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MCID: TBR025
MIFTS: 62

Tuberous Sclerosis 1

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Skin diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Tuberous Sclerosis 1

About this section

MalaCards integrated aliases for Tuberous Sclerosis 1:

Name: Tuberous Sclerosis 1 57 75 29 6 73
Tuberous Sclerosis Complex 57 76 24 25 59 75 37
Tuberous Sclerosis, Type 1 76 53 40
Tuberous Sclerosis 59 75 73
Tuberous Sclerosis-1 57 13
Bourneville Syndrome 59 75
Tuberose Sclerosis 57 25
Tsc1 57 75
Ts 57 75
Tuberous Sclerosis Complex; Tsc 57
Bourneville Phakomatosis 25
Tuberose Sclerosis; Ts 57
Bourneville Disease 25
Cerebral Sclerosis 25
Sclerosis Tuberosa 25
Epiloia 25
Tsc 57

Characteristics:

Orphanet epidemiological data:

59
tuberous sclerosis complex
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (United States),1-5/10000 (Europe),1-9/100000 (Ireland),1-9/100000 (United Kingdom),1-5/10000 (United Kingdom),1-9/100000 (United States),1-9/100000 (Taiwan, Province of China); Age of onset: All ages; Age of death: any age;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
majority of cases are sporadic
highly variable phenotype
genetic heterogeneity (see )
many studies have reported that the phenotype of tuberous sclerosis-1 (tsc1) is less severe than that of tuberous sclerosis-2 (i.e., higher iq, less macules, fewer seizures)
one-third of cases are familial
prevalence of 1 in 6,000 to 1 in 10,000
frequent new mutations (~86%) and/or gonadal mosaicism in tsc1


HPO:

32
tuberous sclerosis 1:
Onset and clinical course phenotypic variability
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Nephrological diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Tuberous Sclerosis 1

About this section
OMIM : 57 Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). (191100)

MalaCards based summary : Tuberous Sclerosis 1, also known as tuberous sclerosis complex, is related to tuberous sclerosis and tuberous sclerosis 2, and has symptoms including back pain, headache and pain. An important gene associated with Tuberous Sclerosis 1 is TSC1 (TSC Complex Subunit 1), and among its related pathways/superpathways are p53 signaling pathway and mTOR signaling pathway. The drugs Everolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and kidney, and related phenotypes are hypothyroidism and precocious puberty

UniProtKB/Swiss-Prot : 75 Tuberous sclerosis 1: An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes.

Genetics Home Reference : 25 Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. These tumors can occur in the skin, brain, kidneys, and other organs, in some cases leading to significant health problems. Tuberous sclerosis complex also causes developmental problems, and the signs and symptoms of the condition vary from person to person.

Wikipedia : 76 Tuberous sclerosis complex (TSC), or epiloia (acronym of \"epilepsy, low intelligence, adenoma... more...

GeneReviews:
Sources

Related Diseases for Tuberous Sclerosis 1

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Diseases in the Tuberous Sclerosis family:

Tuberous Sclerosis 1 Tuberous Sclerosis 2

Diseases related to Tuberous Sclerosis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 tuberous sclerosis 31.7 CCL26 TSC1 TSC2
2 tuberous sclerosis 2 31.4 TSC1 TSC2
3 sudanophilic cerebral sclerosis 12.1
4 gilles de la tourette syndrome 12.0
5 cerebral sclerosis similar to pelizaeus-merzbacher disease 12.0
6 cerebral sclerosis, diffuse, scholz type 11.9
7 turner syndrome 11.8
8 virus-associated trichodysplasia spinulosa 11.6
9 adrenoleukodystrophy 11.3
10 metachromatic leukodystrophy 11.3
11 timothy syndrome 11.1
12 mitochondrial dna depletion syndrome 4a 11.1
13 tumefactive multiple sclerosis 11.1
14 trichostasis spinulosa 11.1
15 temperature sensitivity complementation, cell cycle specific, k12 11.0
16 pelizaeus-merzbacher disease 10.9
17 albinism, oculocutaneous, type ib 10.9
18 colorectal cancer 10.3
19 adult hepatocellular carcinoma 10.2 TSC1 TSC2
20 multilocular clear cell renal cell carcinoma 10.2 TSC1 TSC2
21 subependymal glioma 10.2 TSC1 TSC2
22 kidney angiomyolipoma 10.2 TSC1 TSC2
23 benign ependymoma 10.1 TSC1 TSC2
24 gastric cancer 10.1
25 lissencephaly with cerebellar hypoplasia 10.1 TSC1 TSC2
26 kidney benign neoplasm 10.1 TSC1 TSC2
27 subependymal giant cell astrocytoma 10.1 TSC1 TSC2
28 corneal dystrophy, fleck 10.1 TSC1 TSC2
29 focal cortical dysplasia, type ii 10.1 TSC1 TSC2
30 polycystic liver disease 1 with or without kidney cysts 10.0 TSC1 TSC2
31 polycystic kidney disease 1 with or without polycystic liver disease 10.0 TSC1 TSC2
32 lung cancer 10.0
33 peutz-jeghers syndrome 10.0 TSC1 TSC2
34 angiomatosis 10.0 CCL26 TSC2
35 lymphangioleiomyomatosis 10.0 TSC1 TSC2
36 small cell cancer of the lung 9.9
37 esophagitis 9.9
38 squamous cell carcinoma 9.9
39 adenocarcinoma 9.9
40 cowden disease 9.9 TSC1 TSC2
41 focal epilepsy 9.9 TSC1 TSC2
42 breast cancer 9.8
43 esophageal cancer 9.8
44 pancreatic cancer 9.8
45 hepatitis 9.8
46 pancreatitis 9.8
47 autosomal dominant polycystic kidney disease 9.8 TSC1 TSC2
48 ehlers-danlos syndrome, classic type, 1 9.7
49 renal cell carcinoma, nonpapillary 9.7
50 nail-patella syndrome 9.7

