TSC1
MCID: TBR025
MIFTS: 72

Tuberous Sclerosis 1 (TSC1)

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

Aliases & Classifications for Tuberous Sclerosis 1

MalaCards integrated aliases for Tuberous Sclerosis 1:

Name: Tuberous Sclerosis 1 57 12 75 29 6 15 73
Tuberous Sclerosis Complex 57 76 24 25 59 75 37
Tuberous Sclerosis, Type 1 76 53 40
Bourneville Syndrome 53 59 75
Tuberous Sclerosis 59 75 73
Tuberous Sclerosis-1 57 13
Bourneville Disease 24 25
Tuberose Sclerosis 57 25
Tsc1 57 75
Ts 57 75
Tuberous Sclerosis Complex; Tsc 57
Bourneville Phakomatosis 25
Tuberose Sclerosis; Ts 57
Bourneville's Syndrome 53
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


GeneReviews:

24
Penetrance After detailed evaluation of each individual known to have a tsc1 or tsc2 pathogenic variant, the penetrance of tsc is now thought to be 100%. rare instances of apparent non-penetrance have been reported; however, molecular studies revealed the presence of two different pathogenic variants in the family and the existence of germline mosaicism in others [connor et al 1986, webb & osborne 1991, rose et al 1999]...

Classifications:



Summaries for Tuberous Sclerosis 1

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 lymphangioleiomyomatosis and tuberous sclerosis, and has symptoms including seizures, tremor and back 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 Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and kidney, and related phenotypes are hypothyroidism and precocious puberty

Disease Ontology : 12 A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has material basis in heterozygous mutation in the TSC1 gene on chromosome 9q34.

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.

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.

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

GeneReviews: NBK1220

Related Diseases for Tuberous Sclerosis 1

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 416)
# Related Disease Score Top Affiliating Genes
1 lymphangioleiomyomatosis 32.6 TSC2 TSC1 MTOR
2 tuberous sclerosis 32.4 TSC2 TSC1 RHEB MTOR CCL26
3 cystic kidney disease 32.2 TSC2 TSC1 CCL26
4 focal cortical dysplasia, type ii 32.0 TSC2 TSC1 MTOR
5 polycystic kidney disease 1 with or without polycystic liver disease 31.8 TSC2 TSC1 MTOR
6 congenital heart defects, hamartomas of tongue, and polysyndactyly 31.7 TSC2 TSC1 CCL26
7 subependymal giant cell astrocytoma 31.7 TSC2 TSC1 MTOR
8 lissencephaly with cerebellar hypoplasia 31.7 TSC2 TSC1
9 angiomyolipoma 31.6 TSC2 TSC1 MTOR CCL26
10 corneal dystrophy, fleck 31.6 TSC2 TSC1
11 subependymal glioma 31.6 TSC2 TSC1 MTOR
12 benign ependymoma 31.6 TSC2 TSC1 MTOR
13 benign glioma 31.6 TSC2 TSC1 MTOR
14 tuberous sclerosis 2 31.6 TSC2 TSC1 MTOR
15 focal epilepsy 31.5 TSC2 TSC1 MTOR
16 adult hepatocellular carcinoma 31.5 TSC2 TSC1
17 kidney angiomyolipoma 31.5 TSC2 TSC1 RHEB MTOR
18 autosomal dominant polycystic kidney disease 31.5 TSC2 TSC1 MTOR
19 hepatic angiomyolipoma 30.2 TSC2 MTOR
20 renal cell carcinoma, nonpapillary 29.5 TSC2 TSC1 MTOR
21 sudanophilic cerebral sclerosis 12.3
22 cerebral sclerosis similar to pelizaeus-merzbacher disease 12.1
23 gilles de la tourette syndrome 12.1
24 cerebral sclerosis, diffuse, scholz type 12.1
25 turner syndrome 11.9
26 adrenoleukodystrophy 11.8
27 metachromatic leukodystrophy 11.7
28 virus-associated trichodysplasia spinulosa 11.7
29 lennox-gastaut syndrome 11.6
30 bladder cancer 11.5
31 tumefactive multiple sclerosis 11.5
32 epilepsy 11.5
33 insulinoma 11.5
34 myelinoclastic diffuse sclerosis 11.4
35 epileptic encephalopathy, childhood-onset 11.3
36 gitelman syndrome 11.3
37 renal oncocytoma 11.2
38 timothy syndrome 11.2
39 mitochondrial dna depletion syndrome 4a 11.2
40 lung disease 11.2
41 trichostasis spinulosa 11.2
42 peutz-jeghers syndrome 11.2
43 autism 11.2
44 polycystic kidney disease, infantile severe, with tuberous sclerosis 11.2
45 temperature sensitivity complementation, cell cycle specific, k12 11.2
46 spinal cancer 11.1
47 autosomal dominant café au lait spots 11.1
48 pilocytic astrocytoma 11.1
49 soft tissue sarcoma 11.1
50 brain and spinal tumors 11.1

