TSC2
MCID: TBR026
MIFTS: 71

Tuberous Sclerosis 2 (TSC2)

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

Aliases & Classifications for Tuberous Sclerosis 2

MalaCards integrated aliases for Tuberous Sclerosis 2:

Name: Tuberous Sclerosis 2 57 12 72 29 6 15 70
Tsc2 Angiomyolipomas, Renal, Modifier of 57 29 6
Tuberous Sclerosis, Type 2 73 39
Tuberous Sclerosis-2 57 13
Tuberous Sclerosis 72 70
Tsc2 57 72
Tuberous Sclerosis Complex 72
Ts 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
majority of cases are sporadic
highly variable phenotype
genetic heterogeneity (see )
one-third of cases are familial
prevalence of 1 in 6,000 to 1 in 10,000
many studies have reported that the phenotype of tuberous sclerosis-2 (tsc2) is more severe than that of tuberous sclerosis-1 (e.g., lower iq, more seizures, more macules, cust-like cortical tubers)
frequent new mutations (~60%) and/or gonadal mosaicism in tsc2


HPO:

31
tuberous sclerosis 2:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



Summaries for Tuberous Sclerosis 2

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. These changes can result in epilepsy, learning difficulties, behavioral problems, and renal failure, among other complications (reviews by Crino et al., 2006 and Curatolo et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of tuberous sclerosis, see tuberous sclerosis-1 (191100), caused by mutation in the TSC1 gene (605284) on chromosome 9q34. Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section). (613254) (Updated 20-May-2021)

MalaCards based summary : Tuberous Sclerosis 2, also known as tsc2 angiomyolipomas, renal, modifier of, is related to hemimegalencephaly and angiomyolipoma, and has symptoms including seizures, tremor and back pain. An important gene associated with Tuberous Sclerosis 2 is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways are Signaling by GPCR and ERK Signaling. The drugs Miconazole and Clotrimazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and liver, and related phenotypes are intellectual disability and autism

Disease Ontology : 12 A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has material basis in autosomal dominant inheritance of heterozygous mutation in the TSC2 gene, which encodes tuberin, on chromosome 16p13.

UniProtKB/Swiss-Prot : 72 Tuberous sclerosis 2: 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 : 73 Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes... more...

Related Diseases for Tuberous Sclerosis 2

Diseases in the Tuberous Sclerosis family:

Tuberous Sclerosis 1 Tuberous Sclerosis 2

Diseases related to Tuberous Sclerosis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 798)
# Related Disease Score Top Affiliating Genes
1 hemimegalencephaly 32.3 TSC2 RHEB MTOR
2 angiomyolipoma 32.2 TSC2 TSC1 MTOR
3 kidney angiomyolipoma 32.0 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
4 heart cancer 31.6 TSC2 TSC1 MTOR
5 perivascular tumor 31.6 TSC2 TSC1 MTOR
6 corneal dystrophy, fleck 31.6 TSC2 TSC1 MTOR
7 lissencephaly with cerebellar hypoplasia 31.6 TSC2 TSC1
8 uterus perivascular epithelioid cell tumor 31.6 TSC2 TSC1 RPS6KB1
9 cowden syndrome 1 31.5 TSC2 TSC1 RPS6KB1 RHEB MTOR
10 kidney benign neoplasm 31.5 TSC2 TSC1 RHEB MTOR
11 proteus syndrome 31.5 TSC2 TSC1 RHEB MTOR
12 spinal cord disease 31.5 TSC2 TSC1 RHEB MTOR
13 autosomal genetic disease 31.4 TSC2 SERPINC1 MTOR IGF1
14 central nervous system benign neoplasm 31.4 TSC2 TSC1 RHEB MTOR IGF1
15 rasopathy 31.4 TSC2 MTOR MAP2K2 IGF1
16 subependymal glioma 31.0 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
17 renal cell carcinoma, nonpapillary 31.0 TSC2 TSC1 RHEB MTOR IFNG EIF4EBP1
18 hepatic angiomyolipoma 30.9 TSC2 MTOR
19 autosomal dominant polycystic kidney disease 30.9 TSC2 TSC1 MTOR IGF1
20 tuberous sclerosis 30.7 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
21 tuberous sclerosis 1 30.4 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
22 focal cortical dysplasia, type ii 30.3 TSC2 TSC1 RHEB MTOR
23 subependymal giant cell astrocytoma 30.3 TSC2 TSC1 RHEB MTOR
24 lymphangioleiomyomatosis 30.2 TSC2 TSC1 RPS6KB1 MTOR IGF1
25 cowden syndrome 30.0 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
26 muscle hypertrophy 29.8 RPS6KB1 MTOR IGF1 EIF4EBP1
27 benign ependymoma 29.8 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
28 rhabdomyosarcoma 29.5 RPS6KB1 MTOR IRS1 IGF1 EIF4EBP1
29 disease of mental health 29.3 TSC2 TSC1 SERPINC1 RPTOR RPS6KB1 RHEB
30 west syndrome 11.4
31 polycystic kidney disease, infantile severe, with tuberous sclerosis 11.3
32 wolff-parkinson-white syndrome 11.2
33 renal oncocytoma 11.2
34 breast cancer 11.1
35 cafe-au-lait spots, multiple 11.1
36 spinal cancer 11.1
37 soft tissue sarcoma 11.1
38 brain and spinal tumors 11.1
39 epilepsy 11.0
40 neuroblastoma 11.0
41 glioma susceptibility 1 11.0
42 malignant astrocytoma 11.0
43 dysostosis 10.9
44 polycystic kidney disease 4 with or without polycystic liver disease 10.9
45 lissencephaly 10.9
46 b-lymphoblastic leukemia/lymphoma 10.9
47 autism spectrum disorder 10.9
48 alacrima, achalasia, and mental retardation syndrome 10.9
49 hereditary renal cell carcinoma 10.8
50 acrofacial dysostosis 10.8

Graphical network of the top 20 diseases related to Tuberous Sclerosis 2:



Diseases related to Tuberous Sclerosis 2

Symptoms & Phenotypes for Tuberous Sclerosis 2

Human phenotypes related to Tuberous Sclerosis 2:

31 (show all 33)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 autism 31 very rare (1%) HP:0000717
3 infantile spasms 31 very rare (1%) HP:0012469
4 renal cyst 31 very rare (1%) HP:0000107
5 retinal hamartoma 31 very rare (1%) HP:0009594
6 shagreen patch 31 very rare (1%) HP:0009721
7 pulmonary lymphangiomyomatosis 31 very rare (1%) HP:0012798
8 hypomelanotic macule 31 very rare (1%) HP:0009719
9 angiofibromas 31 very rare (1%) HP:0010615
10 cardiac rhabdomyoma 31 very rare (1%) HP:0009729
11 subependymal nodules 31 very rare (1%) HP:0009716
12 cortical tubers 31 very rare (1%) HP:0009717
13 subependymal giant-cell astrocytoma 31 very rare (1%) HP:0009718
14 subungual fibromas 31 very rare (1%) HP:0009724
15 cerebral calcification 31 HP:0002514
16 hypothyroidism 31 HP:0000821
17 precocious puberty 31 HP:0000826
18 attention deficit hyperactivity disorder 31 HP:0007018
19 specific learning disability 31 HP:0001328
20 subcutaneous nodule 31 HP:0001482
21 astrocytoma 31 HP:0009592
22 renal cell carcinoma 31 HP:0005584
23 adenoma sebaceum 31 HP:0009720
24 cafe-au-lait spot 31 HP:0000957
25 gingival fibromatosis 31 HP:0000169
26 renal angiomyolipoma 31 HP:0006772
27 wolff-parkinson-white syndrome 31 HP:0001716
28 ependymoma 31 HP:0002888
29 hemimegalencephaly 31 HP:0007206
30 optic nerve glioma 31 HP:0009734
31 achromatic retinal patches 31 HP:0009727
32 chordoma 31 HP:0010762
33 epileptic spasm 31 HP:0011097

