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
Bourneville's Syndrome 54
Bourneville Syndrome 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 Sirolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and skin, 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 415)
# Related Disease Score Top Affiliating Genes
1 tuberous sclerosis 1 35.0 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 31.9 CCL26 MTOR TSC1 TSC2
7 kidney angiomyolipoma 31.7 MTOR RHEB TSC1 TSC2
8 congenital heart defects, hamartomas of tongue, and polysyndactyly 31.4 CCL26 TSC1 TSC2
9 renal cell carcinoma, nonpapillary 31.2 MTOR TSC1 TSC2 VIM
10 hepatic angiomyolipoma 30.8 MTOR TSC2
11 focal cortical dysplasia, type ii 30.7 MTOR TSC1 TSC2
12 autosomal dominant polycystic kidney disease 30.7 MTOR PKD1 TSC1 TSC2
13 megalencephaly 30.6 MTOR TBC1D7 TSC1
14 cystic kidney disease 30.4 CCL26 PKD1 TSC1 TSC2
15 perivascular epithelioid cell tumor 30.4 SYP TSC2 VIM
16 ganglioglioma 30.4 GFAP SYP TSC2
17 glioblastoma multiforme 30.3 AKT1 GFAP MTOR RPS6KB1
18 polycystic kidney disease 1 with or without polycystic liver disease 30.2 MTOR PKD1 TSC1 TSC2
19 subependymoma 30.2 GFAP SYP TSC2
20 ependymoma 30.2 GFAP SYP VIM
21 chordoid meningioma 30.1 GFAP SYP VIM
22 meningioma, familial 30.1 AKT1 GFAP NF1 SYP
23 obstructive hydrocephalus 30.1 GFAP NF1 SYP
24 subependymal glioma 29.9 GFAP MTOR SYP TSC1 TSC2
25 benign ependymoma 29.9 GFAP MTOR SYP TSC1 TSC2
26 sudanophilic cerebral sclerosis 12.3
27 cerebral sclerosis similar to pelizaeus-merzbacher disease 12.2
28 cerebral sclerosis, diffuse, scholz type 12.1
29 adrenoleukodystrophy 11.8
30 metachromatic leukodystrophy 11.8
31 lennox-gastaut syndrome 11.7
32 tumefactive multiple sclerosis 11.6
33 hemimegalencephaly 11.5
34 insulinoma 11.5
35 neuroendocrine tumor 11.5
36 glioma susceptibility 1 11.5
37 moyamoya disease 1 11.5
38 renal oncocytoma 11.5
39 myelinoclastic diffuse sclerosis 11.4
40 mitochondrial dna depletion syndrome 4a 11.3
41 spinal cancer 11.2
42 autosomal dominant café au lait spots 11.2
43 pilocytic astrocytoma 11.2
44 soft tissue sarcoma 11.2
45 brain and spinal tumors 11.2
46 pelizaeus-merzbacher disease 11.1
47 balo concentric sclerosis 11.1
48 epilepsy 10.9
49 astrocytoma 10.7
50 autism 10.6

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 134)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 53123-88-9 46835353 5284616 6436030
2
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 22916-47-8 4189
3
Everolimus Approved Phase 4,Phase 2,Phase 3,Phase 1 159351-69-6 70789204 6442177
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 Antibiotics, Antitubercular Phase 4,Phase 2,Phase 3,Phase 1
8 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
9 Immunologic Factors Phase 4,Phase 2,Phase 3,Phase 1
10 Immunosuppressive Agents 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 Antimalarials Phase 4
14 Antiparasitic Agents Phase 4
15 Antiprotozoal Agents 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
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
20
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
21
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
22
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
23
Phenytoin Approved, Vet_approved Phase 3 57-41-0 1775
24
Topiramate Approved Phase 3 97240-79-4 5284627
25
Phenobarbital Approved, Investigational Phase 3 50-06-6 4763
26
Carbamazepine Approved, Investigational Phase 3 298-46-4 2554
27
Clobazam Approved, Illicit Phase 3 22316-47-8 2789
28
Clonazepam Approved, Illicit Phase 3 1622-61-3 2802
29
Ethanol Approved Phase 3 64-17-5 702
30 Strawberry Approved Phase 3
31
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 5280453 134070
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 Gastrointestinal Agents Phase 3,Phase 2
