MCID: TBR001
MIFTS: 68

Tuberous Sclerosis

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

Aliases & Classifications for Tuberous Sclerosis

MalaCards integrated aliases for Tuberous Sclerosis:

Name: Tuberous Sclerosis 12 76 53 54 55 43 44 15 40 73
Tuberous Sclerosis Syndrome 12 29 6
Bourneville's Disease 12 76
Tuberous Sclerosis 1 53 73
Tuberous Sclerosis Complex 53
Bourneville's Syndrome 53
Bourneville Syndrome 53
Tuberose Sclerosis 12
Cerebral Sclerosis 12
Epiloia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:13515
ICD10 33 Q85.1
ICD9CM 35 759.5
MeSH 44 D014402
NCIt 50 C3424

Summaries for Tuberous Sclerosis

NINDS : 54 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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Everolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and brain, and related phenotypes are Decreased viability and Decreased viability

NIH Rare Diseases : 53 Tuberous sclerosis is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. Common signs and symptoms include patches of unusually light-colored skin, areas of raised and thickened skin, and growths under the nails. Tumors on the face called facial angiofibromas are also common beginning in childhood. Tumors may cause developmental problems (e.g., seizures, hyperactivity, aggression, learning problems, autistic-like behaviors). Some tumors can cause serious complications (e.g., those affecting the brain, heart, or kidney). Tuberous sclerosis complex has an autosomal dominant pattern of inheritance and can be caused by mutations in the TSC1 or TSC2 gene. Treatment depends on the symptoms in each individual case and may include medications or surgery.

MedlinePlus : 43 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 : 76 Tuberous sclerosis complex (TSC), or epiloia (acronym of \"epilepsy, low intelligence, adenoma... 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 319)
# Related Disease Score Top Affiliating Genes
1 tuberous sclerosis 1 35.6 CCL26 TSC1 TSC2
2 polycystic kidney disease, infantile severe, with tuberous sclerosis 35.3 PKD1 TSC2
3 tuberous sclerosis 2 34.8 MTOR NTHL1 PKD1 TSC1 TSC2
4 lymphangioleiomyomatosis 33.5 MTOR RPS6KB1 TSC1 TSC2
5 subependymal giant cell astrocytoma 32.7 GFAP MTOR SYP TSC1 TSC2
6 angiomyolipoma 32.1 CCL26 MTOR TSC1 TSC2
7 kidney angiomyolipoma 31.9 MTOR RHEB TSC1 TSC2
8 pilocytic astrocytoma 31.5 GFAP NF1 SYP
9 hepatic angiomyolipoma 31.3 MTOR TSC2
10 megalencephaly 31.0 MTOR TBC1D7 TSC1
11 renal cell carcinoma, nonpapillary 30.9 MTOR TSC1 TSC2 VIM
12 perivascular epithelioid cell tumor 30.9 SYP TSC2 VIM
13 ganglioglioma 30.9 GFAP SYP TSC2
14 autosomal dominant polycystic kidney disease 30.9 MTOR PKD1 TSC1 TSC2
15 angiomatosis 30.8 CCL26 TSC2
16 polycystic kidney disease 1 with or without polycystic liver disease 30.6 MTOR PKD1 TSC1 TSC2
17 subependymoma 30.6 GFAP SYP TSC2
18 chordoid meningioma 30.5 GFAP SYP VIM
19 obstructive hydrocephalus 30.3 GFAP NF1 SYP
20 subependymal glioma 30.0 GFAP MTOR SYP TSC1 TSC2
21 focal epilepsy 29.7 MTOR TSC1 TSC2
22 sudanophilic cerebral sclerosis 12.1
23 cerebral sclerosis similar to pelizaeus-merzbacher disease 12.0
24 cerebral sclerosis, diffuse, scholz type 11.9
25 hemimegalencephaly 11.4
26 neuroendocrine tumor 11.3
27 renal oncocytoma 11.3
28 adrenoleukodystrophy 11.3
29 insulinoma 11.3
30 metachromatic leukodystrophy 11.3
31 mitochondrial dna depletion syndrome 4a 11.1
32 tumefactive multiple sclerosis 11.1
33 glioma susceptibility 1 11.0
34 moyamoya disease 1 11.0
35 spinal cancer 11.0
36 autosomal dominant café au lait spots 11.0
37 soft tissue sarcoma 11.0
38 brain and spinal tumors 11.0
39 familial adenomatous polyposis 3 11.0 NTHL1 TSC2
40 adult hepatocellular carcinoma 11.0 TSC1 TSC2
41 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.9 CCL26 TSC1 TSC2
42 kidney benign neoplasm 10.9 MTOR TSC1 TSC2
43 focal cortical dysplasia, type ii 10.9 MTOR TSC1 TSC2
44 polycystic liver disease 1 with or without kidney cysts 10.9 PKD1 TSC1 TSC2
45 desmoplastic infantile ganglioglioma 10.8 GFAP SYP
46 extraventricular neurocytoma 10.8 GFAP SYP
47 primitive neuroectodermal tumor of the cervix uteri 10.8 GFAP VIM
48 adrenal gland pheochromocytoma 10.8 AKT1 MTOR
49 gliofibroma 10.8 GFAP NF1
50 lung combined type small cell carcinoma 10.8 GFAP SYP

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:

