TSC2
MCID: TBR026
MIFTS: 72

Tuberous Sclerosis 2 (TSC2)

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

Aliases & Classifications for Tuberous Sclerosis 2

MalaCards integrated aliases for Tuberous Sclerosis 2:

Name: Tuberous Sclerosis 2 56 12 73 29 6 15 71
Tsc2 Angiomyolipomas, Renal, Modifier of 56 29 6
Tuberous Sclerosis, Type 2 74 39
Tuberous Sclerosis-2 56 13
Tuberous Sclerosis 73 71
Tsc2 56 73
Tuberous Sclerosis Complex 73
Ts 73

Characteristics:

OMIM:

56
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 : 56 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)

MalaCards based summary : Tuberous Sclerosis 2, also known as tsc2 angiomyolipomas, renal, modifier of, is related to angiomyolipoma and heart cancer, 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 Innate Immune System. The drugs Doxycycline and Antiparasitic Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, skin and brain, and related phenotypes are intellectual disability and hypothyroidism

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 : 73 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 : 74 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 866)
# Related Disease Score Top Affiliating Genes
1 angiomyolipoma 32.3 TSC2 TSC1 MTOR
2 heart cancer 32.2 TSC2 TSC1 MTOR
3 corneal dystrophy, fleck 32.1 TSC2 TSC1 MTOR
4 uterus perivascular epithelioid cell tumor 32.1 TSC2 TSC1 RPS6KB1
5 kidney angiomyolipoma 32.0 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
6 kidney benign neoplasm 32.0 TSC2 TSC1 RHEB MTOR
7 uterine benign neoplasm 31.9 TSC2 IGF1 AKT1
8 reproductive organ benign neoplasm 31.9 TSC2 IGF1 AKT1
9 lissencephaly with cerebellar hypoplasia 31.9 TSC2 TSC1
10 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 31.8 TSC2 TSC1 MTOR AKT1
11 cell type benign neoplasm 31.8 TSC2 MTOR IGF1 AKT1
12 autosomal genetic disease 31.8 TSC2 MTOR IGF1 AKT1
13 diabetes mellitus, noninsulin-dependent 31.7 TSC2 TSC1 RPS6KB1 RHEB MTOR MAPK14
14 spinal cord disease 31.7 TSC2 TSC1 RICTOR RHEB MTOR
15 central nervous system benign neoplasm 31.6 TSC2 TSC1 RHEB MTOR IGF1 AKT1
16 proteus syndrome 31.5 TSC2 TSC1 RHEB MTOR AKT1S1 AKT1
17 autosomal dominant polycystic kidney disease 31.0 TSC2 TSC1 MTOR IGF1
18 obstructive hydrocephalus 30.9 TSC2 TSC1 RICTOR
19 cystic kidney disease 30.9 TSC2 TSC1 MTOR AKT1
20 focal cortical dysplasia, type ii 30.9 TSC2 TSC1 MTOR
21 hepatic angiomyolipoma 30.7 TSC2 MTOR
22 pervasive developmental disorder 30.7 TSC2 TSC1 MTOR IGF1 AKT1
23 renal cell carcinoma, nonpapillary 30.7 TSC2 TSC1 MTOR IFNG EIF4EBP1 AKT1
24 exanthem 30.7 MTOR IFNG AKT1
25 benign ependymoma 30.5 TSC2 TSC1 MTOR
26 lymphangioleiomyomatosis 30.2 TSC2 TSC1 RPS6KB1 MTOR IGF1
27 subependymal giant cell astrocytoma 30.2 TSC2 TSC1 RHEB MTOR EIF4EBP1
28 cowden syndrome 1 30.1 TSC2 TSC1 RHEB MTOR AKT1
29 insulin-like growth factor i 30.1 IRS1 IGF1 AKT1
30 polycystic kidney disease 30.1 TSC2 TSC1 MTOR AKT1
31 tuberous sclerosis 29.9 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
32 subependymal glioma 29.8 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
33 kidney cancer 29.8 TSC2 TSC1 MTOR MAPK14 IFNG DAPK1
34 polycystic kidney disease 1 with or without polycystic liver disease 29.8 TSC2 TSC1 MTOR
35 esophageal cancer 29.8 RPS6KB1 MTOR IGF1 IFNG EIF4EBP1 DAPK1
36 myeloma, multiple 29.7 RPS6KB1 MTOR IGF1 IFNG EIF4EBP1 AKT1
37 rhabdomyosarcoma 29.7 RPS6KB1 MTOR IRS1 IGF1 EIF4EBP1 AKT1
38 gastric adenocarcinoma 29.6 MTOR MAPK14 MAP2K2 IGF1 IFNG DAPK1
39 glioblastoma multiforme 29.6 TSC2 TSC1 RPS6KB1 MTOR IGF1 IFNG
40 neuroblastoma 29.3 TSC2 RPS6KB1 MTOR IGF1 IFNG AKT1
41 tuberous sclerosis 1 28.7 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
42 cowden syndrome 28.6 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
43 gilles de la tourette syndrome 12.4
44 turner syndrome 12.1
45 timothy syndrome 12.0
46 polycystic kidney disease, infantile severe, with tuberous sclerosis 11.9
47 virus-associated trichodysplasia spinulosa 11.9
48 west syndrome 11.8
49 hemimegalencephaly 11.7
50 wolff-parkinson-white syndrome 11.7