36 Hormone Antagonists Phase 3,Phase 2
37 glucocorticoids Phase 3,Phase 2
38 Protective Agents Phase 3,Phase 1,Not Applicable
39 Peripheral Nervous System Agents Phase 3,Phase 2
40 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
41 Anti-Inflammatory Agents Phase 3,Phase 2
42 Antiemetics Phase 3
43 Methylprednisolone Acetate Phase 3
44 Prednisolone acetate Phase 3
45 Hormones Phase 3,Phase 2
46 Autonomic Agents Phase 3
47 Neuroprotective Agents Phase 3
48 Vasoconstrictor Agents Phase 3
49 Calcium, Dietary Phase 3
50 Trace Elements 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;Intravenous immunoglobulin
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, Brain, Skin, Eye, Thyroid, Lung, Colon

Publications for Tuberous Sclerosis

Articles related to Tuberous Sclerosis:

(show top 50) (show all 3153)
# Title Authors Year
1
Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness. ( 29697822 )
2019
2
Correction: miR-9-5p, miR-124-3p, and miR-132-3p regulate BCL2L11 in tuberous sclerosis complex angiomyolipoma. ( 30337693 )
2019
3
Continuous low-dose everolimus shrinkage tuberous sclerosis complex-associated renal angiomyolipoma: a 48-month follow-up study. ( 30455224 )
2019
4
Malignancy of renal angiomyolipoma from tuberous sclerosis complex with TSC2 mutation. ( 30628968 )
2019
5
Wunderlich syndrome, spontaneous ruptured renal angiomyolipoma & tuberous sclerosis. ( 30629244 )
2019
6
Birt-Hogg-Dubé syndrome initially diagnosed as tuberous sclerosis complex. ( 31008171 )
2019
7
Factors affecting epilepsy prognosis in patients with tuberous sclerosis. ( 30673834 )
2019
8
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
9
Desmoplastic fibroma associated with tuberous sclerosis: case report and literature review. ( 31078508 )
2019
10
Circulating lymphangioleiomyomatosis tumor cells with loss of heterozygosity in the Tuberous Sclerosis Complex 2 gene show increased aldehyde dehydrogenase activity. ( 31034819 )
2019
11
Corrigendum: Regulation of the TSC pathway by LKB1: evidence of a molecular link between tuberous sclerosis complex and Peutz-Jeghers syndrome. ( 30936192 )
2019
12
Tuberous sclerosis-associated neuropsychiatric disorders: a paediatric cohort study. ( 30298907 )
2019
13
Unilateral shortening of third metacarpal bone in a patient with tuberous sclerosis. ( 30308143 )
2019
14
Autopsy case of right ventricular rhabdomyoma in tuberous sclerosis complex. ( 30336374 )
2019
15
Best use of the tuberous sclerosis complex-associated neuropsychiatric disorders (TAND) checklist. ( 30378680 )
2019
16
Health utilities and quality of life in individuals with tuberous sclerosis complex (TSC) who experience epileptic seizures: A web-based survey. ( 30690322 )
2019
17
A small blackberry-like nodule on the nipple in a pregnant affected by Tuberous Sclerosis Complex. ( 30717568 )
2019
18
Abnormal glycogen storage in tuberous sclerosis complex caused by impairment of mTORC1-dependent and -independent signaling pathways. ( 30728291 )
2019
19
CT characteristics predict the response to everolimus or sirolimus of renal angiomyolipomas in patients with tuberous sclerosis complex. ( 30756282 )
2019
20
Efficacy and safety of mTOR inhibitors (rapamycin and its analogues) for tuberous sclerosis complex: a meta-analysis. ( 30760308 )
2019
21
'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
22
Primary ocular presentation of tuberous sclerosis - A case report. ( 30777981 )
2019
23
MR findings of uterine PEComa in patients with tuberous sclerosis: report of two cases. ( 30778737 )
2019
24
Neuronal spiking activity highlights a gradient of epileptogenicity in human tuberous sclerosis lesions. ( 30785010 )
2019
25
Dynamic thiol/disulphide homeostasis in children with neurofibromatosis type 1 and tuberous sclerosis. ( 30820867 )
2019
26