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
infantile spasms
subependymal nodules
cortical tubers
hamartomatous lesions of the brain
more
Neurologic Behavioral Psychiatric Manifestations:
autism
hyperactivity
attention deficit disorder

Neoplasia:
ependymoma
chordoma
renal carcinoma
myocardial rhabdomyoma
multiple bilateral renal angiomyolipoma
more
Head And Neck Eyes:
achromatic retinal patches
retinal astrocytoma
optic gliomas

Head And Neck Mouth:
pitted dental enamel
gingival fibroma

Skeletal:
cystic areas of bone rarefaction, esp. phalanges

Endocrine Features:
hypothyroidism
precocious puberty

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
allelic loss on 16p13.3 in angiomyolipoma, cardiac rhabdomyoma, cortical tuber, and giant cell astrocytoma

Clinical features from OMIM®:

613254 (Updated 20-May-2021)

UMLS symptoms related to Tuberous Sclerosis 2:


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

GenomeRNAi Phenotypes related to Tuberous Sclerosis 2 according to GeneCards Suite gene sharing:

26 (show all 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.64 DAPK1 MTOR
2 Decreased viability GR00055-A-2 10.64 DAPK1 MTOR
3 Decreased viability GR00221-A-1 10.64 MAPK14 RPS6KB1 DAPK1 IRS1 MTOR RHEB
4 Decreased viability GR00221-A-2 10.64 CALM1 MAPK14 TSC1 IRS1
5 Decreased viability GR00221-A-3 10.64 CALM1 TSC1
6 Decreased viability GR00221-A-4 10.64 CALM1 DAPK1 MTOR
7 Decreased viability GR00301-A 10.64 CALM1 MAPK14 RPS6KB1 TSC1
8 Decreased viability GR00342-S-1 10.64 DAPK1 MTOR
9 Decreased viability GR00342-S-2 10.64 IRS1 MTOR
10 Decreased viability GR00342-S-3 10.64 IRS1
11 Decreased viability GR00381-A-1 10.64 RPS6KB1
12 Decreased viability GR00386-A-1 10.64 MAPK14 IRS1 RHEB
13 Decreased viability GR00402-S-2 10.64 CALM1 RPS6KB1
14 Decreased substrate adherent cell growth GR00193-A-1 10.18 RPS6KB1
15 Decreased substrate adherent cell growth GR00193-A-2 10.18 DAPK1 MAPK14 MAPKAPK2 MTOR
16 Decreased substrate adherent cell growth GR00193-A-3 10.18 DAPK1 MAPKAPK2 MAP2K2 RPS6KB1
17 Decreased viability with paclitaxel GR00179-A-1 9.96 MTOR RPS6KB1 IGF1
18 Decreased viability with paclitaxel GR00179-A-2 9.96 MTOR IGF1
19 Decreased viability with paclitaxel GR00179-A-3 9.96 MTOR RPS6KB1
20 Decreased cell migration GR00055-A-1 9.73 MAP2K2 TSC1
21 Decreased cell migration GR00055-A-3 9.73 DAPK1 MTOR
22 Reduced mammosphere formation GR00396-S 9.5 CALM1 EIF4EBP1 IGF1 MTOR RHEB RPTOR
23 Decreased cell viability after pRB stimulation GR00230-A-1 9.4 DAPK1 MAPKAPK2
24 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.02 EIF4EBP1 MAP2K2 RPS6KB1 TSC1 TSC2
25 Increased the percentage of infected cells GR00402-S-1 8.85 KCNA2

MGI Mouse Phenotypes related to Tuberous Sclerosis 2:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.44 DAPK1 EIF4EBP1 IFNG IGF1 IRS1 MAP2K2
2 cardiovascular system MP:0005385 10.39 EIF4EBP1 IFNG IGF1 IRS1 MAP2K2 MAPK14
3 homeostasis/metabolism MP:0005376 10.39 DAPK1 EIF4EBP1 IFNG IGF1 IRS1 MAP2K2
4 growth/size/body region MP:0005378 10.34 EIF4EBP1 IFNG IGF1 IRS1 KCNA2 MAP2K2
5 mortality/aging MP:0010768 10.31 EIF4EBP1 IFNG IGF1 IRS1 KCNA2 MAP2K2
6 endocrine/exocrine gland MP:0005379 10.29 IFNG IGF1 IRS1 MAP2K2 MAPK14 MTOR
7 hematopoietic system MP:0005397 10.26 IFNG IGF1 IRS1 MAPK14 MAPKAPK2 MTOR
8 embryo MP:0005380 10.22 IFNG MAPK14 MAPKAPK2 MTOR RHEB RPS6KB1
9 muscle MP:0005369 10.18 EIF4EBP1 IFNG IGF1 IRS1 MAPK14 MAPKAPK2
10 liver/biliary system MP:0005370 10.03 IFNG IRS1 MAPK14 NR1H2 RPTOR SERPINC1
11 nervous system MP:0003631 10.03 DAPK1 IFNG IGF1 KCNA2 MAPK14 MAPKAPK2
12 neoplasm MP:0002006 9.97 IFNG IGF1 MAP2K2 MAPK14 MAPKAPK2 NR1H2
13 normal MP:0002873 9.81 IFNG IGF1 MAP2K2 MAPK14 MAPKAPK2 MTOR
14 reproductive system MP:0005389 9.65 IFNG IGF1 MAPK14 NR1H2 RHEB RPS6KB1
15 skeleton MP:0005390 9.32 IFNG IGF1 IRS1 MAP2K2 MAPK14 MAPKAPK2