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 28)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 hypothyroidism 31 HP:0000821
3 subcutaneous nodule 31 HP:0001482
4 autism 31 HP:0000717
5 attention deficit hyperactivity disorder 31 HP:0007018
6 specific learning disability 31 HP:0001328
7 precocious puberty 31 HP:0000826
8 astrocytoma 31 HP:0009592
9 cerebral calcification 31 HP:0002514
10 renal cell carcinoma 31 HP:0005584
11 adenoma sebaceum 31 HP:0009720
12 infantile spasms 31 HP:0012469
13 cafe-au-lait spot 31 HP:0000957
14 renal cyst 31 HP:0000107
15 gingival fibromatosis 31 HP:0000169
16 shagreen patch 31 HP:0009721
17 renal angiomyolipoma 31 HP:0006772
18 wolff-parkinson-white syndrome 31 HP:0001716
19 ependymoma 31 HP:0002888
20 cardiac rhabdomyoma 31 HP:0009729
21 subependymal nodules 31 HP:0009716
22 cortical tubers 31 HP:0009717
23 optic nerve glioma 31 HP:0009734
24 seizure 31 HP:0001250
25 hemimegalencephaly 31 HP:0007206
26 subungual fibromas 31 HP:0009724
27 achromatic retinal patches 31 HP:0009727
28 chordoma 31 HP:0010762

Symptoms via clinical synopsis from OMIM:

56
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

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 43)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10.47 MTOR RHEB
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 10.47 TSC1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 10.47 AKT1 MTOR RHEB
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 10.47 RICTOR
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.47 MTOR RHEB
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 10.47 AKT1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 10.47 TSC1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.47 TSC1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.47 RHEB
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 10.47 TSC1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 10.47 AKT1 MTOR RHEB RICTOR
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-50 10.47 AKT1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.47 MTOR
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-57 10.47 RHEB
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 10.47 RHEB
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 10.47 MTOR
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 10.47 AKT1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-82 10.47 TSC1
19 Decreased viability GR00055-A-1 10.47 DAPK1 MTOR
20 Decreased viability GR00055-A-2 10.47 DAPK1 MTOR
21 Decreased viability GR00221-A-1 10.47 AKT1 DAPK1 IRS1 MAPK14 MLST8 MTOR
22 Decreased viability GR00221-A-2 10.47 AKT1 IRS1 MAPK14
23 Decreased viability GR00221-A-3 10.47 AKT1
24 Decreased viability GR00221-A-4 10.47 AKT1 DAPK1 MLST8 MTOR
25 Decreased viability GR00249-S 10.47 AKT1
26 Decreased viability GR00301-A 10.47 MAPK14 RPS6KB1
27 Decreased viability GR00342-S-1 10.47 DAPK1 MTOR
28 Decreased viability GR00342-S-2 10.47 IRS1 MTOR
29 Decreased viability GR00342-S-3 10.47 IRS1
30 Decreased viability GR00381-A-1 10.47 RPS6KB1
31 Decreased viability GR00386-A-1 10.47 IRS1 MAPK14 RHEB
32 Decreased viability GR00402-S-2 10.47 RPS6KB1
33 Decreased cell migration GR00055-A-1 10.17 RICTOR AKT1 MAP2K2 TSC1
34 Decreased cell migration GR00055-A-3 10.17 DAPK1 MTOR RICTOR
35 Decreased substrate adherent cell growth GR00193-A-1 10.13 RPS6KB1
36 Decreased substrate adherent cell growth GR00193-A-2 10.13 DAPK1 MAPK14 MAPKAPK2 MTOR
37 Decreased substrate adherent cell growth GR00193-A-3 10.13 DAPK1 MAPKAPK2 MAP2K2 RPS6KB1
38 Decreased viability with paclitaxel GR00179-A-1 9.85 MTOR RPS6KB1 IGF1
39 Decreased viability with paclitaxel GR00179-A-2 9.85 MTOR IGF1
40 Decreased viability with paclitaxel GR00179-A-3 9.85 MTOR RPS6KB1
41 Reduced mammosphere formation GR00396-S 9.5 AKT1S1 EIF4EBP1 IGF1 MTOR RHEB RPTOR
42 Decreased cell viability after pRB stimulation GR00230-A-1 9.4 DAPK1 MAPKAPK2
43 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.02 EIF4EBP1 MAP2K2 RPS6KB1 TSC1 TSC2

MGI Mouse Phenotypes related to Tuberous Sclerosis 2:

45 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.47 AKT1 EIF4EBP1 IFNG IGF1 IRS1 MAP2K2
2 homeostasis/metabolism MP:0005376 10.47 AKT1 AKT1S1 DAPK1 DEPTOR EIF4EBP1 IFNG
3 cellular MP:0005384 10.46 AKT1 DAPK1 EIF4EBP1 IFNG IGF1 IRS1
4 growth/size/body region MP:0005378 10.43 AKT1 DEPTOR EIF4EBP1 IFNG IGF1 IRS1
5 embryo MP:0005380 10.39 AKT1 DEPTOR IFNG MAPK14 MAPKAPK2 MLST8
6 mortality/aging MP:0010768 10.36 AKT1 EIF4EBP1 IFNG IGF1 IRS1 MAP2K2
7 hematopoietic system MP:0005397 10.29 AKT1 IFNG IGF1 IRS1 MAPK14 MAPKAPK2
8 endocrine/exocrine gland MP:0005379 10.28 AKT1 IFNG IGF1 IRS1 MAP2K2 MAPK14
9 immune system MP:0005387 10.26 AKT1 IFNG IGF1 IRS1 MAPK14 MAPKAPK2
10 adipose tissue MP:0005375 10.23 AKT1 EIF4EBP1 IGF1 IRS1 MAP2K2 MTOR
11 muscle MP:0005369 10.22 AKT1 EIF4EBP1 IFNG IGF1 IRS1 MAPK14
12 liver/biliary system MP:0005370 10.16 AKT1 DEPTOR IFNG IRS1 MAPK14 RICTOR
13 nervous system MP:0003631 10.1 AKT1 AKT1S1 DAPK1 IFNG IGF1 MAPK14
14 neoplasm MP:0002006 10.07 AKT1 IFNG IGF1 MAP2K2 MAPK14 MAPKAPK2
15 normal MP:0002873 9.91 AKT1 IFNG IGF1 MAP2K2 MAPK14 MAPKAPK2
16 renal/urinary system MP:0005367 9.76 DAPK1 IFNG IGF1 MTOR RICTOR SERPINC1
17 reproductive system MP:0005389 9.7 AKT1 DEPTOR IFNG IGF1 MAPK14 RICTOR
18 skeleton MP:0005390 9.36 AKT1 IFNG IGF1 IRS1 MAP2K2 MAPK14