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



Diseases related to Tuberous Sclerosis 1

Symptoms & Phenotypes for Tuberous Sclerosis 1

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:


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

GenomeRNAi Phenotypes related to Tuberous Sclerosis 1 according to GeneCards Suite gene sharing:

26 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.16 MTOR RHEB
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.16 ALDOA CCL26 MTOR RHEB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.16 CCL26
4 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.16 ALDOA
5 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.16 ALDOA
6 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.16 ALDOA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.16 ALDOA
8 Increased shRNA abundance (Z-score > 2) GR00366-A-156 10.16 CCL26
9 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.16 MTOR RHEB
10 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.16 CCL26
11 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.16 ALDOA CCL26
12 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.16 CCL26
13 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10.16 ALDOA
14 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.16 ALDOA
15 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.16 ALDOA
16 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.16 MTOR RHEB
17 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.16 RHEB
18 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.16 CCL26 RHEB
19 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.16 CCL26
20 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.16 MTOR
21 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10.16 CCL26
22 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.16 ALDOA MTOR
23 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.16 CCL26
24 Reduced mammosphere formation GR00396-S 9.02 ALDOA COL5A1 MTOR RHEB RPTOR

MGI Mouse Phenotypes related to Tuberous Sclerosis 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.76 ARHGEF28 COL5A1 MTOR RHEB RPS6KB2 RPTOR
2 embryo MP:0005380 9.73 COL5A1 MTOR RHEB RPTOR TSC1 TSC2
3 normal MP:0002873 9.43 ARHGEF28 COL5A1 MTOR RHEB RPS6KB2 TSC2
4 reproductive system MP:0005389 9.1 ARHGEF28 MCF2 RPS6KB2 RPTOR TSC1 TSC2

Drugs & Therapeutics for Tuberous Sclerosis 1

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

(show top 50) (show all 114)
# 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
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 53123-88-9 46835353 6436030 5284616
3
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 22916-47-8 4189
4
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
5
Vigabatrin Approved Phase 4,Phase 2 60643-86-9, 68506-86-5 5665
6 Immunologic Factors Phase 4,Phase 2,Phase 3,Phase 1
7 Antibiotics, Antitubercular Phase 4,Phase 2,Phase 3,Phase 1
8 Anti-Bacterial Agents Phase 4,Phase 2,Phase 3,Phase 1
9 Antifungal Agents Phase 4,Phase 2,Phase 3,Phase 1
10 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
11 Immunosuppressive Agents Phase 4,Phase 2,Phase 3,Phase 1
12 Anticonvulsants Phase 4,Phase 2,Not Applicable
13 Antiparasitic Agents Phase 4
14 Antiprotozoal Agents Phase 4
15 Antimalarials Phase 4
16 Neurotransmitter Agents Phase 4,Phase 2
17 GABA Agents Phase 4,Phase 2
18
Ethanol Approved Phase 3 64-17-5 702
19 Strawberry Approved Phase 3
20
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 5280453 134070
21
Melatonin Approved, Nutraceutical, Vet_approved Phase 3,Phase 1 73-31-4 896
22 Calcium, Dietary Phase 3
23 Trace Elements Phase 3
24 Micronutrients Phase 3
25 Vitamins Phase 3
26 Bone Density Conservation Agents Phase 3
27 Vasoconstrictor Agents Phase 3
28 Antioxidants Phase 3,Phase 1,Not Applicable
29 Protective Agents Phase 3,Phase 1,Not Applicable
30 Central Nervous System Depressants Phase 3,Phase 1
31 Pharmaceutical Solutions Phase 3,Phase 2
32
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
33
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
34
Metformin Approved Phase 2 657-24-9 14219 4091
35
Propranolol Approved, Investigational Phase 2 525-66-6 4946
36 tannic acid Approved Phase 2
37
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
38
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
39
Vemurafenib Approved Phase 2 918504-65-1 23252090 42611257
40
Olaparib Approved Phase 2 763113-22-0 23725625
41
Palbociclib Approved, Investigational Phase 2 571190-30-2 11431660 5330286 5005498
42
Pertuzumab Approved Phase 2 145040-37-5, 380610-27-5 2540
43
Osimertinib Approved Phase 2 1421373-65-0
44
Adenosine Approved, Investigational Phase 2 58-61-7 60961
45
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
46
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
47
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
48
Trametinib Approved Phase 2 871700-17-3 11707110
49
Nivolumab Approved Phase 2 946414-94-4
50
Crizotinib Approved Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141

