TSC1
MCID: TBR025
MIFTS: 71

Tuberous Sclerosis 1 (TSC1)

Categories: Cancer diseases, 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 58 12 76 30 6 15 74
Tuberous Sclerosis Complex 58 77 25 26 60 76 38
Tuberous Sclerosis, Type 1 77 54 41
Tuberous Sclerosis 60 76 74
Tuberous Sclerosis-1 58 13
Bourneville Syndrome 60 76
Tuberose Sclerosis 58 26
Tsc1 58 76
Ts 58 76
Tuberous Sclerosis Complex; Tsc 58
Bourneville Phakomatosis 26
Tuberose Sclerosis; Ts 58
Bourneville Disease 26
Cerebral Sclerosis 26
Sclerosis Tuberosa 26
Epiloia 26
Tsc 58

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
tuberous sclerosis 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Tuberous Sclerosis 1

OMIM : 58 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 focal cortical dysplasia, type ii, 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 Sirolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, skin and brain, and related phenotypes are eeg abnormality and prominent occiput

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 : 26 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 : 76 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 : 77 Tuberous sclerosis complex (TSC), is a rare multisystem genetic disease that causes non-cancerous... more...

GeneReviews:

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 474)
# Related Disease Score Top Affiliating Genes
1 lymphangioleiomyomatosis 32.7 MTOR TSC1 TSC2
2 focal cortical dysplasia, type ii 32.6 MTOR TSC1 TSC2
3 cystic kidney disease 32.3 CCL26 TSC1 TSC2
4 tuberous sclerosis 32.2 CCL26 MTOR RHEB TSC1 TSC2
5 polycystic kidney disease 1 with or without polycystic liver disease 31.9 MTOR TSC1 TSC2
6 congenital heart defects, hamartomas of tongue, and polysyndactyly 31.9 CCL26 TSC1 TSC2
7 lissencephaly with cerebellar hypoplasia 31.9 TSC1 TSC2
8 subependymal giant cell astrocytoma 31.8 MTOR TSC1 TSC2
9 corneal dystrophy, fleck 31.8 TSC1 TSC2
10 kidney benign neoplasm 31.7 MTOR TSC2
11 adult hepatocellular carcinoma 31.7 TSC1 TSC2
12 angiomyolipoma 31.7 CCL26 MTOR TSC1 TSC2
13 subependymal glioma 31.7 MTOR TSC1 TSC2
14 benign ependymoma 31.7 MTOR TSC1 TSC2
15 tuberous sclerosis 2 31.7 MTOR TSC1 TSC2
16 focal epilepsy 31.6 MTOR TSC1 TSC2
17 autosomal dominant polycystic kidney disease 31.6 MTOR TSC1 TSC2
18 kidney angiomyolipoma 31.5 MTOR RHEB TSC1 TSC2
19 hepatic angiomyolipoma 30.3 MTOR TSC2
20 renal cell carcinoma, nonpapillary 29.4 MTOR TSC1 TSC2
21 sudanophilic cerebral sclerosis 12.3
22 cerebral sclerosis similar to pelizaeus-merzbacher disease 12.2
23 gilles de la tourette syndrome 12.2
24 cerebral sclerosis, diffuse, scholz type 12.1
25 turner syndrome 12.0
26 adrenoleukodystrophy 11.8
27 metachromatic leukodystrophy 11.8
28 virus-associated trichodysplasia spinulosa 11.8
29 lennox-gastaut syndrome 11.7
30 bladder cancer 11.6
31 tumefactive multiple sclerosis 11.6
32 epilepsy 11.6
33 autism spectrum disorder 11.5
34 myelinoclastic diffuse sclerosis 11.4
35 gitelman syndrome 11.4
36 timothy syndrome 11.4
37 renal oncocytoma 11.3
38 mitochondrial dna depletion syndrome 4a 11.3
39 lung disease 11.3
40 trichostasis spinulosa 11.3
41 peutz-jeghers syndrome 11.2
42 autism 11.2
43 polycystic kidney disease, infantile severe, with tuberous sclerosis 11.2
44 temperature sensitivity complementation, cell cycle specific, k12 11.2
45 spinal cancer 11.2
46 autosomal dominant café au lait spots 11.2
47 pilocytic astrocytoma 11.2
48 soft tissue sarcoma 11.2
49 brain and spinal tumors 11.2
50 cowden syndrome 1 11.2