Drugs & Therapeutics for Tuberous Sclerosis 2

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

(show top 50) (show all 115)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
2 Antiparasitic Agents Phase 4
3 Antiprotozoal Agents Phase 4
4 Antimalarials Phase 4
5
Phenobarbital Approved, Investigational Phase 3 50-06-6 4763
6
Clonazepam Approved, Illicit Phase 3 1622-61-3 2802
7
Phenytoin Approved, Vet_approved Phase 3 57-41-0 1775
8
Clobazam Approved, Illicit Phase 3 22316-47-8 2789
9
Topiramate Approved Phase 3 97240-79-4 5284627
10
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
11
Carbamazepine Approved, Investigational Phase 3 298-46-4 2554
12
Dronabinol Approved, Illicit Phase 3 1972-08-3 16078
13 Strawberry Approved Phase 3
14
Ethanol Approved Phase 3 64-17-5 702
15
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030 46835353
16
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
17
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
18
tannic acid Approved Phase 2, Phase 3 1401-55-4
19
Benzocaine Approved, Investigational Phase 2, Phase 3 94-09-7, 1994-09-7 2337
20
Carvedilol Approved, Investigational Phase 2, Phase 3 72956-09-3 2585
21
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 5280453 134070
22
Melatonin Approved, Nutraceutical, Vet_approved Phase 3 73-31-4 896
23 Trace Elements Phase 3
24 Micronutrients Phase 3
25 Vasoconstrictor Agents Phase 3
26 Vitamins Phase 3
27 Nutrients Phase 3
28 Sunflower Phase 3
29 Pharmaceutical Solutions Phase 3
30 Epidiolex Phase 3
31 Immunosuppressive Agents Phase 2, Phase 3
32 Immunologic Factors Phase 2, Phase 3
33 Anti-Infective Agents Phase 2, Phase 3
34 Anti-Bacterial Agents Phase 2, Phase 3
35 Antifungal Agents Phase 2, Phase 3
36 Antibiotics, Antitubercular Phase 2, Phase 3
37 Calcium, Dietary Phase 2, Phase 3
38 Adrenergic beta-Antagonists Phase 2, Phase 3
39 Antihypertensive Agents Phase 2, Phase 3
40 Adrenergic Antagonists Phase 2, Phase 3
41 Adrenergic Agents Phase 2, Phase 3
42 Vasodilator Agents Phase 2, Phase 3
43 Antioxidants Phase 2, Phase 3
44 Adrenergic alpha-Antagonists Phase 2, Phase 3
45 Adrenergic alpha-1 Receptor Antagonists Phase 2, Phase 3
46 polysaccharide-K Phase 2, Phase 3
47 calcium channel blockers Phase 2, Phase 3
48
Calcium Nutraceutical Phase 2, Phase 3 7440-70-2 271
49
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
50
Fulvestrant Approved, Investigational Phase 2 129453-61-8 104741 17756771

Interventional clinical trials:

(show top 50) (show all 111)
# Name Status NCT ID Phase Drugs
1 A Randomised, Double Blind, Placebo Controlled Trial of Doxycycline in Lymphangioleiomyomatosis. Completed NCT00989742 Phase 4 Doxycycline;Placebo
2 CLINICAL TRIAL TO DETERMINE THE EFFICACY AND SAFETY OF RAPAMYCIN IN ANGIOMYOLIPOMAS IN PATIENTS WITH TUBEROUS SCLEROSIS Completed NCT01217125 Phase 4 Sirolimus
3 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 Active, not recruiting NCT03525834 Phase 4 everolimus
4 Long-term Follow-up Study to Monitor the Growth and Development of Pediatric Patients Previously Treated With Everolimus in Study CRAD001M2301 Active, not recruiting NCT02338609 Phase 4 Everolimus;Envirolimus drug class as prescribed by Physician
5 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
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 Lymphangioleiomyomatosis Efficacy and Safety Trial Unknown status NCT00414648 Phase 3 Sirolimus;Placebo sirolimus
8 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
9 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
10 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
11 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
12 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
13 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)
14 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
15 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
16 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
17 A Double-Blind, Placebo-Controlled, Parallel-Group Study of Cannabidiol Plus Tetrahydrocannabinol (CBD+THC) Given as Adjunctive Therapy in Patients With Refractory Seizures Recruiting NCT03808935 Phase 3 Medical Cannabis;Placebo
18 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
19 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
20 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
21 An Open-label Pilot Study Using Carvedilol-CR as a P-glycoprotein Inhibitor as Adjunct Therapy in the Treatment of Medically-refractory Epilepsy Terminated NCT00524134 Phase 2, Phase 3 Carvedilol-CR
22 EFFECTS OF SIROLIMUS ON DISEASE PROGRESSION IN PATIENTS WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE AND SEVERE RENAL INSUFFICIENCY Terminated NCT01223755 Phase 2, Phase 3 Sirolimus;conventional therapy
23 Prednisolone vs. Vigabatrin in the First-line Treatment of Infantile Spasms Withdrawn NCT02299115 Phase 3 Prednisolone;Vigabatrin
24 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
25 Activity and Safety of Everolimus in Combination With Octreotide LAR and Metformin in Patients With Advanced Pancreatic Well-differentiated Neuroendocrine Tumors (pWDNETs): a Phase II, Open, Monocentric, Prospective Study Unknown status NCT02294006 Phase 2 Everolimus plus Octreotide LAR plus Metformin
26 Phase II Single Arm Trial With Combination of Everolimus and Letrozole in Treatment of Platinum Resistant Relapse or Refractory or Persistent Ovarian Cancer/Endometrial Cancer (CRAD001CUS242T) Unknown status NCT02188550 Phase 2 everolimus and letrozole
27 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)
28 A Phase II Multi-Center Study of Rapamycin for Treating Kidney Angiomyolipomas in TSC or LAM Patients Unknown status NCT00126672 Phase 2 sirolimus
29 Single Arm Phase 2 Study of Metformin and Simvastatin in Addition to Fulvestrant in Metastatic Estrogen Receptor Positive Breast Cancer Unknown status NCT03192293 Phase 2 Metformin/Simvastatin/Fulvestrant
30 Everolimus (RAD001) Therapy for Epilepsy in Patients With Tuberous Sclerosis Complex Completed NCT01070316 Phase 1, Phase 2 Everolimus
31 Rapamycin Therapy of Angiomyolipomas in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457808 Phase 2 Rapamycin, sirolimus
32 Phase II Study of Everolimus in Patients With Advanced Solid Malignancies With TSC1, TSC2, NF1, NF2, or STK11 Mutations Completed NCT02352844 Phase 2 Everolimus
33 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)
34 RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457964 Phase 1, Phase 2 RAD001
35 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
36 Everolimus (RAD001)Therapy of Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex Completed NCT00411619 Phase 1, Phase 2 Everolimus
37 A TRIAL OF LETROZOLE IN PULMONARY LYMPHANGIOLEIOMYOMATOSIS Completed NCT01353209 Phase 2 Letrozole;Placebo
38 Rapalogues for Autism Phenotype in TSC: A Feasibility Study Completed NCT01929642 Phase 2 Sirolimus;Everolimus
39 Phase II Study of Topical Rapamycin to Erase Angiofibromas in TSC-Multicenter Evaluation of a Novel Therapy Completed NCT01526356 Phase 2 Placebo;Rapamycin;Rapamycin
40 Randomized Double-Blind Phase 2 Trial Of RAD001 For Neurocognition In Individuals With Tuberous Sclerosis Complex Completed NCT01289912 Phase 2 RAD001;Placebo
41 An Angiogenic Study in Patients With Well/Moderately Differentiated Metastatic Pancreatic Neuroendocrine Tumors Treated With Everolimus Completed NCT02305810 Phase 2 Everolimus 10 mg daily
42 Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers: Pilot Trial Completed NCT02104011 Phase 2 Propranolol
43 A Single Arm, Multicenter Phase II a Trial of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas That Cannot be Removed by Surgery Completed NCT01412892 Phase 2 RAD001: Everolimus
44 The ScanBrit Randomised Controlled Study of Gluten- and Casein-free Dietary Intervention for Children With Autism Spectrum Disorders Completed NCT00614198 Phase 2
