MCID: TBR001
MIFTS: 69

Tuberous Sclerosis

Categories: Cancer diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Tuberous Sclerosis

MalaCards integrated aliases for Tuberous Sclerosis:

Name: Tuberous Sclerosis 12 77 54 55 56 44 45 15 41 74
Tuberous Sclerosis Syndrome 12 30 6
Bourneville's Disease 12 77
Tuberous Sclerosis 1 54 74
Tuberous Sclerosis Complex 54
Tuberose Sclerosis 12
Cerebral Sclerosis 12
Epiloia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:13515
ICD9CM 36 759.5
MeSH 45 D014402
NCIt 51 C3424
SNOMED-CT 69 7199000
ICD10 34 Q85.1

Summaries for Tuberous Sclerosis

NINDS : 55 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 seizures, tremor and back pain. An important gene associated with Tuberous Sclerosis is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways are Signaling by GPCR and ERK Signaling. The drugs Miconazole and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include kidney, skin and brain, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 An autosomal dominant disease that is characterized by the growth of numerous noncancerous tumors in many parts of the body.

NIH Rare Diseases : 54 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 : 44 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 : 77 Tuberous sclerosis complex (TSC), is a rare multisystem genetic disease that causes non-cancerous... 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 405)
# Related Disease Score Top Affiliating Genes
1 tuberous sclerosis 1 34.9 CCL26 MTOR RHEB TSC1 TSC2
2 polycystic kidney disease, infantile severe, with tuberous sclerosis 34.8 PKD1 TSC2
3 tuberous sclerosis 2 34.7 MTOR NTHL1 PKD1 TSC1 TSC2
4 lymphangioleiomyomatosis 33.2 MTOR RPS6KB1 TSC1 TSC2
5 subependymal giant cell astrocytoma 32.7 GFAP MTOR SYP TSC1 TSC2
6 angiomyolipoma 31.8 CCL26 MTOR TSC1 TSC2
7 kidney angiomyolipoma 31.5 MTOR RHEB TSC1 TSC2
8 congenital heart defects, hamartomas of tongue, and polysyndactyly 31.4 CCL26 TSC1 TSC2
9 renal cell carcinoma, nonpapillary 31.1 MTOR TSC1 TSC2 VIM
10 hepatic angiomyolipoma 30.8 MTOR TSC2
11 autosomal dominant polycystic kidney disease 30.7 MTOR PKD1 TSC1 TSC2
12 megalencephaly 30.6 MTOR TBC1D7 TSC1
13 cystic kidney disease 30.4 CCL26 PKD1 TSC1 TSC2
14 perivascular epithelioid cell tumor 30.4 SYP TSC2 VIM
15 ganglioglioma 30.4 GFAP SYP TSC2
16 glioblastoma multiforme 30.3 AKT1 GFAP MTOR RPS6KB1
17 polycystic kidney disease 1 with or without polycystic liver disease 30.2 MTOR PKD1 TSC1 TSC2
18 subependymoma 30.2 GFAP SYP TSC2
19 ependymoma 30.2 GFAP SYP VIM
20 chordoid meningioma 30.1 GFAP SYP VIM
21 obstructive hydrocephalus 30.0 GFAP NF1 SYP
22 subependymal glioma 29.9 GFAP MTOR SYP TSC1 TSC2
23 benign ependymoma 29.9 GFAP MTOR SYP TSC1 TSC2
24 sudanophilic cerebral sclerosis 12.3
25 cerebral sclerosis similar to pelizaeus-merzbacher disease 12.2
26 cerebral sclerosis, diffuse, scholz type 12.1
27 adrenoleukodystrophy 11.8
28 metachromatic leukodystrophy 11.8
29 lennox-gastaut syndrome 11.6
30 tumefactive multiple sclerosis 11.6
31 hemimegalencephaly 11.5
32 insulinoma 11.5
33 neuroendocrine tumor 11.5
34 glioma susceptibility 1 11.5
35 moyamoya disease 1 11.5
36 renal oncocytoma 11.5
37 myelinoclastic diffuse sclerosis 11.4
38 mitochondrial dna depletion syndrome 4a 11.3
39 spinal cancer 11.2
40 autosomal dominant café au lait spots 11.2
41 pilocytic astrocytoma 11.2
42 soft tissue sarcoma 11.2
43 brain and spinal tumors 11.2
44 pelizaeus-merzbacher disease 11.1
45 balo concentric sclerosis 11.1
46 epilepsy 10.9
47 astrocytoma 10.7
48 autism 10.6
49 kidney disease 10.5
50 polycystic kidney disease 10.5

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



Diseases related to Tuberous Sclerosis

Symptoms & Phenotypes for Tuberous Sclerosis

UMLS symptoms related to Tuberous Sclerosis:


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

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

27 (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 MTOR NF1 RHEB 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 MTOR NF1 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 AKT1 MTOR NF1 RHEB RPS6KA1 RPS6KB1
11 Decreased cell migration GR00055-A-1 9.87 AKT1 MTOR NF1 PKD1 RPS6KA1 TSC1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.75 MTOR RHEB
13 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.75 MTOR RHEB
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 MTOR RHEB
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 MTOR RHEB 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:

47 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.32 AKT1 EIF4EBP1 GFAP MTOR NF1 NTHL1
2 cardiovascular system MP:0005385 10.31 AKT1 DBH EIF4EBP1 GFAP MTOR NF1
3 behavior/neurological MP:0005386 10.29 AKT1 DBH DCX GFAP MTOR NF1
4 homeostasis/metabolism MP:0005376 10.21 AKT1 DBH EIF4EBP1 GFAP MTOR NF1
5 growth/size/body region MP:0005378 10.18 AKT1 DBH DCX EIF4EBP1 GFAP MTOR
6 mortality/aging MP:0010768 10.17 AKT1 DBH DCX EIF4EBP1 GFAP MTOR
7 embryo MP:0005380 10.11 AKT1 MTOR NF1 PKD1 RHEB RPS6KB1
8 endocrine/exocrine gland MP:0005379 10.09 AKT1 DBH MTOR NF1 PKD1 RPS6
9 adipose tissue MP:0005375 10 AKT1 DBH EIF4EBP1 MTOR PKD1 RPS6KB1
10 muscle MP:0005369 9.96 AKT1 EIF4EBP1 GFAP MTOR NF1 PKD1
11 nervous system MP:0003631 9.77 AKT1 DBH DCX GFAP MTOR NF1
12 neoplasm MP:0002006 9.7 AKT1 NF1 NTHL1 PKD1 RPS6KB1 TSC1
13 normal MP:0002873 9.28 AKT1 DBH GFAP MTOR NF1 PKD1

Drugs & Therapeutics for Tuberous Sclerosis

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

(show top 50) (show all 129)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 22916-47-8 4189
2
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 53123-88-9 46835353 6436030 5284616
3
Everolimus Approved Phase 4,Phase 2,Phase 3,Phase 1 159351-69-6 6442177 70789204
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 2,Phase 3,Phase 1
7 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
8 Immunosuppressive Agents Phase 4,Phase 2,Phase 3,Phase 1
9 Immunologic Factors Phase 4,Phase 2,Phase 3,Phase 1
10 Antibiotics, Antitubercular Phase 4,Phase 2,Phase 3,Phase 1
11 Antifungal Agents Phase 4,Phase 2,Phase 3,Phase 1
12 Anticonvulsants Phase 4,Phase 3,Phase 2,Not Applicable
13 Antiprotozoal Agents Phase 4
14 Antiparasitic Agents Phase 4
15 Antimalarials Phase 4
16 Neurotransmitter Agents Phase 4,Phase 2
17 GABA Agents Phase 4,Phase 2
18
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
19
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
20
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
21
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
22
Phenobarbital Approved, Investigational Phase 3 50-06-6 4763
23
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
24
Carbamazepine Approved, Investigational Phase 3 298-46-4 2554
25
Phenytoin Approved, Vet_approved Phase 3 57-41-0 1775
26
Clonazepam Approved, Illicit Phase 3 1622-61-3 2802
27
Topiramate Approved Phase 3 97240-79-4 5284627
28
Clobazam Approved, Illicit Phase 3 22316-47-8 2789
29
Ethanol Approved Phase 3 64-17-5 702
30 Strawberry Approved Phase 3
31
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 134070 5280453
32
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
33
Melatonin Approved, Nutraceutical, Vet_approved Phase 3,Phase 1 73-31-4 896
34
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
35 Anti-Inflammatory Agents Phase 3,Phase 2
36 Peripheral Nervous System Agents Phase 3,Phase 2
37 Prednisolone acetate Phase 3
38 Autonomic Agents Phase 3
39 Hormones Phase 3,Phase 2
40 Hormone Antagonists Phase 3,Phase 2
41 Antiemetics Phase 3
42 Methylprednisolone Acetate Phase 3
43 Neuroprotective Agents Phase 3
44 Gastrointestinal Agents Phase 3,Phase 2
45 glucocorticoids Phase 3,Phase 2
46 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
47 Protective Agents Phase 3,Phase 1,Not Applicable
48 Bone Density Conservation Agents Phase 3
49 Trace Elements Phase 3
50 Vitamins Phase 3

Interventional clinical trials:

(show top 50) (show all 74)
# 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 Safety and Efficacy of Everolimus (Afinitor®) in Chinese Adult Patients With Angiomyolipoma Associated With Tuberous Sclerosis Complex. Recruiting NCT03525834 Phase 4 everolimus
4 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
5 Sabril for Complex Partial Seizures in Adult Tolerability Study (TS) Patients Terminated NCT01266291 Phase 4 vigabatrin
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;Antiepileptic drug (1 to 3 only);open label RAD001 (only used for post-extension phase)
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 Long-term Trial of Topical Sirolimus to Angiofibroma in Patient With Tuberous Sclerosis Complex Completed NCT02634931 Phase 3 NPC-12G gel
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) Active, not 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 Active, not 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 Dose-Ranging Efficacy and Safety Study of Topical Rapamycin Cream for Facial Angiofibroma Associated With Tuberous Sclerosis Complex Not yet recruiting NCT03826628 Phase 2, Phase 3 rapamycin;placebo
19 Topical Everolimus in Patients With Tuberous Sclerosis Complex Not yet recruiting NCT02860494 Phase 2, Phase 3 Everolimus;Placebo
20 Trial of Efficacy and Safety of Sirolimus in Tuberous Sclerosis and LAM Unknown status NCT00490789 Phase 2 sirolimus
21 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
22 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
23 Sirolimus in Treating Patients With Angiomyolipoma of the Kidney Unknown status NCT00126672 Phase 2 sirolimus
24 Rapamycin Therapy for Patients With Tuberous Sclerosis Complex and Sporadic LAM Completed NCT00457808 Phase 2 Rapamycin, sirolimus
25 Trial of RAD001 and Neurocognition in Tuberous Sclerosis Complex (TSC) Completed NCT01289912 Phase 2 RAD001;Placebo
26 Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers Completed NCT02104011 Phase 2 Propranolol
27 Everolimus (RAD001) Therapy for Epilepsy in Patients With Tuberous Sclerosis Complex (TSC) Completed NCT01070316 Phase 1, Phase 2 Everolimus
28 Everolimus (RAD001) Therapy of Giant Cell Astrocytoma in Patients With Tuberous Sclerosis Complex Completed NCT00411619 Phase 1, Phase 2 Everolimus
29 Long Term Follow Up for RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis (TSC) and Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00792766 Phase 1, Phase 2 everolimus (RAD001)
30 RAD001 Therapy of Angiomyolipomata in Patients With TS Complex and Sporadic LAM Completed NCT00457964 Phase 1, Phase 2 RAD001
31 Topical Rapamycin to Erase Angiofibromas in TSC Completed NCT01526356 Phase 2 Placebo;Rapamycin;Rapamycin
32 Rapalogues for Autism Phenotype in TSC: A Feasibility Study Completed NCT01929642 Phase 2 Sirolimus;Everolimus
33 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)
34 Preventing Epilepsy Using Vigabatrin In Infants With Tuberous Sclerosis Complex Recruiting NCT02849457 Phase 2 Vigabatrin;Placebo
35 Topical Sirolimus Ointment for Cutaneous Angiofibromas in Subjects With Tuberous Sclerosis Complex Recruiting NCT03363763 Phase 2 Sirolimus 0.2%;Sirolimus 0.4%;Placebo ointment
36 Aspirin as an add-on Treatment of Refractory Epilepsy in Tuberous Sclerosis Complex Recruiting NCT03356769 Phase 2 Aspirin;AED;Placebo
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 Sapanisertib in Treating Patients With Locally Advanced or Metastatic Bladder Cancer With TSC1 and/or TSC2 Mutations Recruiting NCT03047213 Phase 2 Sapanisertib
39 A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-935 (OV935) as an Adjunctive Therapy in Pediatric Patients With Developmental and/or Epileptic Encephalopathies Recruiting NCT03650452 Phase 2 TAK-935;Placebo
40 Autologous Stem Cell Transplantation in Patients With Systemic Sclerosis Recruiting NCT03630211 Phase 2 Cyclophosphamide;Mesna;Rituximab;Alemtuzumab;Thiotepa;GM-CSF
41 A Study of Everolimus in the Treatment of Neurocognitive Problems in Tuberous Sclerosis Active, not recruiting NCT01954693 Phase 2 Placebo;Everolimus (RAD001)
42 Safety of Simvastatin in LAM and TSC Active, not recruiting NCT02061397 Phase 1, Phase 2 Simvastatin
43 Everolimus for Cancer With TSC1 or TSC2 Mutation Active, not recruiting NCT02201212 Phase 2 Everolimus
44 A Phase II Study of Orally Administered BEZ235 Monotherapy in Patients With Metastatic or Unresectable Malignant PEComa Withdrawn NCT01690871 Phase 2 BEZ235
45 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
46 Tuberous Sclerosis Complex: Facial Angiofibroma Skin Cream Completed NCT01853423 Phase 1 Rapamune
47 Assessment of the Pharmacokinetics of Circadin® in Children With Neurodevelopmental Disorders and Sleep Disturbances Completed NCT01903681 Phase 1 Circadin 2 mg;Circadin 10 mg
48 Phase I/Ib Dose Escalation & Biomarker Study of Ceritinib (LDK378) + Everolimus for Locally Advanced or Metastatic Solid Tumors With an Expansion in Non-Small Cell Lung Cancer (NSCLC) Characterized by Abnormalities in Anaplastic Lymphoma Kinase (ALK) Expression Recruiting NCT02321501 Phase 1 Ceritinib (LDK378);Ceritinib (LDK378) 750 mg;Everolimus
49 The Cognitive Variability in NF1 and TSC Monozygotic Twins Unknown status NCT02436746
50 Long-term, Prospective Study Evaluating Clinical and Molecular Biomarkers of Epileptogenesis in a Genetic Model of Epilepsy - Tuberous Sclerosis Complex Unknown status NCT02098759 Not Applicable