26 (show all 33)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.4 MTOR
2 Decreased viability GR00221-A-1 10.4 AKT1 NF1 RHEB MTOR RPS6KA1 RPS6KB1
3 Decreased viability GR00221-A-2 10.4 AKT1 NF1 RPS6KA1
4 Decreased viability GR00221-A-3 10.4 AKT1 RPS6KA1
5 Decreased viability GR00221-A-4 10.4 AKT1 NF1 MTOR RPS6KA1
6 Decreased viability GR00301-A 10.4 RPS6KA1 RPS6KB1
7 Decreased viability GR00342-S-1 10.4 MTOR RPS6KA1
8 Decreased viability GR00342-S-2 10.4 MTOR
9 Decreased viability GR00381-A-1 10.4 RPS6KB1
10 Decreased viability GR00402-S-2 10.4 NF1 RHEB MTOR RPS6KA1 AKT1 RPS6KB1
11 Decreased cell migration GR00055-A-1 9.87 NF1 PKD1 MTOR RPS6KA1 AKT1 TSC1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.75 RHEB MTOR
13 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.75 RHEB MTOR
14 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.75 TSC1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.75 TSC1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.75 DBH
17 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.75 DBH
18 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.75 AKT1 RHEB MTOR
19 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.75 AKT1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.75 DBH
21 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.75 AKT1 DBH RHEB MTOR TSC1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.75 AKT1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.75 RHEB
24 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.75 RHEB
25 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.75 AKT1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.75 MTOR
27 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.75 AKT1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.75 TSC1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.75 AKT1 MTOR
30 Decreased viability with paclitaxel GR00179-A-1 9.55 MTOR RPS6KB1
31 Decreased viability with paclitaxel GR00179-A-2 9.55 MTOR
32 Decreased viability with paclitaxel GR00179-A-3 9.55 MTOR RPS6KB1
33 Increased cell migration GR00055-A-3 9.26 MTOR NF1 PKD1 RPS6KA1

MGI Mouse Phenotypes related to Tuberous Sclerosis:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.32 NF1 EIF4EBP1 AKT1 GFAP MTOR RAP1A
2 cardiovascular system MP:0005385 10.31 NF1 EIF4EBP1 AKT1 GFAP MTOR DBH
3 behavior/neurological MP:0005386 10.29 DBH MTOR DCX AKT1 GFAP SYP
4 homeostasis/metabolism MP:0005376 10.21 NF1 EIF4EBP1 AKT1 GFAP DBH MTOR
5 growth/size/body region MP:0005378 10.18 DBH MTOR DCX EIF4EBP1 GFAP AKT1
6 mortality/aging MP:0010768 10.17 MTOR DCX NF1 EIF4EBP1 AKT1 GFAP
7 embryo MP:0005380 10.11 MTOR AKT1 PKD1 NF1 RHEB RPS6KB1
8 endocrine/exocrine gland MP:0005379 10.09 DBH MTOR AKT1 RPS6KB1 PKD1 NF1
9 muscle MP:0005369 9.96 NF1 EIF4EBP1 AKT1 GFAP MTOR TSC1
10 nervous system MP:0003631 9.77 DCX NF1 AKT1 GFAP DBH MTOR
11 neoplasm MP:0002006 9.7 AKT1 PKD1 NF1 NTHL1 RPS6KB1 TSC1
12 normal MP:0002873 9.28 DBH MTOR GFAP AKT1 PKD1 SYP

Drugs & Therapeutics for Tuberous Sclerosis

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

(show top 50) (show all 104)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 4,Phase 3,Phase 2,Phase 1 159351-69-6 6442177
2
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
4
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
5
Vigabatrin Approved Phase 4,Phase 2 68506-86-5, 60643-86-9 5665
6 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
7 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1
8 Antifungal Agents Phase 4,Phase 3,Phase 2,Phase 1
9 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
10 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
11 Antimalarials Phase 4
12 Antiparasitic Agents Phase 4
13 Antiprotozoal Agents Phase 4
14 Neurotransmitter Agents Phase 4,Phase 2
15 Anticonvulsants Phase 4,Phase 2,Not Applicable
16 GABA Agents Phase 4,Phase 2
17
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
18
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
19
Ethanol Approved Phase 3 64-17-5 702
20
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 134070 5280453
21
Melatonin Approved, Nutraceutical, Vet_approved Phase 3,Phase 1 73-31-4 896
22 Strawberry Approved, Nutraceutical Phase 3
23 Antiemetics Phase 3
24 Anti-Inflammatory Agents Phase 3,Phase 2
25 Autonomic Agents Phase 3
26 Gastrointestinal Agents Phase 3,Phase 2
27 glucocorticoids Phase 3,Phase 2
28 Hormone Antagonists Phase 3,Phase 2
29 Hormones Phase 3,Phase 2
30 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
31 Methylprednisolone acetate Phase 3
32 Methylprednisolone Hemisuccinate Phase 3
33 Neuroprotective Agents Phase 3
34 Peripheral Nervous System Agents Phase 3,Phase 2
35 Prednisolone acetate Phase 3
36 Prednisolone hemisuccinate Phase 3
37 Prednisolone phosphate Phase 3
38 Protective Agents Phase 3,Phase 1,Not Applicable
39 Bone Density Conservation Agents Phase 3
40 Calcium, Dietary Phase 3
41 Micronutrients Phase 3
42 Trace Elements Phase 3
43 Vasoconstrictor Agents Phase 3
44 Vitamins Phase 3
45 Antioxidants Phase 3,Phase 1,Not Applicable
46 Central Nervous System Depressants Phase 3,Phase 1
47 Pharmaceutical Solutions Phase 3,Phase 2
48
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
49
Metformin Approved Phase 2 657-24-9 14219 4091
50
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441

Interventional clinical trials:

