MCID: TBR001
MIFTS: 69

Tuberous Sclerosis

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

Aliases & Classifications for Tuberous Sclerosis

MalaCards integrated aliases for Tuberous Sclerosis:

Name: Tuberous Sclerosis 12 72 49 50 51 40 41 14 69
Tuberous Sclerosis Syndrome 12 28
Bourneville's Disease 12 72
Tuberous Sclerosis 1 49 69
Tuberous Sclerosis Complex 49
Tuberose Sclerosis 12
Cerebral Sclerosis 12
Epiloia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:13515
ICD10 32 Q85.1
ICD9CM 34 759.5
MeSH 41 D014402
NCIt 46 C3424

Summaries for Tuberous Sclerosis

NIH Rare Diseases : 49 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. Last updated: 5/19/2016

MalaCards based summary : Tuberous Sclerosis, also known as tuberous sclerosis syndrome, is related to tuberous sclerosis 1 and tuberous sclerosis 2, and has symptoms including seizures, sleeplessness and vertigo/dizziness. An important gene associated with Tuberous Sclerosis is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways are Signaling by GPCR and ERK Signaling. The drugs 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

MedlinePlus : 40 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

NINDS : 50 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.

Wikipedia : 72 Tuberous sclerosis complex (TSC) is a rare multisystem genetic disease that causes benign tumors to grow... 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 330)
# Related Disease Score Top Affiliating Genes
1 tuberous sclerosis 1 35.1 CCL26 TSC1 TSC2
2 tuberous sclerosis 2 34.8 MTOR TSC1 TSC2
3 polycystic kidney disease, infantile severe, with tuberous sclerosis 34.7 PKD1 TSC2
4 lymphangioleiomyomatosis 33.0 MTOR RPS6KB1 TSC1 TSC2
5 subependymal giant cell astrocytoma 32.4 GFAP MTOR S100B SYP TSC1 TSC2
6 angiomyolipoma 31.7 CCL26 MTOR TSC1 TSC2
7 pilocytic astrocytoma 31.7 GFAP NF1 SYP
8 congenital heart defects, hamartomas of tongue, and polysyndactyly 31.2 CCL26 TSC1 TSC2
9 chordoma 30.8 GFAP S100B VIM
10 neurofibromatosis, type iv, of riccardi 30.7 NF1 S100B TSC1 TSC2
11 astrocytoma 30.6 AKT1 GFAP NF1 S100B SYP TSC2
12 kidney angiomyolipoma 30.5 MTOR RHEB TSC1 TSC2
13 megalencephaly 30.5 MTOR S100B TBC1D7 TSC1
14 autosomal dominant polycystic kidney disease 30.5 MTOR PKD1 TSC1 TSC2
15 perivascular epithelioid cell tumor 30.4 SYP TSC2 VIM
16 renal cell carcinoma, nonpapillary 30.4 AKT1 CCL26 EIF4EBP1 MTOR TSC1 TSC2
17 ganglioglioma 30.4 GFAP S100B SYP TSC2
18 angiomatosis 30.3 CCL26 TSC2
19 obstructive hydrocephalus 30.0 GFAP NF1 SYP
20 kidney cancer 30.0 AKT1 MTOR TSC1 TSC2
21 chordoid meningioma 29.9 GFAP S100B SYP VIM
22 subependymal glioma 29.9 GFAP MTOR SYP TSC1 TSC2
23 meningioma, familial 29.8 GFAP NF1 S100B SYP VIM
24 focal epilepsy 29.7 MTOR TSC1 TSC2
25 sudanophilic cerebral sclerosis 12.1
26 cerebral sclerosis similar to pelizaeus-merzbacher disease 12.0
27 cerebral sclerosis, diffuse, scholz type 11.9
28 hemimegalencephaly 11.4
29 renal oncocytoma 11.3
30 insulinoma 11.3
31 adrenoleukodystrophy 11.3
32 metachromatic leukodystrophy 11.3
33 mitochondrial dna depletion syndrome 4a 11.1
34 tumefactive multiple sclerosis 11.1
35 glioma susceptibility 1 11.0
36 moyamoya disease 1 11.0
37 spinal cancer 11.0
38 soft tissue sarcoma 11.0
39 brain and spinal tumors 11.0
40 pelizaeus-merzbacher disease 10.9
41 adult hepatocellular carcinoma 10.6 TSC1 TSC2
42 epilepsy 10.6
43 focal cortical dysplasia, type ii 10.6 MTOR TSC1 TSC2
44 kidney benign neoplasm 10.6 MTOR TSC1 TSC2
45 hydromyelia 10.6 S100B VIM
46 intracranial cysts 10.5 GFAP S100B
47 desmoplastic infantile ganglioglioma 10.5 GFAP SYP
48 extraventricular neurocytoma 10.5 GFAP SYP
49 adrenal gland pheochromocytoma 10.5 AKT1 MTOR
50 gliofibroma 10.5 GFAP NF1

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



Diseases related to Tuberous Sclerosis

Symptoms & Phenotypes for Tuberous Sclerosis

UMLS symptoms related to Tuberous Sclerosis:


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

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

25 (show all 43)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.3 MTOR
2 Decreased viability GR00221-A-1 10.3 RPS6KA1 RPS6KB1 NF1 RHEB MTOR AKT1
3 Decreased viability GR00221-A-2 10.3 RPS6KA1 NF1 AKT1
4 Decreased viability GR00221-A-3 10.3 RPS6KA1 AKT1
5 Decreased viability GR00221-A-4 10.3 RPS6KA1 NF1 MTOR AKT1
6 Decreased viability GR00301-A 10.3 RPS6KA1 RPS6KB1
7 Decreased viability GR00342-S-1 10.3 RPS6KA1 MTOR
8 Decreased viability GR00342-S-2 10.3 MTOR
9 Decreased viability GR00381-A-1 10.3 RPS6KB1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.12 S100B
11 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.12 VIM MTOR RHEB
12 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.12 RHEB MTOR
13 Increased shRNA abundance (Z-score > 2) GR00366-A-127 10.12 TSC1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-133 10.12 RPS6KA1 DBH
15 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.12 RPS6KA1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.12 VIM
17 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.12 DBH
18 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.12 RHEB MTOR AKT1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.12 VIM
20 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.12 VIM AKT1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10.12 VIM RPS6KB1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.12 VIM
23 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.12 RPS6KB1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.12 RPS6KA1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.12 RPS6KB1 DBH
26 Increased shRNA abundance (Z-score > 2) GR00366-A-24 10.12 RPS6KA1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.12 VIM
28 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.12 VIM
29 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.12 RHEB TSC1 MTOR AKT1 DBH
30 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.12 RPS6KB1 AKT1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.12 RHEB
32 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.12 VIM S100B RHEB
33 Increased shRNA abundance (Z-score > 2) GR00366-A-70 10.12 AKT1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.12 MTOR
35 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10.12 AKT1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.12 TSC1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.12 S100B VIM RPS6KA1 RPS6KB1 AKT1 MTOR
38 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.12 RPS6KA1
39 Decreased cell migration GR00055-A-1 9.87 TSC1 RPS6KA1 VIM NF1 PKD1 MTOR
40 Decreased viability with paclitaxel GR00179-A-1 9.55 RPS6KB1 MTOR
41 Decreased viability with paclitaxel GR00179-A-2 9.55 MTOR
42 Decreased viability with paclitaxel GR00179-A-3 9.55 RPS6KB1 MTOR
43 Increased cell migration GR00055-A-3 9.26 RPS6KA1 MTOR NF1 PKD1

MGI Mouse Phenotypes related to Tuberous Sclerosis:

43 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.29 RPS6KB1 PKD1 RAP1A TSC1 RHEB TSC2
2 behavior/neurological MP:0005386 10.27 NF1 S100B SYP RAP1A TSC1 AKT1
3 cellular MP:0005384 10.27 RPS6 RPS6KB1 PKD1 RAP1A TSC1 RHEB
4 homeostasis/metabolism MP:0005376 10.17 RPS6 RPS6KB1 PKD1 S100B TSC1 RHEB
5 growth/size/body region MP:0005378 10.15 NF1 RPS6KB1 PKD1 TSC1 RHEB GFAP
6 mortality/aging MP:0010768 10.1 RPS6KB1 PKD1 RAP1A TSC1 RHEB AKT1
7 embryo MP:0005380 10.09 NF1 RPS6KB1 PKD1 TSC1 RHEB AKT1
8 endocrine/exocrine gland MP:0005379 10.06 RPS6 NF1 RPS6KB1 PKD1 TSC1 AKT1
9 muscle MP:0005369 9.85 RPS6KB1 PKD1 TSC1 RHEB MTOR VIM
10 nervous system MP:0003631 9.77 PKD1 SYP RAP1A TSC1 RHEB MTOR
11 normal MP:0002873 9.32 PKD1 S100B SYP RHEB AKT1 GFAP

Drugs & Therapeutics for Tuberous Sclerosis

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

(show top 50) (show all 90)
# 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 46835353 6436030 5284616
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
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 5280453 134070
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
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
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 Pharmaceutical Solutions Phase 3,Phase 2
46 Antioxidants Phase 3,Phase 1
47 Central Nervous System Depressants Phase 3,Phase 1
48
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
49
Metformin Approved Phase 2 657-24-9 4091 14219
50
Octreotide Approved, Investigational Phase 2 83150-76-9 6400441 383414

Interventional clinical trials:

(show top 50) (show all 67)

