2010
50
Noninvasive testing, early surgery, and seizure freedom in tuberous sclerosis complex. 53 62
20124204 2010

Variations for Tuberous Sclerosis

ClinVar genetic disease variations for Tuberous Sclerosis:

5 (show top 50) (show all 2366)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TSC2 NM_000548.5(TSC2):c.598C>T (p.Gln200Ter) SNV Pathogenic
49376 rs45517115 GRCh37: 16:2105519-2105519
GRCh38: 16:2055518-2055518
2 TSC2 NM_000548.5(TSC2):c.599+1G>A SNV Pathogenic
49377 rs45460895 GRCh37: 16:2105521-2105521
GRCh38: 16:2055520-2055520
3 TSC2 NM_000548.5(TSC2):c.481+1G>T SNV Pathogenic
49321 rs45488500 GRCh37: 16:2104442-2104442
GRCh38: 16:2054441-2054441
4 TSC2 NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) SNV Pathogenic
49153 rs45517169 GRCh37: 16:2112983-2112983
GRCh38: 16:2062982-2062982
5 TSC2 NM_000548.5(TSC2):c.3214del (p.Ser1072fs) DEL Pathogenic
49802 rs137854106 GRCh37: 16:2129358-2129358
GRCh38: 16:2079357-2079357
6 TSC2 NM_000548.5(TSC2):c.3750C>G (p.Tyr1250Ter) SNV Pathogenic
49550 rs45517308 GRCh37: 16:2131735-2131735
GRCh38: 16:2081734-2081734
7 TSC2 NM_000548.5(TSC2):c.4581dup (p.Glu1528Ter) DUP Pathogenic
49838 rs137854329 GRCh37: 16:2135239-2135240
GRCh38: 16:2085238-2085239
8 TSC2 NM_000548.5(TSC2):c.871dup (p.Leu291fs) DUP Pathogenic
49932 rs137854052 GRCh37: 16:2108766-2108767
GRCh38: 16:2058765-2058766
9 TSC2 NM_000548.5(TSC2):c.3254C>A (p.Ser1085Ter) SNV Pathogenic
50055 rs45517287 GRCh37: 16:2129399-2129399
GRCh38: 16:2079398-2079398
10 TSC2 NM_000548.5(TSC2):c.4753_4763del (p.Lys1585fs) DEL Pathogenic
562149 rs1567533189 GRCh37: 16:2136284-2136294
GRCh38: 16:2086283-2086293
11 TSC1 NM_000368.5(TSC1):c.2446A>T (p.Lys816Ter) SNV Pathogenic
667420 rs1588299158 GRCh37: 9:135777032-135777032
GRCh38: 9:132901645-132901645
12 TSC1 NM_000368.5(TSC1):c.959_965del (p.Leu320fs) DEL Pathogenic
667421 rs1588324615 GRCh37: 9:135786904-135786910
GRCh38: 9:132911517-132911523
13 TSC1 NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) SNV Pathogenic
48885 rs118203631 GRCh37: 9:135779172-135779172
GRCh38: 9:132903785-132903785
14 TSC1 NM_000368.5(TSC1):c.733C>T (p.Arg245Ter) SNV Pathogenic
49091 rs118203434 GRCh37: 9:135796754-135796754
GRCh38: 9:132921367-132921367
15 TSC2 NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) SNV Pathogenic
12404 rs45517258 GRCh37: 16:2126142-2126142
GRCh38: 16:2076141-2076141
16 TSC2 NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) SNV Pathogenic
49770 rs45438205 GRCh37: 16:2130366-2130366
GRCh38: 16:2080365-2080365
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.5228G>A (p.Arg1743Gln) SNV Pathogenic
49960 rs45507199 GRCh37: 16:2138295-2138295
GRCh38: 16:2088294-2088294
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.1698_1704delinsGC (p.Ala567fs) INDEL Likely Pathogenic
440863 rs1554815914 GRCh37: 9:135781261-135781267
GRCh38: 9:132905874-132905880
21 TSC2 NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser) SNV Likely Pathogenic
49335 rs45517382 GRCh37: 16:2136835-2136835
GRCh38: 16:2086834-2086834
22 TSC2 NM_000548.5(TSC2):c.5024C>A (p.Pro1675Gln) SNV Likely Pathogenic
535873 rs45483392 GRCh37: 16:2137898-2137898
GRCh38: 16:2087897-2087897
23 TSC1 NM_000368.5(TSC1):c.2208+2T>A SNV Likely Pathogenic
419826 rs1064794132 GRCh37: 9:135779036-135779036
GRCh38: 9:132903649-132903649
24 TSC1 NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter) SNV Likely Pathogenic
821847 rs1588290078 GRCh37: 9:135772728-135772728
GRCh38: 9:132897341-132897341
25 TSC2 NM_000548.5(TSC2):c.4316dup (p.Gln1440fs) DUP Likely Pathogenic
49771 rs137853988 GRCh37: 16:2134535-2134536
GRCh38: 16:2084534-2084535
26 TSC2 NM_000548.5(TSC2):c.1792T>C (p.Tyr598His) SNV Likely Pathogenic
49175 rs45517201 GRCh37: 16:2120532-2120532
GRCh38: 16:2070531-2070531
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.4569+12C>T SNV Uncertain Significance
49856 rs45517350 GRCh37: 16:2135039-2135039
GRCh38: 16:2085038-2085038
29 TSC2 NM_000548.5(TSC2):c.3890C>T (p.Ala1297Val) SNV Uncertain Significance
468046 rs371239156 GRCh37: 16:2133702-2133702
GRCh38: 16:2083701-2083701
30 TSC2 NM_000548.5(TSC2):c.*7G>A SNV Uncertain Significance
379639 rs765016970 GRCh37: 16:2138618-2138618