Drugs & Therapeutics for Tuberous Sclerosis 2

Drugs for Tuberous Sclerosis 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 80)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
2
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
3
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
4
Vigabatrin Approved Phase 4 60643-86-9, 68506-86-5 5665
5 Antibiotics, Antitubercular Phase 4
6 Anti-Bacterial Agents Phase 4
7 Antifungal Agents Phase 4
8 Anti-Infective Agents Phase 4
9 Antiparasitic Agents Phase 4
10 Antimalarials Phase 4
11 Antiprotozoal Agents Phase 4
12 Anticonvulsants Phase 4
13 Neurotransmitter Agents Phase 4
14
Phenytoin Approved, Vet_approved Phase 3 57-41-0 1775
15
Clobazam Approved, Illicit Phase 3 22316-47-8 2789
16
Clonazepam Approved, Illicit Phase 3 1622-61-3 2802
17
Phenobarbital Approved, Investigational Phase 3 50-06-6 4763
18
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
19
Topiramate Approved Phase 3 97240-79-4 5284627
20
Carbamazepine Approved, Investigational Phase 3 298-46-4 2554
21
Ethanol Approved Phase 3 64-17-5 702
22 Strawberry Approved Phase 3
23
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177 70789204
24
Melatonin Approved, Nutraceutical, Vet_approved Phase 3 73-31-4 896
25
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 134070 5280453
26 Antioxidants Phase 3
27 Protective Agents Phase 3
28 Micronutrients Phase 3
29 Trace Elements Phase 3
30 Nutrients Phase 3
31 Hormones Phase 3
32 Vasoconstrictor Agents Phase 3
33 Calcium, Dietary Phase 3
34 Vitamins Phase 3
35 Pharmaceutical Solutions Phase 3
36 Epidiolex Phase 3
37
Calcium Nutraceutical Phase 3 7440-70-2 271
38
Simvastatin Approved Phase 1, Phase 2 79902-63-9 54454
39
Propranolol Approved, Investigational Phase 2 525-66-6 4946
40
tannic acid Approved Phase 2 1401-55-4
41
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
42
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
43
Coal tar Approved Phase 1, Phase 2 8007-45-2
44
Olaparib Approved Phase 2 763113-22-0 23725625
45
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
46
Durvalumab Approved, Investigational Phase 2 1428935-60-7
47
Lapatinib Approved, Investigational Phase 2 231277-92-2, 388082-78-8 208908 9941095
48
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
49
Tremelimumab Investigational Phase 2 745013-59-6
50 Antimetabolites Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 67)
# Name Status NCT ID Phase Drugs
1 Phase IV, Single Arm Study of Safety and Efficacy of Everolimus in Chinese Adults With Tuberous Sclerosis Complex Who Have Renal Angiomyolipoma Not Requiring Immediate Surgery Completed NCT03525834 Phase 4 everolimus
2 A Randomised, Double Blind, Placebo Controlled Trial of Doxycycline in Lymphangioleiomyomatosis. Completed NCT00989742 Phase 4 Doxycycline;Placebo
3 CLINICAL TRIAL TO DETERMINE THE EFFICACY AND SAFETY OF RAPAMYCIN IN ANGIOMYOLIPOMAS IN PATIENTS WITH TUBEROUS SCLEROSIS Completed NCT01217125 Phase 4 Sirolimus
4 Sabril for Treatment of Adult Refractory Partial Seizures Symptomatic of Tuberous Sclerosis: An Open Label, Phase IV Prospective Safety and Tolerability Study Terminated NCT01266291 Phase 4 vigabatrin
5 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
6 A Randomized, Placebo-controlled Study to Investigate the Efficacy and Safety of Circadin® to Alleviate Sleep Disturbances in Children With Neurodevelopmental Disabilities Completed NCT01906866 Phase 3 Circadin 2/5/10 mg;Placebo
7 A Randomized, Double-blind, Placebo-controlled Study of RAD0001 in the Treatment of Angiomyolipoma in Patients With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00790400 Phase 3 Everolimus (RAD001);Everolimus Placebo
8 A Three-arm, Randomized, Double-blind, Placebo-controlled Study of the Efficacy and Safety of Two Trough-ranges of Everolimus as Adjunctive Therapy in Patients With Tuberous Sclerosis Complex (TSC) Who Have Refractory Partial-onset Seizures Completed NCT01713946 Phase 3 RAD001;Placebo;Antiepileptic drug (1 to 3 only);open label RAD001 (only used for post-extension phase)
9 A Double-blind, Randomized, Placebo-controlled Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P, CBD) as Add-on Therapy in Patients With Tuberous Sclerosis Complex Who Experience Inadequately-controlled Seizures Completed NCT02544763 Phase 3 GWP42003-P;Placebo
10 A Double-blind, Randomized, Placebo-controlled Phase III Trial to Investigate the Efficacy and Safety of NPC-12G Gel (Topical Formulation of Sirolimus) to Angiofibroma and Other Skin Lesions in Patients With Tuberous Sclerosis Complex Completed NCT02635789 Phase 3 NPC-12G gel;Placebo gel
11 A Long-term, Single-arm, Open-label Trial of NPC-12G (Topical Formulation of Sirolimus) to Angiofibroma and Other Skin Lesions in Patients With Tuberous Sclerosis Complex Completed NCT02634931 Phase 3 NPC-12G gel
12 A Randomized, Double-blind, Placebo-controlled Study of Everolimus in the Treatment of Patients With Subependymal Giant Cell Astrocytomas (SEGA) Associated With Tuberous Sclerosis Complex (TSC) Completed NCT00789828 Phase 3 Everolimus;Placebo
13 Study of Combination Therapy With Topical Rapamycin and Calcitriol for Cutaneous Lesions of Tuberous Sclerosis: A Double-blind Randomized Controlled Trial Completed NCT03140449 Phase 3 Rapamycin;Calcitriol;Rapamycin-calcitriol combination
14 An Open-label, Randomized Trial to Assess the Safety, Pharmacokinetics, and Exploratory Efficacy of Adjunctive Cannabidiol Oral Solution (GWP42003-P) Compared With Standard of Care Antiepileptic Therapy, in Patients Age 1 Month to Less Than 12 Months of Age With Tuberous Sclerosis Complex Who Experience Inadequately-controlled Seizures Recruiting NCT04485104 Phase 3 GWP42003-P;Standard of care
15 A Phase 2/3, Multi-Center, Double-Blind, Placebo-Controlled, Randomized, Parallel-Group, Dose-Response Comparison of the Efficacy and Safety of a Topical Rapamycin Cream for the Treatment of Facial Angiofibromas (FA) Associated With Tuberous Sclerosis Complex (TSC) in Patients 6 Years of Age and Over Recruiting NCT03826628 Phase 2, Phase 3 rapamycin;placebo
16 An Open-label, Multi-center Long-term Safety Roll-over Study in Patients With Tuberous Sclerosis Complex (TSC) and Refractory Seizures Who Are Judged by the Investigator to Benefit From Continued Treatment With Everolimus After Completion of Study CRAD001M2304. Active, not recruiting NCT02962414 Phase 3 everolimus