45 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
46 A Phase II, Randomized, Placebo Controlled Study to Evaluate the Efficacy of the Combination of Gemcitabine, Erlotinib and Metformin in Patients With Locally Advanced and Metastatic Pancreatic Cancer Completed NCT01210911 Phase 2 gemcitabine;erlotinib;metformin;placebo
47 Sirolimus Treatment in Patients With ADPKD Completed NCT00491517 Phase 2 Sirolimus;conventional therapy
48 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
49 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
50 Safety and Efficacy of Saracatinib In Subjects With Lymphangioleiomyomatosis Recruiting NCT02737202 Phase 2 saracatinib

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, Skin, Brain, Heart, Lung, Liver, Eye

Publications for Tuberous Sclerosis 2

Articles related to Tuberous Sclerosis 2:

(show top 50) (show all 165)
# Title Authors PMID Year
1
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. 6 56
17120248 2006
2
Discordant clinical manifestations in monozygotic twins with the identical mutation in the TSC2 gene. 56 6
12752578 2003
3
Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients. 6 56
12192641 2002
4
A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex. 6 56
11403047 2001
5
Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex. 56 6
8825048 1996
6
A de novo frame-shift mutation in the tuberin gene. 6 56
7581393 1995
7
Somatic mosaicism and clinical variation in tuberous sclerosis complex. 56 6
7823706 1995
8
Mutation and cancer: statistical study of retinoblastoma. 56 6
5279523 1971
9
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 6
27854360 2017
10
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
11
Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex. 56
25288394 2014
12
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
13
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 6
23519317 2013
14
Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population. 56
21266383 2011
15
Three independent mutations in the TSC2 gene in a family with tuberous sclerosis. 6
19259131 2009
16
TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex. 56
19419980 2009
17
Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex. 56
19332694 2009
18
Tuberous sclerosis. 56
18722871 2008
19
Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations. 56
18032745 2008
20
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. 56
17304050 2007
21
The tuberous sclerosis complex. 56
17005952 2006
22
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. 56
15798777 2005
23
Homozygosis for (12) CA repeats in the first intron of the human IFN-gamma gene is significantly associated with the risk of aplastic anaemia in Caucasian population. 6
15327519 2004
24
Genotype and psychological phenotype in tuberous sclerosis. 56
14985384 2004
25
SNP identification, haplotype analysis, and parental origin of mutations in TSC2. 56
12136241 2002
26
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. 56
11112665 2001
27
Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. 6
10823953 2000
28
Complete inactivation of the TSC2 gene leads to formation of hamartomas. 6
10577937 1999
29
Tuberous Sclerosis Complex 6
20301399 1999
30
Prenatal diagnosis of tuberous sclerosis with intracerebral signs at 14 weeks' gestation. 56
10416977 1999
31
High rate of mosaicism in tuberous sclerosis complex. 56
10330349 1999
32
Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood. 6
10206124 1999
33
Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst. 6
10069705 1999
34
Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. 56
9881533 1998
35
Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis. 6
9361032 1997
36
The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. 6
9302281 1997
37
Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. 6
8824881 1996
38
Mutation analysis of the TSC2 gene in an African-American family. 6
8634701 1995
39
Two loci for tuberous sclerosis: one on 9q34 and one on 16p13. 56
7979156 1994
40
Non-penetrance in tuberous sclerosis. 6
1870099 1991
41
Achondroplasia in two sisters with normal parents. 6
4461062 1974
42
Correction: The p38 and MK2 kinase cascade phosphorylates tuberin, the tuberous sclerosis 2 gene product, and enhances its interaction with 14-3-3. 61
30979849 2019
43
TFEB-driven endocytosis coordinates MTORC1 signaling and autophagy. 61
30145926 2019
44
Mammalian target of rapamycin inhibitors in a patient with polycystic kidney disease-1-tuberous sclerosis-2 contiguous gene syndrome. 61
30588981 2018
45
Whole egg, but not egg white, ingestion induces mTOR colocalization with the lysosome after resistance exercise. 61
30133322 2018
46
MTOR Suppresses Cigarette Smoke-Induced Epithelial Cell Death and Airway Inflammation in Chronic Obstructive Pulmonary Disease. 61
29507104 2018
47
Regulation of Kisspeptin Synthesis and Release in the Preoptic/Anterior Hypothalamic Region of Prepubertal Female Rats: Actions of IGF-1 and Alcohol. 61
29072778 2018
48
Novel Inflammatory Neuropathology in Immature Brain: (1) Fetal Tuberous Sclerosis, (2) Febrile Seizures, (3) α-B-crystallin, and (4) Role of Astrocytes. 61
29103422 2017
49
Chronic signaling via the metabolic checkpoint kinase mTORC1 induces macrophage granuloma formation and marks sarcoidosis progression. 61
28092373 2017
50
Initial experience with endoscopic ultrasonic aspirator in purely neuroendoscopic removal of intraventricular tumors. 61
28084922 2017