Interventional clinical trials:

(show top 50) (show all 79)
# 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 Long-term Trial of Topical Sirolimus to Angiofibroma in Patient With Tuberous Sclerosis Complex Unknown status NCT02634931 Phase 3 NPC-12G gel
8 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
9 A Placebo-controlled Study of Efficacy & Safety of 2 Trough-ranges of Everolimus as Adjunctive Therapy in Patients With Tuberous Sclerosis Complex (TSC) & Refractory Partial-onset Seizures Completed NCT01713946 Phase 3 RAD001;Placebo;Antiepileptic drug (1 to 3 only);open label RAD001 (only used for post-extension phase)
10 Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00790400 Phase 3 Everolimus (RAD001);Everolimus Placebo
11 Phase III Trial of Topical Formulation of Sirolimus to Skin Lesions in Patients With Tuberous Sclerosis Complex (TSC) Completed NCT02635789 Phase 3 NPC-12G gel;Placebo gel
12 Topical Rapamycin and Calcitriol for Angiofibroma of Tuberous Sclerosis Completed NCT03140449 Phase 3 Rapamycin;Calcitriol;Rapamycin-calcitriol combination
13 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
14 Roll-over Study to Collect and Assess Long-term Safety of Everolimus in Patients With TSC and Refractory Seizures Who Have Completed the EXIST-3 Study [CRAD001M2304] and Who Are Benefitting From Continued Treatment Recruiting NCT02962414 Phase 3 everolimus
15 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 An Open-label Extension Trial of Cannabidiol (GWP42003-P, CBD) for Seizures in Tuberous Sclerosis Complex (GWPCARE6) Enrolling by invitation NCT02544750 Phase 3 GWP42003-P
17 Topical Everolimus in Patients With Tuberous Sclerosis Complex Not yet recruiting NCT02860494 Phase 2, Phase 3 Everolimus;Placebo
18 Trial of Efficacy and Safety of Sirolimus in Tuberous Sclerosis and LAM Unknown status NCT00490789 Phase 2 sirolimus
19 Single Arm Trial With Combination of Everolimus and Letrozole in Treatment of Platinum Resistant Relapse or Refractory or Persistent Ovarian Cancer/Endometrial Cancer Unknown status NCT02188550 Phase 2 everolimus and letrozole
20 Activity and Safety of Everolimus+Octreotide LAR+Metformin in Advanced Pancreatic Well-differentiated NETs Unknown status NCT02294006 Phase 2 Everolimus plus Octreotide LAR plus Metformin
21 Sirolimus in Treating Patients With Angiomyolipoma of the Kidney Unknown status NCT00126672 Phase 2 sirolimus
22 Rapamycin Therapy for Patients With Tuberous Sclerosis Complex and Sporadic LAM Completed NCT00457808 Phase 2 Rapamycin, sirolimus
23 Trial of RAD001 and Neurocognition in Tuberous Sclerosis Complex (TSC) Completed NCT01289912 Phase 2 RAD001;Placebo
24 Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers Completed NCT02104011 Phase 2 Propranolol
25 Everolimus (RAD001) Therapy for Epilepsy in Patients With Tuberous Sclerosis Complex (TSC) Completed NCT01070316 Phase 1, Phase 2 Everolimus
26 Everolimus (RAD001) Therapy of Giant Cell Astrocytoma in Patients With Tuberous Sclerosis Complex Completed NCT00411619 Phase 1, Phase 2 Everolimus