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 30

Anatomical Context for Tuberous Sclerosis

MalaCards organs/tissues related to Tuberous Sclerosis:

42
Kidney, Skin, Brain, Heart, Eye, Lung, Bone

Publications for Tuberous Sclerosis

Articles related to Tuberous Sclerosis:

(show top 50) (show all 3113)
# Title Authors Year
1
Malignancy of renal angiomyolipoma from tuberous sclerosis complex with TSC2 mutation. ( 30628968 )
2019
2
Wunderlich syndrome, spontaneous ruptured renal angiomyolipoma & tuberous sclerosis. ( 30629244 )
2019
3
Tuberous sclerosis presenting with tachycardia as an autonomic phenomenon of epilepsy. ( 30854768 )
2019
4
Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study. ( 30868117 )
2019
5
mTOR Hyperactivity Levels Influence the Severity of Epilepsy and Associated Neuropathology in an Experimental Model of Tuberous Sclerosis Complex and Focal Cortical Dysplasia. ( 30700531 )
2019
6
Factors affecting epilepsy prognosis in patients with tuberous sclerosis. ( 30673834 )
2019
7
Does Vagal Nerve Stimulation Treat Drug-Resistant Epilepsy in Patients with Tuberous Sclerosis Complex? ( 30347295 )
2019
8
Survival prediction of Tuberous Sclerosis Complex gene variant in patients with advanced non-small cell lung cancer treated with platinum doublet. ( 30842342 )
2019
9
Extrapulmonary uterine lymphangioleiomyomatosis (LAM) and dysfunctional uterine bleeding: the first presentation of LAM in a tuberous sclerosis complex patient. ( 30804158 )
2019
10
A 39-year-old man with schizophrenia and tuberous sclerosis with a delusion of being a pregnant woman-A case report. ( 30656031 )
2019
11
Tuberous sclerosis-associated neuropsychiatric disorders: a paediatric cohort study. ( 30298907 )
2019
12
Autopsy case of right ventricular rhabdomyoma in tuberous sclerosis complex. ( 30336374 )
2019
13
Best use of the tuberous sclerosis complex-associated neuropsychiatric disorders (TAND) checklist. ( 30378680 )
2019
14
The Impact of Psychiatric Symptoms on Tuberous Sclerosis Complex and Utilization of Mental Health Treatment. ( 30527288 )
2019
15
Neuron-Glia Interactions Increase Neuronal Phenotypes in Tuberous Sclerosis Complex Patient iPSC-Derived Models. ( 30581017 )
2019
16
Correction: Loss of tuberous sclerosis complex 2 sensitizes tumors to nelfinavir-bortezomib therapy to intensify endoplasmic reticulum stress-induced cell death. ( 30622341 )
2019
17
Tuberous sclerosis complex exhibits a new renal cystogenic mechanism. ( 30675765 )
2019
18
Hyperexcitability of the local cortical circuit in mouse models of tuberous sclerosis complex. ( 30683131 )
2019
19
Cannabidiol modulates phosphorylated rpS6 signalling in a zebrafish model of Tuberous Sclerosis Complex. ( 30684511 )
2019
20
Resective surgery in tuberous Sclerosis complex, from Penfield to 2018: A critical review. ( 30686486 )
2019
21
Health utilities and quality of life in individuals with tuberous sclerosis complex (TSC) who experience epileptic seizures: A web-based survey. ( 30690322 )
2019
22
A small blackberry-like nodule on the nipple in a pregnant affected by Tuberous Sclerosis Complex. ( 30717568 )
2019
23
Abnormal glycogen storage in tuberous sclerosis complex caused by impairment of mTORC1-dependent and -independent signaling pathways. ( 30728291 )
2019
24
CT characteristics predict the response to everolimus or sirolimus of renal angiomyolipomas in patients with tuberous sclerosis complex. ( 30756282 )
2019
25
Efficacy and safety of mTOR inhibitors (rapamycin and its analogues) for tuberous sclerosis complex: a meta-analysis. ( 30760308 )
2019
26
'We've made the best of it. But we do not have a normal life': families' experiences of tuberous sclerosis complex and seizure management. ( 30775832 )
2019
27
Primary ocular presentation of tuberous sclerosis - A case report. ( 30777981 )
2019
28
MR findings of uterine PEComa in patients with tuberous sclerosis: report of two cases. ( 30778737 )
2019
29
Neuronal spiking activity highlights a gradient of epileptogenicity in human tuberous sclerosis lesions. ( 30785010 )
2019
30
Dynamic thiol/disulphide homeostasis in children with neurofibromatosis type 1 and tuberous sclerosis. ( 30820867 )
2019
31
Dermoscopy of subungual red comets associated with tuberous sclerosis complex. ( 30828845 )
2019
32
Fibrous Cephalic Plaque in Tuberous Sclerosis Complex: Treatment With 0.2% Rapamycin. ( 30846165 )
2019
33
Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex. ( 30872599 )
2019
34
Tuberous Sclerosis. ( 30890846 )
2019
35
Finding a cure for tuberous sclerosis complex: From genetics through to targeted drug therapies. ( 30904097 )
2019
36
Resective Surgery for Double Epileptic Foci Overlapping Anterior and Posterior Language Areas: A Case of Epilepsy With Tuberous Sclerosis Complex. ( 29867747 )
2018
37
Reply to "Renal Lesions in Lymphangioleiomyomatosis and Tuberous Sclerosis Complex Are Rarely Biologically Aggressive". ( 29469631 )
2018
38
Rhinencephalon changes in tuberous sclerosis complex. ( 29909560 )
2018
39
Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the <i>TSC1</i> and <i>TSC2</i> genes. ( 29932062 )
2018
40
Magnetic resonance imaging of tuberous sclerosis complex with or without epilepsy at 7A T. ( 29869697 )
2018
41
Tuberous Sclerosis Complex and Diffuse Lipomatosis: Case Report of a Rare Association. ( 29441296 )
2018
42
A rare case of giant renal angiomyolipoma in a woman with tuberous sclerosis. ( 29942788 )
2018
43
Persistence of self-injury, aggression and property destruction in children and adults with tuberous sclerosis complex. ( 29417652 )
2018
44
Genetic and imaging features of cerebellar abnormalities in tuberous sclerosis complex: more insights into their pathogenesis. ( 29882962 )
2018
45
mTOR dysregulation and tuberous sclerosis-related epilepsy. ( 29338461 )
2018
46
Calcification in cerebral parenchyma affects pharmacoresistant epilepsy in tuberous sclerosis. ( 29929111 )
2018
47
Chronic papilledema in a child with classical tuberous sclerosis. ( 29283138 )
2018
48
Consequences of delay in screening, monitoring, and treatment of angiomyolipoma and tuberous sclerosis: A case reporta8c. ( 29701176 )
2018
49
Comparative Effects of Topical 0.2% Sirolimus for Angiofibromas in Adults and Pediatric Patients with Tuberous Sclerosis Complex. ( 29925060 )
2018
50
Tuberous sclerosis complex-associated CNS abnormalities depend on hyperactivation of mTORC1 and Akt. ( 29389670 )
2018