17 A Double-blind, Randomized, Placebo-controlled Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P, CBD) as Add-on Therapy in Patients With Tuberous Sclerosis Complex Who Experience Inadequately-controlled Seizures Enrolling by invitation NCT02544750 Phase 3 GWP42003-P
18 Topical Everolimus Versus Placebo for the Treatment of Facial Angiofibromas in Patients With Tuberous Sclerosis Complex. A Phase II/III, Multicentre, Randomized, Double-blind, Placebo-controlled Study of 3 Doses of Topical Everolimus. Not yet recruiting NCT02860494 Phase 2, Phase 3 Everolimus;Placebo
19 A Trial of the Efficacy and Safety of Sirolimus(Rapamycin)Therapy for Renal Angiomyolipmoas in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Unknown status NCT00490789 Phase 2 sirolimus
20 TRON: A Randomised, Double Blind, Placebo-controlled Study of RAD001 (Everolimus) in the Treatment of Neurocognitive Problems in Tuberous Sclerosis Unknown status NCT01954693 Phase 2 Placebo;Everolimus (RAD001)
21 A Pilot Study To Evaluate The Effects of Everolimus on Brain mTOR Activity and Cortical Hyperexcitability in TSC and FCD Completed NCT02451696 Phase 2 Everolimus
22 Randomized Double-Blind Phase 2 Trial Of RAD001 For Neurocognition In Individuals With Tuberous Sclerosis Complex Completed NCT01289912 Phase 2 RAD001;Placebo
23 Rapalogues for Autism Phenotype in TSC: A Feasibility Study Completed NCT01929642 Phase 2 Sirolimus;Everolimus
24 Long Term Follow Up for RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00792766 Phase 1, Phase 2 everolimus (RAD001)
25 RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457964 Phase 1, Phase 2 RAD001
26 Rapamycin Therapy of Angiomyolipomas in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457808 Phase 2 Rapamycin, sirolimus
27 Everolimus (RAD001)Therapy of Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex Completed NCT00411619 Phase 1, Phase 2 Everolimus
28 Everolimus (RAD001) Therapy for Epilepsy in Patients With Tuberous Sclerosis Complex Completed NCT01070316 Phase 1, Phase 2 Everolimus
29 The Safety of Simvastatin (SOS) in Patients With Pulmonary Lymphangioleiomyomatosis (LAM) and With Tuberous Sclerosis Complex (TSC) Completed NCT02061397 Phase 1, Phase 2 Simvastatin;Sirolimus Oral Product;Everolimus Oral Product
30 A Phase II Trial of Everolimus for Cancer Patients With Inactivating Mutations in TSC1 or TSC2 or Activating MTOR Mutations Completed NCT02201212 Phase 2 Everolimus
31 Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers: Pilot Trial Completed NCT02104011 Phase 2 Propranolol
32 Phase II Study of Topical Rapamycin to Erase Angiofibromas in TSC-Multicenter Evaluation of a Novel Therapy Completed NCT01526356 Phase 2 Placebo;Rapamycin;Rapamycin
33 Phase II Study of Everolimus in Patients With Advanced Solid Malignancies With TSC1, TSC2, NF1, NF2, or STK11 Mutations Completed NCT02352844 Phase 2 Everolimus
34 A Placebo-controlled Study of Efficacy & Safety of Aspirin as an add-on Treatment in Patients With Tuberous Sclerosis Complex (TSC) & Refractory Seizures Recruiting NCT03356769 Phase 2 Aspirin;AED;Placebo
35 Stopping TSC Onset and Progression 2: Epilepsy Prevention in TSC Infants Recruiting NCT04595513 Phase 1, Phase 2 TAVT-18 (sirolimus);Placebo
36 A Phase 2 Open-label 12-Week Trial of Adjunctive Ganaxolone Treatment (Part A) in Tuberous Sclerosis Complex-related Epilepsy Followed by Long-term Treatment (Part B) Recruiting NCT04285346 Phase 2 Ganaxolone
37 Phase 2 Multi Center Prospective Rand. Double Blind Placebo Cont. Parallel Design Study to Evaluate Safety & Efficacy of Topical Sirolimus for Cutaneous Angiofibromas in Subjects W/ Tuberous Sclerosis Complex Followed by Opt. Open Label Recruiting NCT03363763 Phase 2 Sirolimus 0.2%;Sirolimus 0.4%;Placebo ointment
38 A Two-period, Multicenter, Randomized, Open-label, Phase II Study Evaluating the Clinical Benefit of a Maintenance Treatment Targeting Tumor Molecular Alterations in Patients With Progressive Locally-advanced or Metastatic Solid Tumors 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)
39 Preventing Epilepsy Using Vigabatrin In Infants With Tuberous Sclerosis Complex (PREVeNT Trial) A Randomized, Double-blind, Placebo-controlled Seizure Prevention Clinical Trial for Infants With TSC Active, not recruiting NCT02849457 Phase 2 Vigabatrin;Placebo
40 An Open Label, Multicenter, Single Arm Phase II Study to Evaluate the Activity and Tolerability of the Novel mTOR Inhibitor, MLN0128 (TAK-228), in Patients With Locally Advanced or Metastatic Transitional Cell Carcinoma of the Urothelial Tract Whose Tumors Harbor a TSC1 and/or a TSC2 Mutation Active, not recruiting NCT03047213 Phase 2 Sapanisertib
41 Topical Rapamycin Therapy to Alleviate Cutaneous Manifestations of Tuberous Sclerosis Complex and Neurofibromatosis 1 Completed NCT01031901 Phase 1 Skincerity;Skincerity plus sirolimus/rapamycin;Skinercity plus sirolimus/rapamycin
42 Tuberous Sclerosis Complex: Facial Angiofibroma Skin Cream Completed NCT01853423 Phase 1 Rapamune
43 Long-term, Prospective Study Evaluating Clinical and Molecular Biomarkers of Epileptogenesis in a Genetic Model of Epilepsy - Tuberous Sclerosis Complex Unknown status NCT02098759
44 Clinical Presentation and Renal Outcome of Patients With Tuberous Sclerosis Complex and/or Renal Angiomyolipoma in the Great West Region of France Unknown status NCT02887781
45 The Cognitive Variability in Neurofibromatosis Type I and Tuberous Sclerosis Complex Monozygotic Twins Unknown status NCT02436746
46 Characterizing Sleep Disorders in Children and Adults With Tuberous Sclerosis Complex (TSC) Unknown status NCT03326765
47 Tuberous Sclerosis Complex Natural History Study: Renal Manifestations Completed NCT00598455
48 Early Behavioral Intervention to Improve Social Communication Function in Infants With Tuberous Sclerosis Complex Completed NCT02687633
49 Longitudinal Study to Identify Early Biomarkers of Autism Spectrum Disorder (ASD) in Infants With Tuberous Sclerosis Complex (TSC) Completed NCT01780441
50 Potential EEG Biomarkers and Antiepileptogenic Strategies for Epilepsy in TSC Completed NCT01767779