(show top 50) (show all 69)
# Name Status NCT ID Phase Drugs
1 Rapamycin In Angiomyolipomas In Patients With Tuberous Sclerosis Completed NCT01217125 Phase 4 Sirolimus
2 Doxycycline In Lymphangioleiomyomatosis (LAM) Completed NCT00989742 Phase 4 Doxycycline;Placebo
3 Long-term Follow-up for Growth and Development of Pediatric Patients From CRAD001M2301 Active, not recruiting NCT02338609 Phase 4 Everolimus;Envirolimus drug class as prescribed by Physician
4 Phase IV Study of Safety and Efficacy of Everolimus (Afinitor®) in Chinese Adult Patients With Angiomyolipoma Associated With Tuberous Sclerosis Complex. Not yet recruiting NCT03525834 Phase 4 everolimus
5 Sabril for Complex Partial Seizures in Adult Tolerability Study (TS) Patients Terminated NCT01266291 Phase 4 vigabatrin
6 Long-term Trial of Topical Sirolimus to Angiofibroma in Patient With Tuberous Sclerosis Complex Unknown status NCT02634931 Phase 3 NPC-12G gel
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 Placebo-controlled Study of Efficacy & Safety of 2 Trough-ranges of Everolimus as Adjunctive Therapy in Patients With Tuberous Sclerosis Complex (TSC) & Refractory Partial-onset Seizures Completed NCT01713946 Phase 3 RAD001;Placebo
10 Efficacy and Safety of Everolimus (RAD001) in Patients of All Ages With Subependymal Giant Cell Astrocytoma Associated With Tuberous Sclerosis Complex (TSC)(EXIST-1) Completed NCT00789828 Phase 3 Everolimus;Placebo
11 Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00790400 Phase 3 Everolimus (RAD001);Everolimus Placebo
12 Phase III Trial of Topical Formulation of Sirolimus to Skin Lesions in Patients With Tuberous Sclerosis Complex (TSC) Completed NCT02635789 Phase 3 NPC-12G gel;Placebo gel
13 Topical Rapamycin and Calcitriol for Angiofibroma of Tuberous Sclerosis Completed NCT03140449 Phase 3 Rapamycin;Calcitriol;Rapamycin-calcitriol combination
14 Efficacy and Safety of Circadin® in the Treatment of Sleep Disturbances in Children With Neurodevelopment Disabilities Completed NCT01906866 Phase 3 Circadin 2/5/10 mg;Placebo
15 A Randomized Controlled Trial of Cannabidiol (GWP42003-P, CBD) for Seizures in Tuberous Sclerosis Complex (GWPCARE6) Recruiting NCT02544763 Phase 3 GWP42003-P;Placebo
16 Roll-over Study to Collect and Assess Long-term Safety of Everolimus in Patients With TSC and Refractory Seizures Who Have Completed the EXIST-3 Study [CRAD001M2304] and Who Are Benefitting From Continued Treatment Recruiting NCT02962414 Phase 3 everolimus
17 An Open-label Extension Trial of Cannabidiol (GWP42003-P, CBD) for Seizures in Tuberous Sclerosis Complex (GWPCARE6) Enrolling by invitation NCT02544750 Phase 3 GWP42003-P
18 Topical Everolimus in Patients With Tuberous Sclerosis Complex Not yet recruiting NCT02860494 Phase 2, Phase 3 Everolimus;Placebo
19 Trial of Efficacy and Safety of Sirolimus in Tuberous Sclerosis and LAM Unknown status NCT00490789 Phase 2 sirolimus
20 Single Arm Trial With Combination of Everolimus and Letrozole in Treatment of Platinum Resistant Relapse or Refractory or Persistent Ovarian Cancer/Endometrial Cancer Unknown status NCT02188550 Phase 2 everolimus and letrozole
21 Activity and Safety of Everolimus+Octreotide LAR+Metformin in Advanced Pancreatic Well-differentiated NETs Unknown status NCT02294006 Phase 2 Everolimus plus Octreotide LAR plus Metformin
22 Sirolimus in Treating Patients With Angiomyolipoma of the Kidney Unknown status NCT00126672 Phase 2 sirolimus
23 Rapamycin Therapy for Patients With Tuberous Sclerosis Complex and Sporadic LAM Completed NCT00457808 Phase 2 Rapamycin, sirolimus
24 Trial of RAD001 and Neurocognition in Tuberous Sclerosis Complex (TSC) Completed NCT01289912 Phase 2 RAD001;Placebo
25 Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers Completed NCT02104011 Phase 2 Propranolol
26 Everolimus (RAD001) Therapy for Epilepsy in Patients With Tuberous Sclerosis Complex (TSC) Completed NCT01070316 Phase 1, Phase 2 Everolimus
27 Everolimus (RAD001) Therapy of Giant Cell Astrocytoma in Patients With Tuberous Sclerosis Complex Completed NCT00411619 Phase 1, Phase 2 Everolimus
28 Long Term Follow Up for RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis (TSC) and Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00792766 Phase 1, Phase 2 everolimus (RAD001)
29 RAD001 Therapy of Angiomyolipomata in Patients With TS Complex and Sporadic LAM Completed NCT00457964 Phase 1, Phase 2 RAD001
30 Topical Rapamycin to Erase Angiofibromas in TSC Completed NCT01526356 Phase 2 Placebo;Rapamycin;Rapamycin
31 Rapalogues for Autism Phenotype in TSC: A Feasibility Study Completed NCT01929642 Phase 2 Sirolimus;Everolimus
32 High-Dose Immunosuppression and Autologous Transplantation for Multiple Sclerosis (HALT MS) Study Completed NCT00288626 Phase 2 Granulocyte-colony stimulating factor (G-CSF) and prednisone;Carmustine, etoposide, cytarabine, and melphalan (BEAM)
33 Preventing Epilepsy Using Vigabatrin In Infants With Tuberous Sclerosis Complex Recruiting NCT02849457 Phase 2 Vigabatrin;Placebo
34 Topical Sirolimus Ointment for Cutaneous Angiofibromas in Subjects With Tuberous Sclerosis Complex Recruiting NCT03363763 Phase 2 Sirolimus 0.2%;Sirolimus 0.4%;Placebo ointment
35 Aspirin as an add-on Treatment of Refractory Epilepsy in Tuberous Sclerosis Complex Recruiting NCT03356769 Phase 2 Aspirin;AED;Placebo
36 Safety of Simvastatin in LAM and TSC Recruiting NCT02061397 Phase 1, Phase 2 Simvastatin
37 A Pilot Study To Evaluate The Effects of Everolimus on Brain mTOR Activity and Cortical Hyperexcitability in TSC and FCD Recruiting NCT02451696 Phase 2 Everolimus
38 Everolimus for Cancer With TSC1 or TSC2 Mutation Recruiting NCT02201212 Phase 2 Everolimus
39 Sapanisertib in Treating Patients With Locally Advanced or Metastatic Bladder Cancer With TSC1 and/or TSC2 Mutations Recruiting NCT03047213 Phase 2 Sapanisertib
40 A Study of Everolimus in the Treatment of Neurocognitive Problems in Tuberous Sclerosis Active, not recruiting NCT01954693 Phase 2 Placebo;Everolimus (RAD001)
41 A Phase II Study of Orally Administered BEZ235 Monotherapy in Patients With Metastatic or Unresectable Malignant PEComa Withdrawn NCT01690871 Phase 2 BEZ235
42 Topical Rapamycin Therapy to Alleviate Cutaneous Manifestations of Tuberous Sclerosis Complex (TSC) and Neurofibromatosis I (NF1) Completed NCT01031901 Phase 1 Skincerity;Skincerity plus sirolimus/rapamycin;Skinercity plus sirolimus/rapamycin
43 Tuberous Sclerosis Complex: Facial Angiofibroma Skin Cream Completed NCT01853423 Phase 1 Rapamune
44 Assessment of the Pharmacokinetics of Circadin® in Children With Neurodevelopmental Disorders and Sleep Disturbances Completed NCT01903681 Phase 1 Circadin 2 mg;Circadin 10 mg
45 The Cognitive Variability in NF1 and TSC Monozygotic Twins Unknown status NCT02436746
46 Tuberous Sclerosis Complex Natural History Study: Renal Manifestations Completed NCT00598455
47 Early Behavioral Intervention to Improve Social Communication Function in Infants With Tuberous Sclerosis Complex Completed NCT02687633 Not Applicable
48 Effect of Fasting on the Size of Abdominal Lymphatic Tumors in Women Completed NCT00552955
49 Evaluation of New Biomarkers Predictive of Efficacy Betablockers in PEComa and Vascular Pediatric Tumors Completed NCT02334930
50 Official Record of Patients Diagnosed With Lymphangioleiomyomatosis (LAM) Completed NCT00001869