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



Diseases related to Tuberous Sclerosis 1

Symptoms & Phenotypes for Tuberous Sclerosis 1

Human phenotypes related to Tuberous Sclerosis 1:

60 33 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0002353
2 prominent occiput 60 33 hallmark (90%) Very frequent (99-80%) HP:0000269
3 angiofibromas 60 33 hallmark (90%) Very frequent (99-80%) HP:0010615
4 papule 60 33 hallmark (90%) Very frequent (99-80%) HP:0200034
5 subependymal nodules 60 33 hallmark (90%) Very frequent (99-80%) HP:0009716
6 subependymal giant-cell astrocytoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0009718
7 skin tags 60 33 hallmark (90%) Very frequent (99-80%) HP:0010609
8 ungual fibroma 60 33 hallmark (90%) Very frequent (99-80%) HP:0100804
9 intellectual disability 60 33 very rare (1%) Frequent (79-30%) HP:0001249
10 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
11 behavioral abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0000708
12 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
13 optic atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0000648
14 hypopigmented skin patches 60 33 frequent (33%) Frequent (79-30%) HP:0001053
15 multiple cafe-au-lait spots 60 33 frequent (33%) Frequent (79-30%) HP:0007565
16 confetti-like hypopigmented macules 60 33 frequent (33%) Frequent (79-30%) HP:0007449
17 nevus flammeus 60 33 frequent (33%) Frequent (79-30%) HP:0001052
18 retinal hamartoma 60 33 frequent (33%) Frequent (79-30%) HP:0009594
19 shagreen patch 60 33 frequent (33%) Frequent (79-30%) HP:0009721
20 cortical dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0002539
21 achromatic retinal patches 60 33 frequent (33%) Frequent (79-30%) HP:0009727
22 hypothyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000821
23 precocious puberty 60 33 occasional (7.5%) Occasional (29-5%) HP:0000826
24 respiratory insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0002093
25 cerebral calcification 60 33 occasional (7.5%) Occasional (29-5%) HP:0002514
26 increased intracranial pressure 60 33 occasional (7.5%) Occasional (29-5%) HP:0002516
27 renal insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0000083
28 emphysema 60 33 occasional (7.5%) Occasional (29-5%) HP:0002097
29 arrhythmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0011675
30 congestive heart failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0001635
31 multiple renal cysts 60 33 occasional (7.5%) Occasional (29-5%) HP:0005562
32 gingivitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000230
33 iris coloboma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000612
34 neoplasm of the pancreas 60 33 occasional (7.5%) Occasional (29-5%) HP:0002894
35 abnormality of the liver 60 33 occasional (7.5%) Occasional (29-5%) HP:0001392
36 aplasia/hypoplasia of the corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0007370
37 macrodactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0004099
38 pneumothorax 60 33 occasional (7.5%) Occasional (29-5%) HP:0002107
39 gingival fibromatosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000169
40 renal angiomyolipoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0006772
41 dental enamel pits 60 33 occasional (7.5%) Occasional (29-5%) HP:0009722
42 cardiac rhabdomyoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0009729
43 chylothorax 60 33 occasional (7.5%) Occasional (29-5%) HP:0010310
44 pulmonary lymphangiomyomatosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0012798
45 dilatation 33 occasional (7.5%) HP:0002617
46 abnormality of the respiratory system 60 33 Occasional (29-5%) HP:0002086
47 subcutaneous nodule 33 HP:0001482
48 autism 33 HP:0000717
49 attention deficit hyperactivity disorder 33 HP:0007018
50 abnormality of the pleura 60 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Tuberous Sclerosis 1:


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

MGI Mouse Phenotypes related to Tuberous Sclerosis 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.97 ARHGEF28 MTOR RHEB RPS6KB2 RPTOR SP7
2 growth/size/body region MP:0005378 9.91 ARHGEF28 COL5A1 MID1 MTOR RHEB RPS6KB2
3 embryo MP:0005380 9.87 COL5A1 MID1 MTOR RHEB RPTOR TSC1
4 mortality/aging MP:0010768 9.81 COL5A1 MID1 MTOR RHEB RPS6KB2 RPTOR
5 muscle MP:0005369 9.43 MID1 MTOR RHEB RPS6KB2 RPTOR TSC1
6 normal MP:0002873 9.23 ARHGEF28 COL5A1 MID1 MTOR RHEB RPS6KB2

Drugs & Therapeutics for Tuberous Sclerosis 1

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

(show top 50) (show all 167)
# 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 84)
# 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 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 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 Everolimus in Patients With Advanced Solid Malignancies With TSC1, TSC2, NF1, NF2, or STK11 Mutations Completed NCT02352844 Phase 2 Everolimus
32 Topical Rapamycin to Erase Angiofibromas in TSC Completed NCT01526356 Phase 2 Placebo;Rapamycin;Rapamycin
33 Rapalogues for Autism Phenotype in TSC: A Feasibility Study Completed NCT01929642 Phase 2 Sirolimus;Everolimus
34 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)
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 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
40 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
41 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
42 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;Copanlisib;Crizotinib;Dabrafenib;Dasatinib;Defactinib;Erdafitinib;FGFR Inhibitor AZD4547;Larotrectinib;Osimertinib;Palbociclib;PI3K-beta Inhibitor GSK2636771;Sapanisertib;Sunitinib Malate;Taselisib;Trametinib;Vismodegib
43 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
44 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
45 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)
46 Autologous Stem Cell Transplantation in Patients With Systemic Sclerosis Recruiting NCT03630211 Phase 2 Cyclophosphamide;Mesna;Rituximab;Alemtuzumab;Thiotepa;GM-CSF;Intravenous immunoglobulin
47 A Study of Everolimus in the Treatment of Neurocognitive Problems in Tuberous Sclerosis Active, not recruiting NCT01954693 Phase 2 Placebo;Everolimus (RAD001)
48 Everolimus for Cancer With TSC1 or TSC2 Mutation Active, not recruiting NCT02201212 Phase 2 Everolimus
49 Safety of Simvastatin in LAM and TSC Active, not recruiting NCT02061397 Phase 1, Phase 2 Simvastatin
50 Phase II Trial of AZD2014 in TSC1/2 Mutated or TSC1/2 Null GC Patients as Second-line Chemotherapy Terminated NCT03082833 Phase 2 AZD2014

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 30 TSC1

Anatomical Context for Tuberous Sclerosis 1

MalaCards organs/tissues related to Tuberous Sclerosis 1:

42
Kidney, Skin, Brain, Lung, Eye, Pancreas, Thyroid

Publications for Tuberous Sclerosis 1

Articles related to Tuberous Sclerosis 1:

(show top 50) (show all 1449)
# 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
Everolimus for epilepsy and autism spectrum disorder in tuberous sclerosis complex: EXIST-3 substudy in Japan. ( 30060984 )
2019
6
Birt-Hogg-Dubé syndrome initially diagnosed as tuberous sclerosis complex. ( 31008171 )
2019
7
Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study. ( 30868117 )
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
Does Vagal Nerve Stimulation Treat Drug-Resistant Epilepsy in Patients with Tuberous Sclerosis Complex? ( 30347295 )
2019
10
Dense array EEG estimated the epileptic focus in a patient with epilepsy secondary to tuberous sclerosis complex. ( 30077508 )
2019
11
Survival prediction of Tuberous Sclerosis Complex gene variant in patients with advanced non-small cell lung cancer treated with platinum doublet. ( 30842342 )
2019
12
Extrapulmonary uterine lymphangioleiomyomatosis (LAM) and dysfunctional uterine bleeding: the first presentation of LAM in a tuberous sclerosis complex patient. ( 30804158 )
2019
13
Circulating lymphangioleiomyomatosis tumor cells with loss of heterozygosity in the Tuberous Sclerosis Complex 2 gene show increased aldehyde dehydrogenase activity. ( 31034819 )
2019
14
Corrigendum: Regulation of the TSC pathway by LKB1: evidence of a molecular link between tuberous sclerosis complex and Peutz-Jeghers syndrome. ( 30936192 )
2019
15
Tuberous sclerosis complex presenting as convulsive status epilepticus followed by hypoxic cerebropathy: A case report. ( 31083211 )
2019
16
Autopsy case of right ventricular rhabdomyoma in tuberous sclerosis complex. ( 30336374 )
2019
17
Best use of the tuberous sclerosis complex-associated neuropsychiatric disorders (TAND) checklist. ( 30378680 )
2019
18
Tuberous sclerosis complex: new insights into clinical and therapeutic approach. ( 30406604 )
2019
19
Longitudinal Effects of Everolimus on White Matter Diffusion in Tuberous Sclerosis Complex. ( 30424962 )
2019
20
The Impact of Psychiatric Symptoms on Tuberous Sclerosis Complex and Utilization of Mental Health Treatment. ( 30527288 )
2019
21
Percutaneous microwave ablation of renal angiomyolipomas in tuberous sclerosis complex to improve the quality of life: preliminary experience in an Italian center. ( 30539412 )
2019
22
Correction: Loss of tuberous sclerosis complex 2 sensitizes tumors to nelfinavir-bortezomib therapy to intensify endoplasmic reticulum stress-induced cell death. ( 30622341 )
2019
23
Potential therapeutic effect of curcumin, a natural mTOR inhibitor, in tuberous sclerosis complex. ( 30668362 )
2019
24
Tuberous sclerosis complex exhibits a new renal cystogenic mechanism. ( 30675765 )
2019
25
Hyperexcitability of the local cortical circuit in mouse models of tuberous sclerosis complex. ( 30683131 )
2019
26
Cannabidiol modulates phosphorylated rpS6 signalling in a zebrafish model of Tuberous Sclerosis Complex. ( 30684511 )
2019
27
Resective surgery in tuberous Sclerosis complex, from Penfield to 2018: A critical review. ( 30686486 )
2019
28
Health utilities and quality of life in individuals with tuberous sclerosis complex (TSC) who experience epileptic seizures: A web-based survey. ( 30690322 )
2019
29
A small blackberry-like nodule on the nipple in a pregnant affected by Tuberous Sclerosis Complex. ( 30717568 )
2019
30
Abnormal glycogen storage in tuberous sclerosis complex caused by impairment of mTORC1-dependent and -independent signaling pathways. ( 30728291 )
2019
31
CT characteristics predict the response to everolimus or sirolimus of renal angiomyolipomas in patients with tuberous sclerosis complex. ( 30756282 )
2019
32
Efficacy and safety of mTOR inhibitors (rapamycin and its analogues) for tuberous sclerosis complex: a meta-analysis. ( 30760308 )
2019
33
'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
34
Dermoscopy of subungual red comets associated with tuberous sclerosis complex. ( 30828845 )
2019
35
Fibrous Cephalic Plaque in Tuberous Sclerosis Complex: Treatment With 0.2% Rapamycin. ( 30846165 )
2019
36
Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex. ( 30872599 )
2019
37
Finding a cure for tuberous sclerosis complex: From genetics through to targeted drug therapies. ( 30904097 )
2019
38
Histone deacetylase inhibitors restore normal hippocampal synaptic plasticity and seizure threshold in a mouse model of Tuberous Sclerosis Complex. ( 30918308 )
2019
39
NitroSynapsin for the treatment of neurological manifestations of tuberous sclerosis complex in a rodent model. ( 30928642 )
2019
40
Impacting development in infants with tuberous sclerosis complex: Multidisciplinary research collaboration. ( 30945897 )
2019
41
An update on the central nervous system manifestations of tuberous sclerosis complex. ( 30976976 )
2019
42
High-grade Oncocytic Tumor (HOT) of Kidney in a Patient with Tuberous Sclerosis Complex. ( 31002177 )
2019
43
Tuberous Sclerosis Complex Genotypes and Developmental Phenotype. ( 31005478 )
2019
44
Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex. ( 31018109 )
2019
45
Regression of renal angiomyolipomas with oral rapamycin therapy in a patient with tuberous sclerosis complex disease. ( 31031395 )
2019
46
Tuberous sclerosis complex: A rare etiology of multiple subsolid nodules. ( 31036377 )
2019
47
A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report. ( 31039793 )
2019
48
Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study. ( 31053163 )
2019
49
Characterization of the Basal Ganglia Using Diffusion Tensor Imaging in Children with Self-Injurious Behavior and Tuberous Sclerosis Complex. ( 31056796 )
2019
50
Intracranial aneurysms in patients with tuberous sclerosis complex: a systematic review. ( 31075764 )
2019

