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TSC2
MCID: TBR026
MIFTS: 71

Tuberous Sclerosis 2 (TSC2)

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Tuberous Sclerosis 2

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Nephrological diseases Skin diseases Respiratory diseases
See all MalaCards categories (disease lists)


Sources

Summaries for Tuberous Sclerosis 2

About this section
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 kidney angiomyolipoma and uterus perivascular epithelioid cell tumor, 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 Doxycycline and Antimalarials have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and skin, and related phenotypes are intellectual disability and seizures

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...

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Related Diseases for Tuberous Sclerosis 2

About this section

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 860)
# Related Disease Score Top Affiliating Genes
1 kidney angiomyolipoma 32.6 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
2 uterus perivascular epithelioid cell tumor 32.0 TSC2 TSC1 RPS6KB1
3 angiomyolipoma 32.0 TSC2 TSC1 RPS6KB1 MTOR
4 cell type benign neoplasm 32.0 TSC2 TSC1 MTOR IGF1
5 lissencephaly with cerebellar hypoplasia 32.0 TSC2 TSC1
6 proteus syndrome 31.9 TSC2 TSC1 RHEB MTOR
7 spinal cord disease 31.9 TSC2 TSC1 RHEB MTOR
8 central nervous system benign neoplasm 31.8 TSC2 TSC1 RHEB MTOR IGF1
9 diabetes mellitus, noninsulin-dependent 31.7 TSC2 TSC1 RPS6KB1 RHEB NR1H2 MTOR
10 kidney benign neoplasm 31.7 TSC2 TSC1 RPS6KB1 RHEB MTOR
11 subependymal glioma 31.3 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
12 hepatic angiomyolipoma 31.1 TSC2 TSC1 MTOR
13 autosomal dominant polycystic kidney disease 31.0 TSC2 TSC1 MTOR IGF1
14 focal cortical dysplasia, type ii 30.9 TSC2 TSC1 MTOR
15 tuberous sclerosis 30.4 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
16 benign ependymoma 30.4 TSC2 TSC1 MTOR
17 subependymal giant cell astrocytoma 30.3 TSC2 TSC1 RHEB MTOR
18 cowden syndrome 1 30.3 TSC2 TSC1 RHEB MTOR
19 lymphangioleiomyomatosis 30.2 TSC2 TSC1 RPS6KB1 MTOR IGF1
20 kidney cancer 30.1 TSC2 TSC1 MTOR IFNG DAPK1
21 tuberous sclerosis 1 30.1 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
22 aortic disease 30.0 TSC2 TSC1 RPS6KB1
23 polycystic kidney disease 1 with or without polycystic liver disease 30.0 TSC2 TSC1 MTOR
24 rhabdomyosarcoma 29.8 RPS6KB1 MTOR IRS1 IGF1 EIF4EBP1
25 gastric adenocarcinoma 29.8 MTOR MAPK14 MAP2K2 IGF1 IFNG DAPK1
26 myeloma, multiple 29.8 RPS6KB1 MTOR IGF1 IFNG EIF4EBP1
27 glioblastoma multiforme 29.7 TSC2 TSC1 RPS6KB1 MTOR IGF1 IFNG
28 cowden syndrome 29.6 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
29 gilles de la tourette syndrome 12.4
30 turner syndrome 12.1
31 timothy syndrome 12.0
32 polycystic kidney disease, infantile severe, with tuberous sclerosis 11.9
33 virus-associated trichodysplasia spinulosa 11.9
34 west syndrome 11.8
35 hemimegalencephaly 11.7
36 wolff-parkinson-white syndrome 11.7
37 temperature sensitivity complementation, cell cycle specific, k12 11.6
38 inherited cancer-predisposing syndrome 11.6
39 soft tissue sarcoma 11.6
40 hepatocellular carcinoma 11.5
41 renal oncocytoma 11.4
42 trichostasis spinulosa 11.3
43 cafe-au-lait spots, multiple 11.3
44 glioma susceptibility 1 11.3
45 spinal cancer 11.3
46 brain and spinal tumors 11.3
47 hereditary renal cell carcinoma 11.3
48 methylmalonic acidemia 11.3
49 schizoid personality disorder 11.2
50 albinism, oculocutaneous, type ib 11.2