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:

41
Skin, Kidney, Brain, Heart, Lung, Eye, Liver

Publications for Tuberous Sclerosis

Articles related to Tuberous Sclerosis:

(show top 50) (show all 1525)
# Title Authors Year
1
Resective Surgery for Double Epileptic Foci Overlapping Anterior and Posterior Language Areas: A Case of Epilepsy With Tuberous Sclerosis Complex. ( 29867747 )
2018
2
Reply to "Renal Lesions in Lymphangioleiomyomatosis and Tuberous Sclerosis Complex Are Rarely Biologically Aggressive". ( 29469631 )
2018
3
Rhinencephalon changes in tuberous sclerosis complex. ( 29909560 )
2018
4
Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the <i>TSC1</i> and <i>TSC2</i> genes. ( 29932062 )
2018
5
Magnetic resonance imaging of tuberous sclerosis complex with or without epilepsy at 7A T. ( 29869697 )
2018
6
Tuberous Sclerosis Complex and Diffuse Lipomatosis: Case Report of a Rare Association. ( 29441296 )
2018
7
A rare case of giant renal angiomyolipoma in a woman with tuberous sclerosis. ( 29942788 )
2018
8
Persistence of self-injury, aggression and property destruction in children and adults with tuberous sclerosis complex. ( 29417652 )
2018
9
Genetic and imaging features of cerebellar abnormalities in tuberous sclerosis complex: more insights into their pathogenesis. ( 29882962 )
2018
10
mTOR dysregulation and tuberous sclerosis-related epilepsy. ( 29338461 )
2018
11
Calcification in cerebral parenchyma affects pharmacoresistant epilepsy in tuberous sclerosis. ( 29929111 )
2018
12
Chronic papilledema in a child with classical tuberous sclerosis. ( 29283138 )
2018
13
Consequences of delay in screening, monitoring, and treatment of angiomyolipoma and tuberous sclerosis: A case reporta8c. ( 29701176 )
2018
14
Comparative Effects of Topical 0.2% Sirolimus for Angiofibromas in Adults and Pediatric Patients with Tuberous Sclerosis Complex. ( 29925060 )
2018
15
Tuberous sclerosis complex-associated CNS abnormalities depend on hyperactivation of mTORC1 and Akt. ( 29389670 )
2018
16
Secular changes in severity of intellectual disability in tuberous sclerosis complex: A reflection of improved identification and treatment of epileptic spasms? ( 29881807 )
2018
17
Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations. ( 29880258 )
2018
18
Clinical Course of Histologically Proven Multifocal Micronodular Pneumocyte Hyperplasia in Tuberous Sclerosis Complex: A Case Series and Comparison with Lymphangiomyomatosis. ( 29393256 )
2018
19
Molecular Characterization and Putative Pathogenic Pathways of Tuberous Sclerosis Complex-Associated Renal Cell Carcinoma. ( 29925043 )
2018
20
Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures? ( 29378663 )
2018
21
Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness. ( 29697822 )
2018
22
Renal manifestations of tuberous sclerosis complex: patients' and parents' knowledge and routines for renal follow-up - a questionnaire study. ( 29439672 )
2018
23
Deep phenotyping of patients with tuberous sclerosis complex and no mutation identified in Tsc1 and Tsc2. ( 29432982 )
2018
24
Tuberous sclerosis complex with Best's vitelliform macular dystrophy: A combined presentation. ( 29380781 )
2018
25
Atypical subependymal giant cell astrocytoma and neonatal tuberous sclerosis. ( 29555882 )
2018
26
Sclerotic bone lesions as a potential imaging biomarker for the diagnosis of tuberous sclerosis complex. ( 29343816 )
2018
27
The effect of everolimus on renal angiomyolipoma in pediatric patients with tuberous sclerosis being treated for subependymal giant cell astrocytoma. ( 28993887 )
2018
28
Retrospective study: Rapamycin or rapalog 0.1% cream for facial angiofibromas in Tuberous Sclerosis Complex: Evaluation of treatment effectiveness and cost. ( 29380350 )
2018
29
Refractory epilepsy in preschool children with tuberous sclerosis complex: Early surgical treatment and outcome. ( 29929109 )
2018
30
Bilateral Giant Renal Angiomyolipoma in a Patient with Tuberous Sclerosis Complex: A Case Report. ( 29686177 )
2018
31
Tuberous sclerosis complex: review based on new diagnostic criteria. ( 29924239 )
2018
32
Spontaneous reduction of native kidney size involving angiomyolipoma lesions in a kidney transplant recipient with tuberous sclerosis complex. ( 29417638 )
2018
33
Ictal signs in tuberous sclerosis complex: Clinical and video-EEG features in a large series of recorded seizures. ( 29906696 )
2018
34
Economic burden, work, and school productivity in individuals with tuberous sclerosis and their families. ( 29890870 )
2018
35
Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings. ( 29926239 )
2018
36
Loss of tuberous sclerosis complex 2 sensitizes tumors to nelfinavir-bortezomib therapy to intensify endoplasmic reticulum stress-induced cell death. ( 29980790 )
2018
37
Corrigendum to &amp;quot;Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex&amp;quot; [Mol. Genet. Metab. 120(4) (Apr 2017) 384-391]. ( 29325814 )
2018
38
Aggressive Renal Angiomyolipoma in a Patient with Tuberous Sclerosis Resulting in Pulmonary Tumor Embolus and Pulmonary Infarction<sup/>. ( 29885779 )
2018
39
A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex. ( 29490614 )
2018
40
Antenatal screening and diagnosis of tuberous sclerosis complex by fetal echocardiography and targeted genomic sequencing. ( 29642139 )
2018
41
Decreased rates of cerebral protein synthesis measured in vivo in a mouse model of Tuberous Sclerosis Complex: unexpected consequences of reduced tuberin. ( 29364507 )
2018
42
Downregulation of PERK activity and eIF2I+ serine 51 phosphorylation by mTOR complex 1 elicits pro-oxidant and pro-death effects in tuberous sclerosis-deficient cells. ( 29449538 )
2018
43
Renal Lesions in Lymphangioleiomyomatosis and Tuberous Sclerosis Complex Are Rarely Biologically Aggressive. ( 29469627 )
2018
44
A family case with germline <i>TSC1</i> and mtDNA mutations developing bilateral eosinophilic chromophobe renal cell carcinomas without other typical phenotype of tuberous sclerosis. ( 29960980 )
2018
45
Pulmonary Lymphangiomyomatosis Associated with Renal and Hepatic Angiomyolipoma Mass in a Patient with Tuberous Sclerosis Complex. ( 29237943 )
2017
46
Chromophobe renal cell carcinoma-like thyroid carcinoma: A novel clinicopathologic entity possibly associated with tuberous sclerosis complex. ( 28680002 )
2017
47
Utility of the Autism Observation Scale for Infants in Early Identification of Autism in Tuberous Sclerosis Complex. ( 28844798 )
2017
48
Reprogramming patient-derived tumor cells generates model cell lines for tuberous sclerosis-associated lymphangioleiomyomatosis. ( 29344553 )
2017
49
Functional validation of the oncogenic cooperativity and targeting potential of tuberous sclerosis mutation in medulloblastoma using a MYC-amplified model cell line. ( 28409891 )
2017
50
Multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis complex: A case report without lymphangioleiomyomatosis association. ( 28550981 )
2017

Variations for Tuberous Sclerosis

ClinVar genetic disease variations for Tuberous Sclerosis:

6
(show top 50) (show all 890)
# Gene Variation Type Significance SNP ID Assembly Location
1 TSC1 NM_000368.4(TSC1): c.1888_1891delAAAG (p.Lys630Glnfs) deletion Pathogenic rs118203595 GRCh37 Chromosome 9, 135781074: 135781077
2 TSC1 NM_000368.4(TSC1): c.1888_1891delAAAG (p.Lys630Glnfs) deletion Pathogenic rs118203595 GRCh38 Chromosome 9, 132905687: 132905690
3 TSC1 NM_000368.4(TSC1): c.749T> A (p.Leu250Ter) single nucleotide variant Pathogenic rs118203447 GRCh37 Chromosome 9, 135787833: 135787833
4 TSC1 NM_000368.4(TSC1): c.749T> A (p.Leu250Ter) single nucleotide variant Pathogenic rs118203447 GRCh38 Chromosome 9, 132912446: 132912446
5 TSC1 NM_000368.4(TSC1): c.1904_1905delCA (p.Thr635Argfs) deletion Pathogenic rs118203597 GRCh37 Chromosome 9, 135781060: 135781061
6 TSC1 NM_000368.4(TSC1): c.1904_1905delCA (p.Thr635Argfs) deletion Pathogenic rs118203597 GRCh38 Chromosome 9, 132905673: 132905674
7 TSC1 NM_000368.4(TSC1): c.671T> G (p.Met224Arg) single nucleotide variant Pathogenic rs118203426 GRCh37 Chromosome 9, 135796816: 135796816
8 TSC1 NM_000368.4(TSC1): c.671T> G (p.Met224Arg) single nucleotide variant Pathogenic rs118203426 GRCh38 Chromosome 9, 132921429: 132921429
9 TSC1 NM_000368.4(TSC1): c.539T> C (p.Leu180Pro) single nucleotide variant Pathogenic rs118203396 GRCh37 Chromosome 9, 135797330: 135797330
10 TSC1 NM_000368.4(TSC1): c.539T> C (p.Leu180Pro) single nucleotide variant Pathogenic rs118203396 GRCh38 Chromosome 9, 132921943: 132921943
11 TSC2 NM_000548.4(TSC2): c.4642delC (p.Leu1548Cysfs) deletion Pathogenic rs137854083 GRCh37 Chromosome 16, 2135303: 2135303
12 TSC2 NM_000548.4(TSC2): c.4642delC (p.Leu1548Cysfs) deletion Pathogenic rs137854083 GRCh38 Chromosome 16, 2085302: 2085302
13 TSC2 NM_000548.4(TSC2): c.5024C> T (p.Pro1675Leu) single nucleotide variant Pathogenic rs45483392 GRCh37 Chromosome 16, 2137898: 2137898
14 TSC2 NM_000548.4(TSC2): c.5024C> T (p.Pro1675Leu) single nucleotide variant Pathogenic rs45483392 GRCh38 Chromosome 16, 2087897: 2087897
15 TSC2 NM_000548.4(TSC2): c.34A> T (p.Lys12Ter) single nucleotide variant Pathogenic rs45512692 GRCh37 Chromosome 16, 2098650: 2098650
16 TSC2 NM_000548.4(TSC2): c.34A> T (p.Lys12Ter) single nucleotide variant Pathogenic rs45512692 GRCh38 Chromosome 16, 2048649: 2048649
17 TSC2 NM_000548.4(TSC2): c.2056_2059dupTACT (p.Ser687Leufs) duplication Pathogenic rs137854337 GRCh37 Chromosome 16, 2121894: 2121897
18 TSC2 NM_000548.4(TSC2): c.2056_2059dupTACT (p.Ser687Leufs) duplication Pathogenic rs137854337 GRCh38 Chromosome 16, 2071893: 2071896
19 TSC2 NM_000548.4(TSC2): c.1513C> T (p.Arg505Ter) single nucleotide variant Pathogenic rs45517179 GRCh37 Chromosome 16, 2114342: 2114342
20 TSC2 NM_000548.4(TSC2): c.1513C> T (p.Arg505Ter) single nucleotide variant Pathogenic rs45517179 GRCh38 Chromosome 16, 2064341: 2064341
21 TSC2 NM_000548.4(TSC2): c.1832G> A (p.Arg611Gln) single nucleotide variant Pathogenic rs28934872 GRCh37 Chromosome 16, 2120572: 2120572
22 TSC2 NM_000548.4(TSC2): c.1832G> A (p.Arg611Gln) single nucleotide variant Pathogenic rs28934872 GRCh38 Chromosome 16, 2070571: 2070571
23 TSC2 NM_000548.4(TSC2): c.2150T> G (p.Leu717Arg) single nucleotide variant Pathogenic rs45517214 GRCh37 Chromosome 16, 2122294: 2122294
24 TSC2 NM_000548.4(TSC2): c.2150T> G (p.Leu717Arg) single nucleotide variant Pathogenic rs45517214 GRCh38 Chromosome 16, 2072293: 2072293
25 TSC2 NM_000548.4(TSC2): c.1432C> T (p.Gln478Ter) single nucleotide variant Pathogenic rs121964862 GRCh37 Chromosome 16, 2113043: 2113043