Search NIH Clinical Center for Tuberous Sclerosis 2

Genetic Tests for Tuberous Sclerosis 2

Genetic tests related to Tuberous Sclerosis 2:

# Genetic test Affiliating Genes
1 Tuberous Sclerosis 2 29 IFNG TSC2
2 Tsc2 Angiomyolipomas, Renal, Modifier of 29

Anatomical Context for Tuberous Sclerosis 2

MalaCards organs/tissues related to Tuberous Sclerosis 2:

40
Kidney, Heart, Liver, Thyroid, Skin, Brain, Lung

Publications for Tuberous Sclerosis 2

Articles related to Tuberous Sclerosis 2:

(show top 50) (show all 278)
# Title Authors PMID Year
1
TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex. 57 6
19419980 2009
2
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. 6 57
17304050 2007
3
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. 6 57
17120248 2006
4
Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. 6 57
15798777 2005
5
Discordant clinical manifestations in monozygotic twins with the identical mutation in the TSC2 gene. 57 6
12752578 2003
6
Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients. 6 57
12192641 2002
7
SNP identification, haplotype analysis, and parental origin of mutations in TSC2. 6 57
12136241 2002
8
A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex. 6 57
11403047 2001
9
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. 57 6
11112665 2001
10
High rate of mosaicism in tuberous sclerosis complex. 57 6
10330349 1999
11
Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. 6 57
9881533 1998
12
Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex. 6 57
8825048 1996
13
A de novo frame-shift mutation in the tuberin gene. 6 57
7581393 1995
14
Somatic mosaicism and clinical variation in tuberous sclerosis complex. 57 6
7823706 1995
15
Mutation and cancer: statistical study of retinoblastoma. 6 57
5279523 1971
16
N-terminal hamartin-binding and C-terminal GAP domain of tuberin can separate in vivo. 6 61
17379185 2007
17
Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene. 6 61
10732801 1998
18
Suppression of tumorigenicity by the wild-type tuberous sclerosis 2 (Tsc2) gene and its C-terminal region. 61 6
8799170 1996
19
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 6
33532864 2021
20
A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases. 6
29801666 2018
21
Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings. 6
29926239 2018
22
Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the TSC1 and TSC2 genes. 6
29932062 2018
23
Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome. 6
29500070 2018
24
Pattern of TSC1 and TSC2 germline mutations in Russian patients with tuberous sclerosis. 6
29476190 2018
25
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders. 6
29655203 2018
26
Antenatal screening and diagnosis of tuberous sclerosis complex by fetal echocardiography and targeted genomic sequencing. 6
29642139 2018
27
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations. 6
29684080 2018
28
Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants. 6
29101226 2017
29
Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece. 6
29196670 2017
30
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. 6
28600779 2017
31
The genomic landscape of tuberous sclerosis complex. 6
28643795 2017
32
Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex. 6
27859028 2017
33
Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex. 6
28178598 2017
34
Combination of Multiple Ligation-Dependent Probe Amplification and Illumina MiSeq Amplicon Sequencing for TSC1/TSC2 Gene Analyses in Patients with Tuberous Sclerosis Complex. 6
28087349 2017
35
Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex. 6
28127866 2017
36
TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex. 6
28211972 2017
37
Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China. 6
28065512 2017
38
Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis. 6
28968464 2017
39
Multifocal micronodular pneumocyte hyperplasia (MMPH) in a patient with tuberous sclerosis-evidence for long term stability. 6
28149746 2017
40
Genotype and brain pathology phenotype in children with tuberous sclerosis complex. 6
27406250 2016
41
Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development. 6
27494029 2016
42
mTORC1-mediated downregulation of COX2 restrains tumor growth caused by TSC2 deficiency. 6
27078846 2016
43
Comparison of Color Fundus Photography, Infrared Fundus Photography, and Optical Coherence Tomography in Detecting Retinal Hamartoma in Patients with Tuberous Sclerosis Complex. 6
27174333 2016
44
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis. 6
26703369 2016
45
Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2. 6
25782670 2015
46
Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. 6
26540169 2015
47
TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex. 6
25900779 2015
48
Quick genetic screening using targeted next-generation sequencing in patients with tuberous sclerosis. 6
24789117 2015
49
A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex. 6
25432535 2015
50
Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. 6
25599672 2015

Variations for Tuberous Sclerosis 2

ClinVar genetic disease variations for Tuberous Sclerosis 2:

6 (show top 50) (show all 3941)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TSC2 NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) SNV Pathogenic 12404 rs45517258 GRCh37: 16:2126142-2126142
GRCh38: 16:2076141-2076141
2 TSC2 NM_000548.5(TSC2):c.2713C>G (p.Arg905Gly) SNV Pathogenic 12405 rs45517258 GRCh37: 16:2126142-2126142
GRCh38: 16:2076141-2076141
3 TSC2 NM_000548.5(TSC2):c.2355+2_2355+5del Deletion Pathogenic 12406 rs137854250 GRCh37: 16:2122983-2122986
GRCh38: 16:2072982-2072985
4 TSC2 NM_000548.5(TSC2):c.1322G>A (p.Trp441Ter) SNV Pathogenic 12407 rs45515894 GRCh37: 16:2112562-2112562
GRCh38: 16:2062561-2062561
5 TSC2 NM_000548.5(TSC2):c.5161del (p.Met1721fs) Deletion Pathogenic 49360 rs137854251 GRCh37: 16:2138228-2138228
GRCh38: 16:2088227-2088227
6 TSC2 NM_000548.5(TSC2):c.4642del (p.Leu1548fs) Deletion Pathogenic 12392 rs137854083 GRCh37: 16:2135302-2135302
GRCh38: 16:2085301-2085301
7 TSC2 NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) SNV Pathogenic 12393 rs45483392 GRCh37: 16:2137898-2137898
GRCh38: 16:2087897-2087897
8 TSC2 NM_000548.5(TSC2):c.34A>T (p.Lys12Ter) SNV Pathogenic 12394 rs45512692 GRCh37: 16:2098650-2098650
GRCh38: 16:2048649-2048649
9 TSC2 NM_000548.5(TSC2):c.2056_2059dup (p.Ser687fs) Duplication Pathogenic 12395 rs137854337 GRCh37: 16:2121893-2121894
GRCh38: 16:2071892-2071893
10 TSC2 NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) SNV Pathogenic 12397 rs28934872 GRCh37: 16:2120572-2120572
GRCh38: 16:2070571-2070571
11 TSC2 NM_000548.5(TSC2):c.2150T>G (p.Leu717Arg) SNV Pathogenic 12398 rs45517214 GRCh37: 16:2122294-2122294
GRCh38: 16:2072293-2072293
12 TSC2 NM_000548.5(TSC2):c.1432C>T (p.Gln478Ter) SNV Pathogenic 12399 rs121964862 GRCh37: 16:2113043-2113043
GRCh38: 16:2063042-2063042
13 TSC2 NM_000548.5(TSC2):c.826_827del (p.Met276fs) Deletion Pathogenic 49447 rs137853977 GRCh37: 16:2107157-2107158
GRCh38: 16:2057156-2057157
14 TSC2 NP_000539.2(TSC2):p.Gln1579Pro protein only Pathogenic 208846 GRCh37:
GRCh38:
15 TSC2 NM_000548.5(TSC2):c.3401del (p.Gly1134Alafs) Deletion Pathogenic 50076 rs137854314 GRCh37: 16:2130169-2130169
GRCh38: 16:2080164-2080164
16 TSC2 NM_000548.5(TSC2):c.5170C>T (p.Gln1724Ter) SNV Pathogenic 49950 rs45472701 GRCh37: 16:2138237-2138237
GRCh38: 16:2088236-2088236
17 TSC2 NM_000548.5(TSC2):c.1444-2A>G SNV Pathogenic 49633 rs45517174 GRCh37: 16:2114271-2114271
GRCh38: 16:2064270-2064270
18 TSC2 NM_000548.5(TSC2):c.569dup (p.Tyr190Ter) Duplication Pathogenic 50038 rs137854359 GRCh37: 16:2105489-2105490
GRCh38: 16:2055488-2055489
19 TSC2 NM_000548.5(TSC2):c.4318C>T (p.Gln1440Ter) SNV Pathogenic 49524 rs45517337 GRCh37: 16:2134541-2134541
GRCh38: 16:2084540-2084540
20 TSC2 NM_000548.5(TSC2):c.2356-2A>C SNV Pathogenic 49205 rs45517229 GRCh37: 16:2124199-2124199
GRCh38: 16:2074198-2074198
21 TSC2 NM_000548.5(TSC2):c.646G>T (p.Glu216Ter) SNV Pathogenic 49380 rs45517118 GRCh37: 16:2106243-2106243
GRCh38: 16:2056242-2056242
22 TSC2 NM_000548.5(TSC2):c.3696dup (p.Asn1233Ter) Duplication Pathogenic 49539 rs137854210 GRCh37: 16:2131680-2131681
GRCh38: 16:2081679-2081680
23 TSC2 NM_000548.5(TSC2):c.5252_5259+19del Deletion Pathogenic 49366 rs137854397 GRCh37: 16:2138313-2138339
GRCh38: 16:2088312-2088338
24 TSC2 NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter) SNV Pathogenic 49257 rs45451497 GRCh37: 16:2130180-2130180
GRCh38: 16:2080179-2080179
25 TSC2 NM_000548.5(TSC2):c.1953_1954AG[3] (p.Gly654fs) Microsatellite Pathogenic 65311 rs137854144 GRCh37: 16:2121791-2121792
GRCh38: 16:2071790-2071791
26 TSC2 NM_000548.5(TSC2):c.4147_4163dup (p.Pro1389fs) Duplication Pathogenic 65019 rs397515009 GRCh37: 16:2134369-2134370
GRCh38: 16:2084368-2084369
27 TSC2 NM_000548.5(TSC2):c.1255C>T (p.Pro419Ser) SNV Pathogenic 50176 rs45517159 GRCh37: 16:2112007-2112007
GRCh38: 16:2062006-2062006
28 TSC2 NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter) SNV Pathogenic 64885 rs397515297 GRCh37: 16:2114276-2114276
GRCh38: 16:2064275-2064275
29 TSC2 NM_000548.5(TSC2):c.848+1G>A SNV Pathogenic 49922 rs45466296 GRCh37: 16:2107180-2107180
GRCh38: 16:2057179-2057179
30 TSC2 NM_000548.5(TSC2):c.226-2A>G SNV Pathogenic 49200 rs45517096 GRCh37: 16:2103341-2103341
GRCh38: 16:2053340-2053340
31 TSC2 NM_000548.5(TSC2):c.4762C>T (p.Gln1588Ter) SNV Pathogenic 50097 rs45479192 GRCh37: 16:2136293-2136293
GRCh38: 16:2086292-2086292
32 TSC2 NM_000548.5(TSC2):c.4934_4935del (p.Phe1645fs) Deletion Pathogenic 49981 rs137854141 GRCh37: 16:2136816-2136817
GRCh38: 16:2086815-2086816
33 TSC2 NM_000548.5(TSC2):c.4375C>T (p.Arg1459Ter) SNV Pathogenic 49986 rs45517340 GRCh37: 16:2134598-2134598
GRCh38: 16:2084597-2084597
34 TSC2 NM_000548.5(TSC2):c.5160+1G>A SNV Pathogenic 49425 rs45517399 GRCh37: 16:2138141-2138141
GRCh38: 16:2088140-2088140
35 TSC2 NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) SNV Pathogenic 49471 rs45517412 GRCh37: 16:2138294-2138294
GRCh38: 16:2088293-2088293
36 TSC2 NM_000548.5(TSC2):c.2639+1G>C SNV Pathogenic 49845 rs45517252 GRCh37: 16:2125894-2125894
GRCh38: 16:2075893-2075893
37 TSC2 NM_000548.5(TSC2):c.3204_3205TG[1] (p.Val1069fs) Microsatellite Pathogenic 49246 rs137854076 GRCh37: 16:2129349-2129350
GRCh38: 16:2079348-2079349
38 TSC2 NM_000548.5(TSC2):c.4178_4179CT[1] (p.Leu1394fs) Microsatellite Pathogenic 50061 rs137854363 GRCh37: 16:2134401-2134402
GRCh38: 16:2084400-2084401
39 TSC2 NM_000548.5(TSC2):c.1599+1G>A SNV Pathogenic 49646 rs45517182 GRCh37: 16:2114429-2114429
GRCh38: 16:2064428-2064428
40 TSC2 NM_000548.5(TSC2):c.648+1G>A SNV Pathogenic 49410 rs45488893 GRCh37: 16:2106246-2106246
GRCh38: 16:2056245-2056245
41 TSC2 NM_000548.5(TSC2):c.4096G>T (p.Glu1366Ter) SNV Pathogenic 49555 rs45517327 GRCh37: 16:2134319-2134319
GRCh38: 16:2084318-2084318
42 TSC2 NM_000548.5(TSC2):c.4989+1G>A SNV Pathogenic 49468 rs45517386 GRCh37: 16:2136873-2136873
GRCh38: 16:2086872-2086872
43 TSC2 NM_000548.5(TSC2):c.45dup (p.Lys16Ter) Duplication Pathogenic 217252 rs397515020 GRCh37: 16:2098658-2098659
GRCh38: 16:2048657-2048658
44 TSC2 NM_000548.5(TSC2):c.2108G>A (p.Trp703Ter) SNV Pathogenic 49736 rs45517213 GRCh37: 16:2122252-2122252
GRCh38: 16:2072251-2072251
45 TSC2 NM_000548.5(TSC2):c.1160dup (p.Leu388fs) Duplication Pathogenic 237960 rs878854075 GRCh37: 16:2111911-2111912
GRCh38: 16:2061910-2061911
46 TSC2 NM_000548.5(TSC2):c.2098-1G>A SNV Pathogenic 49730 rs45517212 GRCh37: 16:2122241-2122241
GRCh38: 16:2072240-2072240
47 TSC2 NM_000548.5(TSC2):c.2429_2461delinsC (p.Ile810fs) Indel Pathogenic 237989 rs878854082 GRCh37: 16:2124274-2124306
GRCh38: 16:2074273-2074305
48 TSC2 NM_000548.5(TSC2):c.4473del (p.Val1492fs) Deletion Pathogenic 238047 rs397515023 GRCh37: 16:2134694-2134694
GRCh38: 16:2084693-2084693
49 TSC2 NM_000548.5(TSC2):c.2688G>A (p.Trp896Ter) SNV Pathogenic 64888 rs397514913 GRCh37: 16:2126117-2126117
GRCh38: 16:2076116-2076116
50 TSC2 NM_000548.5(TSC2):c.5266del (p.Glu1756fs) Deletion Pathogenic 238080 rs878854118 GRCh37: 16:2138453-2138453
GRCh38: 16:2088452-2088452