Variations for Tuberous Sclerosis 1

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

76
# 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 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

Cosmic variations for Tuberous Sclerosis 1:

9 (show top 50) (show all 312)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6982918 YES1 skin,eye,carcinoma,NS c.851G>A p.G284E 18:743289-743289 0
2 COSM6941466 XIAP kidney,NS,carcinoma,renal cell carcinoma unclassified c.563G>C p.G188A 23:123886225-123886225 0
3 COSM14312 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.353T>C p.L118P 3:10146526-10146526 0
4 COSM14380 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.548C>A p.S183* 3:10149871-10149871 0
5 COSM18350 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.256C>T p.P86S 3:10142103-10142103 0
6 COSM17957 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.292T>G p.Y98D 3:10142139-10142139 0
7 COSM14305 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.266T>A p.L89H 3:10142113-10142113 0
8 COSM14382 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.245G>C p.R82P 3:10142092-10142092 0
9 COSM25676 VHL kidney,NS,carcinoma,renal cell c.485G>T p.C162F 3:10149808-10149808 0
10 COSM17875 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.234T>G p.N78K 3:10142081-10142081 0
11 COSM17983 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.500G>A p.R167Q 3:10149823-10149823 0
12 COSM18097 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.482G>A p.R161Q 3:10149805-10149805 0
13 COSM14425 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.341-2A>T p.? 3:10146512-10146512 0
14 COSM17872 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.217C>T p.Q73* 3:10142064-10142064 0
15 COSM27269 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176L 3:124737785-124737785 0
16 COSM7349320 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1119+1G>T p.? 16:2060814-2060814 0
17 COSM7349613 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.976-1G>A p.? 16:2060669-2060669 0
18 COSM7349594 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.2356-1G>C p.? 16:2074199-2074199 0
19 COSM7349602 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1636G>T p.E546* 16:2065555-2065555 0
20 COSM7349619 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.390C>G p.Y130* 16:2054349-2054349 0
21 COSM7349321 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1600-1G>T p.? 16:2065518-2065518 0
22 COSM7349621 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.774+1G>A p.? 16:2056770-2056770 0
23 COSM7349639 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.731G>T p.C244F 16:2056726-2056726 0
24 COSM7349636 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1189C>T p.Q397* 16:2061940-2061940 0
25 COSM6957851 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.541G>A p.V181M 16:2055461-2055461 0
26 COSM7349616 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1717-1G>C p.? 16:2070455-2070455 0
27 COSM1272079 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.3412C>T p.R1138* 16:2080179-2080179 0
28 COSM6943738 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.975+1G>T p.? 16:2058874-2058874 0
29 COSM7349328 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1835T>A p.L612* 9:132905743-132905743 0
30 COSM7349331 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1276G>T p.D426Y 9:132907358-132907358 0
31 COSM6942356 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.2287C>T p.Q763* 9:132902709-132902709 0
32 COSM6963117 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1001C>A p.S334* 9:132911481-132911481 0
33 COSM4736805 TSC1 skin,eye,carcinoma,NS c.2065C>T p.R689C 9:132903794-132903794 0
34 COSM29770 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.508+1G>T p.? 9:132923347-132923347 0
35 COSM30474 TRIO kidney,NS,carcinoma,renal cell c.9008A>G p.N3003S 5:14508136-14508136 0
36 COSM6971614 TRAF7 skin,eye,carcinoma,NS c.349G>A p.E117K 16:2171264-2171264 0
37 COSM10656 TP53 kidney,NS,carcinoma,renal cell carcinoma unclassified c.742C>T p.R248W 17:7674221-7674221 0
38 COSM45243 TP53 kidney,NS,carcinoma,renal cell carcinoma unclassified c.374C>G p.T125R 17:7675995-7675995 0
39 COSM45444 TP53 skin,eye,carcinoma,NS c.587G>T p.R196L 17:7674944-7674944 0
40 COSM44126 TP53 skin,eye,carcinoma,NS c.507G>A p.M169I 17:7675105-7675105 0
41 COSM44310 TP53 kidney,NS,carcinoma,renal cell carcinoma unclassified c.738G>A p.M246I 17:7674225-7674225 0
42 COSM6922197 TP53 kidney,NS,carcinoma,renal cell carcinoma unclassified c.97-2A>C p.? 17:7676274-7676274 0
43 COSM6937552 TP53 skin,eye,carcinoma,NS c.859G>C p.E287Q 17:7673761-7673761 0
44 COSM45135 TP53 kidney,NS,carcinoma,renal cell carcinoma unclassified c.673-1G>T p.? 17:7674291-7674291 0
45 COSM10724 TP53 skin,eye,carcinoma,NS c.839G>C p.R280T 17:7673781-7673781 0
46 COSM43583 TP53 skin,eye,carcinoma,NS c.425C>T p.P142L 17:7675187-7675187 0
47 COSM10647 TP53 kidney,NS,carcinoma,renal cell carcinoma unclassified c.404G>T p.C135F 17:7675208-7675208 0
48 COSM6929752 TBX3 kidney,NS,carcinoma,renal cell carcinoma unclassified c.510G>T p.W170C 12:114681026-114681026 0
49 COSM4462891 STK40 skin,eye,carcinoma,NS c.1265C>T p.S422F 1:36341798-36341798 0
50 COSM4462893 STK40 skin,eye,carcinoma,NS c.1265C>T p.S422F 1:36341798-36341798 0