27 Long Term Follow Up for RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis (TSC) and Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00792766 Phase 1, Phase 2 everolimus (RAD001)
28 RAD001 Therapy of Angiomyolipomata in Patients With TS Complex and Sporadic LAM Completed NCT00457964 Phase 1, Phase 2 RAD001
29 Everolimus in Patients With Advanced Solid Malignancies With TSC1, TSC2, NF1, NF2, or STK11 Mutations Completed NCT02352844 Phase 2 Everolimus
30 Topical Rapamycin to Erase Angiofibromas in TSC Completed NCT01526356 Phase 2 Placebo;Rapamycin;Rapamycin
31 Rapalogues for Autism Phenotype in TSC: A Feasibility Study Completed NCT01929642 Phase 2 Sirolimus;Everolimus
32 Preventing Epilepsy Using Vigabatrin In Infants With Tuberous Sclerosis Complex Recruiting NCT02849457 Phase 2 Vigabatrin;Placebo
33 Sapanisertib in Treating Patients With Locally Advanced or Metastatic Bladder Cancer With TSC1 and/or TSC2 Mutations Recruiting NCT03047213 Phase 2 Sapanisertib
34 Topical Sirolimus Ointment for Cutaneous Angiofibromas in Subjects With Tuberous Sclerosis Complex Recruiting NCT03363763 Phase 2 Sirolimus 0.2%;Sirolimus 0.4%;Placebo ointment
35 Aspirin as an add-on Treatment of Refractory Epilepsy in Tuberous Sclerosis Complex Recruiting NCT03356769 Phase 2 Aspirin;AED;Placebo
36 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
37 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
38 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;Ulixertinib;Vemurafenib
39 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
40 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
41 Canadian Profiling and Targeted Agent Utilization Trial (CAPTUR) Recruiting NCT03297606 Phase 2 Olaparib;Dasatinib;Nivolumab plus Ipilimumab;Axitinib;Bosutinib;Crizotinib;Palbociclib;Sunitinib;Temsirolimus;Erlotinib;Trastuzumab plus Pertuzumab;Vemurafenib plus Cobimetinib;Vismodegib
42 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);Olaparib (300 mg BID)
43 A Study of Everolimus in the Treatment of Neurocognitive Problems in Tuberous Sclerosis Active, not recruiting NCT01954693 Phase 2 Placebo;Everolimus (RAD001)
44 Everolimus for Cancer With TSC1 or TSC2 Mutation Active, not recruiting NCT02201212 Phase 2 Everolimus
45 Safety of Simvastatin in LAM and TSC Active, not recruiting NCT02061397 Phase 1, Phase 2 Simvastatin
46 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
47 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)
48 A Phase II Study of Orally Administered BEZ235 Monotherapy in Patients With Metastatic or Unresectable Malignant PEComa Withdrawn NCT01690871 Phase 2 BEZ235
49 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
50 Tuberous Sclerosis Complex: Facial Angiofibroma Skin Cream Completed NCT01853423 Phase 1 Rapamune

Search NIH Clinical Center for Tuberous Sclerosis 1

Genetic Tests for Tuberous Sclerosis 1

Genetic tests related to Tuberous Sclerosis 1:

# Genetic test Affiliating Genes
1 Tuberous Sclerosis 1 29 TSC1

Anatomical Context for Tuberous Sclerosis 1

MalaCards organs/tissues related to Tuberous Sclerosis 1:

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

Publications for Tuberous Sclerosis 1

Articles related to Tuberous Sclerosis 1:

(show top 50) (show all 1240)
# 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
Corrigendum to &amp;quot;Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex&amp;quot; [Mol. Genet. Metab. 120(4) (Apr 2017) 384-391]. ( 29325814 )
2018
30
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
31
Antenatal screening and diagnosis of tuberous sclerosis complex by fetal echocardiography and targeted genomic sequencing. ( 29642139 )
2018
32
Decreased rates of cerebral protein synthesis measured in vivo in a mouse model of Tuberous Sclerosis Complex: unexpected consequences of reduced tuberin. ( 29364507 )
2018
33
Renal Lesions in Lymphangioleiomyomatosis and Tuberous Sclerosis Complex Are Rarely Biologically Aggressive. ( 29469627 )
2018
34
Tuberous sclerosis complex-mediated mTORC1 overactivation promotes age-related hearing loss. ( 30247156 )
2018
35
miR-9-5p, miR-124-3p, and miR-132-3p regulate BCL2L11 in tuberous sclerosis complex angiomyolipoma. ( 29540858 )
2018
36
Assessing the outcomes of everolimus on renal angiomyolipoma associated with tuberous sclerosis complex in China: a two years trial. ( 29587809 )
2018
37
Postembolization Intratumoral Chronic Bleeding, without the Classic CT Feature of Active Extravasation, in Tuberous Sclerosis Complex-Related Renal Angiomyolipoma: Two Case Reports. ( 29998126 )
2018
38
Selective Arterial Embolization of Giant Renal Angiomyolipoma Associated with Tuberous Sclerosis Complex Using Particular and Liquid Embolic Agents. ( 30002583 )
2018
39
Genotype-phenotype correlation of patients with tuberous sclerosis complex-associated renal angiomyolipoma: a descriptive study. ( 30036593 )
2018
40
Effect of everolimus treatment for regrown renal angiomyolipoma associated with tuberous sclerosis complex after transcatheter arterial embolization. ( 30069798 )
2018
41
Angiomyolipoma rebound tumor growth after discontinuation of everolimus in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis. ( 30192751 )
2018
42
Correction: miR-9-5p, miR-124-3p, and miR-132-3p regulate BCL2L11 in tuberous sclerosis complex angiomyolipoma. ( 30337693 )
2018
43
Observational study of characteristics and clinical outcomes of Dutch patients with tuberous sclerosis complex and renal angiomyolipoma treated with everolimus. ( 30439947 )
2018
44
Continuous low-dose everolimus shrinkage tuberous sclerosis complex-associated renal angiomyolipoma: a 48-month follow-up study. ( 30455224 )
2018
45
Everolimus compliance and persistence among tuberous sclerosis complex patients with renal angiomyolipoma or subependymal giant cell astrocytoma. ( 30550347 )
2018
46
Optic nerve giant cell astrocytoma in tuberous sclerosis complex. ( 30119812 )
2018
47
The level of microRNA 21 is upregulated by rapamycin in serum of tuberous sclerosis complex patients and subependymal giant cell astrocytoma (SEGA)-derived cell cultures. ( 30509037 )
2018
48
OPTIC DISK ASTROCYTOMA UNASSOCIATED WITH TUBEROUS SCLEROSIS COMPLEX MANAGED WITH SURGICAL EXCISION AND A 7-YEAR FOLLOW-UP. ( 30531252 )
2018
49
Everolimus for epilepsy and autism spectrum disorder in tuberous sclerosis complex: EXIST-3 substudy in Japan. ( 30060984 )
2018
50
Unilateral cataract associated with eyelid ash-leaf macule in tuberous sclerosis complex. ( 30219777 )
2018