GRCh38: 16:2088617-2088617
31 TSC1 NM_000368.5(TSC1):c.64C>T (p.Arg22Trp) SNV Uncertain Significance
417731 rs749030456 GRCh37: 9:135804196-135804196
GRCh38: 9:132928809-132928809
32 TSC2 NM_000548.5(TSC2):c.1928A>G (p.Tyr643Cys) SNV Uncertain Significance
648631 rs1319342312 GRCh37: 16:2121599-2121599
GRCh38: 16:2071598-2071598
33 TSC2 NM_000548.5(TSC2):c.4216G>A (p.Asp1406Asn) SNV Uncertain Significance
405984 rs147719291 GRCh37: 16:2134439-2134439
GRCh38: 16:2084438-2084438
34 TSC1 NM_000368.5(TSC1):c.1934C>T (p.Pro645Leu) SNV Uncertain Significance
534441 rs1269162063 GRCh37: 9:135781031-135781031
GRCh38: 9:132905644-132905644
35 TSC2 NM_000548.5(TSC2):c.5391CTC[1] (p.Ser1799del) MICROSAT Uncertain Significance
207697 rs796053480 GRCh37: 16:2138578-2138580
GRCh38: 16:2088577-2088579
36 TSC2 NM_000548.5(TSC2):c.190A>G (p.Ile64Val) SNV Uncertain Significance
65108 rs397515081 GRCh37: 16:2100452-2100452
GRCh38: 16:2050451-2050451
37 TSC2 NM_000548.5(TSC2):c.1095C>T (p.Ile365=) SNV Uncertain Significance
184699 rs757135168 GRCh37: 16:2110790-2110790
GRCh38: 16:2060789-2060789
38 TSC2 NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys) SNV Uncertain Significance
207711 rs45517148 GRCh37: 16:2110791-2110791
GRCh38: 16:2060790-2060790
39 TSC2 NM_000548.5(TSC2):c.1689C>T (p.Ala563=) SNV Uncertain Significance
486612 rs779858018 GRCh37: 16:2115609-2115609
GRCh38: 16:2065608-2065608
40 TSC2 NM_000548.5(TSC2):c.4137G>A (p.Ser1379=) SNV Uncertain Significance
230390 rs769653533 GRCh37: 16:2134360-2134360
GRCh38: 16:2084359-2084359
41 TSC2 NM_000548.5(TSC2):c.4275G>A (p.Gly1425=) SNV Uncertain Significance
385484 rs1057522238 GRCh37: 16:2134498-2134498
GRCh38: 16:2084497-2084497
42 TSC2 NM_000548.5(TSC2):c.1244C>T (p.Ala415Val) SNV Uncertain Significance
184138 rs374936223 GRCh37: 16:2111996-2111996
GRCh38: 16:2061995-2061995
43 TSC2 NM_000548.5(TSC2):c.1912G>T (p.Val638Leu) SNV Uncertain Significance
807947 rs587778730 GRCh37: 16:2121583-2121583
GRCh38: 16:2071582-2071582
44 TSC2 NM_000548.5(TSC2):c.374A>G (p.Lys125Arg) SNV Uncertain Significance
468038 rs767059758 GRCh37: 16:2104334-2104334
GRCh38: 16:2054333-2054333
45 TSC2 NM_000548.5(TSC2):c.695C>T (p.Pro232Leu) SNV Uncertain Significance
486620 rs760100924 GRCh37: 16:2106691-2106691
GRCh38: 16:2056690-2056690
46 TSC2 NM_000548.5(TSC2):c.2077C>T (p.Leu693=) SNV Uncertain Significance
467921 rs1167258871 GRCh37: 16:2121915-2121915
GRCh38: 16:2071914-2071914
47 TSC2 NM_000548.5(TSC2):c.3276G>A (p.Pro1092=) SNV Uncertain Significance
238016 rs368923127 GRCh37: 16:2129421-2129421
GRCh38: 16:2079420-2079420
48 TSC2 NM_000548.5(TSC2):c.3294C>T (p.Pro1098=) SNV Uncertain Significance
468000 rs150126331 GRCh37: 16:2129567-2129567
GRCh38: 16:2079566-2079566
49 TSC2 NM_000548.5(TSC2):c.5010C>T (p.His1670=) SNV Uncertain Significance
413652 rs376306544 GRCh37: 16:2137884-2137884
GRCh38: 16:2087883-2087883
50 TSC2 NM_000548.5(TSC2):c.4072C>G (p.Pro1358Ala) SNV Uncertain Significance
238043 rs878854104 GRCh37: 16:2134295-2134295
GRCh38: 16:2084294-2084294

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 13.84 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 AKT1 MTOR RHEB STK11 TSC1 TSC2
9
Show member pathways
12.99 RPS6KB1 RPS6KA1 RPS6 PIK3CA MTOR EIF4EBP1
10
Show member pathways
12.98 AKT1 MTOR PIK3CA RHEB RPS6KB1 TSC2
11
Show member pathways
12.94 RPS6KB1 RPS6KA1 RPS6 PIK3CA MTOR AKT1
12
Show member pathways
12.93 RPS6KB1 RPS6KA1 RPS6 PIK3CA MTOR AKT1
13 12.91 AKT1 GFAP MTOR PIK3CA RPS6KA1 S100B
14
Show member pathways
12.83 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
12.73 RPS6KB1 RPS6KA1 MTOR EIF4EBP1 AKT1
19 12.66 SYP S100B NF1 GFAP DCX
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 RPS6 PIK3CA MTOR AKT1
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 11.96 TSC2 TSC1 RPS6KB1 RPS6 RHEB PIK3CA
50
Show member pathways
11.94 RPS6KA1 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 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 AKT1 RPS6KA1 RPS6KB1
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 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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