UniProtKB/Swiss-Prot genetic disease variations for Tuberous Sclerosis 2:

72 (show top 50) (show all 51)
# Symbol AA change Variation ID SNP ID
1 TSC2 p.Leu292Pro VAR_005646 rs45517138
2 TSC2 p.Tyr407Asp VAR_005647 rs45517156
3 TSC2 p.Met449Ile VAR_005648 rs45443091
4 TSC2 p.Arg611Gln VAR_005650 rs28934872
5 TSC2 p.Arg611Trp VAR_005651 rs45469298
6 TSC2 p.Leu826Met VAR_005652 rs45517238
7 TSC2 p.Arg905Gln VAR_005653 rs45517259
8 TSC2 p.Arg905Trp VAR_005654 rs45517258
9 TSC2 p.Asp1084Glu VAR_005655 rs45517286
10 TSC2 p.Arg1200Trp VAR_005656 rs45438205
11 TSC2 p.Pro1227Leu VAR_005657
12 TSC2 p.Arg1240Trp VAR_005658
13 TSC2 p.Asp1295Val VAR_005659
14 TSC2 p.Tyr1549Cys VAR_005661 rs45517355
15 TSC2 p.Asn1643Ile VAR_005663 rs45517380
16 TSC2 p.Tyr1650Cys VAR_005664 rs45501091
17 TSC2 p.Asp1690Tyr VAR_005665 rs137854882
18 TSC2 p.Ala1712Glu VAR_005666
19 TSC2 p.Leu1750Phe VAR_005667 rs45459299
20 TSC2 p.Cys227Tyr VAR_008020 rs45517122
21 TSC2 p.Asn331Lys VAR_008021 rs45517153
22 TSC2 p.Asn486Ile VAR_008022 rs45486599
23 TSC2 p.Pro816Leu VAR_008026 rs45517236
24 TSC2 p.Val1144Met VAR_008027 rs45517294
25 TSC2 p.Pro1315Ser VAR_008028 rs397514916
26 TSC2 p.Pro1709Leu VAR_008030 rs45517393
27 TSC2 p.Arg1743Gln VAR_008031 rs45507199
28 TSC2 p.His1773Pro VAR_008032 rs45517418
29 TSC2 p.Glu1783Gln VAR_008033 rs777166275
30 TSC2 p.Lys258Asn VAR_009417 rs137854875
31 TSC2 p.Arg261Pro VAR_009418 rs45502703
32 TSC2 p.Gly294Glu VAR_009422 rs45487497
33 TSC2 p.Leu361Pro VAR_009426 rs45517147
34 TSC2 p.Asn525Ser VAR_009432 rs45457694
35 TSC2 p.Lys599Met VAR_009435 rs45517202
36 TSC2 p.Ala614Asp VAR_009436 rs45454398
37 TSC2 p.Cys696Tyr VAR_009439 rs45486196
38 TSC2 p.Leu717Arg VAR_009440 rs45517214
39 TSC2 p.Met895Val VAR_009442 rs45470695
40 TSC2 p.Pro1497Arg VAR_009445 rs45497997
41 TSC2 p.Ser1498Asn VAR_009446 rs137854879
42 TSC2 p.His1620Tyr VAR_009448 rs45446901
43 TSC2 p.Asn1643Lys VAR_009449 rs45517381
44 TSC2 p.Asn1651Ser VAR_009450 rs45517382
45 TSC2 p.Pro1675Leu VAR_009451 rs45483392
46 TSC2 p.Asn1681Lys VAR_009452 rs45476793
47 TSC2 p.Ser1704Thr VAR_009453 rs45474691
48 TSC2 p.Arg1743Pro VAR_009454 rs45507199
49 TSC2 p.Leu1744Pro VAR_009455 rs45517413
50 TSC2 p.Ser1653Phe VAR_018603 rs45517383

Expression for Tuberous Sclerosis 2

Search GEO for disease gene expression data for Tuberous Sclerosis 2.

Pathways for Tuberous Sclerosis 2

Pathways related to Tuberous Sclerosis 2 according to GeneCards Suite gene sharing:

(show top 50) (show all 108)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.27 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
2
Show member pathways
13.92 TSC2 TSC1 RPTOR RHEB MTOR MAPKAPK2
3
Show member pathways
13.65 RPS6KB1 MTOR MAPKAPK2 MAPK14 MAP2K2 IRS1
4
Show member pathways
13.52 TSC2 TSC1 RPS6KB1 MTOR MAPKAPK2 MAPK14
5
Show member pathways
13.49 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
6
Show member pathways
13.36 TSC2 TSC1 RPS6KB1 MAPK14 MAP2K2 IGF1
7
Show member pathways
13.24 TSC2 TSC1 RPTOR RHEB MTOR MAPKAPK2
8
Show member pathways
13.22 TSC2 RPS6KB1 RHEB MTOR MAPK14 MAP2K2
9
Show member pathways
13.16 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
10
Show member pathways
13.15 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
11
Show member pathways
13.11 MTOR MAPK14 MAP2K2 IRS1 IGF1 CALM1
12
Show member pathways
13.09 TSC2 TSC1 RPS6KB1 RHEB MTOR MAPKAPK2
13
Show member pathways
13.06 TSC2 TSC1 RPTOR RHEB MTOR MAPK14
14
Show member pathways
13 RPS6KB1 MTOR MAPKAPK2 MAPK14 MAP2K2 IRS1
15 12.97 RPS6KB1 MTOR MAP2K2 IGF1 IFNG DAPK1
16
Show member pathways
12.95 RPS6KB1 MTOR MAPK14 MAP2K2 IRS1 IGF1
17
Show member pathways
12.93 TSC2 RPS6KB1 RHEB MTOR MAP2K2 IRS1
18
Show member pathways
12.92 RPS6KB1 MTOR MAPK14 MAP2K2 IRS1 EIF4EBP1
19 12.91 TSC2 TSC1 RHEB MTOR IFNG EIF4EBP1
20
Show member pathways
12.88 RPTOR RAB5A MTOR MAPKAPK2 MAPK14 MAP2K2
21
Show member pathways
12.86 MAPK14 MAP2K2 IRS1 IFNG CALM1
22
Show member pathways
12.83 TSC2 TSC1 RPS6KB1 MTOR MAPK14 MAP2K2
23
Show member pathways
12.82 RAB5A MAPK14 MAP2K2 IGF1 CALM1
24
Show member pathways
12.73 RPS6KB1 MTOR MAPK14 MAP2K2 IFNG CALM1
25
Show member pathways
12.69 RPS6KB1 MAPKAPK2 MAPK14 MAP2K2 CALM1
26
Show member pathways
12.67 RPS6KB1 MAP2K2 IRS1 IGF1 CALM1
27
Show member pathways
12.67 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
28
Show member pathways
12.63 RPS6KB1 MTOR MAPK14 MAP2K2 IRS1 EIF4EBP1
29
Show member pathways
12.61 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
30
Show member pathways
12.61 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
31
Show member pathways
12.6 RPS6KB1 MTOR MAP2K2 IGF1 EIF4EBP1
32
Show member pathways
12.59 RPTOR RPS6KB1 MTOR MAPK14 MAP2K2 CALM1
33
Show member pathways
12.58 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
34
Show member pathways
12.57 TSC2 TSC1 RPS6KB1 RHEB MTOR MAP2K2
35
Show member pathways
12.57 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
36
Show member pathways
12.55 MTOR MAPK14 IRS1 EIF4EBP1
37 12.47 RPTOR RPS6KB1 MTOR MAPK14
38
Show member pathways
12.47 RPS6KB1 MTOR MAPK14 MAP2K2 IGF1
39
Show member pathways
12.47 TSC2 RPS6KB1 MTOR IRS1 IGF1 EIF4EBP1
40
Show member pathways
12.45 MAPK14 MAP2K2 IRS1 IGF1 CALM1
41
Show member pathways
12.43 MAPKAPK2 MAPK14 MAP2K2 IFNG CALM1
42 12.43 RPS6KB1 MTOR MAPK14 MAP2K2 IGF1
43 12.42 TSC2 TSC1 RPTOR RPS6KB1 MTOR EIF4EBP1
44
Show member pathways
12.4 TSC2 RPS6KB1 RHEB MTOR MAPK14 MAP2K2
45
Show member pathways
12.39 MTOR MAPK14 MAP2K2 IRS1
46
Show member pathways
12.36 MAPK14 MAP2K2 IGF1 CALM1
47
Show member pathways
12.36 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
48 12.35 RPS6KB1 RAB5A MTOR MAPK14 MAP2K2 EIF4EBP1
49
Show member pathways
12.35 TSC2 TSC1 RPTOR RPS6KB1 MTOR MAPK14
50
Show member pathways
12.34 TSC2 TSC1 RPS6KB1 RHEB MTOR MAPK14