Graphical network of the top 20 diseases related to Tuberous Sclerosis 1:



Diseases related to Tuberous Sclerosis 1
Sources

Symptoms & Phenotypes for Tuberous Sclerosis 1

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Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
hypothyroidism
precocious puberty

Neurologic Behavioral Psychiatric Manifestations:
autism
hyperactivity
attention deficit disorder

Head And Neck Eyes:
achromatic retinal patches
retinal astrocytoma
optic gliomas

Neoplasia:
ependymoma
renal carcinoma
myocardial rhabdomyoma
multiple bilateral renal angiomyolipoma
giant cell astrocytoma
more
Head And Neck Mouth:
pitted dental enamel
gingival fibroma

Skeletal:
cystic areas of bone rarefaction, esp. phalanges

Neurologic Central Nervous System:
seizures
infantile spasms
subependymal nodules
hamartomatous lesions of the brain
cortical tubers
more
Skin Nails Hair Skin:
shagreen patch
subcutaneous nodules
cafe-au-lait spots
facial angiofibroma (adenoma sebaceum)
white ash leaf-shaped macules
more
Cardiovascular Heart:
cardiac rhabdomyoma
wolf-parkinson-white syndrome

Genitourinary Kidneys:
renal cysts
tumors of the kidney (may progress to malignancy in less than 2%)

Respiratory Lung:
lymphangiomyomatosis, rare

Laboratory Abnormalities:
increased frequency of premature centromere disjunction (pcd) in cultured fibroblasts, esp. chromosome 3
loss of heterozygosity in giant cell astrocytomas, angiomyolipomas, rhabdomyomas


Clinical features from OMIM:

191100

Human phenotypes related to Tuberous Sclerosis 1:

59 32 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
2 precocious puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000826
3 intellectual disability 59 32 very rare (1%) Frequent (79-30%) HP:0001249
4 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
5 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
6 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
7 cerebral calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0002514
8 behavioral abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000708
9 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
10 increased intracranial pressure 59 32 occasional (7.5%) Occasional (29-5%) HP:0002516
11 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
12 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
13 emphysema 59 32 occasional (7.5%) Occasional (29-5%) HP:0002097
14 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
15 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
16 prominent occiput 59 32 hallmark (90%) Very frequent (99-80%) HP:0000269
17 hypopigmented skin patches 59 32 frequent (33%) Frequent (79-30%) HP:0001053
18 multiple renal cysts 59 32 occasional (7.5%) Occasional (29-5%) HP:0005562
19 multiple cafe-au-lait spots 59 32 frequent (33%) Frequent (79-30%) HP:0007565
20 gingivitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000230
21 angiofibromas 59 32 hallmark (90%) Very frequent (99-80%) HP:0010615
22 confetti-like hypopigmented macules 59 32 frequent (33%) Frequent (79-30%) HP:0007449
23 nevus flammeus 59 32 frequent (33%) Frequent (79-30%) HP:0001052
24 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
25 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
26 neoplasm of the pancreas 59 32 occasional (7.5%) Occasional (29-5%) HP:0002894
27 abnormality of the respiratory system 59 32 Occasional (29-5%) HP:0002086
28 abnormality of the liver 59 32 occasional (7.5%) Occasional (29-5%) HP:0001392
29 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
30 macrodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0004099
31 retinal hamartoma 59 32 frequent (33%) Frequent (79-30%) HP:0009594
32 pneumothorax 59 32 occasional (7.5%) Occasional (29-5%) HP:0002107
33 shagreen patch 59 32 frequent (33%) Frequent (79-30%) HP:0009721
34 gingival fibromatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000169
35 cortical dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002539
36 renal angiomyolipoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0006772
37 subependymal nodules 59 32 hallmark (90%) Very frequent (99-80%) HP:0009716
38 subependymal giant-cell astrocytoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0009718
39 dental enamel pits 59 32 occasional (7.5%) Occasional (29-5%) HP:0009722
40 achromatic retinal patches 59 32 frequent (33%) Frequent (79-30%) HP:0009727
41 cardiac rhabdomyoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0009729
42 chylothorax 59 32 occasional (7.5%) Occasional (29-5%) HP:0010310
43 skin tags 59 32 hallmark (90%) Very frequent (99-80%) HP:0010609
44 pulmonary lymphangiomyomatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012798
45 ungual fibroma 59 32 hallmark (90%) Very frequent (99-80%) HP:0100804
46 subcutaneous nodule 32 HP:0001482
47 autism 32 HP:0000717
48 attention deficit hyperactivity disorder 32 HP:0007018
49 abnormality of the pleura 59 Occasional (29-5%)
50 specific learning disability 32 HP:0001328

UMLS symptoms related to Tuberous Sclerosis 1:


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

Drugs & Therapeutics for Tuberous Sclerosis 1

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Drugs for Tuberous Sclerosis 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 135)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 4,Phase 2,Phase 3,Phase 1 159351-69-6 6442177
2
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 53123-88-9 5284616 6436030 46835353
4
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
5
Vigabatrin Approved Phase 4,Phase 2 68506-86-5, 60643-86-9 5665
6 Anti-Bacterial Agents Phase 4,Phase 2,Phase 3,Phase 1
7 Antibiotics, Antitubercular Phase 4,Phase 2,Phase 3,Phase 1
8 Antifungal Agents Phase 4,Phase 2,Phase 3,Phase 1
9 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
10 Immunosuppressive Agents Phase 4,Phase 2,Phase 3,Phase 1
11 Antimalarials Phase 4
12 Antiparasitic Agents Phase 4
13 Antiprotozoal Agents Phase 4
14 Neurotransmitter Agents Phase 4,Phase 2
15 Anticonvulsants Phase 4,Phase 2,Not Applicable
16 GABA Agents Phase 4,Phase 2
17
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
18
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
19
Ethanol Approved Phase 3 64-17-5 702
20
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 134070 5280453
21
Melatonin Approved, Nutraceutical, Vet_approved Phase 3,Phase 1 73-31-4 896
22 Strawberry Approved, Nutraceutical Phase 3
23 Antiemetics Phase 3
24 Anti-Inflammatory Agents Phase 3,Phase 2
25 Autonomic Agents Phase 3
26 Gastrointestinal Agents Phase 3,Phase 2
27 glucocorticoids Phase 3,Phase 2
28 Hormone Antagonists Phase 3,Phase 2
29 Hormones Phase 3,Phase 2
30 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
31 Methylprednisolone acetate Phase 3
32 Methylprednisolone Hemisuccinate Phase 3
33 Neuroprotective Agents Phase 3
34 Peripheral Nervous System Agents Phase 3,Phase 2
35 Prednisolone acetate Phase 3
36 Prednisolone hemisuccinate Phase 3
37 Prednisolone phosphate Phase 3
38 Protective Agents Phase 3,Phase 1,Not Applicable
39 Bone Density Conservation Agents Phase 3
40 Calcium, Dietary Phase 3
41 Micronutrients Phase 3
42 Trace Elements Phase 3
43 Vasoconstrictor Agents Phase 3
44 Vitamins Phase 3
45 Antioxidants Phase 3,Phase 1,Not Applicable
46 Central Nervous System Depressants Phase 3,Phase 1
47 Pharmaceutical Solutions Phase 3,Phase 2
48
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
49
Metformin Approved Phase 2 657-24-9 14219 4091
50
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441

Interventional clinical trials:

(show top 50) (show all 78)
# Name Status NCT ID Phase Drugs
1 Rapamycin In Angiomyolipomas In Patients With Tuberous Sclerosis Completed NCT01217125 Phase 4 Sirolimus
2 Doxycycline In Lymphangioleiomyomatosis (LAM) Completed NCT00989742 Phase 4 Doxycycline;Placebo
3 Long-term Follow-up for Growth and Development of Pediatric Patients From CRAD001M2301 Active, not recruiting NCT02338609 Phase 4 Everolimus;Envirolimus drug class as prescribed by Physician
4 Phase IV Study of Safety and Efficacy of Everolimus (Afinitor®) in Chinese Adult Patients With Angiomyolipoma Associated With Tuberous Sclerosis Complex. Not yet recruiting NCT03525834 Phase 4 everolimus
5 Sabril for Complex Partial Seizures in Adult Tolerability Study (TS) Patients Terminated NCT01266291 Phase 4 vigabatrin
6 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 Long-term Trial of Topical Sirolimus to Angiofibroma in Patient With Tuberous Sclerosis Complex Unknown status NCT02634931 Phase 3 NPC-12G gel
8 Phase III Randomized, Double-Blind, Sham-Controlled Study of Plasma Exchange for Acute Severe Attacks of Inflammatory Demyelinating Disease Refractory to Intravenous Methylprednisolone Unknown status NCT00004645 Phase 3
9 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 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
11 Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00790400 Phase 3 Everolimus (RAD001);Everolimus Placebo
12 Phase III Trial of Topical Formulation of Sirolimus to Skin Lesions in Patients With Tuberous Sclerosis Complex (TSC) Completed NCT02635789 Phase 3 NPC-12G gel;Placebo gel
13 Topical Rapamycin and Calcitriol for Angiofibroma of Tuberous Sclerosis Completed NCT03140449 Phase 3 Rapamycin;Calcitriol;Rapamycin-calcitriol combination
14 Efficacy and Safety of Circadin® in the Treatment of Sleep Disturbances in Children With Neurodevelopment Disabilities Completed NCT01906866 Phase 3 Circadin 2/5/10 mg;Placebo
15 A Randomized Controlled Trial of Cannabidiol (GWP42003-P, CBD) for Seizures in Tuberous Sclerosis Complex (GWPCARE6) Recruiting NCT02544763 Phase 3 GWP42003-P;Placebo
16 Roll-over Study to Collect and Assess Long-term Safety of Everolimus in Patients With TSC and Refractory Seizures Who Have Completed the EXIST-3 Study [CRAD001M2304] and Who Are Benefitting From Continued Treatment Recruiting NCT02962414 Phase 3 everolimus
17 An Open-label Extension Trial of Cannabidiol (GWP42003-P, CBD) for Seizures in Tuberous Sclerosis Complex (GWPCARE6) Enrolling by invitation NCT02544750 Phase 3 GWP42003-P
18 Topical Everolimus in Patients With Tuberous Sclerosis Complex Not yet recruiting NCT02860494 Phase 2, Phase 3 Everolimus;Placebo
19 Trial of Efficacy and Safety of Sirolimus in Tuberous Sclerosis and LAM Unknown status NCT00490789 Phase 2 sirolimus
20 Single Arm Trial With Combination of Everolimus and Letrozole in Treatment of Platinum Resistant Relapse or Refractory or Persistent Ovarian Cancer/Endometrial Cancer Unknown status NCT02188550 Phase 2 everolimus and letrozole
21 Activity and Safety of Everolimus+Octreotide LAR+Metformin in Advanced Pancreatic Well-differentiated NETs Unknown status NCT02294006 Phase 2 Everolimus plus Octreotide LAR plus Metformin
22 Sirolimus in Treating Patients With Angiomyolipoma of the Kidney Unknown status NCT00126672 Phase 2 sirolimus
23 Rapamycin Therapy for Patients With Tuberous Sclerosis Complex and Sporadic LAM Completed NCT00457808 Phase 2 Rapamycin, sirolimus
24 Trial of RAD001 and Neurocognition in Tuberous Sclerosis Complex (TSC) Completed NCT01289912 Phase 2 RAD001;Placebo
25 Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers Completed NCT02104011 Phase 2 Propranolol
26 Everolimus (RAD001) Therapy for Epilepsy in Patients With Tuberous Sclerosis Complex (TSC) Completed NCT01070316 Phase 1, Phase 2 Everolimus
27 Everolimus (RAD001) Therapy of Giant Cell Astrocytoma in Patients With Tuberous Sclerosis Complex Completed NCT00411619 Phase 1, Phase 2 Everolimus
28 Long Term Follow Up for RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis (TSC) and Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00792766 Phase 1, Phase 2 everolimus (RAD001)
29 RAD001 Therapy of Angiomyolipomata in Patients With TS Complex and Sporadic LAM Completed NCT00457964 Phase 1, Phase 2 RAD001
30 Everolimus in Patients With Advanced Solid Malignancies With TSC1, TSC2, NF1, NF2, or STK11 Mutations Completed NCT02352844 Phase 2 Everolimus
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 Everolimus for Cancer With TSC1 or TSC2 Mutation Recruiting NCT02201212 Phase 2 Everolimus
35 Preventing Epilepsy Using Vigabatrin In Infants With Tuberous Sclerosis Complex Recruiting NCT02849457 Phase 2 Vigabatrin;Placebo
36 Sapanisertib in Treating Patients With Locally Advanced or Metastatic Bladder Cancer With TSC1 and/or TSC2 Mutations Recruiting NCT03047213 Phase 2 Sapanisertib
37 Topical Sirolimus Ointment for Cutaneous Angiofibromas in Subjects With Tuberous Sclerosis Complex Recruiting NCT03363763 Phase 2 Sirolimus 0.2%;Sirolimus 0.4%;Placebo ointment
38 Aspirin as an add-on Treatment of Refractory Epilepsy in Tuberous Sclerosis Complex Recruiting NCT03356769 Phase 2 Aspirin;AED;Placebo
39 Safety of Simvastatin in LAM and TSC Recruiting NCT02061397 Phase 1, Phase 2 Simvastatin
40 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
41 PI3K/mTOR Inhibitor LY3023414 in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With TSC or PI3K/MTOR Mutations (A Pediatric MATCH Treatment Trial) Recruiting NCT03213678 Phase 2 PI3K/mTOR Inhibitor LY3023414
42 Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders (The Pediatric MATCH Screening Trial) Recruiting NCT03155620 Phase 2 Ensartinib;Erdafitinib;Larotrectinib;Olaparib;Palbociclib;PI3K/mTOR Inhibitor LY3023414;Selumetinib Sulfate;Tazemetostat;Vemurafenib
43 Targeted Therapy Directed by Genetic Testing in Treating Patients With Advanced Refractory Solid Tumors, Lymphomas, or Multiple Myeloma (The MATCH Screening Trial) Recruiting NCT02465060 Phase 2 Adavosertib;Afatinib;Binimetinib;Capivasertib;Crizotinib;Dabrafenib;Dasatinib;Defactinib;FGFR Inhibitor AZD4547;Larotrectinib;Osimertinib;Palbociclib;PI3K-beta Inhibitor GSK2636771;Sapanisertib;Sunitinib Malate;Taselisib;Trametinib;Vismodegib
44 Adapting Treatment to the Tumor Molecular Alterations for Patients With Advanced Solid Tumors: My Own Specific Treatment Recruiting NCT02029001 Phase 2 Nilotinib (400 mg BID);Everolimus (10 mg QD);Sorafenib (400 mg BID);Lapatinib (1500 mg QD);Pazopanib (800 mg QD)
45 Canadian Profiling and Targeted Agent Utilization Trial (CAPTUR) Recruiting NCT03297606 Phase 2 Olaparib;Dasatinib;Nivolumab plus Ipilimumab;Afatinib;Axitinib;Bosutinib;Crizotinib;Palbociclib;Sunitinib;Temsirolimus;Erlotinib;Trastuzumab plus Pertuzumab;Vemurafenib plus Cobimetinib;Vismodegib
46 A Study of Everolimus in the Treatment of Neurocognitive Problems in Tuberous Sclerosis Active, not recruiting NCT01954693 Phase 2 Placebo;Everolimus (RAD001)
47 Phase II Trial of AZD2014 in TSC1/2 Mutated or TSC1/2 Null GC Patients as Second-line Chemotherapy Active, not recruiting NCT03082833 Phase 2 AZD2014
48 Phase II Trial of Vistusertib（AZD2014） Single Agent in TSC1or 2 Null or TSC 1/2 Mutation Solid Cancer Patients Refractory to Standard Chemotherapy Not yet recruiting NCT03166176 Phase 2 Vistusertib(AZD2014)
49 A Phase II Study of Orally Administered BEZ235 Monotherapy in Patients With Metastatic or Unresectable Malignant PEComa Withdrawn NCT01690871 Phase 2 BEZ235
50 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