# 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 Sabril for Complex Partial Seizures in Adult Tolerability Study (TS) Patients Terminated NCT01266291 Phase 4 vigabatrin
5 Long-term Trial of Topical Sirolimus to Angiofibroma in Patient With Tuberous Sclerosis Complex Unknown status NCT02634931 Phase 3 NPC-12G gel
6 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
7 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
8 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
9 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
10 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
11 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
12 Topical Rapamycin and Calcitriol for Angiofibroma of Tuberous Sclerosis Completed NCT03140449 Phase 3 Rapamycin;Calcitriol;Rapamycin-calcitriol combination
13 A Randomized Controlled Trial of Cannabidiol (GWP42003-P, CBD) for Seizures in Tuberous Sclerosis Complex (GWPCARE6) Recruiting NCT02544763 Phase 3 GWP42003-P;Placebo
14 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
15 Efficacy and Safety of Circadin® in the Treatment of Sleep Disturbances in Children With Neurodevelopment Disabilities Active, not recruiting NCT01906866 Phase 3 Circadin 2/5/10 mg;Placebo
16 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
17 Topical Everolimus in Patients With Tuberous Sclerosis Complex Not yet recruiting NCT02860494 Phase 2, Phase 3 Everolimus;Placebo
18 Trial of Efficacy and Safety of Sirolimus in Tuberous Sclerosis and LAM Unknown status NCT00490789 Phase 2 sirolimus
19 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
20 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
21 Sirolimus in Treating Patients With Angiomyolipoma of the Kidney Unknown status NCT00126672 Phase 2 sirolimus
22 Rapamycin Therapy for Patients With Tuberous Sclerosis Complex and Sporadic LAM Completed NCT00457808 Phase 2 Rapamycin, sirolimus
23 Trial of RAD001 and Neurocognition in Tuberous Sclerosis Complex (TSC) Completed NCT01289912 Phase 2 RAD001;Placebo
24 Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers Completed NCT02104011 Phase 2 Propranolol
25 Everolimus (RAD001) Therapy for Epilepsy in Patients With Tuberous Sclerosis Complex (TSC) Completed NCT01070316 Phase 1, Phase 2 Everolimus
26 Everolimus (RAD001) Therapy of Giant Cell Astrocytoma in Patients With Tuberous Sclerosis Complex Completed NCT00411619 Phase 1, Phase 2 Everolimus
27 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)
28 RAD001 Therapy of Angiomyolipomata in Patients With TS Complex and Sporadic LAM Completed NCT00457964 Phase 1, Phase 2 RAD001
29 Topical Rapamycin to Erase Angiofibromas in TSC Completed NCT01526356 Phase 2 Placebo;Rapamycin;Rapamycin
30 Rapalogues for Autism Phenotype in TSC: A Feasibility Study Completed NCT01929642 Phase 2 Sirolimus;Everolimus
31 Preventing Epilepsy Using Vigabatrin In Infants With Tuberous Sclerosis Complex Recruiting NCT02849457 Phase 2 Vigabatrin;Placebo
32 Aspirin as an add-on Treatment of Refractory Epilepsy in Tuberous Sclerosis Complex Recruiting NCT03356769 Phase 2 Aspirin;AED;Placebo
33 Safety of Simvastatin in LAM and TSC Recruiting NCT02061397 Phase 1, Phase 2 Simvastatin
34 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
35 Everolimus for Cancer With TSC1 or TSC2 Mutation Recruiting NCT02201212 Phase 2 Everolimus
36 Sapanisertib in Treating Patients With Locally Advanced or Metastatic Bladder Cancer With TSC1 and/or TSC2 Mutations Recruiting NCT03047213 Phase 2 Sapanisertib
37 A Study of Everolimus in the Treatment of Neurocognitive Problems in Tuberous Sclerosis Active, not recruiting NCT01954693 Phase 2 Placebo;Everolimus (RAD001)
38 Topical Sirolimus Ointment for Cutaneous Angiofibromas in Subjects With Tuberous Sclerosis Complex Not yet recruiting NCT03363763 Phase 2 Sirolimus 0.2%;Sirolimus 0.4%;Placebo ointment
39 A Phase II Study of Orally Administered BEZ235 Monotherapy in Patients With Metastatic or Unresectable Malignant PEComa Withdrawn NCT01690871 Phase 2 BEZ235
40 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
41 Tuberous Sclerosis Complex: Facial Angiofibroma Skin Cream Completed NCT01853423 Phase 1 Rapamune
42 Assessment of the Pharmacokinetics of Circadin® in Children With Neurodevelopmental Disorders and Sleep Disturbances Completed NCT01903681 Phase 1 Circadin 2 mg;Circadin 10 mg
43 Early Behavioral Intervention to Improve Social Communication Function in Infants With Tuberous Sclerosis Complex Unknown status NCT02687633
44 The Cognitive Variability in NF1 and TSC Monozygotic Twins Unknown status NCT02436746
45 Tuberous Sclerosis Complex Natural History Study: Renal Manifestations Completed NCT00598455
46 Effect of Fasting on the Size of Abdominal Lymphatic Tumors in Women Completed NCT00552955
47 Evaluation of New Biomarkers Predictive of Efficacy Betablockers in PEComa and Vascular Pediatric Tumors Completed NCT02334930
48 Official Record of Patients Diagnosed With Lymphangioleiomyomatosis (LAM) Completed NCT00001869
49 Genetic Heterogeneity and Genotype-phenotype Correlation of Children and Adults With Tuberous Sclerosis Complex Recruiting NCT02654340
50 JASPER Early Intervention for Tuberous Sclerosis Recruiting NCT03422367

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

MalaCards organs/tissues related to Tuberous Sclerosis:

38
Skin, Kidney, Brain, Heart, Lung, Eye, Liver

Publications for Tuberous Sclerosis

Articles related to Tuberous Sclerosis:

(show top 50) (show all 1458)
# Title Authors Year
1
Clinical Course of Histologically Proven Multifocal Micronodular Pneumocyte Hyperplasia in Tuberous Sclerosis Complex: A Case Series and Comparison with Lymphangiomyomatosis. ( 29393256 )
2018
2
Renal manifestations of tuberous sclerosis complex: patients' and parents' knowledge and routines for renal follow-up - a questionnaire study. ( 29439672 )
2018
3
Tuberous sclerosis complex-associated CNS abnormalities depend on hyperactivation of mTORC1 and Akt. ( 29389670 )
2018
4
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
5
Chronic papilledema in a child with classical tuberous sclerosis. ( 29283138 )
2018
6
Spontaneous reduction of native kidney size involving angiomyolipoma lesions in a kidney transplant recipient with tuberous sclerosis complex. ( 29417638 )
2018
7
Deep phenotyping of patients with tuberous sclerosis complex and no mutation identified in Tsc1 and Tsc2. ( 29432982 )
2018
8
Tuberous sclerosis complex with Best's vitelliform macular dystrophy: A combined presentation. ( 29380781 )
2018
9
Persistence of self-injury, aggression and property destruction in children and adults with tuberous sclerosis complex. ( 29417652 )
2018
10
Sclerotic bone lesions as a potential imaging biomarker for the diagnosis of tuberous sclerosis complex. ( 29343816 )
2018
11
Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures? ( 29378663 )
2018
12
mTOR dysregulation and tuberous sclerosis-related epilepsy. ( 29338461 )
2018
13
Retrospective study: Rapamycin or rapalog 0.1% cream for facial angiofibromas in Tuberous Sclerosis Complex: Evaluation of treatment effectiveness and cost. ( 29380350 )
2018
14
The effect of everolimus on renal angiomyolipoma in pediatric patients with tuberous sclerosis being treated for subependymal giant cell astrocytoma. ( 28993887 )
2018
15
Corrigendum to "Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex" [Mol. Genet. Metab. 120(4) (Apr 2017) 384-391]. ( 29325814 )
2018
16
Tuberous Sclerosis Complex and Diffuse Lipomatosis: Case Report of a Rare Association. ( 29441296 )
2018
17
Decreased rates of cerebral protein synthesis measured in vivo in a mouse model of Tuberous Sclerosis Complex: unexpected consequences of reduced tuberin. ( 29364507 )
2018
18
Maternal and Fetal Tuberous Sclerosis: Do We Know Enough as an Obstetrician? ( 28868251 )
2017
19
[Clinical and genetic study patients with tuberous sclerosis complex]. ( 28288225 )
2017
20
Cortical blindness as severe neuro-ophthalmological manifestation of tuberous sclerosis complex. ( 28435768 )
2017
21
Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex. ( 28127866 )
2017
22
Clinical and genetic analysis of tuberous sclerosis complex-associated renal angiomyolipoma in Chinese pedigrees. ( 29344138 )
2017
23
Unique findings of subependymal giant cell astrocytoma within cortical tubers in patients with tuberous sclerosis complex: a histopathological evaluation. ( 28074282 )
2017
24
Bumetanide As a Candidate Treatment for Behavioral Problems in Tuberous Sclerosis Complex. ( 28943860 )
2017
25
Multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis complex: A case report without lymphangioleiomyomatosis association. ( 28550981 )
2017
26
Multimodal Imaging of Astrocytic Hamartomas Associated With Tuberous Sclerosis. ( 28902337 )
2017
27
Management of a Rare Disease Population: A Model for Identifying a Patient Population With Tuberous Sclerosis Complex. ( 28895825 )
2017
28
Utility of the Autism Observation Scale for Infants in Early Identification of Autism in Tuberous Sclerosis Complex. ( 28844798 )
2017
29
Early autism symptoms in infants with tuberous sclerosis complex. ( 28801991 )
2017
30
Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis. ( 28968464 )
2017
31
Chordoma Occurs in Young Children With Tuberous Sclerosis. ( 28498973 )
2017
32
Renal Cell Carcinoma with Angioleiomyoma-Like Stroma and Clear Cell Papillary Renal Cell Carcinoma: Exploring SDHB Protein Immunohistochemistry and the Relationship to Tuberous Sclerosis Complex. ( 29180251 )
2017
33
Implementing a Multidisciplinary Approach to Treating Tuberous Sclerosis Complex: A Case Report. ( 28856172 )
2017
34
Retinal astrocytoma regression in tuberous sclerosis patients treated with everolimus. ( 29277498 )
2017
35
Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex. ( 27859028 )
2017
36
Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment. ( 28808237 )
2017
37
Pleuroperitoneal Denver shunt insertion for the treatment of refractory chylothorax in a patient with tuberous sclerosis complex and lymphangioleiomyomatosis. ( 29224204 )
2017
38
Novel Inflammatory Neuropathology in Immature Brain: (1) Fetal Tuberous Sclerosis, (2) Febrile Seizures, (3) I+-B-crystallin, and (4) Role of Astrocytes. ( 29103422 )
2017
39
TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex. ( 28211972 )
2017
40
Ictal and interictal MEG in pediatric patients with tuberous sclerosis and drug resistant epilepsy. ( 29367178 )
2017
41
Everolimus for the Treatment of Tuberous Sclerosis Complex-Related Cardiac Rhabdomyomas in Pediatric Patients. ( 28888564 )
2017
42
Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex. ( 28336152 )
2017
43
Tuberous Sclerosis Complex: Unusual Presentation in an Adult Patient. ( 28859751 )
2017
44
Hyperactivated mTORC1 downregulation of FOXO3a/PDGFRI+/AKT cascade restrains tuberous sclerosis complex-associated tumor development. ( 28903387 )
2017
45
Tuberous sclerosis: Inside and outside. ( 28790792 )
2017
46
Efficacy of Everolimus for Treating Renal Angiomyolipoma with Inferior Vena Cava Thrombus Associated with Tuberous Sclerosis: A Case Report. ( 28083476 )
2017
47
Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China. ( 28065512 )
2017
48
Insulinoma and Tuberous Sclerosis: A Possible Mechanistic Target of Rapamycin (mTOR) Pathway Abnormality? ( 29264566 )
2017
49
Combination of Multiple Ligation-Dependent Probe Amplification and Illumina MiSeq Amplicon Sequencing for TSC1/TSC2 Gene Analyses in Patients with Tuberous Sclerosis Complex. ( 28087349 )
2017
50
Cerebellar lesions are associated with TSC2 mutations in tuberous sclerosis complex: a retrospective record review study. ( 28786492 )
2017