Variations for Tuberous Sclerosis

ClinVar genetic disease variations for Tuberous Sclerosis:

6 (show top 50) (show all 4754)
# Gene Variation Type Significance SNP ID Assembly Location
1 TSC2 NM_000548.4(TSC2): c.167A> G (p.Asn56Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs144165984 GRCh37 Chromosome 16, 2100429: 2100429
2 TSC2 NM_000548.4(TSC2): c.167A> G (p.Asn56Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs144165984 GRCh38 Chromosome 16, 2050428: 2050428
3 TSC2 NM_000548.4(TSC2): c.223G> A (p.Glu75Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs145470784 GRCh37 Chromosome 16, 2100485: 2100485
4 TSC2 NM_000548.4(TSC2): c.223G> A (p.Glu75Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs145470784 GRCh38 Chromosome 16, 2050484: 2050484
5 TSC1 NM_000368.4(TSC1): c.3435G> A (p.Pro1145=) single nucleotide variant Benign/Likely benign rs140352085 GRCh37 Chromosome 9, 135771682: 135771682
6 TSC1 NM_000368.4(TSC1): c.3435G> A (p.Pro1145=) single nucleotide variant Benign/Likely benign rs140352085 GRCh38 Chromosome 9, 132896295: 132896295
7 TSC2 NM_000548.4(TSC2): c.628G> A (p.Ala210Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs147196739 GRCh38 Chromosome 16, 2056224: 2056224
8 TSC2 NM_000548.4(TSC2): c.628G> A (p.Ala210Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs147196739 GRCh37 Chromosome 16, 2106225: 2106225
9 TSC2 NM_000548.4(TSC2): c.708C> T (p.Leu236=) single nucleotide variant Conflicting interpretations of pathogenicity rs756121647 GRCh38 Chromosome 16, 2056703: 2056703
10 TSC2 NM_000548.4(TSC2): c.708C> T (p.Leu236=) single nucleotide variant Conflicting interpretations of pathogenicity rs756121647 GRCh37 Chromosome 16, 2106704: 2106704
11 TSC2 NM_000548.4(TSC2): c.2032G> A (p.Ala678Thr) single nucleotide variant Benign/Likely benign rs200494044 GRCh38 Chromosome 16, 2071869: 2071869
12 TSC2 NM_000548.4(TSC2): c.2032G> A (p.Ala678Thr) single nucleotide variant Benign/Likely benign rs200494044 GRCh37 Chromosome 16, 2121870: 2121870
13 TSC2 NM_000548.4(TSC2): c.3777C> T (p.Ser1259=) single nucleotide variant Conflicting interpretations of pathogenicity rs786202178 GRCh37 Chromosome 16, 2131762: 2131762
14 TSC2 NM_000548.4(TSC2): c.3777C> T (p.Ser1259=) single nucleotide variant Conflicting interpretations of pathogenicity rs786202178 GRCh38 Chromosome 16, 2081761: 2081761
15 TSC2 NM_000548.4(TSC2): c.*5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201342697 GRCh38 Chromosome 16, 2088615: 2088615
16 TSC2 NM_000548.4(TSC2): c.*5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201342697 GRCh37 Chromosome 16, 2138616: 2138616
17 TSC1 NM_000368.4(TSC1): c.3123C> G (p.Ser1041Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs753374839 GRCh38 Chromosome 9, 132896607: 132896607
18 TSC1 NM_000368.4(TSC1): c.3123C> G (p.Ser1041Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs753374839 GRCh37 Chromosome 9, 135771994: 135771994
19 TSC1 NM_000368.4(TSC1): c.2209-9C> G single nucleotide variant Conflicting interpretations of pathogenicity rs118203660 GRCh37 Chromosome 9, 135778183: 135778183
20 TSC1 NM_000368.4(TSC1): c.2209-9C> G single nucleotide variant Conflicting interpretations of pathogenicity rs118203660 GRCh38 Chromosome 9, 132902796: 132902796
21 TSC1 NM_000368.4(TSC1): c.772G> A (p.Glu258Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs118203450 GRCh38 Chromosome 9, 132912423: 132912423
22 TSC1 NM_000368.4(TSC1): c.772G> A (p.Glu258Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs118203450 GRCh37 Chromosome 9, 135787810: 135787810
23 TSC2 NM_000548.4(TSC2): c.226C> T (p.His76Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs574779350 GRCh38 Chromosome 16, 2053342: 2053342
24 TSC2 NM_000548.4(TSC2): c.226C> T (p.His76Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs574779350 GRCh37 Chromosome 16, 2103343: 2103343