26 TSC2 NM_000548.4(TSC2): c.1432C> T (p.Gln478Ter) single nucleotide variant Pathogenic rs121964862 GRCh38 Chromosome 16, 2063042: 2063042
27 TSC2 NM_000548.4(TSC2): c.1096G> T (p.Glu366Ter) single nucleotide variant Pathogenic rs45517148 GRCh37 Chromosome 16, 2110791: 2110791
28 TSC2 NM_000548.4(TSC2): c.1096G> T (p.Glu366Ter) single nucleotide variant Pathogenic rs45517148 GRCh38 Chromosome 16, 2060790: 2060790
29 TSC2 NM_000548.4(TSC2): c.5238_5255del18 (p.His1746_Arg1751del) deletion Pathogenic rs137854218 GRCh37 Chromosome 16, 2138305: 2138322
30 TSC2 NM_000548.4(TSC2): c.5238_5255del18 (p.His1746_Arg1751del) deletion Pathogenic rs137854218 GRCh38 Chromosome 16, 2088304: 2088321
31 TSC2 NM_000548.4(TSC2): c.2714G> A (p.Arg905Gln) single nucleotide variant Pathogenic rs45517259 GRCh37 Chromosome 16, 2126143: 2126143
32 TSC2 NM_000548.4(TSC2): c.2714G> A (p.Arg905Gln) single nucleotide variant Pathogenic rs45517259 GRCh38 Chromosome 16, 2076142: 2076142
33 TSC2 NM_000548.4(TSC2): c.2713C> T (p.Arg905Trp) single nucleotide variant Pathogenic rs45517258 GRCh37 Chromosome 16, 2126142: 2126142
34 TSC2 NM_000548.4(TSC2): c.2713C> T (p.Arg905Trp) single nucleotide variant Pathogenic rs45517258 GRCh38 Chromosome 16, 2076141: 2076141
35 TSC2 NM_000548.4(TSC2): c.2713C> G (p.Arg905Gly) single nucleotide variant Pathogenic rs45517258 GRCh37 Chromosome 16, 2126142: 2126142
36 TSC2 NM_000548.4(TSC2): c.2713C> G (p.Arg905Gly) single nucleotide variant Pathogenic rs45517258 GRCh38 Chromosome 16, 2076141: 2076141
37 TSC2 NM_000548.4(TSC2): c.2355+2_2355+5delTAGG deletion Pathogenic rs137854250 GRCh37 Chromosome 16, 2122986: 2122989
38 TSC2 NM_000548.4(TSC2): c.2355+2_2355+5delTAGG deletion Pathogenic rs137854250 GRCh38 Chromosome 16, 2072985: 2072988
39 TSC2 NM_000548.4(TSC2): c.1322G> A (p.Trp441Ter) single nucleotide variant Pathogenic rs45515894 GRCh37 Chromosome 16, 2112562: 2112562
40 TSC2 NM_000548.4(TSC2): c.1322G> A (p.Trp441Ter) single nucleotide variant Pathogenic rs45515894 GRCh38 Chromosome 16, 2062561: 2062561
41 TSC1 NM_000368.4(TSC1): c.1152delA (p.Gly385Glufs) deletion Pathogenic rs118203501 GRCh37 Chromosome 9, 135786069: 135786069
42 TSC1 NM_000368.4(TSC1): c.1152delA (p.Gly385Glufs) deletion Pathogenic rs118203501 GRCh38 Chromosome 9, 132910682: 132910682
43 TSC1 NM_000368.4(TSC1): c.1257delC (p.Arg420Glyfs) deletion Pathogenic rs118203506 GRCh37 Chromosome 9, 135785964: 135785964
44 TSC1 NM_000368.4(TSC1): c.1257delC (p.Arg420Glyfs) deletion Pathogenic rs118203506 GRCh38 Chromosome 9, 132910577: 132910577
45 TSC1 NM_000368.4(TSC1): c.1431_1434delAGAA (p.Glu478Lysfs) deletion Pathogenic rs118203527 GRCh37 Chromosome 9, 135782122: 135782125
46 TSC1 NM_000368.4(TSC1): c.1431_1434delAGAA (p.Glu478Lysfs) deletion Pathogenic rs118203527 GRCh38 Chromosome 9, 132906735: 132906738
47 TSC1 NM_000368.4(TSC1): c.1498C> T (p.Arg500Ter) single nucleotide variant Pathogenic rs118203537 GRCh37 Chromosome 9, 135781467: 135781467
48 TSC1 NM_000368.4(TSC1): c.1498C> T (p.Arg500Ter) single nucleotide variant Pathogenic rs118203537 GRCh38 Chromosome 9, 132906080: 132906080
49 TSC1 NM_000368.4(TSC1): c.1525C> T (p.Arg509Ter) single nucleotide variant Pathogenic rs118203542 GRCh37 Chromosome 9, 135781440: 135781440
50 TSC1 NM_000368.4(TSC1): c.1525C> T (p.Arg509Ter) single nucleotide variant Pathogenic rs118203542 GRCh38 Chromosome 9, 132906053: 132906053