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:

38
# 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 46)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 CCL26 COL5A1 MTOR RHEB RPTOR TSC1
2
Show member pathways
13.41 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 RPTOR TSC1 TSC2
5
Show member pathways
12.9 MTOR RHEB RPS6KB2 RPTOR TSC1 TSC2
6
Show member pathways
12.86 MTOR RHEB RPTOR TSC1 TSC2
7
Show member pathways
12.84 MTOR RHEB RPS6KB2 TSC1 TSC2
8
Show member pathways
12.83 MTOR RHEB RPS6KB2 RPTOR TSC1 TSC2
9
Show member pathways
12.73 MTOR RHEB RPS6KB2 TSC2
10
Show member pathways
12.57 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
12.35 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
Show member pathways
11.75 MTOR RPS6KB2 TSC2
32 11.65 MTOR RHEB RPTOR TSC1 TSC2
33
Show member pathways
11.61 MTOR RHEB RPS6KB2 RPTOR TSC1 TSC2
34 11.53 MTOR TSC1 TSC2
35 11.45 MTOR RPTOR TSC1 TSC2
36 11.37 TSC1 TSC2
37 11.36 MTOR TSC2
38 11.34 MTOR RHEB RPTOR TSC1 TSC2
39 11.33 MTOR RHEB TSC1 TSC2
40
Show member pathways
11.28 MTOR RPTOR
41 11.25 MTOR RPTOR
42 11.23 MTOR RHEB RPTOR TSC2
43 11.21 MTOR RHEB RPS6KB2 RPTOR TSC1 TSC2
44 11.1 MTOR RHEB RPS6KB2 TSC2
45 10.93 MTOR TSC1
46 10.84 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 cytoplasm GO:0005737 9.81 ARHGEF28 MID1 MTOR RHEB RPS6KB2 RPTOR
2 postsynaptic density GO:0014069 9.43 RHEB TSC1 TSC2
3 TORC1 complex GO:0031931 8.96 MTOR RPTOR
4 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 9.37 TSC1 TSC2
2 phosphoprotein binding GO:0051219 9.32 MID1 MTOR
3 RNA polymerase III type 3 promoter DNA binding GO:0001032 9.26 MTOR RPTOR
4 RNA polymerase III type 1 promoter DNA binding GO:0001030 9.16 MTOR RPTOR
5 RNA polymerase III type 2 promoter DNA binding GO:0001031 8.96 MTOR RPTOR
6 TFIIIC-class transcription factor complex binding GO:0001156 8.62 MTOR RPTOR

Sources for Tuberous Sclerosis 1

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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