Variations for Tuberous Sclerosis

ClinVar genetic disease variations for Tuberous Sclerosis:

6 (show top 50) (show all 212)
# Gene Variation Type Significance SNP ID Assembly Location
1 TSC2 NM_000548.4(TSC2): c.4642delC (p.Leu1548Cysfs) deletion Pathogenic rs137854083 GRCh37 Chromosome 16, 2135303: 2135303
2 TSC2 NM_000548.4(TSC2): c.5024C> T (p.Pro1675Leu) single nucleotide variant Pathogenic rs45483392 GRCh37 Chromosome 16, 2137898: 2137898
3 TSC2 NM_000548.4(TSC2): c.34A> T (p.Lys12Ter) single nucleotide variant Pathogenic rs45512692 GRCh37 Chromosome 16, 2098650: 2098650
4 TSC2 NM_000548.4(TSC2): c.2056_2059dupTACT (p.Ser687Leufs) duplication Pathogenic rs137854337 GRCh37 Chromosome 16, 2121894: 2121897
5 TSC2 NM_000548.4(TSC2): c.1513C> T (p.Arg505Ter) single nucleotide variant Pathogenic rs45517179 GRCh37 Chromosome 16, 2114342: 2114342
6 TSC2 NM_000548.4(TSC2): c.1832G> A (p.Arg611Gln) single nucleotide variant Pathogenic rs28934872 GRCh37 Chromosome 16, 2120572: 2120572
7 TSC2 NM_000548.4(TSC2): c.2150T> G (p.Leu717Arg) single nucleotide variant Pathogenic rs45517214 GRCh37 Chromosome 16, 2122294: 2122294
8 TSC2 NM_000548.4(TSC2): c.1432C> T (p.Gln478Ter) single nucleotide variant Pathogenic rs121964862 GRCh37 Chromosome 16, 2113043: 2113043
9 TSC2 NM_000548.4(TSC2): c.1096G> T (p.Glu366Ter) single nucleotide variant Pathogenic rs45517148 GRCh37 Chromosome 16, 2110791: 2110791
10 TSC2 NM_000548.4(TSC2): c.5238_5255del18 (p.His1746_Arg1751del) deletion Pathogenic rs137854218 GRCh37 Chromosome 16, 2138305: 2138322
11 TSC2 NM_000548.4(TSC2): c.2714G> A (p.Arg905Gln) single nucleotide variant Pathogenic rs45517259 GRCh37 Chromosome 16, 2126143: 2126143
12 TSC2 NM_000548.4(TSC2): c.2713C> T (p.Arg905Trp) single nucleotide variant Pathogenic rs45517258 GRCh37 Chromosome 16, 2126142: 2126142
13 TSC2 NM_000548.4(TSC2): c.2713C> G (p.Arg905Gly) single nucleotide variant Pathogenic rs45517258 GRCh37 Chromosome 16, 2126142: 2126142
14 TSC2 NM_000548.4(TSC2): c.2355+2_2355+5delTAGG deletion Pathogenic rs137854250 GRCh37 Chromosome 16, 2122986: 2122989
15 TSC2 NM_000548.4(TSC2): c.1322G> A (p.Trp441Ter) single nucleotide variant Pathogenic rs45515894 GRCh37 Chromosome 16, 2112562: 2112562
16 TSC1 NM_000368.4(TSC1): c.1152delA (p.Gly385Glufs) deletion Pathogenic rs118203501 GRCh37 Chromosome 9, 135786069: 135786069
17 TSC1 NM_000368.4(TSC1): c.1257delC (p.Arg420Glyfs) deletion Pathogenic rs118203506 GRCh37 Chromosome 9, 135785964: 135785964
18 TSC1 NM_000368.4(TSC1): c.1431_1434delAGAA (p.Glu478Lysfs) deletion Pathogenic rs118203527 GRCh37 Chromosome 9, 135782122: 135782125
19 TSC1 NM_000368.4(TSC1): c.1498C> T (p.Arg500Ter) single nucleotide variant Pathogenic rs118203537 GRCh37 Chromosome 9, 135781467: 135781467
20 TSC1 NM_000368.4(TSC1): c.1525C> T (p.Arg509Ter) single nucleotide variant Pathogenic rs118203542 GRCh37 Chromosome 9, 135781440: 135781440
21 TSC1 NM_000368.4(TSC1): c.1580_1581delAG (p.Gln527Argfs) deletion Pathogenic rs118203550 GRCh37 Chromosome 9, 135781384: 135781385
22 TSC1 NM_000368.4(TSC1): c.1697delC (p.Pro566Leufs) deletion Pathogenic rs118203563 GRCh37 Chromosome 9, 135781268: 135781268
23 TSC1 NM_000368.4(TSC1): c.1708_1709delAG (p.Arg570Glyfs) deletion Pathogenic rs118203564 GRCh37 Chromosome 9, 135781256: 135781257
24 TSC1 NM_000368.4(TSC1): c.1959dupA (p.Gln654Thrfs) duplication Pathogenic rs118203603 GRCh37 Chromosome 9, 135781006: 135781006