Variations for Tuberous Sclerosis 2

ClinVar genetic disease variations for Tuberous Sclerosis 2:

6 (show top 50) (show all 3032) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TSC2 NC_000016.9:g.(?_2098645)_(2130379_2131595)deldeletion Pathogenic 397515 16:2098645-2131595 16:2048644-2081594
2 TSC2 NM_000548.5(TSC2):c.5168C>G (p.Ser1723Ter)SNV Pathogenic 397548 rs1060499676 16:2138235-2138235 16:2088234-2088234
3 TSC2 NM_000548.5(TSC2):c.1582del (p.Leu528fs)deletion Pathogenic 403720 rs1060499647 16:2114411-2114411 16:2064410-2064410
4 TSC2 NM_000548.5(TSC2):c.2539_2540del (p.Leu847fs)deletion Pathogenic 406020 rs1060500938 16:2124384-2124385 16:2074383-2074384
5 TSC2 NM_000548.3(TSC2):c.3884-497_5045deldeletion Pathogenic 406064 16:2133199-2137919 16:2083198-2087918
6 TSC2 NM_000548.5(TSC2):c.1474C>T (p.Gln492Ter)SNV Pathogenic 405998 rs1060500931 16:2114303-2114303 16:2064302-2064302
7 TSC2 NM_000548.5(TSC2):c.5281_5296del (p.Ser1761fs)deletion Pathogenic 406134 rs1064792923 16:2138462-2138477 16:2088461-2088476
8 TSC2 NC_000016.10:g.(?_2053342)_(2060813_?)deldeletion Pathogenic 417365 16:2103343-2110814 16:2053342-2060813
9 TSC2 NM_000548.5(TSC2):c.421G>T (p.Glu141Ter)SNV Pathogenic 405985 rs1060500924 16:2104381-2104381 16:2054380-2054380
10 TSC2 NM_000548.5(TSC2):c.2009del (p.Pro670fs)deletion Pathogenic 406011 rs1060500934 16:2121846-2121846 16:2071845-2071845
11 TSC2 NM_000548.5(TSC2):c.3132-1G>TSNV Pathogenic 406021 rs45443096 16:2129276-2129276 16:2079275-2079275
12 TSC2 NC_000016.10:g.(?_2048587)_(2065635_?)deldeletion Pathogenic 417364 16:2098588-2115636 16:2048587-2065635
13 TSC2 NM_000548.5(TSC2):c.2661_2664del (p.Cys887fs)deletion Pathogenic 405955 rs1060500914 16:2126088-2126091 16:2076087-2076090
14 TSC2 NM_000548.5(TSC2):c.4951_4957del (p.Asn1651fs)deletion Pathogenic 406053 rs1060500950 16:2136834-2136840 16:2086833-2086839
15 TSC2 NM_000548.5(TSC2):c.4936G>A (p.Val1646Met)SNV Pathogenic 424444 rs1064796970 16:2136819-2136819 16:2086818-2086818
16 TSC2 NM_000548.5(TSC2):c.358A>T (p.Arg120Ter)SNV Pathogenic 429805 rs1131691602 16:2104318-2104318 16:2054317-2054317
17 TSC2 NM_000548.5(TSC2):c.500G>A (p.Trp167Ter)SNV Pathogenic 430129 rs1131691794 16:2105421-2105421 16:2055420-2055420
18 TSC2 NC_000016.9:g.2124200_2138612dupduplication Pathogenic 437412 16:2124200-2138612 16:2074199-2088611
19 TSC2 NM_000548.5(TSC2):c.1119+1G>CSNV Pathogenic 444097 rs45475793 16:2110815-2110815 16:2060814-2060814
20 TSC2 NM_000548.5(TSC2):c.5068+2T>CSNV Pathogenic 449636 rs397515152 16:2137944-2137944 16:2087943-2087943
21 TSC2 NC_000016.9:g.(?_2098597)_(2150587_?)deldeletion Pathogenic 467836 16:2098597-2150587
22 TSC2 NM_000548.5(TSC2):c.1549G>T (p.Glu517Ter)SNV Pathogenic 467879 rs1555502518 16:2114378-2114378 16:2064377-2064377
23 TSC2 NM_000548.5(TSC2):c.1559_1560AC[5] (p.His523fs)short repeat Pathogenic 467880 rs1555502530 16:2114386-2114387 16:2064385-2064386
24 TSC2 NM_000548.5(TSC2):c.1609dup (p.Arg537fs)duplication Pathogenic 467884 rs1555503131 16:2115526-2115527 16:2065525-2065526
25 TSC2 NM_000548.5(TSC2):c.1762_1763GA[1] (p.Glu588fs)short repeat Pathogenic 467893 rs1555505103 16:2120502-2120503 16:2070501-2070502
26 TSC2 NM_000548.5(TSC2):c.4344_4346delinsTT (p.Arg1451fs)indel Pathogenic 468082 rs1555514354 16:2134567-2134569 16:2084566-2084568
27 TSC2 NC_000016.9:g.(?_2098597)_(2130398_?)deldeletion Pathogenic 467835 16:2098597-2130398
28 TSC2 NC_000016.10:g.(?_2048596)_(2048773_?)deldeletion Pathogenic 467833 16:2048596-2048773
29 TSC2 NC_000016.9:g.(?_2100381)_(2100507_?)deldeletion Pathogenic 467839 16:2100381-2100507
30 TSC2 NC_000016.9:g.(?_2098597)_(2115656_?)deldeletion Pathogenic 467834 16:2098597-2115656
31 TSC2 NC_000016.9:g.(?_2122222)_(2127477_?)deldeletion Pathogenic 467840 16:2122222-2127477
32 TSC2 NM_000548.5(TSC2):c.1282del (p.Ser428fs)deletion Pathogenic 467857 rs1555501373 16:2112522-2112522 16:2062521-2062521
33 TSC2 NM_000548.5(TSC2):c.136_138+1deldeletion Pathogenic 467865 rs137854117 16:2098751-2098754 16:2048750-2048753
34 TSC2 NM_000548.5(TSC2):c.1839+2T>CSNV Pathogenic 467900 rs1555505211 16:2120581-2120581 16:2070580-2070580
35 TSC2 NM_000548.5(TSC2):c.3610+1G>CSNV Pathogenic 468027 rs45517299 16:2130379-2130379 16:2080378-2080378
36 TSC2 NM_000548.5(TSC2):c.3759del (p.Ser1254fs)deletion Pathogenic 468037 rs1555512497 16:2131744-2131744 16:2081743-2081743
37 TSC2 NM_000548.5(TSC2):c.1839G>C (p.Gln613His)SNV Pathogenic 467902 rs1555505208 16:2120579-2120579 16:2070578-2070578
38 TSC2 NM_000548.5(TSC2):c.2086_2089delinsCG (p.Cys696fs)indel Pathogenic 467922 rs1555506201 16:2121924-2121927 16:2071923-2071926
39 TSC2 NM_000548.5(TSC2):c.4571C>G (p.Ser1524Ter)SNV Pathogenic 468103 rs1441428144 16:2135232-2135232 16:2085231-2085231
40 TSC2 NC_000016.10:g.(?_2056176)_(2074415_?)deldeletion Pathogenic 536119 16:2106177-2124416 16:2056176-2074415
41 TSC2 NC_000016.10:g.(?_2048610)_(2088616_?)deldeletion Pathogenic 536113 16:2098611-2138617 16:2048610-2088616
42 TSC2 NM_000548.5(TSC2):c.710dup (p.Leu238fs)duplication Pathogenic 535901 rs397515166 16:2106703-2106704 16:2056702-2056703
43 TSC2 NM_000548.5(TSC2):c.4135_4160dup (p.Ser1388_Pro1389insArgSerProTer)duplication Pathogenic 535912 rs1555514034 16:2134356-2134357 16:2084355-2084356
44 TSC2 NM_000548.5(TSC2):c.5064_5065delinsTT (p.Arg1688_Lys1689delinsSerTer)indel Pathogenic 535874 rs1555439847 16:2137938-2137939 16:2087937-2087938
45 TSC2 NM_000548.5(TSC2):c.4437_4440delinsTTT (p.Lys1481fs)indel Pathogenic 535921 rs1555514548 16:2134660-2134663 16:2084659-2084662
46 TSC2 NC_000016.10:g.(?_2086173)_(2112493_?)deldeletion Pathogenic 536115 16:2136174-2162494 16:2086173-2112493
47 TSC2 NC_000016.10:g.(?_2087857)_(2088616_?)deldeletion Pathogenic 536112 16:2137858-2138617 16:2087857-2088616
48 TSC2 NM_000548.5(TSC2):c.475G>T (p.Glu159Ter)SNV Pathogenic 535913 rs1555497714 16:2104435-2104435 16:2054434-2054434
49 TSC2 NM_000548.5(TSC2):c.1047dup (p.Arg350Ter)duplication Pathogenic 535947 rs1555500535 16:2110741-2110742 16:2060740-2060741
50 TSC2 NM_000548.5(TSC2):c.336+1G>CSNV Pathogenic 535935 rs45517102 16:2103454-2103454 16:2053453-2053453