Variations for Tuberous Sclerosis 1

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 6084)
# 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.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_000548.4(TSC2): c.5024C> T (p.Pro1675Leu) single nucleotide variant Pathogenic rs45483392 GRCh37 Chromosome 16, 2137898: 2137898
18 TSC2 NM_000548.4(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_2059dupTACT (p.Ser687Leufs) duplication Pathogenic rs137854337 GRCh37 Chromosome 16, 2121894: 2121897
22 TSC2 NM_000548.4(TSC2): c.2056_2059dupTACT (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_000548.4(TSC2): c.1832G> A (p.Arg611Gln) single nucleotide variant Pathogenic rs28934872 GRCh37 Chromosome 16, 2120572: 2120572
26 TSC2 NM_000548.4(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_000548.4(TSC2): c.1096G> T (p.Glu366Ter) single nucleotide variant Pathogenic rs45517148 GRCh37 Chromosome 16, 2110791: 2110791
32 TSC2 NM_000548.4(TSC2): c.1096G> T (p.Glu366Ter) single nucleotide variant Pathogenic rs45517148 GRCh38 Chromosome 16, 2060790: 2060790
33 TSC2 NM_000548.4(TSC2): c.4508A> C (p.Gln1503Pro) single nucleotide variant Pathogenic/Likely pathogenic rs45516293 GRCh37 Chromosome 16, 2134966: 2134966
34 TSC2 NM_000548.4(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_5255del18 (p.His1746_Arg1751del) deletion Pathogenic rs137854218 GRCh37 Chromosome 16, 2138305: 2138322
36 TSC2 NM_000548.4(TSC2): c.5238_5255del18 (p.His1746_Arg1751del) deletion Pathogenic rs137854218 GRCh38 Chromosome 16, 2088304: 2088321
37 TSC2 NM_000548.4(TSC2): c.2714G> A (p.Arg905Gln) single nucleotide variant Pathogenic rs45517259 GRCh37 Chromosome 16, 2126143: 2126143
38 TSC2 NM_000548.4(TSC2): c.2714G> A (p.Arg905Gln) single nucleotide variant Pathogenic rs45517259 GRCh38 Chromosome 16, 2076142: 2076142
39 TSC2 NM_000548.4(TSC2): c.2713C> T (p.Arg905Trp) single nucleotide variant Pathogenic rs45517258 GRCh37 Chromosome 16, 2126142: 2126142
40 TSC2 NM_000548.4(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+5delTAGG deletion Pathogenic rs137854250 GRCh37 Chromosome 16, 2122986: 2122989
44 TSC2 NM_000548.4(TSC2): c.2355+2_2355+5delTAGG 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

Expression for Tuberous Sclerosis 1

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

Pathways for Tuberous Sclerosis 1

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 48)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 CCL26 COL5A1 MTOR RHEB RPTOR TSC1
2
Show member pathways
13.42 MTOR RHEB RPS6KB2 RPTOR TSC1 TSC2
3
Show member pathways
13.01 MTOR RHEB RPTOR TSC1 TSC2
4
Show member pathways
12.93 MTOR RHEB RPS6KB2 TSC1 TSC2
5
Show member pathways
12.93 MTOR RHEB RPTOR TSC1 TSC2
6
Show member pathways
12.91 MTOR RHEB RPS6KB2 RPTOR TSC1 TSC2
7
Show member pathways
12.86 MTOR RHEB RPTOR TSC1 TSC2
8
Show member pathways
12.83 MTOR RHEB RPS6KB2 RPTOR TSC1 TSC2
9
Show member pathways
12.74 MTOR RHEB RPS6KB2 TSC2
10
Show member pathways
12.65 MTOR RPS6KB2 TSC1 TSC2
11
Show member pathways
12.56 MTOR RHEB RPS6KB2 TSC2
12
Show member pathways
12.47 MTOR RHEB RPS6KB2 RPTOR TSC1 TSC2
13
Show member pathways
12.42 MTOR RHEB RPS6KB2 RPTOR TSC1 TSC2
14
Show member pathways
12.36 MTOR RHEB RPTOR TSC1 TSC2
15
Show member pathways
12.34 MTOR RHEB RPS6KB2 TSC1 TSC2
16
Show member pathways
12.32 MTOR RHEB TSC1 TSC2
17
Show member pathways
12.3 MTOR RHEB RPS6KB2 RPTOR TSC1 TSC2
18
Show member pathways
12.23 MTOR RPS6KB2 TSC1 TSC2
19 12.23 MTOR RPS6KB2 RPTOR TSC1 TSC2
20
Show member pathways
12.15 MTOR RPTOR TSC1 TSC2
21 12.12 MTOR RHEB TSC1 TSC2
22
Show member pathways
12.11 MTOR RHEB RPTOR TSC1 TSC2
23 12.09 MTOR RHEB TSC1 TSC2
24
Show member pathways
12.09 MTOR RHEB RPS6KB2 RPTOR TSC1 TSC2
25
Show member pathways
12.01 MTOR RHEB TSC2
26
Show member pathways
11.98 MTOR RHEB RPS6KB2 TSC2
27 11.9 MTOR RHEB TSC2
28 11.89 MTOR RHEB RPS6KB2 RPTOR TSC1 TSC2
29 11.88 MTOR TSC1 TSC2
30 11.84 RHEB RPS6KB2 TSC1 TSC2
31 11.83 ALDOA MTOR RPS6KB2
32
Show member pathways
11.75 MTOR RPS6KB2 TSC2
33 11.65 MTOR RHEB RPTOR TSC1 TSC2
34
Show member pathways
11.61 MTOR RHEB RPS6KB2 RPTOR TSC1 TSC2
35 11.53 MTOR TSC1 TSC2
36 11.45 MTOR RPTOR TSC1 TSC2
37 11.37 TSC1 TSC2
38 11.36 MTOR TSC2
39 11.36 ARHGEF28 MCF2
40 11.34 MTOR RHEB RPTOR TSC1 TSC2
41 11.33 MTOR RHEB TSC1 TSC2
42
Show member pathways
11.29 MTOR RPTOR
43 11.25 MTOR RPTOR
44 11.23 MTOR RHEB RPTOR TSC2
45 11.21 MTOR RHEB RPS6KB2 RPTOR TSC1 TSC2
46 11.1 MTOR RHEB RPS6KB2 TSC2
47 10.93 MTOR TSC1
48 10.85 MTOR RPTOR