25 TSC1 NM_000368.4(TSC1): c.1963C> T (p.Gln655Ter) single nucleotide variant Pathogenic rs118203606 GRCh37 Chromosome 9, 135781002: 135781002
26 TSC1 NM_000368.4(TSC1): c.1997+1G> A single nucleotide variant Pathogenic rs118203610 GRCh37 Chromosome 9, 135780967: 135780967
27 TSC1 NM_000368.4(TSC1): c.2023delG (p.Asp675Thrfs) deletion Pathogenic rs118203620 GRCh37 Chromosome 9, 135779816: 135779816
28 TSC1 NM_000368.4(TSC1): c.2074C> T (p.Arg692Ter) single nucleotide variant Pathogenic rs118203631 GRCh37 Chromosome 9, 135779172: 135779172
29 TSC1 NM_000368.4(TSC1): c.211-2A> C single nucleotide variant Pathogenic rs118203352 GRCh37 Chromosome 9, 135801128: 135801128
30 TSC1 NM_000368.4(TSC1): c.2111_2112delAT (p.Tyr704Terfs) deletion Pathogenic rs118203645 GRCh37 Chromosome 9, 135779134: 135779135
31 TSC1 NM_000368.4(TSC1): c.2227C> T (p.Gln743Ter) single nucleotide variant Pathogenic rs118203661 GRCh37 Chromosome 9, 135778156: 135778156
32 TSC1 NM_000368.4(TSC1): c.2283C> A (p.Tyr761Ter) single nucleotide variant Pathogenic rs118203668 GRCh37 Chromosome 9, 135778100: 135778100
33 TSC1 NM_000368.4(TSC1): c.2293C> T (p.Gln765Ter) single nucleotide variant Pathogenic rs118203673 GRCh37 Chromosome 9, 135778090: 135778090
34 TSC1 NM_000368.4(TSC1): c.2341C> T (p.Gln781Ter) single nucleotide variant Pathogenic rs118203680 GRCh37 Chromosome 9, 135778042: 135778042
35 TSC1 NM_000368.4(TSC1): c.2356C> T (p.Arg786Ter) single nucleotide variant Pathogenic rs118203682 GRCh37 Chromosome 9, 135778027: 135778027
36 TSC1 NM_000368.4(TSC1): c.2401G> T (p.Glu801Ter) single nucleotide variant Pathogenic rs118203687 GRCh37 Chromosome 9, 135777077: 135777077
37 TSC1 NM_000368.3(TSC1): c.2509_2512delAACA (p.Asn837Valfs) deletion Pathogenic rs118203707 GRCh37 Chromosome 9, 135776215: 135776218
38 TSC1 NM_000368.4(TSC1): c.2510dupA (p.Asn837Lysfs) duplication Pathogenic rs118203709 GRCh37 Chromosome 9, 135776217: 135776217
39 TSC1 NM_000368.4(TSC1): c.2569delG (p.Glu857Argfs) deletion Pathogenic rs118203712 GRCh37 Chromosome 9, 135776158: 135776158
40 TSC1 NM_000368.4(TSC1): c.2672dupA (p.Asn891Lysfs) duplication Pathogenic rs118203724 GRCh37 Chromosome 9, 135772951: 135772951
41 TSC1 NM_000368.4(TSC1): c.2689C> T (p.Gln897Ter) single nucleotide variant Pathogenic rs118203727 GRCh37 Chromosome 9, 135772934: 135772934
42 TSC1 NM_000368.4(TSC1): c.2692C> T (p.Gln898Ter) single nucleotide variant Pathogenic rs118203728 GRCh37 Chromosome 9, 135772931: 135772931
43 TSC1 NM_000368.4(TSC1): c.271_272delTC (p.Ser91Valfs) deletion Pathogenic rs118203360 GRCh37 Chromosome 9, 135801065: 135801066
44 TSC1 NM_000368.4(TSC1): c.395_406delGCGTCTTGGTGTinsCA (p.Gly132Alafs) indel Pathogenic rs118203380 GRCh37 Chromosome 9, 135798837: 135798848
45 TSC1 NM_000368.4(TSC1): c.445C> T (p.Gln149Ter) single nucleotide variant Pathogenic rs118203384 GRCh37 Chromosome 9, 135798798: 135798798
46 TSC1 NM_000368.4(TSC1): c.491G> A (p.Trp164Ter) single nucleotide variant Pathogenic rs118203387 GRCh37 Chromosome 9, 135798752: 135798752
47 TSC1 NM_000368.4(TSC1): c.664-1G> A single nucleotide variant Pathogenic rs118203423 GRCh37 Chromosome 9, 135796824: 135796824
48 TSC1 NM_000368.4(TSC1): c.664-1G> C single nucleotide variant Pathogenic rs118203423 GRCh37 Chromosome 9, 135796824: 135796824
49 TSC1 NM_000368.4(TSC1): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs118203427 GRCh37 Chromosome 9, 135796805: 135796805
50 TSC1 NM_000368.4(TSC1): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs118203434 GRCh37 Chromosome 9, 135796754: 135796754