Dermoscopy of subungual red comets associated with tuberous sclerosis complex. ( 30828845 )
2019
27
Fibrous Cephalic Plaque in Tuberous Sclerosis Complex: Treatment With 0.2% Rapamycin. ( 30846165 )
2019
28
Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex. ( 30872599 )
2019
29
Tuberous Sclerosis. ( 30890846 )
2019
30
Finding a cure for tuberous sclerosis complex: From genetics through to targeted drug therapies. ( 30904097 )
2019
31
Histone deacetylase inhibitors restore normal hippocampal synaptic plasticity and seizure threshold in a mouse model of Tuberous Sclerosis Complex. ( 30918308 )
2019
32
Disappearance of symptomatic generalized 3-Hz discharges after focal surgery in a patient with tuberous sclerosis. ( 30927612 )
2019
33
NitroSynapsin for the treatment of neurological manifestations of tuberous sclerosis complex in a rodent model. ( 30928642 )
2019
34
Impacting development in infants with tuberous sclerosis complex: Multidisciplinary research collaboration. ( 30945897 )
2019
35
Deceased Donor Renal Transplantation Combined with Bilateral Nephrectomy in a Patient with Tuberous Sclerosis and Renal Failure. ( 30963017 )
2019
36
An update on the central nervous system manifestations of tuberous sclerosis complex. ( 30976976 )
2019
37
Correction: The p38 and MK2 kinase cascade phosphorylates tuberin, the tuberous sclerosis 2 gene product, and enhances its interaction with 14-3-3. ( 30979849 )
2019
38
Correction to: Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study. ( 31084624 )
2019
39
Cerebral aquaporin-4 expression is independent of seizures in tuberous sclerosis complex. ( 31078684 )
2019
40
Experience of follow-up, quality of life, and transition from pediatric to adult healthcare of patients with tuberous sclerosis complex. ( 31077938 )
2019
41
Intracranial aneurysms in patients with tuberous sclerosis complex: a systematic review. ( 31075764 )
2019
42
Tuberous sclerosis and cutaneous stigmata: ever-expanding spectrum. ( 31072875 )
2019
43
New frontiers in modeling Tuberous Sclerosis with human stem cell-derived neurons and brain organoids. ( 31070828 )
2019
44
Characterization of the Basal Ganglia Using Diffusion Tensor Imaging in Children with Self-Injurious Behavior and Tuberous Sclerosis Complex. ( 31056796 )
2019
45
Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study. ( 31053163 )
2019
46
A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report. ( 31039793 )
2019
47
Tuberous sclerosis complex: A rare etiology of multiple subsolid nodules. ( 31036377 )
2019
48
Regression of renal angiomyolipomas with oral rapamycin therapy in a patient with tuberous sclerosis complex disease. ( 31031395 )
2019
49
Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex. ( 31018109 )
2019
50
Tuberous Sclerosis Complex Genotypes and Developmental Phenotype. ( 31005478 )
2019

Variations for Tuberous Sclerosis

ClinVar genetic disease variations for Tuberous Sclerosis:

6 (show top 50) (show all 4758)
# Gene Variation Type Significance SNP ID Assembly Location
1 TSC1 NM_000368.4(TSC1): c.1888_1891delAAAG (p.Lys630Glnfs) deletion Pathogenic GRCh37 Chromosome 9, 135781074: 135781077
2 TSC1 NM_000368.4(TSC1): c.1888_1891delAAAG (p.Lys630Glnfs) deletion Pathogenic 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.1760A> G (p.Lys587Arg) single nucleotide variant Benign rs118203576 GRCh37 Chromosome 9, 135781205: 135781205
6 TSC1 NM_000368.4(TSC1): c.1760A> G (p.Lys587Arg) single nucleotide variant Benign rs118203576 GRCh38 Chromosome 9, 132905818: 132905818
7 TSC1 NM_000368.4(TSC1): c.1904_1905delCA (p.Thr635Argfs) deletion Pathogenic rs118203597 GRCh37 Chromosome 9, 135781060: 135781061
8 TSC1 NM_000368.4(TSC1): c.1904_1905delCA (p.Thr635Argfs) deletion Pathogenic rs118203597 GRCh38 Chromosome 9, 132905673: 132905674