GO Terms for Tuberous Sclerosis 1

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.92 ALDOA ARHGEF28 MCF2 MTOR RHEB RPTOR
2 cytoplasm GO:0005737 9.81 ALDOA ARHGEF28 MCF2 MTOR RHEB RPS6KB2
3 postsynaptic density GO:0014069 9.43 RHEB TSC1 TSC2
4 TORC1 complex GO:0031931 8.96 MTOR RPTOR
5 TSC1-TSC2 complex GO:0033596 8.62 TSC1 TSC2

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cell cycle arrest GO:0007050 9.67 MTOR RHEB RPTOR
2 regulation of cellular response to heat GO:1900034 9.59 MTOR RPTOR
3 protein kinase B signaling GO:0043491 9.58 RPS6KB2 TSC2
4 negative regulation of TOR signaling GO:0032007 9.58 TSC1 TSC2
5 negative regulation of insulin receptor signaling pathway GO:0046627 9.57 TSC1 TSC2
6 positive regulation of macroautophagy GO:0016239 9.56 TSC1 TSC2
7 positive regulation of TOR signaling GO:0032008 9.55 RHEB RPTOR
8 regulation of protein kinase activity GO:0045859 9.54 MTOR TSC1
9 regulation of cell size GO:0008361 9.52 MTOR RPTOR
10 positive regulation of oligodendrocyte differentiation GO:0048714 9.51 MTOR RHEB
11 TOR signaling GO:0031929 9.48 MTOR RPTOR
12 negative regulation of macroautophagy GO:0016242 9.46 MTOR TSC1
13 cellular response to nutrient levels GO:0031669 9.43 MTOR RPTOR
14 anoikis GO:0043276 9.4 MTOR TSC2
15 positive regulation of transcription by RNA polymerase III GO:0045945 9.37 MTOR RPTOR
16 cellular response to leucine GO:0071233 9.32 MTOR RPTOR
17 negative regulation of cell size GO:0045792 9.26 MTOR TSC1
18 TORC1 signaling GO:0038202 9.16 MTOR RPTOR
19 positive regulation of endothelial cell proliferation GO:0001938 9.13 CCL26 MTOR RPTOR
20 regulation of macroautophagy GO:0016241 8.8 MTOR RHEB RPTOR

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 9.32 TSC1 TSC2
2 RNA polymerase III type 3 promoter DNA binding GO:0001032 9.26 MTOR RPTOR
3 RNA polymerase III type 1 promoter DNA binding GO:0001030 9.16 MTOR RPTOR
4 RNA polymerase III type 2 promoter DNA binding GO:0001031 8.96 MTOR RPTOR
5 TFIIIC-class transcription factor complex binding GO:0001156 8.62 MTOR RPTOR

Sources for Tuberous Sclerosis 1

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