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 74)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.25 AKT1 EIF4EBP1 GFAP MTOR NF1 RAP1A
2
Show member pathways
13.89 AKT1 CCL26 MTOR NF1 RAP1A RHEB
3
Show member pathways
13.61 AKT1 CCL26 DCX EIF4EBP1 MTOR RAP1A
4
Show member pathways
13.16 AKT1 EIF4EBP1 MTOR NF1 RHEB RPS6
5
Show member pathways
13.15 AKT1 EIF4EBP1 MTOR RHEB RPS6 RPS6KA1
6
Show member pathways
13.08 AKT1 EIF4EBP1 MTOR RHEB RPS6 RPS6KB1
7
Show member pathways
12.99 AKT1 EIF4EBP1 MTOR RHEB RPS6 RPS6KA1
8
Show member pathways
12.86 AKT1 MTOR RAP1A RPS6 RPS6KA1 RPS6KB1
9
Show member pathways
12.84 AKT1 EIF4EBP1 MTOR RPS6 RPS6KB1
10
Show member pathways
12.76 AKT1 EIF4EBP1 MTOR RAP1A RPS6KA1
11
Show member pathways
12.76 AKT1 MTOR RAP1A RHEB RPS6KB1 TSC2
12 12.69 DBH DCX GFAP NF1 S100B SYP
13
Show member pathways
12.62 AKT1 EIF4EBP1 MTOR RHEB RPS6KA1 RPS6KB1
14
Show member pathways
12.59 AKT1 EIF4EBP1 MTOR RPS6 RPS6KA1 RPS6KB1
15
Show member pathways
12.56 AKT1 EIF4EBP1 MTOR RAP1A RPS6KB1
16
Show member pathways
12.51 AKT1 EIF4EBP1 MTOR RHEB RPS6KB1 TSC1
17
Show member pathways
12.47 AKT1 EIF4EBP1 MTOR RHEB RPS6 RPS6KA1
18
Show member pathways
12.43 AKT1 EIF4EBP1 MTOR RPS6KA1 RPS6KB1
19
Show member pathways
12.43 AKT1 EIF4EBP1 MTOR RHEB RPS6 RPS6KB1
20
Show member pathways
12.42 AKT1 EIF4EBP1 MTOR RHEB RPS6 RPS6KA1
21 12.4 EIF4EBP1 MTOR RPS6 RPS6KB1 TSC1 TSC2
22
Show member pathways
12.4 AKT1 EIF4EBP1 MTOR RPS6 RPS6KB1 TSC1
23
Show member pathways
12.39 AKT1 EIF4EBP1 MTOR RAP1A
24
Show member pathways
12.36 AKT1 MTOR RAP1A RPS6KB1
25
Show member pathways
12.36 AKT1 EIF4EBP1 MTOR RHEB RPS6 RPS6KA1
26 12.35 AKT1 MTOR RPS6 RPS6KB1
27
Show member pathways
12.34 AKT1 EIF4EBP1 MTOR RPS6KB1 TSC1 TSC2
28
Show member pathways
12.31 AKT1 EIF4EBP1 MTOR RHEB RPS6 RPS6KB1
29
Show member pathways
12.3 AKT1 MTOR RAP1A RPS6
30 12.3 AKT1 EIF4EBP1 MTOR RAP1A RPS6KA1 RPS6KB1
31 12.29 AKT1 EIF4EBP1 MTOR RHEB TSC1 TSC2
32
Show member pathways
12.24 AKT1 RPS6 RPS6KA1 RPS6KB1
33
Show member pathways
12.24 AKT1 MTOR RHEB RPS6KA1
34
Show member pathways
12.24 AKT1 MTOR RHEB RPS6KB1 TSC2
35
Show member pathways
12.23 AKT1 EIF4EBP1 MTOR RPS6KB1 TSC2
36 12.23 AKT1 MTOR NF1 RAP1A RHEB TSC1
37
Show member pathways
12.2 MTOR RHEB TSC1 TSC2
38
Show member pathways
12.2 AKT1 EIF4EBP1 MTOR RHEB RPS6KB1 TSC1
39 12.18 AKT1 MTOR RHEB TSC1 TSC2
40
Show member pathways
12.17 AKT1 EIF4EBP1 MTOR RPS6KA1 RPS6KB1
41 12.17 AKT1 MTOR RHEB RPS6KB1 TSC1 TSC2
42 12.16 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 12.08 AKT1 MTOR RHEB TSC2
47 12.08 AKT1 MTOR NF1 RPS6KB1 TSC1 TSC2
48
Show member pathways
12.04 AKT1 MTOR RPS6KA1 RPS6KB1
49 12.04 AKT1 EIF4EBP1 MTOR RPS6 RPS6KB1
50 12 AKT1 RHEB TBC1D7 TSC1 TSC2