9 TSC1 NM_000368.4(TSC1): c.2194C> T (p.His732Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs118203657 GRCh37 Chromosome 9, 135779052: 135779052
10 TSC1 NM_000368.4(TSC1): c.2194C> T (p.His732Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs118203657 GRCh38 Chromosome 9, 132903665: 132903665
11 TSC1 NM_000368.4(TSC1): c.671T> G (p.Met224Arg) single nucleotide variant Pathogenic rs118203426 GRCh37 Chromosome 9, 135796816: 135796816
12 TSC1 NM_000368.4(TSC1): c.671T> G (p.Met224Arg) single nucleotide variant Pathogenic rs118203426 GRCh38 Chromosome 9, 132921429: 132921429
13 TSC1 NM_000368.4(TSC1): c.539T> C (p.Leu180Pro) single nucleotide variant Pathogenic rs118203396 GRCh37 Chromosome 9, 135797330: 135797330
14 TSC1 NM_000368.4(TSC1): c.539T> C (p.Leu180Pro) single nucleotide variant Pathogenic rs118203396 GRCh38 Chromosome 9, 132921943: 132921943
15 TSC2 NM_000548.4(TSC2): c.4642delC (p.Leu1548Cysfs) deletion Pathogenic rs137854083 GRCh37 Chromosome 16, 2135303: 2135303
16 TSC2 NM_000548.4(TSC2): c.4642delC (p.Leu1548Cysfs) deletion Pathogenic rs137854083 GRCh38 Chromosome 16, 2085302: 2085302
17 TSC2 NM_000548.3(TSC2): c.5024C> T (p.Pro1675Leu) single nucleotide variant Pathogenic rs45483392 GRCh37 Chromosome 16, 2137898: 2137898
18 TSC2 NM_000548.3(TSC2): c.5024C> T (p.Pro1675Leu) single nucleotide variant Pathogenic rs45483392 GRCh38 Chromosome 16, 2087897: 2087897
19 TSC2 NM_000548.4(TSC2): c.34A> T (p.Lys12Ter) single nucleotide variant Pathogenic rs45512692 GRCh37 Chromosome 16, 2098650: 2098650
20 TSC2 NM_000548.4(TSC2): c.34A> T (p.Lys12Ter) single nucleotide variant Pathogenic rs45512692 GRCh38 Chromosome 16, 2048649: 2048649
21 TSC2 NM_000548.4(TSC2): c.2056_2059dup (p.Ser687Leufs) duplication Pathogenic rs137854337 GRCh37 Chromosome 16, 2121894: 2121897
22 TSC2 NM_000548.4(TSC2): c.2056_2059dup (p.Ser687Leufs) duplication Pathogenic rs137854337 GRCh38 Chromosome 16, 2071893: 2071896
23 TSC2 NM_000548.4(TSC2): c.1513C> T (p.Arg505Ter) single nucleotide variant Pathogenic rs45517179 GRCh37 Chromosome 16, 2114342: 2114342
24 TSC2 NM_000548.4(TSC2): c.1513C> T (p.Arg505Ter) single nucleotide variant Pathogenic rs45517179 GRCh38 Chromosome 16, 2064341: 2064341
25 TSC2 NM_000548.3(TSC2): c.1832G> A (p.Arg611Gln) single nucleotide variant Pathogenic rs28934872 GRCh37 Chromosome 16, 2120572: 2120572
26 TSC2 NM_000548.3(TSC2): c.1832G> A (p.Arg611Gln) single nucleotide variant Pathogenic rs28934872 GRCh38 Chromosome 16, 2070571: 2070571
27 TSC2 NM_000548.4(TSC2): c.2150T> G (p.Leu717Arg) single nucleotide variant Pathogenic rs45517214 GRCh37 Chromosome 16, 2122294: 2122294
28 TSC2 NM_000548.4(TSC2): c.2150T> G (p.Leu717Arg) single nucleotide variant Pathogenic rs45517214 GRCh38 Chromosome 16, 2072293: 2072293
29 TSC2 NM_000548.4(TSC2): c.1432C> T (p.Gln478Ter) single nucleotide variant Pathogenic rs121964862 GRCh37 Chromosome 16, 2113043: 2113043
30 TSC2 NM_000548.4(TSC2): c.1432C> T (p.Gln478Ter) single nucleotide variant Pathogenic rs121964862 GRCh38 Chromosome 16, 2063042: 2063042
31 TSC2 NM_000548.3(TSC2): c.1096G> T (p.Glu366Ter) single nucleotide variant Pathogenic rs45517148 GRCh37 Chromosome 16, 2110791: 2110791
32 TSC2 NM_000548.3(TSC2): c.1096G> T (p.Glu366Ter) single nucleotide variant Pathogenic rs45517148 GRCh38 Chromosome 16, 2060790: 2060790
33 TSC2 NM_000548.3(TSC2): c.4508A> C (p.Gln1503Pro) single nucleotide variant Pathogenic/Likely pathogenic rs45516293 GRCh37 Chromosome 16, 2134966: 2134966
34 TSC2 NM_000548.3(TSC2): c.4508A> C (p.Gln1503Pro) single nucleotide variant Pathogenic/Likely pathogenic rs45516293 GRCh38 Chromosome 16, 2084965: 2084965
35 TSC2 NM_000548.4(TSC2): c.5238_5255del (p.His1746_Arg1751del) deletion Pathogenic rs137854218 GRCh37 Chromosome 16, 2138305: 2138322