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



Diseases related to Tuberous Sclerosis 2
Sources

Symptoms & Phenotypes for Tuberous Sclerosis 2

About this section

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 seizures 31 HP:0001250
3 cerebral calcification 31 HP:0002514
4 hypothyroidism 31 HP:0000821
5 precocious puberty 31 HP:0000826
6 renal cyst 31 HP:0000107
7 cafe-au-lait spot 31 HP:0000957
8 subcutaneous nodule 31 HP:0001482
9 autism 31 HP:0000717
10 attention deficit hyperactivity disorder 31 HP:0007018
11 specific learning disability 31 HP:0001328
12 wolff-parkinson-white syndrome 31 HP:0001716
13 renal cell carcinoma 31 HP:0005584
14 astrocytoma 31 HP:0009592
15 infantile spasms 31 HP:0012469
16 adenoma sebaceum 31 HP:0009720
17 shagreen patch 31 HP:0009721
18 subependymal nodules 31 HP:0009716
19 cortical tubers 31 HP:0009717
20 cardiac rhabdomyoma 31 HP:0009729
21 renal angiomyolipoma 31 HP:0006772
22 gingival fibromatosis 31 HP:0000169
23 ependymoma 31 HP:0002888
24 hemimegalencephaly 31 HP:0007206
25 optic nerve glioma 31 HP:0009734
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:
hyperactivity
autism
attention deficit disorder

Cardiovascular Heart:
cardiac rhabdomyoma
wolf-parkinson-white syndrome

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
Neoplasia:
ependymoma
chordoma
renal carcinoma
myocardial rhabdomyoma
multiple bilateral renal angiomyolipoma
more
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, pain, headache, syncope, chronic pain, sciatica, vertigo/dizziness, sleeplessness