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

73 (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 134)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.32 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
2
Show member pathways
14.14 TSC2 RICTOR MTOR MLST8 MAPKAPK2 MAPK14
3
Show member pathways
13.97 TSC2 TSC1 RPTOR RHEB MTOR MAPKAPK2
4
Show member pathways
13.94 TSC2 TSC1 RPTOR RICTOR RHEB MTOR
5
Show member pathways
13.69 RPS6KB1 MTOR MAPKAPK2 MAPK14 MAP2K2 IRS1
6
Show member pathways
13.59 TSC2 TSC1 RPS6KB1 MTOR MAPKAPK2 MAPK14
7
Show member pathways
13.49 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
8
Show member pathways
13.42 TSC2 TSC1 RPS6KB1 MAPK14 MAP2K2 IGF1
9
Show member pathways
13.36 RPS6KB1 MTOR MAPK14 MAP2K2 IRS1 IGF1
10
Show member pathways
13.32 TSC2 TSC1 RPTOR RHEB MTOR MLST8
11
Show member pathways
13.27 TSC2 RPS6KB1 RHEB MTOR MAPK14 MAP2K2
12
Show member pathways
13.25 TSC2 RICTOR MTOR MLST8 IRS1 AKT1S1
13
Show member pathways
13.2 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
14
Show member pathways
13.17 TSC2 TSC1 RPTOR RICTOR RHEB MTOR
15
Show member pathways
13.15 TSC2 TSC1 RPS6KB1 RHEB MTOR MAPKAPK2
16
Show member pathways
13.11 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
17
Show member pathways
13.08 TSC2 RPS6KB1 RHEB MTOR MAP2K2 IRS1
18
Show member pathways
13.06 RPS6KB1 MTOR MAPKAPK2 MAPK14 MAP2K2 IRS1
19 13.02 RPS6KB1 MTOR MAP2K2 IGF1 IFNG DAPK1
20
Show member pathways
13.01 TSC2 RPTOR MAPKAPK2 MAP2K2 IRS1 DAPK1
21
Show member pathways
12.98 RPS6KB1 MTOR MAPK14 MAP2K2 IRS1 EIF4EBP1
22 12.98 TSC2 TSC1 RHEB MTOR IFNG EIF4EBP1
23
Show member pathways
12.98 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
24
Show member pathways
12.94 RPTOR MTOR MLST8 MAPKAPK2 MAPK14 MAP2K2
25
Show member pathways
12.92 TSC2 RICTOR MTOR MLST8 IRS1 AKT1S1
26
Show member pathways
12.89 TSC2 TSC1 RPS6KB1 MTOR MAPK14 MAP2K2
27
Show member pathways
12.87 RPS6KB1 MTOR MAP2K2 IRS1 AKT1
28 12.86 MAPKAPK2 MAPK14 MAP2K2 IGF1 AKT1
29
Show member pathways
12.86 RPS6KB1 MTOR MAP2K2 IGF1 AKT1
30
Show member pathways
12.86 TSC2 RPS6KB1 RHEB MTOR MAPK14 MAP2K2
31
Show member pathways
12.84 MTOR MAPK14 MAP2K2 IRS1 IGF1 AKT1
32
Show member pathways
12.79 RPS6KB1 MAPK14 MAP2K2 IFNG AKT1
33
Show member pathways
12.79 RPS6KB1 MTOR MAP2K2 IGF1 EIF4EBP1 AKT1
34
Show member pathways
12.77 RPS6KB1 MTOR MAPK14 MAP2K2 IFNG AKT1
35
Show member pathways
12.72 RPS6KB1 MAPK14 IFNG EIF4EBP1 AKT1
36
Show member pathways
12.71 RPS6KB1 MAPKAPK2 MAPK14 MAP2K2 AKT1
37
Show member pathways
12.7 RPS6KB1 MAP2K2 IRS1 IGF1 AKT1
38
Show member pathways
12.7 RPS6KB1 MTOR MAPK14 MAP2K2 IRS1 EIF4EBP1
39
Show member pathways
12.67 RPTOR RPS6KB1 MTOR MAPK14 MAP2K2 AKT1S1
40
Show member pathways
12.64 TSC2 TSC1 RPS6KB1 RHEB MTOR MAP2K2
41
Show member pathways
12.63 MTOR MAPK14 IRS1 EIF4EBP1 AKT1
42
Show member pathways
12.63 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
43
Show member pathways
12.62 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
44 12.59 RPTOR RPS6KB1 MTOR MAPK14 AKT1S1 AKT1
45
Show member pathways
12.58 TSC2 TSC1 RPS6KB1 RHEB MTOR MAPK14
46
Show member pathways
12.58 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
47
Show member pathways
12.55 TSC2 RPS6KB1 MTOR IRS1 IGF1 EIF4EBP1
48
Show member pathways
12.54 RPS6KB1 MTOR MAPK14 MAP2K2 EIF4EBP1 AKT1
49
Show member pathways
12.53 MTOR MAPK14 MAP2K2 AKT1
50 12.52 TSC2 TSC1 RPTOR RPS6KB1 RICTOR MTOR

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 cytoplasm GO:0005737 10.2 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
2 cytosol GO:0005829 10.03 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
3 TSC1-TSC2 complex GO:0033596 9.26 TSC2 TSC1
4 TORC2 complex GO:0031932 9.13 RICTOR MTOR MLST8
5 TORC1 complex GO:0031931 8.92 RPTOR MTOR MLST8 AKT1S1