Search NIH Clinical Center for Tuberous Sclerosis 1

Sources

Genetic Tests for Tuberous Sclerosis 1

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Genetic tests related to Tuberous Sclerosis 1:

# Genetic test Affiliating Genes
1 Tuberous Sclerosis 1 29 TSC1
Sources

Anatomical Context for Tuberous Sclerosis 1

About this section

MalaCards organs/tissues related to Tuberous Sclerosis 1:

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

Publications for Tuberous Sclerosis 1

About this section

Articles related to Tuberous Sclerosis 1:

(show top 50) (show all 846)
# Title Authors Year
1
Resective Surgery for Double Epileptic Foci Overlapping Anterior and Posterior Language Areas: A Case of Epilepsy With Tuberous Sclerosis Complex. ( 29867747 )
2018
2
Reply to "Renal Lesions in Lymphangioleiomyomatosis and Tuberous Sclerosis Complex Are Rarely Biologically Aggressive". ( 29469631 )
2018
3
Rhinencephalon changes in tuberous sclerosis complex. ( 29909560 )
2018
4
Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the <i>TSC1</i> and <i>TSC2</i> genes. ( 29932062 )
2018
5
Magnetic resonance imaging of tuberous sclerosis complex with or without epilepsy at 7A T. ( 29869697 )
2018
6
Tuberous Sclerosis Complex and Diffuse Lipomatosis: Case Report of a Rare Association. ( 29441296 )
2018
7
Persistence of self-injury, aggression and property destruction in children and adults with tuberous sclerosis complex. ( 29417652 )
2018
8
Genetic and imaging features of cerebellar abnormalities in tuberous sclerosis complex: more insights into their pathogenesis. ( 29882962 )
2018
9
Comparative Effects of Topical 0.2% Sirolimus for Angiofibromas in Adults and Pediatric Patients with Tuberous Sclerosis Complex. ( 29925060 )
2018
10
Tuberous sclerosis complex-associated CNS abnormalities depend on hyperactivation of mTORC1 and Akt. ( 29389670 )
2018
11
Secular changes in severity of intellectual disability in tuberous sclerosis complex: A reflection of improved identification and treatment of epileptic spasms? ( 29881807 )
2018
12
Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations. ( 29880258 )
2018
13
Clinical Course of Histologically Proven Multifocal Micronodular Pneumocyte Hyperplasia in Tuberous Sclerosis Complex: A Case Series and Comparison with Lymphangiomyomatosis. ( 29393256 )
2018
14
Molecular Characterization and Putative Pathogenic Pathways of Tuberous Sclerosis Complex-Associated Renal Cell Carcinoma. ( 29925043 )
2018
15
Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures? ( 29378663 )
2018
16
Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness. ( 29697822 )
2018
17
Renal manifestations of tuberous sclerosis complex: patients' and parents' knowledge and routines for renal follow-up - a questionnaire study. ( 29439672 )
2018
18
Deep phenotyping of patients with tuberous sclerosis complex and no mutation identified in Tsc1 and Tsc2. ( 29432982 )
2018
19
Tuberous sclerosis complex with Best's vitelliform macular dystrophy: A combined presentation. ( 29380781 )
2018
20
Sclerotic bone lesions as a potential imaging biomarker for the diagnosis of tuberous sclerosis complex. ( 29343816 )
2018
21
Retrospective study: Rapamycin or rapalog 0.1% cream for facial angiofibromas in Tuberous Sclerosis Complex: Evaluation of treatment effectiveness and cost. ( 29380350 )
2018
22
Refractory epilepsy in preschool children with tuberous sclerosis complex: Early surgical treatment and outcome. ( 29929109 )
2018
23
Bilateral Giant Renal Angiomyolipoma in a Patient with Tuberous Sclerosis Complex: A Case Report. ( 29686177 )
2018
24
Tuberous sclerosis complex: review based on new diagnostic criteria. ( 29924239 )
2018
25
Spontaneous reduction of native kidney size involving angiomyolipoma lesions in a kidney transplant recipient with tuberous sclerosis complex. ( 29417638 )
2018
26
Ictal signs in tuberous sclerosis complex: Clinical and video-EEG features in a large series of recorded seizures. ( 29906696 )
2018
27
Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings. ( 29926239 )
2018
28
Loss of tuberous sclerosis complex 2 sensitizes tumors to nelfinavir-bortezomib therapy to intensify endoplasmic reticulum stress-induced cell death. ( 29980790 )
2018
29
A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex. ( 29490614 )
2018
30
Antenatal screening and diagnosis of tuberous sclerosis complex by fetal echocardiography and targeted genomic sequencing. ( 29642139 )
2018
31
Decreased rates of cerebral protein synthesis measured in vivo in a mouse model of Tuberous Sclerosis Complex: unexpected consequences of reduced tuberin. ( 29364507 )
2018
32
Renal Lesions in Lymphangioleiomyomatosis and Tuberous Sclerosis Complex Are Rarely Biologically Aggressive. ( 29469627 )
2018
33
Pulmonary Lymphangiomyomatosis Associated with Renal and Hepatic Angiomyolipoma Mass in a Patient with Tuberous Sclerosis Complex. ( 29237943 )
2017
34
Chromophobe renal cell carcinoma-like thyroid carcinoma: A novel clinicopathologic entity possibly associated with tuberous sclerosis complex. ( 28680002 )
2017
35
Utility of the Autism Observation Scale for Infants in Early Identification of Autism in Tuberous Sclerosis Complex. ( 28844798 )
2017
36
Multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis complex: A case report without lymphangioleiomyomatosis association. ( 28550981 )
2017
37
Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment. ( 28808237 )
2017
38
Intermittent everolimus administration for renal angiomyolipoma associated with tuberous sclerosis complex. ( 28905429 )
2017
39
TSC2 c.1864C&amp;gt;T variant associated with mild cases of tuberous sclerosis complex. ( 28211972 )
2017
40
Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China. ( 28065512 )
2017
41
Unique findings of subependymal giant cell astrocytoma within cortical tubers in patients with tuberous sclerosis complex: a histopathological evaluation. ( 28074282 )
2017
42
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
43
Early Detection of Tuberous Sclerosis Complex: An Opportunity for Improved Neurodevelopmental Outcome. ( 28811058 )
2017
44
Linking tuberous sclerosis complex, excessive mTOR signaling, and age-related neurodegeneration: a new association between TSC1 mutation and frontotemporal dementia. ( 28828560 )
2017
45
Elevated Expression of TRPC4 in Cortical Lesions of Focal Cortical Dysplasia II and Tuberous Sclerosis Complex. ( 28455787 )
2017
46
Cerebellar lesions are associated with TSC2 mutations in tuberous sclerosis complex: a retrospective record review study. ( 28786492 )
2017
47
Everolimus long-term use in patients with tuberous sclerosis complex: Four-year update of the EXIST-2 study. ( 28792952 )
2017
48
Hyperactivated mTORC1 downregulation of FOXO3a/PDGFRI+/AKT cascade restrains tuberous sclerosis complex-associated tumor development. ( 28903387 )
2017
49
Everolimus for the Treatment of Tuberous Sclerosis Complex-Related Cardiac Rhabdomyomas in Pediatric Patients. ( 28888564 )
2017
50
Clinical and genetic analysis of tuberous sclerosis complex-associated renal angiomyolipoma in Chinese pedigrees. ( 29344138 )
2017
Sources