Copy number variations for Tuberous Sclerosis from CNVD:

7
# CNVD ID Chromosom 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 78)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.92 AKT1 CCL26 GFAP MTOR NF1 RAP1A
2
Show member pathways
13.61 AKT1 MTOR RHEB RPS6 RPS6KA1 RPS6KB1
3
Show member pathways
13.57 AKT1 CCL26 DCX EIF4EBP1 MTOR RPS6
4
Show member pathways
13.44 AKT1 CCL26 EIF4EBP1 MTOR RPS6KB1 TSC1
5
Show member pathways
13.16 AKT1 EIF4EBP1 MTOR RHEB RPS6 RPS6KA1
6
Show member pathways
13.08 AKT1 EIF4EBP1 MTOR RHEB RPS6 RPS6KB1
7
Show member pathways
13 AKT1 EIF4EBP1 MTOR RHEB RPS6 RPS6KA1
8
Show member pathways
12.97 AKT1 MTOR RAP1A RPS6 RPS6KA1 RPS6KB1
9
Show member pathways
12.93 AKT1 MTOR RAP1A RPS6 RPS6KA1 RPS6KB1
10
Show member pathways
12.93 AKT1 EIF4EBP1 MTOR RHEB RPS6KB1 TSC2
11
Show member pathways
12.88 AKT1 EIF4EBP1 MTOR NF1 RPS6 RPS6KB1
12
Show member pathways
12.84 AKT1 EIF4EBP1 MTOR RPS6 RPS6KB1
13
Show member pathways
12.77 AKT1 EIF4EBP1 MTOR RAP1A RPS6KA1
14
Show member pathways
12.76 AKT1 MTOR RAP1A RHEB RPS6KB1 TSC2
15 12.66 DBH DCX GFAP NF1 SYP
16
Show member pathways
12.62 AKT1 EIF4EBP1 MTOR RHEB RPS6KA1 RPS6KB1
17
Show member pathways
12.6 AKT1 EIF4EBP1 MTOR RPS6 RPS6KA1 RPS6KB1
18
Show member pathways
12.55 AKT1 EIF4EBP1 MTOR RAP1A RPS6KB1
19
Show member pathways
12.52 AKT1 EIF4EBP1 MTOR RPS6KA1 RPS6KB1
20
Show member pathways
12.52 AKT1 EIF4EBP1 MTOR RHEB RPS6KB1 TSC1
21
Show member pathways
12.48 AKT1 EIF4EBP1 MTOR RHEB RPS6 RPS6KA1
22
Show member pathways
12.47 AKT1 EIF4EBP1 MTOR RHEB RPS6 RPS6KA1
23
Show member pathways
12.46 AKT1 EIF4EBP1 MTOR RHEB RPS6 RPS6KB1
24 12.4 EIF4EBP1 MTOR RPS6 RPS6KB1 TSC1 TSC2
25
Show member pathways
12.4 AKT1 EIF4EBP1 MTOR RPS6 RPS6KB1 TSC1
26
Show member pathways
12.39 AKT1 EIF4EBP1 MTOR RAP1A
27
Show member pathways
12.37 AKT1 MTOR RAP1A RPS6KB1
28
Show member pathways
12.35 AKT1 EIF4EBP1 MTOR RPS6KB1 TSC1 TSC2
29 12.34 AKT1 MTOR RPS6 RPS6KB1
30 12.32 AKT1 EIF4EBP1 MTOR RAP1A RPS6KA1 RPS6KB1
31 12.3 AKT1 EIF4EBP1 MTOR RHEB TSC1 TSC2
32 12.26 AKT1 EIF4EBP1 MTOR RHEB RPS6KB1 TSC1
33
Show member pathways
12.24 AKT1 RPS6 RPS6KA1 RPS6KB1
34
Show member pathways
12.24 AKT1 MTOR RHEB RPS6KA1
35
Show member pathways
12.24 AKT1 MTOR RHEB RPS6KB1 TSC2
36
Show member pathways
12.24 AKT1 EIF4EBP1 MTOR RPS6KB1 TSC2
37 12.24 AKT1 MTOR NF1 RAP1A RHEB TSC1
38
Show member pathways
12.22 AKT1 EIF4EBP1 MTOR RHEB RPS6KB1 TSC1
39
Show member pathways
12.2 MTOR RHEB TSC1 TSC2
40 12.18 AKT1 MTOR RHEB RPS6KB1 TSC1 TSC2
41
Show member pathways
12.16 EIF4EBP1 MTOR RHEB RPS6 RPS6KB1 TSC1
42 12.15 AKT1 MTOR RPS6 RPS6KB1
43
Show member pathways
12.14 AKT1 RPS6 RPS6KA1 RPS6KB1
44
Show member pathways
12.14 EIF4EBP1 MTOR RHEB RPS6KB1 TSC2
45 12.13 AKT1 EIF4EBP1 MTOR RAP1A RPS6 RPS6KA1
46 12.09 AKT1 MTOR NF1 RPS6KB1 TSC1 TSC2
47 12.07 AKT1 MTOR RHEB TSC2
48
Show member pathways
12.07 AKT1 EIF4EBP1 MTOR RPS6KB1
49 12.05 AKT1 EIF4EBP1 MTOR RPS6 RPS6KB1
50
Show member pathways
12.04 AKT1 MTOR RPS6KA1 RPS6KB1