25 TSC2 NM_000548.4(TSC2): c.1292C> T (p.Ala431Val) single nucleotide variant Conflicting interpretations of pathogenicity rs202187148 GRCh38 Chromosome 16, 2062531: 2062531
26 TSC2 NM_000548.4(TSC2): c.1292C> T (p.Ala431Val) single nucleotide variant Conflicting interpretations of pathogenicity rs202187148 GRCh37 Chromosome 16, 2112532: 2112532
27 TSC2 NM_000548.4(TSC2): c.1916G> A (p.Arg639Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs753932484 GRCh38 Chromosome 16, 2071586: 2071586
28 TSC2 NM_000548.4(TSC2): c.1916G> A (p.Arg639Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs753932484 GRCh37 Chromosome 16, 2121587: 2121587
29 TSC2 NM_000548.4(TSC2): c.2049C> T (p.Ser683=) single nucleotide variant Benign/Likely benign rs569518378 GRCh37 Chromosome 16, 2121887: 2121887
30 TSC2 NM_000548.4(TSC2): c.2049C> T (p.Ser683=) single nucleotide variant Benign/Likely benign rs569518378 GRCh38 Chromosome 16, 2071886: 2071886
31 TSC2 NM_000548.4(TSC2): c.2097+13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs367915255 GRCh38 Chromosome 16, 2071947: 2071947
32 TSC2 NM_000548.4(TSC2): c.2097+13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs367915255 GRCh37 Chromosome 16, 2121948: 2121948
33 TSC2 NM_000548.4(TSC2): c.2348C> G (p.Thr783Ser) single nucleotide variant Benign/Likely benign rs562945619 GRCh38 Chromosome 16, 2072976: 2072976
34 TSC2 NM_000548.4(TSC2): c.2348C> G (p.Thr783Ser) single nucleotide variant Benign/Likely benign rs562945619 GRCh37 Chromosome 16, 2122977: 2122977
35 TSC2 NM_000548.4(TSC2): c.5357C> G (p.Pro1786Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs770117004 GRCh37 Chromosome 16, 2138544: 2138544
36 TSC2 NM_000548.4(TSC2): c.5357C> G (p.Pro1786Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs770117004 GRCh38 Chromosome 16, 2088543: 2088543
37 TSC1 NM_000368.4(TSC1): c.2675_2676delGA (p.Arg892Lysfs) deletion Pathogenic rs118203726 GRCh38 Chromosome 9, 132897560: 132897561
38 TSC1 NM_000368.4(TSC1): c.2675_2676delGA (p.Arg892Lysfs) deletion Pathogenic rs118203726 GRCh37 Chromosome 9, 135772947: 135772948
39 TSC2 NM_000548.4(TSC2): c.2546-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs746958032 GRCh38 Chromosome 16, 2075795: 2075795
40 TSC2 NM_000548.4(TSC2): c.2546-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs746958032 GRCh37 Chromosome 16, 2125796: 2125796
41 TSC2 NM_000548.4(TSC2): c.2838-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs528706539 GRCh37 Chromosome 16, 2127593: 2127593
42 TSC2 NM_000548.4(TSC2): c.2838-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs528706539 GRCh38 Chromosome 16, 2077592: 2077592
43 TSC1 NM_000368.4(TSC1): c.1888_1891delAAAG (p.Lys630Glnfs) deletion Pathogenic GRCh37 Chromosome 9, 135781074: 135781077
44 TSC1 NM_000368.4(TSC1): c.1888_1891delAAAG (p.Lys630Glnfs) deletion Pathogenic GRCh38 Chromosome 9, 132905687: 132905690
45 TSC1 NM_000368.4(TSC1): c.749T> A (p.Leu250Ter) single nucleotide variant Pathogenic rs118203447 GRCh37 Chromosome 9, 135787833: 135787833
46 TSC1 NM_000368.4(TSC1): c.749T> A (p.Leu250Ter) single nucleotide variant Pathogenic rs118203447 GRCh38 Chromosome 9, 132912446: 132912446
47 TSC1 NM_000368.4(TSC1): c.1760A> G (p.Lys587Arg) single nucleotide variant Benign rs118203576 GRCh37 Chromosome 9, 135781205: 135781205
48 TSC1 NM_000368.4(TSC1): c.1760A> G (p.Lys587Arg) single nucleotide variant Benign rs118203576 GRCh38 Chromosome 9, 132905818: 132905818
49 TSC1 NM_000368.4(TSC1): c.1904_1905delCA (p.Thr635Argfs) deletion Pathogenic rs118203597 GRCh37 Chromosome 9, 135781060: 135781061
50 TSC1 NM_000368.4(TSC1): c.1904_1905delCA (p.Thr635Argfs) deletion Pathogenic rs118203597 GRCh38 Chromosome 9, 132905673: 132905674