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

(show all 48)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 10.15 RPS6KB1 MTOR MAPKAPK2 MAPK14 MAP2K2 DAPK1
2 protein phosphorylation GO:0006468 10.13 RPS6KB1 MTOR MAPKAPK2 MAPK14 MAP2K2 DAPK1
3 intracellular signal transduction GO:0035556 10.09 RPS6KB1 MAPKAPK2 MAPK14 DEPTOR DAPK1 AKT1
4 positive regulation of gene expression GO:0010628 10.08 MTOR MAPK14 IGF1 IFNG AKT1
5 MAPK cascade GO:0000165 10 MAPKAPK2 MAPK14 MAP2K2 IRS1
6 protein autophosphorylation GO:0046777 9.95 MTOR MAPKAPK2 DAPK1 AKT1
7 regulation of translation GO:0006417 9.95 TSC1 RPS6KB1 EIF4EBP1 DAPK1 AKT1
8 activation of MAPK activity GO:0000187 9.92 MAPKAPK2 MAPK14 MAP2K2 IGF1
9 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.91 RICTOR MTOR MLST8 IGF1
10 cell cycle arrest GO:0007050 9.91 RPTOR RHEB MTOR MLST8 IFNG
11 negative regulation of protein kinase activity GO:0006469 9.9 TSC2 DEPTOR AKT1S1 AKT1
12 positive regulation of endothelial cell proliferation GO:0001938 9.88 RPTOR RICTOR MTOR AKT1
13 insulin receptor signaling pathway GO:0008286 9.87 IRS1 EIF4EBP1 AKT1
14 regulation of GTPase activity GO:0043087 9.87 RICTOR MTOR MLST8
15 regulation of macroautophagy GO:0016241 9.87 RPTOR RHEB MTOR MLST8
16 negative regulation of translation GO:0017148 9.86 TSC1 EIF4EBP1 DAPK1
17 regulation of actin cytoskeleton organization GO:0032956 9.86 RICTOR MTOR MLST8
18 regulation of autophagy GO:0010506 9.86 RPTOR MTOR DAPK1
19 response to insulin GO:0032868 9.85 TSC1 MTOR IRS1
20 positive regulation of smooth muscle cell proliferation GO:0048661 9.84 MTOR IGF1 AKT1
21 positive regulation of protein serine/threonine kinase activity GO:0071902 9.84 RPTOR MLST8 MAP2K2 IFNG
22 phosphatidylinositol-mediated signaling GO:0048015 9.83 RPS6KB1 IRS1 IGF1
23 positive regulation of actin filament polymerization GO:0030838 9.83 RICTOR MTOR MLST8
24 positive regulation of nitric oxide biosynthetic process GO:0045429 9.82 MTOR IFNG AKT1
25 protein kinase B signaling GO:0043491 9.81 TSC2 IGF1 AKT1
26 phosphatidylinositol 3-kinase signaling GO:0014065 9.81 IRS1 IGF1 AKT1
27 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.8 MAPKAPK2 MAPK14 AKT1
28 peptidyl-serine phosphorylation GO:0018105 9.8 RPS6KB1 RICTOR MTOR MAPKAPK2 MAPK14 AKT1
29 positive regulation of glucose import GO:0046326 9.78 MAPK14 IRS1 IGF1 AKT1
30 positive regulation of glycogen biosynthetic process GO:0045725 9.77 IRS1 IGF1 AKT1
31 regulation of cellular response to heat GO:1900034 9.77 RPTOR MTOR MLST8 MAPKAPK2 AKT1S1
32 negative regulation of insulin receptor signaling pathway GO:0046627 9.76 TSC2 TSC1 RPS6KB1 IRS1
33 negative regulation of macroautophagy GO:0016242 9.73 TSC1 MTOR AKT1
34 positive regulation of TOR signaling GO:0032008 9.73 RPTOR RICTOR RHEB MLST8
35 negative regulation of TOR signaling GO:0032007 9.71 TSC2 TSC1 DEPTOR AKT1S1
36 positive regulation of cell growth involved in cardiac muscle cell development GO:0061051 9.7 MTOR IGF1
37 cellular response to nutrient levels GO:0031669 9.7 RPTOR MTOR
38 anoikis GO:0043276 9.7 TSC2 MTOR AKT1
39 regulation of glycogen biosynthetic process GO:0005979 9.69 MTOR AKT1
40 cellular response to leucine GO:0071233 9.67 RPTOR MTOR
41 positive regulation of transcription by RNA polymerase III GO:0045945 9.67 RPTOR MTOR
42 positive regulation of glucose metabolic process GO:0010907 9.67 IRS1 AKT1
43 TORC1 signaling GO:0038202 9.67 RPTOR MTOR MLST8
44 p38MAPK cascade GO:0038066 9.66 MAPKAPK2 MAPK14
45 insulin-like growth factor receptor signaling pathway GO:0048009 9.56 TSC2 IRS1 IGF1 AKT1
46 activation of protein kinase B activity GO:0032148 9.55 RICTOR MTOR MLST8 IGF1 AKT1
47 negative regulation of cell size GO:0045792 9.35 TSC1 MTOR DEPTOR AKT1S1 AKT1
48 TOR signaling GO:0031929 9.17 RPTOR RPS6KB1 RICTOR MTOR MLST8 EIF4EBP1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 10.14 RPS6KB1 RHEB MTOR MAPKAPK2 MAPK14 MAP2K2
2 protein binding GO:0005515 9.96 TSC2 TSC1 SERPINC1 RPTOR RPS6KB1 RICTOR
3 protein kinase binding GO:0019901 9.92 RPTOR RICTOR RHEB MTOR AKT1
4 kinase activity GO:0016301 9.8 RPS6KB1 MTOR MAPKAPK2 MAPK14 MAP2K2 DAPK1
5 protein kinase activity GO:0004672 9.7 RPS6KB1 MTOR MAPKAPK2 MAPK14 MAP2K2 DAPK1
6 GTPase activating protein binding GO:0032794 9.55 TSC1 AKT1
7 RNA polymerase III type 3 promoter sequence-specific DNA binding GO:0001006 9.51 RPTOR MTOR
8 protein serine/threonine/tyrosine kinase activity GO:0004712 9.5 RPS6KB1 MAP2K2 AKT1
9 RNA polymerase III type 3 promoter DNA binding GO:0001032 9.49 RPTOR MTOR
10 RNA polymerase III type 2 promoter sequence-specific DNA binding GO:0001003 9.48 RPTOR MTOR
11 RNA polymerase III type 1 promoter sequence-specific DNA binding GO:0001002 9.46 RPTOR MTOR
12 TFIIIC-class transcription factor complex binding GO:0001156 9.43 RPTOR MTOR
13 RNA polymerase III type 2 promoter DNA binding GO:0001031 9.4 RPTOR MTOR
14 RNA polymerase III type 1 promoter DNA binding GO:0001030 9.37 RPTOR MTOR
15 protein serine/threonine kinase activity GO:0004674 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....