36 TSC2 NM_000548.4(TSC2): c.5238_5255del (p.His1746_Arg1751del) deletion Pathogenic rs137854218 GRCh38 Chromosome 16, 2088304: 2088321
37 TSC2 NM_000548.3(TSC2): c.2714G> A (p.Arg905Gln) single nucleotide variant Pathogenic rs45517259 GRCh37 Chromosome 16, 2126143: 2126143
38 TSC2 NM_000548.3(TSC2): c.2714G> A (p.Arg905Gln) single nucleotide variant Pathogenic rs45517259 GRCh38 Chromosome 16, 2076142: 2076142
39 TSC2 NM_000548.3(TSC2): c.2713C> T (p.Arg905Trp) single nucleotide variant Pathogenic rs45517258 GRCh37 Chromosome 16, 2126142: 2126142
40 TSC2 NM_000548.3(TSC2): c.2713C> T (p.Arg905Trp) single nucleotide variant Pathogenic rs45517258 GRCh38 Chromosome 16, 2076141: 2076141
41 TSC2 NM_000548.4(TSC2): c.2713C> G (p.Arg905Gly) single nucleotide variant Pathogenic rs45517258 GRCh37 Chromosome 16, 2126142: 2126142
42 TSC2 NM_000548.4(TSC2): c.2713C> G (p.Arg905Gly) single nucleotide variant Pathogenic rs45517258 GRCh38 Chromosome 16, 2076141: 2076141
43 TSC2 NM_000548.4(TSC2): c.2355+2_2355+5del deletion Pathogenic rs137854250 GRCh37 Chromosome 16, 2122986: 2122989
44 TSC2 NM_000548.4(TSC2): c.2355+2_2355+5del deletion Pathogenic rs137854250 GRCh38 Chromosome 16, 2072985: 2072988
45 TSC2 NM_000548.4(TSC2): c.1322G> A (p.Trp441Ter) single nucleotide variant Pathogenic rs45515894 GRCh37 Chromosome 16, 2112562: 2112562
46 TSC2 NM_000548.4(TSC2): c.1322G> A (p.Trp441Ter) single nucleotide variant Pathogenic rs45515894 GRCh38 Chromosome 16, 2062561: 2062561
47 TSC1 NM_000368.4(TSC1): c.1001C> T (p.Ser334Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs118203481 GRCh37 Chromosome 9, 135786868: 135786868
48 TSC1 NM_000368.4(TSC1): c.1001C> T (p.Ser334Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs118203481 GRCh38 Chromosome 9, 132911481: 132911481
49 TSC1 NM_000368.4(TSC1): c.1079C> A (p.Thr360Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs118203493 GRCh37 Chromosome 9, 135786451: 135786451
50 TSC1 NM_000368.4(TSC1): c.1079C> A (p.Thr360Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs118203493 GRCh38 Chromosome 9, 132911064: 132911064

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 9.86 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 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 G1/S transition of mitotic cell cycle GO:0000082 9.81 EIF4EBP1 RPS6 RPS6KB1
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 negative regulation of neuron projection development GO:0010977 9.76 GFAP TSC1 VIM
8 visual learning GO:0008542 9.73 DBH MTOR NF1
9 positive regulation of endothelial cell proliferation GO:0001938 9.67 AKT1 CCL26 MTOR NF1
10 cellular response to interferon-gamma GO:0071346 9.64 CCL26 VIM
11 insulin-like growth factor receptor signaling pathway GO:0048009 9.64 AKT1 TSC2
12 regulation of cell-matrix adhesion GO:0001952 9.63 NF1 TSC1
13 negative regulation of TOR signaling GO:0032007 9.63 TBC1D7 TSC1 TSC2
14 response to insulin GO:0032868 9.61 MTOR TSC1
15 response to fluid shear stress GO:0034405 9.61 AKT1 PKD1
16 cellular response to organic cyclic compound GO:0071407 9.6 AKT1 RAP1A
17 Bergmann glial cell differentiation GO:0060020 9.59 GFAP VIM
18 regulation of glycogen biosynthetic process GO:0005979 9.58 AKT1 MTOR
19 negative regulation of insulin receptor signaling pathway GO:0046627 9.58 RPS6KB1 TSC1 TSC2
20 positive regulation of smooth muscle cell proliferation GO:0048661 9.57 AKT1 MTOR
21 activation-induced cell death of T cells GO:0006924 9.54 AKT1 RPS6
22 negative regulation of macroautophagy GO:0016242 9.5 AKT1 MTOR TSC1
23 germ cell development GO:0007281 9.49 AKT1 MTOR
24 protein kinase B signaling GO:0043491 9.48 AKT1 TSC2
25 intermediate filament-based process GO:0045103 9.43 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 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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