Variations for Tuberous Sclerosis 1

About this section

UniProtKB/Swiss-Prot genetic disease variations for Tuberous Sclerosis 1:

75
# Symbol AA change Variation ID SNP ID
1 TSC1 p.Leu191His VAR_009399 rs118203403
2 TSC1 p.Met224Arg VAR_009401 rs118203426
3 TSC1 p.Gln654Glu VAR_009407 rs75820036
4 TSC1 p.Ala726Glu VAR_009408 rs118203655
5 TSC1 p.Thr899Ser VAR_009412 rs76801599
6 TSC1 p.Leu72Pro VAR_054387 rs118203354
7 TSC1 p.Arg500Gln VAR_054391 rs118203538
8 TSC1 p.Leu117Pro VAR_070637 rs118203368
9 TSC1 p.Leu180Pro VAR_070643 rs118203396

ClinVar genetic disease variations for Tuberous Sclerosis 1:

6
(show top 50) (show all 1958)
# Gene Variation Type Significance SNP ID Assembly Location
1 TSC1 NM_000368.4(TSC1): c.1888_1891delAAAG (p.Lys630Glnfs) deletion Pathogenic rs118203595 GRCh37 Chromosome 9, 135781074: 135781077
2 TSC1 NM_000368.4(TSC1): c.1888_1891delAAAG (p.Lys630Glnfs) deletion Pathogenic rs118203595 GRCh38 Chromosome 9, 132905687: 132905690
3 TSC1 NM_000368.4(TSC1): c.749T> A (p.Leu250Ter) single nucleotide variant Pathogenic rs118203447 GRCh37 Chromosome 9, 135787833: 135787833
4 TSC1 NM_000368.4(TSC1): c.749T> A (p.Leu250Ter) single nucleotide variant Pathogenic rs118203447 GRCh38 Chromosome 9, 132912446: 132912446
5 TSC1 NM_000368.4(TSC1): c.1904_1905delCA (p.Thr635Argfs) deletion Pathogenic rs118203597 GRCh37 Chromosome 9, 135781060: 135781061
6 TSC1 NM_000368.4(TSC1): c.1904_1905delCA (p.Thr635Argfs) deletion Pathogenic rs118203597 GRCh38 Chromosome 9, 132905673: 132905674
7 TSC1 NM_000368.4(TSC1): c.671T> G (p.Met224Arg) single nucleotide variant Pathogenic rs118203426 GRCh37 Chromosome 9, 135796816: 135796816
8 TSC1 NM_000368.4(TSC1): c.671T> G (p.Met224Arg) single nucleotide variant Pathogenic rs118203426 GRCh38 Chromosome 9, 132921429: 132921429
9 TSC1 NM_000368.4(TSC1): c.539T> C (p.Leu180Pro) single nucleotide variant Pathogenic rs118203396 GRCh37 Chromosome 9, 135797330: 135797330
10 TSC1 NM_000368.4(TSC1): c.539T> C (p.Leu180Pro) single nucleotide variant Pathogenic rs118203396 GRCh38 Chromosome 9, 132921943: 132921943
11 TSC2 NM_000548.4(TSC2): c.4642delC (p.Leu1548Cysfs) deletion Pathogenic rs137854083 GRCh37 Chromosome 16, 2135303: 2135303
12 TSC2 NM_000548.4(TSC2): c.4642delC (p.Leu1548Cysfs) deletion Pathogenic rs137854083 GRCh38 Chromosome 16, 2085302: 2085302
13 TSC2 NM_000548.4(TSC2): c.5024C> T (p.Pro1675Leu) single nucleotide variant Pathogenic rs45483392 GRCh37 Chromosome 16, 2137898: 2137898
14 TSC2 NM_000548.4(TSC2): c.5024C> T (p.Pro1675Leu) single nucleotide variant Pathogenic rs45483392 GRCh38 Chromosome 16, 2087897: 2087897
15 TSC2 NM_000548.4(TSC2): c.34A> T (p.Lys12Ter) single nucleotide variant Pathogenic rs45512692 GRCh37 Chromosome 16, 2098650: 2098650
16 TSC2 NM_000548.4(TSC2): c.34A> T (p.Lys12Ter) single nucleotide variant Pathogenic rs45512692 GRCh38 Chromosome 16, 2048649: 2048649
17 TSC2 NM_000548.4(TSC2): c.2056_2059dupTACT (p.Ser687Leufs) duplication Pathogenic rs137854337 GRCh37 Chromosome 16, 2121894: 2121897
18 TSC2 NM_000548.4(TSC2): c.2056_2059dupTACT (p.Ser687Leufs) duplication Pathogenic rs137854337 GRCh38 Chromosome 16, 2071893: 2071896
19 TSC2 NM_000548.4(TSC2): c.1513C> T (p.Arg505Ter) single nucleotide variant Pathogenic rs45517179 GRCh37 Chromosome 16, 2114342: 2114342
20 TSC2 NM_000548.4(TSC2): c.1513C> T (p.Arg505Ter) single nucleotide variant Pathogenic rs45517179 GRCh38 Chromosome 16, 2064341: 2064341
21 TSC2 NM_000548.4(TSC2): c.1832G> A (p.Arg611Gln) single nucleotide variant Pathogenic rs28934872 GRCh37 Chromosome 16, 2120572: 2120572
22 TSC2 NM_000548.4(TSC2): c.1832G> A (p.Arg611Gln) single nucleotide variant Pathogenic rs28934872 GRCh38 Chromosome 16, 2070571: 2070571