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 GFAP MTOR NF1
2 perinuclear region of cytoplasm GO:0048471 9.8 RAP1A RPS6 RPS6KB1 S100B TSC1 TSC2
3 neuron projection GO:0043005 9.65 DCX RAP1A RPS6KB1 SYP VIM
4 cytosol GO:0005829 9.5 AKT1 DCX EIF4EBP1 GFAP MTOR NF1
5 TSC1-TSC2 complex GO:0033596 9.16 TSC1 TSC2

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.95 CCL26 NF1 RAP1A TBC1D7 TSC2
2 regulation of translation GO:0006417 9.83 AKT1 EIF4EBP1 RPS6KB1 TSC1
3 cellular response to organic cyclic compound GO:0071407 9.8 AKT1 RAP1A RPS6KB1
4 response to insulin GO:0032868 9.79 MTOR RPS6KB1 TSC1
5 positive regulation of translation GO:0045727 9.78 MTOR RPS6KB1 VIM
6 negative regulation of neuron projection development GO:0010977 9.77 GFAP TSC1 VIM
7 positive regulation of smooth muscle cell proliferation GO:0048661 9.76 AKT1 MTOR RPS6KB1
8 visual learning GO:0008542 9.73 DBH MTOR NF1
9 cell cycle arrest GO:0007050 9.72 MTOR PKD1 RHEB TSC1 TSC2
10 protein kinase B signaling GO:0043491 9.71 AKT1 RPS6KB1 TSC2
11 positive regulation of endothelial cell proliferation GO:0001938 9.71 AKT1 CCL26 MTOR NF1
12 germ cell development GO:0007281 9.67 AKT1 MTOR RPS6KB1
13 insulin-like growth factor receptor signaling pathway GO:0048009 9.64 AKT1 TSC2
14 regulation of cell-matrix adhesion GO:0001952 9.64 NF1 TSC1
15 positive regulation of lipid biosynthetic process GO:0046889 9.63 AKT1 MTOR
16 positive regulation of glial cell proliferation GO:0060252 9.63 GFAP MTOR
17 negative regulation of TOR signaling GO:0032007 9.63 TBC1D7 TSC1 TSC2
18 response to fluid shear stress GO:0034405 9.61 AKT1 PKD1
19 negative regulation of insulin receptor signaling pathway GO:0046627 9.61 RPS6KB1 TSC1 TSC2
20 Bergmann glial cell differentiation GO:0060020 9.6 GFAP VIM
21 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.58 AKT1 PKD1
22 regulation of glycogen biosynthetic process GO:0005979 9.57 AKT1 MTOR
23 negative regulation of macroautophagy GO:0016242 9.54 AKT1 MTOR TSC1
24 activation-induced cell death of T cells GO:0006924 9.51 AKT1 RPS6
25 intermediate filament-based process GO:0045103 9.48 GFAP VIM
26 anoikis GO:0043276 9.43 AKT1 MTOR TSC2
27 negative regulation of cell size GO:0045792 9.33 AKT1 MTOR TSC1
28 spinal cord development GO:0021510 9.26 AKT1 MTOR NF1 PKD1
29 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 identical protein binding GO:0042802 9.7 AKT1 GFAP MTOR RPS6KB1 S100B SYP
2 GTPase activating protein binding GO:0032794 9.32 AKT1 TSC1
3 protein serine/threonine/tyrosine kinase activity GO:0004712 9.13 AKT1 RPS6KA1 RPS6KB1
4 protein kinase binding GO:0019901 9.1 AKT1 DCX MTOR PKD1 RHEB RPS6
5 protein binding GO:0005515 10.19 AKT1 DCX EIF4EBP1 GFAP MTOR NF1

Sources for Tuberous Sclerosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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