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 82)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.23 AKT1 EIF4EBP1 GFAP MTOR NF1 RAP1A
2
Show member pathways
13.92 AKT1 CCL26 GFAP MTOR NF1 RAP1A
3
Show member pathways
13.61 AKT1 MTOR RHEB RPS6 RPS6KA1 RPS6KB1
4
Show member pathways
13.61 AKT1 CCL26 DCX EIF4EBP1 MTOR RAP1A
5
Show member pathways
13.45 AKT1 CCL26 EIF4EBP1 MTOR RPS6KB1 TSC1
6
Show member pathways
13.16 AKT1 EIF4EBP1 MTOR RHEB RPS6 RPS6KA1
7
Show member pathways
13.09 AKT1 EIF4EBP1 MTOR RHEB RPS6 RPS6KB1
8
Show member pathways
13.04 AKT1 EIF4EBP1 MTOR RHEB RPS6KB1 TSC1
9
Show member pathways
13 AKT1 MTOR RAP1A RHEB RPS6KB1 TSC2
10
Show member pathways
13 AKT1 EIF4EBP1 MTOR RHEB RPS6 RPS6KA1
11
Show member pathways
12.94 AKT1 MTOR RAP1A RPS6 RPS6KA1 RPS6KB1
12
Show member pathways
12.94 AKT1 EIF4EBP1 MTOR RHEB RPS6KB1 TSC2
13
Show member pathways
12.85 AKT1 EIF4EBP1 MTOR RPS6 RPS6KB1
14
Show member pathways
12.85 AKT1 MTOR RAP1A RPS6 RPS6KA1 RPS6KB1
15
Show member pathways
12.81 AKT1 EIF4EBP1 MTOR NF1 RPS6 RPS6KB1
16
Show member pathways
12.77 AKT1 EIF4EBP1 MTOR RAP1A RPS6KA1
17
Show member pathways
12.76 AKT1 MTOR RAP1A RHEB RPS6KB1 TSC2
18 12.66 DBH DCX GFAP NF1 SYP
19
Show member pathways
12.66 AKT1 EIF4EBP1 MTOR RAP1A RPS6KB1
20
Show member pathways
12.62 AKT1 EIF4EBP1 MTOR RHEB RPS6KA1 RPS6KB1
21
Show member pathways
12.6 AKT1 EIF4EBP1 MTOR RPS6 RPS6KA1 RPS6KB1
22
Show member pathways
12.52 AKT1 EIF4EBP1 MTOR RHEB RPS6KB1 TSC1
23
Show member pathways
12.51 AKT1 EIF4EBP1 MTOR RAP1A
24
Show member pathways
12.47 AKT1 EIF4EBP1 MTOR RHEB RPS6 RPS6KA1
25
Show member pathways
12.43 AKT1 EIF4EBP1 MTOR RPS6KA1 RPS6KB1
26
Show member pathways
12.43 AKT1 EIF4EBP1 MTOR RHEB RPS6 RPS6KB1
27
Show member pathways
12.42 AKT1 EIF4EBP1 MTOR RHEB RPS6 RPS6KA1
28
Show member pathways
12.41 AKT1 EIF4EBP1 MTOR RPS6 RPS6KB1 TSC1
29 12.4 EIF4EBP1 MTOR RPS6 RPS6KB1 TSC1 TSC2
30
Show member pathways
12.37 AKT1 MTOR RAP1A RPS6KB1
31
Show member pathways
12.36 AKT1 EIF4EBP1 MTOR RHEB RPS6 RPS6KA1
32
Show member pathways
12.35 AKT1 EIF4EBP1 MTOR RPS6KB1 TSC1 TSC2
33 12.34 AKT1 MTOR RPS6 RPS6KB1
34 12.32 AKT1 EIF4EBP1 MTOR RAP1A RPS6KA1 RPS6KB1
35
Show member pathways
12.3 AKT1 MTOR RAP1A RPS6
36 12.3 AKT1 EIF4EBP1 MTOR RHEB TSC1 TSC2
37 12.25 AKT1 EIF4EBP1 MTOR RHEB RPS6KB1 TSC1
38
Show member pathways
12.24 AKT1 RPS6 RPS6KA1 RPS6KB1
39
Show member pathways
12.24 AKT1 MTOR RHEB RPS6KA1
40
Show member pathways
12.24 AKT1 MTOR RHEB RPS6KB1 TSC2
41
Show member pathways
12.24 AKT1 EIF4EBP1 MTOR RPS6KB1 TSC2
42 12.24 AKT1 MTOR NF1 RAP1A RHEB TSC1
43
Show member pathways
12.24 AKT1 EIF4EBP1 MTOR RHEB RPS6 RPS6KB1
44
Show member pathways
12.22 AKT1 EIF4EBP1 MTOR RHEB RPS6KB1 TSC1
45
Show member pathways
12.2 MTOR RHEB TSC1 TSC2
46 12.18 AKT1 MTOR RHEB RPS6KB1 TSC1 TSC2
47
Show member pathways