GO Terms for Tuberous Sclerosis

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.86 AKT1 DBH DCX EIF4EBP1 GFAP MTOR
2 neuron projection GO:0043005 9.65 DCX RAP1A RPS6KB1 SYP VIM
3 cytosol GO:0005829 9.5 AKT1 DCX EIF4EBP1 GFAP MTOR NF1
4 TSC1-TSC2 complex GO:0033596 9.16 TSC1 TSC2

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.97 CCL26 NF1 RAP1A TBC1D7 TSC2
2 peptidyl-serine phosphorylation GO:0018105 9.84 AKT1 MTOR PKD1 RPS6KB1
3 regulation of translation GO:0006417 9.83 AKT1 EIF4EBP1 RPS6KB1 TSC1
4 cellular response to interferon-gamma GO:0071346 9.82 CCL26 RPS6KB1 VIM
5 response to insulin GO:0032868 9.8 MTOR RPS6KB1 TSC1
6 cellular response to organic cyclic compound GO:0071407 9.8 AKT1 RAP1A RPS6KB1
7 positive regulation of translation GO:0045727 9.79 MTOR RPS6KB1 VIM
8 negative regulation of neuron projection development GO:0010977 9.77 GFAP TSC1 VIM
9 positive regulation of smooth muscle cell proliferation GO:0048661 9.75 AKT1 MTOR RPS6KB1
10 protein kinase B signaling GO:0043491 9.73 AKT1 RPS6KB1 TSC2
11 visual learning GO:0008542 9.72 DBH MTOR NF1
12 cell cycle arrest GO:0007050 9.72 MTOR PKD1 RHEB TSC1 TSC2
13 positive regulation of endothelial cell proliferation GO:0001938 9.71 AKT1 CCL26 MTOR NF1
14 germ cell development GO:0007281 9.67 AKT1 MTOR RPS6KB1
15 positive regulation of lipid biosynthetic process GO:0046889 9.65 AKT1 MTOR
16 insulin-like growth factor receptor signaling pathway GO:0048009 9.65 AKT1 TSC2
17 regulation of cell-matrix adhesion GO:0001952 9.64 NF1 TSC1
18 positive regulation of glial cell proliferation GO:0060252 9.63 GFAP MTOR
19 negative regulation of TOR signaling GO:0032007 9.63 TBC1D7 TSC1 TSC2
20 response to fluid shear stress GO:0034405 9.61 AKT1 PKD1
21 Bergmann glial cell differentiation GO:0060020 9.61 GFAP VIM
22 negative regulation of insulin receptor signaling pathway GO:0046627 9.61 RPS6KB1 TSC1 TSC2
23 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.59 AKT1 PKD1
24 regulation of glycogen biosynthetic process GO:0005979 9.58 AKT1 MTOR
25 negative regulation of macroautophagy GO:0016242 9.54 AKT1 MTOR TSC1
26 activation-induced cell death of T cells GO:0006924 9.51 AKT1 RPS6
27 intermediate filament-based process GO:0045103 9.48 GFAP VIM
28 anoikis GO:0043276 9.43 AKT1 MTOR TSC2
29 negative regulation of cell size GO:0045792 9.33 AKT1 MTOR TSC1
30 spinal cord development GO:0021510 9.26 AKT1 MTOR NF1 PKD1
31 TOR signaling GO:0031929 9.02 AKT1 EIF4EBP1 MTOR RPS6 RPS6KB1

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

# Name GO ID Score Top Affiliating Genes
1 binding GO:0005488 9.56 MTOR NF1 TSC1 TSC2
2 GTPase activating protein binding GO:0032794 9.32 AKT1 TSC1
3 ribosomal protein S6 kinase activity GO:0004711 9.16 RPS6KA1 RPS6KB1
4 protein serine/threonine/tyrosine kinase activity GO:0004712 9.13 AKT1 RPS6KA1 RPS6KB1
5 protein kinase binding GO:0019901 9.1 AKT1 DCX MTOR PKD1 RHEB RPS6
6 protein binding GO:0005515 10.3 AKT1 DCX EIF4EBP1 GFAP MTOR NF1

Sources for Tuberous Sclerosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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