23 TSC2 NM_000548.4(TSC2): c.2150T> G (p.Leu717Arg) single nucleotide variant Pathogenic rs45517214 GRCh37 Chromosome 16, 2122294: 2122294
24 TSC2 NM_000548.4(TSC2): c.2150T> G (p.Leu717Arg) single nucleotide variant Pathogenic rs45517214 GRCh38 Chromosome 16, 2072293: 2072293
25 TSC2 NM_000548.4(TSC2): c.1432C> T (p.Gln478Ter) single nucleotide variant Pathogenic rs121964862 GRCh37 Chromosome 16, 2113043: 2113043
26 TSC2 NM_000548.4(TSC2): c.1432C> T (p.Gln478Ter) single nucleotide variant Pathogenic rs121964862 GRCh38 Chromosome 16, 2063042: 2063042
27 TSC2 NM_000548.4(TSC2): c.1096G> T (p.Glu366Ter) single nucleotide variant Pathogenic rs45517148 GRCh37 Chromosome 16, 2110791: 2110791
28 TSC2 NM_000548.4(TSC2): c.1096G> T (p.Glu366Ter) single nucleotide variant Pathogenic rs45517148 GRCh38 Chromosome 16, 2060790: 2060790
29 TSC2 NM_000548.4(TSC2): c.5238_5255del18 (p.His1746_Arg1751del) deletion Pathogenic rs137854218 GRCh37 Chromosome 16, 2138305: 2138322
30 TSC2 NM_000548.4(TSC2): c.5238_5255del18 (p.His1746_Arg1751del) deletion Pathogenic rs137854218 GRCh38 Chromosome 16, 2088304: 2088321
31 TSC2 NM_000548.4(TSC2): c.2714G> A (p.Arg905Gln) single nucleotide variant Pathogenic rs45517259 GRCh37 Chromosome 16, 2126143: 2126143
32 TSC2 NM_000548.4(TSC2): c.2714G> A (p.Arg905Gln) single nucleotide variant Pathogenic rs45517259 GRCh38 Chromosome 16, 2076142: 2076142
33 TSC2 NM_000548.4(TSC2): c.2713C> T (p.Arg905Trp) single nucleotide variant Pathogenic rs45517258 GRCh37 Chromosome 16, 2126142: 2126142
34 TSC2 NM_000548.4(TSC2): c.2713C> T (p.Arg905Trp) single nucleotide variant Pathogenic rs45517258 GRCh38 Chromosome 16, 2076141: 2076141
35 TSC2 NM_000548.4(TSC2): c.2713C> G (p.Arg905Gly) single nucleotide variant Pathogenic rs45517258 GRCh37 Chromosome 16, 2126142: 2126142
36 TSC2 NM_000548.4(TSC2): c.2713C> G (p.Arg905Gly) single nucleotide variant Pathogenic rs45517258 GRCh38 Chromosome 16, 2076141: 2076141
37 TSC2 NM_000548.4(TSC2): c.2355+2_2355+5delTAGG deletion Pathogenic rs137854250 GRCh37 Chromosome 16, 2122986: 2122989
38 TSC2 NM_000548.4(TSC2): c.2355+2_2355+5delTAGG deletion Pathogenic rs137854250 GRCh38 Chromosome 16, 2072985: 2072988
39 TSC2 NM_000548.4(TSC2): c.1322G> A (p.Trp441Ter) single nucleotide variant Pathogenic rs45515894 GRCh37 Chromosome 16, 2112562: 2112562
40 TSC2 NM_000548.4(TSC2): c.1322G> A (p.Trp441Ter) single nucleotide variant Pathogenic rs45515894 GRCh38 Chromosome 16, 2062561: 2062561
41 TSC1 NM_000368.4(TSC1): c.1152delA (p.Gly385Glufs) deletion Pathogenic rs118203501 GRCh37 Chromosome 9, 135786069: 135786069
42 TSC1 NM_000368.4(TSC1): c.1152delA (p.Gly385Glufs) deletion Pathogenic rs118203501 GRCh38 Chromosome 9, 132910682: 132910682
43 TSC1 NM_000368.4(TSC1): c.1257delC (p.Arg420Glyfs) deletion Pathogenic rs118203506 GRCh37 Chromosome 9, 135785964: 135785964
44 TSC1 NM_000368.4(TSC1): c.1257delC (p.Arg420Glyfs) deletion Pathogenic rs118203506 GRCh38 Chromosome 9, 132910577: 132910577
45 TSC1 NM_000368.4(TSC1): c.1431_1434delAGAA (p.Glu478Lysfs) deletion Pathogenic rs118203527 GRCh37 Chromosome 9, 135782122: 135782125
46 TSC1 NM_000368.4(TSC1): c.1431_1434delAGAA (p.Glu478Lysfs) deletion Pathogenic rs118203527 GRCh38 Chromosome 9, 132906735: 132906738
47 TSC1 NM_000368.4(TSC1): c.1498C> T (p.Arg500Ter) single nucleotide variant Pathogenic rs118203537 GRCh37 Chromosome 9, 135781467: 135781467
48 TSC1 NM_000368.4(TSC1): c.1498C> T (p.Arg500Ter) single nucleotide variant Pathogenic rs118203537 GRCh38 Chromosome 9, 132906080: 132906080
49 TSC1 NM_000368.4(TSC1): c.1525C> T (p.Arg509Ter) single nucleotide variant Pathogenic rs118203542 GRCh37 Chromosome 9, 135781440: 135781440
50 TSC1 NM_000368.4(TSC1): c.1525C> T (p.Arg509Ter) single nucleotide variant Pathogenic rs118203542 GRCh38 Chromosome 9, 132906053: 132906053
Sources