12.17 AKT1 EIF4EBP1 MTOR RPS6KA1 RPS6KB1
48 12.16 AKT1 MTOR RPS6 RPS6KB1
49
Show member pathways
12.15 AKT1 RPS6 RPS6KA1 RPS6KB1
50
Show member pathways
12.14 EIF4EBP1 MTOR RHEB RPS6KB1 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 9.83 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 29)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.95 CCL26 NF1 RAP1A TBC1D7 TSC2
2 peptidyl-serine phosphorylation GO:0018105 9.83 AKT1 MTOR PKD1 RPS6KB1
3 cellular response to interferon-gamma GO:0071346 9.82 CCL26 RPS6KB1 VIM
4 regulation of translation GO:0006417 9.81 AKT1 EIF4EBP1 RPS6KB1 TSC1
5 negative regulation of protein kinase activity GO:0006469 9.8 AKT1 NF1 TSC2
6 positive regulation of translation GO:0045727 9.79 MTOR RPS6KB1 VIM
7 response to insulin GO:0032868 9.79 MTOR RPS6KB1 TSC1
8 cellular response to organic cyclic compound GO:0071407 9.77 AKT1 RAP1A RPS6KB1
9 negative regulation of neuron projection development GO:0010977 9.76 GFAP TSC1 VIM
10 positive regulation of smooth muscle cell proliferation GO:0048661 9.74 AKT1 MTOR RPS6KB1
11 visual learning GO:0008542 9.73 DBH MTOR NF1
12 germ cell development GO:0007281 9.67 AKT1 MTOR RPS6KB1
13 positive regulation of endothelial cell proliferation GO:0001938 9.67 AKT1 CCL26 MTOR NF1
14 protein kinase B signaling GO:0043491 9.65 AKT1 RPS6KB1 TSC2
15 insulin-like growth factor receptor signaling pathway GO:0048009 9.64 AKT1 TSC2
16 G1/S transition of mitotic cell cycle GO:0000082 9.63 EIF4EBP1 RPS6KB1
17 regulation of cell-matrix adhesion GO:0001952 9.63 NF1 TSC1
18 negative regulation of TOR signaling GO:0032007 9.63 TBC1D7 TSC1 TSC2
19 response to fluid shear stress GO:0034405 9.61 AKT1 PKD1
20 Bergmann glial cell differentiation GO:0060020 9.59 GFAP VIM
21 regulation of glycogen biosynthetic process GO:0005979 9.58 AKT1 MTOR
22 negative regulation of insulin receptor signaling pathway GO:0046627 9.58 RPS6KB1 TSC1 TSC2
23 negative regulation of macroautophagy GO:0016242 9.5 AKT1 MTOR TSC1
24 intermediate filament-based process GO:0045103 9.43 GFAP VIM
25 anoikis GO:0043276 9.43 AKT1 MTOR TSC2
26 negative regulation of cell size GO:0045792 9.33 AKT1 MTOR TSC1
27 spinal cord development GO:0021510 9.26 AKT1 MTOR NF1 PKD1
28 activation-induced cell death of T cells GO:0006924 9.24 AKT1
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 protein binding GO:0005515 9.91 AKT1 CCL26 DCX EIF4EBP1 GFAP MTOR
2 protein serine/threonine/tyrosine kinase activity GO:0004712 9.33 AKT1 RPS6KA1 RPS6KB1
3 GTPase activating protein binding GO:0032794 9.32 AKT1 TSC1
4 ribosomal protein S6 kinase activity GO:0004711 9.26 RPS6KA1 RPS6KB1
5 protein kinase binding GO:0019901 9.1 AKT1 DCX MTOR PKD1 RHEB RPS6

Sources for Tuberous Sclerosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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