GO Terms for Tuberous Sclerosis 2

Cellular components related to Tuberous Sclerosis 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.97 TSC2 TSC1 RPTOR RPS6KB1 RHEB RAB5A
2 cytoplasm GO:0005737 9.53 TSC2 TSC1 RPTOR RPS6KB1 RHEB RABEP1
3 TORC1 complex GO:0031931 9.26 RPTOR MTOR
4 TSC1-TSC2 complex GO:0033596 8.96 TSC2 TSC1

Biological processes related to Tuberous Sclerosis 2 according to GeneCards Suite gene sharing:

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10.04 NR1H2 MTOR MAPK14 IGF1 IFNG
2 protein phosphorylation GO:0006468 10 RPS6KB1 MTOR MAPKAPK2 MAPK14 MAP2K2 DAPK1
3 phosphorylation GO:0016310 9.95 RPS6KB1 MTOR MAPKAPK2 MAPK14 MAP2K2 DAPK1
4 peptidyl-serine phosphorylation GO:0018105 9.85 RPS6KB1 MTOR MAPKAPK2 MAPK14
5 regulation of translation GO:0006417 9.84 TSC1 RPS6KB1 EIF4EBP1 DAPK1
6 MAPK cascade GO:0000165 9.83 MAPKAPK2 MAPK14 MAP2K2 IRS1 CALM1
7 negative regulation of translation GO:0017148 9.82 TSC1 EIF4EBP1 DAPK1
8 response to nutrient GO:0007584 9.8 SERPINC1 RPS6KB1 MTOR
9 regulation of cellular response to heat GO:1900034 9.78 RPTOR MTOR MAPKAPK2
10 cell cycle arrest GO:0007050 9.78 RPTOR RHEB MTOR IFNG
11 regulation of autophagy GO:0010506 9.77 RPTOR MTOR DAPK1
12 regulation of macroautophagy GO:0016241 9.77 RPTOR RHEB MTOR
13 activation of MAPK activity GO:0000187 9.76 MAPKAPK2 MAPK14 MAP2K2 IGF1
14 positive regulation of smooth muscle cell proliferation GO:0048661 9.75 RPS6KB1 MTOR IGF1
15 phosphatidylinositol-mediated signaling GO:0048015 9.73 RPS6KB1 IRS1 IGF1
16 protein kinase B signaling GO:0043491 9.69 TSC2 RPS6KB1 IGF1
17 positive regulation of glucose import GO:0046326 9.67 MAPK14 IRS1 IGF1
18 response to insulin GO:0032868 9.67 TSC1 RPS6KB1 MTOR IRS1
19 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.66 MTOR CALM1
20 negative regulation of macroautophagy GO:0016242 9.66 TSC1 MTOR
21 positive regulation of myotube differentiation GO:0010831 9.65 MTOR MAPK14
22 positive regulation of cell growth involved in cardiac muscle cell development GO:0061051 9.65 MTOR IGF1
23 cellular response to nutrient levels GO:0031669 9.65 RPTOR MTOR
24 positive regulation of transcription by RNA polymerase III GO:0045945 9.63 RPTOR MTOR
25 anoikis GO:0043276 9.63 TSC2 MTOR
26 cellular response to leucine GO:0071233 9.62 RPTOR MTOR
27 response to nutrient levels GO:0031667 9.62 TSC1 RPS6KB1 NR1H2 MTOR
28 negative regulation of cell size GO:0045792 9.61 TSC1 MTOR
29 TORC1 signaling GO:0038202 9.58 RPTOR MTOR
30 p38MAPK cascade GO:0038066 9.57 MAPKAPK2 MAPK14
31 positive regulation of protein serine/threonine kinase activity GO:0071902 9.46 RPTOR MAP2K2 IFNG CALM1
32 insulin-like growth factor receptor signaling pathway GO:0048009 9.43 TSC2 IRS1 IGF1
33 negative regulation of insulin receptor signaling pathway GO:0046627 9.26 TSC2 TSC1 RPS6KB1 IRS1
34 TOR signaling GO:0031929 8.92 RPTOR RPS6KB1 MTOR EIF4EBP1

Molecular functions related to Tuberous Sclerosis 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.26 TSC2 TSC1 SERPINC1 RPTOR RPS6KB1 RHEB
2 nucleotide binding GO:0000166 10.06 RPS6KB1 RHEB RAB5A MTOR MAPKAPK2 MAPK14
3 protein kinase activity GO:0004672 9.63 RPS6KB1 MTOR MAPKAPK2 MAPK14 MAP2K2 DAPK1
4 RNA polymerase III type 3 promoter sequence-specific DNA binding GO:0001006 9.43 RPTOR MTOR
5 protein serine/threonine kinase activity GO:0004674 9.43 RPS6KB1 MTOR MAPKAPK2 MAPK14 MAP2K2 DAPK1
6 TFIIIC-class transcription factor complex binding GO:0001156 9.4 RPTOR MTOR
7 RNA polymerase III type 2 promoter sequence-specific DNA binding GO:0001003 9.37 RPTOR MTOR
8 RNA polymerase III type 1 promoter sequence-specific DNA binding GO:0001002 9.32 RPTOR MTOR
9 kinase activity GO:0016301 9.17 RPS6KB1 MTOR MAPKAPK2 MAPK14 MAP2K2 DAPK1

Sources for Tuberous Sclerosis 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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