Expression for Tuberous Sclerosis 1

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Search GEO for disease gene expression data for Tuberous Sclerosis 1.
Sources

Pathways for Tuberous Sclerosis 1

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Pathways related to Tuberous Sclerosis 1 according to KEGG:

37
# Name Kegg Source Accession
1 p53 signaling pathway hsa04115
2 mTOR signaling pathway hsa04150
3 Insulin signaling pathway hsa04910

Pathways related to Tuberous Sclerosis 1 according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Cellular senescence (KEGG) 37
11.76 TSC1 TSC2
2
Integrated Breast Cancer Pathway 1
11.74 TSC1 TSC2
3
Longevity regulating pathway 37
Show member pathways
 11.72 TSC1 TSC2
4
Autophagy Pathway 65
Show member pathways
 11.7 TSC1 TSC2
5
Autophagy - animal 37
11.62 TSC1 TSC2
6
Development IGF-1 receptor signaling 22
Show member pathways
 11.6 TSC1 TSC2
7
MAPK Signaling: Mitogen Stimulation Pathway 65
Show member pathways
 11.59 TSC1 TSC2
8
Glioblastoma Multiforme 64
11.52 TSC1 TSC2
9
PI3K / Akt Signaling 4
11.42 TSC1 TSC2
10
TP53 Regulates Metabolic Genes 66
11.36 TSC1 TSC2
11
mTOR signaling pathway (Pathway Interaction Database) 1
11.15 TSC1 TSC2
12
Translational Control 4
11.08 RPL7A TSC1 TSC2
13
Wnt Signaling Pathway Netpath 1
11.05 TSC1 TSC2
14
TBC/RABGAPs 66
10.93 TSC1 TSC2
15
LKB1 signaling events 1
10.78 TSC1 TSC2
16
BDNF-TrkB Signaling 1
10.49 TSC1 TSC2
Sources

GO Terms for Tuberous Sclerosis 1

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Cellular components related to Tuberous Sclerosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 TSC1-TSC2 complex GO:0033596 8.62 TSC1 TSC2

Biological processes related to Tuberous Sclerosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell cycle arrest GO:0007050 9.37 TSC1 TSC2
2 regulation of cell cycle GO:0051726 9.32 TSC1 TSC2
3 neural tube closure GO:0001843 9.26 TSC1 TSC2
4 negative regulation of TOR signaling GO:0032007 9.16 TSC1 TSC2
5 negative regulation of insulin receptor signaling pathway GO:0046627 8.96 TSC1 TSC2
6 positive regulation of macroautophagy GO:0016239 8.62 TSC1 TSC2

Molecular functions related to Tuberous Sclerosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Hsp90 protein binding GO:0051879 8.62 TSC1 TSC2
Sources

Sources for Tuberous Sclerosis 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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