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

26 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.65 DAPK1 MTOR
2 Decreased viability GR00221-A-1 10.65 MAPK14 RPS6KB1 DAPK1 IRS1 MTOR RHEB
3 Decreased viability GR00221-A-2 10.65 CALM1 MAPK14 TSC1 IRS1
4 Decreased viability GR00221-A-3 10.65 CALM1 TSC1
5 Decreased viability GR00221-A-4 10.65 CALM1 DAPK1 MTOR
6 Decreased viability GR00301-A 10.65 CALM1 MAPK14 RPS6KB1 TSC1
7 Decreased viability GR00342-S-1 10.65 DAPK1 MTOR
8 Decreased viability GR00342-S-2 10.65 IRS1 MTOR
9 Decreased viability GR00342-S-3 10.65 IRS1
10 Decreased viability GR00381-A-1 10.65 RPS6KB1
11 Decreased viability GR00402-S-2 10.65 CALM1 MAPK14 RPS6KB1 TSC1 DAPK1 IRS1
12 Decreased viability with paclitaxel GR00179-A-1 10.19 MTOR RPS6KB1 IGF1
13 Decreased viability with paclitaxel GR00179-A-2 10.19 MTOR IGF1
14 Decreased viability with paclitaxel GR00179-A-3 10.19 MTOR RPS6KB1
15 Decreased substrate adherent cell growth GR00193-A-1 10.18 RPS6KB1
16 Decreased substrate adherent cell growth GR00193-A-2 10.18 DAPK1 MAPK14 MAPKAPK2 MTOR
17 Decreased substrate adherent cell growth GR00193-A-3 10.18 DAPK1 MAPKAPK2 MAP2K2 RPS6KB1
18 Decreased cell migration GR00055-A-1 9.88 DAPK1 MAP2K2 MAPK14 MAPKAPK2 MTOR TSC1
19 Reduced mammosphere formation GR00396-S 9.5 CALM1 EIF4EBP1 IGF1 MTOR RHEB RPTOR
20 Increased cell viability after pRB stimulation GR00230-A-1 9.46 DAPK1 MAP2K2 MAPK14 MAPKAPK2
21 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 cellular MP:0005384 10.42 DAPK1 EIF4EBP1 IFNG IGF1 IRS1 MAP2K2
2 homeostasis/metabolism MP:0005376 10.41 DAPK1 EIF4EBP1 IFNG IGF1 IRS1 MAP2K2
3 cardiovascular system MP:0005385 10.4 EIF4EBP1 IFNG IGF1 IRS1 MAP2K2 MAPK14
4 growth/size/body region MP:0005378 10.32 EIF4EBP1 IFNG IGF1 IRS1 KCNA2 MAP2K2
5 behavior/neurological MP:0005386 10.31 DAPK1 IFNG KCNA2 MAP2K2 MAPK14 MTOR
6 mortality/aging MP:0010768 10.31 EIF4EBP1 IFNG IGF1 IRS1 KCNA2 MAP2K2
7 hematopoietic system MP:0005397 10.27 IFNG IGF1 IRS1 MAPK14 MAPKAPK2 MTOR
8 embryo MP:0005380 10.24 IFNG MAPK14 MAPKAPK2 MTOR RHEB RPS6KB1
9 endocrine/exocrine gland MP:0005379 10.22 IFNG IGF1 IRS1 MAP2K2 MAPK14 MTOR
10 immune system MP:0005387 10.2 IFNG IGF1 IRS1 MAPK14 MAPKAPK2 MTOR
11 muscle MP:0005369 10.15 EIF4EBP1 IFNG IGF1 IRS1 MAPK14 MAPKAPK2
12 adipose tissue MP:0005375 10.12 EIF4EBP1 IGF1 IRS1 MAP2K2 MTOR RPS6KB1
13 liver/biliary system MP:0005370 10.03 IFNG IRS1 MAPK14 NR1H2 RPTOR SERPINC1
14 nervous system MP:0003631 10.03 DAPK1 IFNG IGF1 KCNA2 MAPK14 MAPKAPK2
15 neoplasm MP:0002006 9.97 IFNG IGF1 MAP2K2 MAPK14 MAPKAPK2 NR1H2
16 normal MP:0002873 9.81 IFNG IGF1 MAP2K2 MAPK14 MAPKAPK2 MTOR
17 reproductive system MP:0005389 9.61 IFNG IGF1 MAPK14 NR1H2 RPS6KB1 RPTOR
18 skeleton MP:0005390 9.32 IFNG IGF1 IRS1 MAP2K2 MAPK14 MAPKAPK2
Sources

Drugs & Therapeutics for Tuberous Sclerosis 2

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

(show top 50) (show all 125)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
2 Antimalarials Phase 4
3 Antiprotozoal Agents Phase 4
4 Antiparasitic Agents Phase 4
5
Topiramate Approved Phase 3 97240-79-4 5284627
6
Phenobarbital Approved, Investigational Phase 3 50-06-6 4763
7
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
8
Clobazam Approved, Illicit Phase 3 22316-47-8 2789
9
Clonazepam Approved, Illicit Phase 3 1622-61-3 2802
10
Carbamazepine Approved, Investigational Phase 3 298-46-4 2554
11
Phenytoin Approved, Vet_approved Phase 3 57-41-0 1775
12
Dronabinol Approved, Illicit Phase 3 1972-08-3 16078
13
Ethanol Approved Phase 3 64-17-5 702
14 Strawberry Approved Phase 3
15
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030 46835353
16
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177 70789204
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 1994-09-7, 94-09-7 2337
20
Carvedilol Approved, Investigational Phase 2, Phase 3 72956-09-3 2585
21
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 134070 5280453
22
Melatonin Approved, Nutraceutical, Vet_approved Phase 3 73-31-4 896
23
Calcium Approved, Nutraceutical Phase 2, Phase 3 7440-70-2 271
24 Trace Elements Phase 3
25 Micronutrients Phase 3
26 Vasoconstrictor Agents Phase 3
27 Nutrients Phase 3
28 Vitamins Phase 3
29 Central Nervous System Depressants Phase 3
30 Sunflower Phase 3
31 Epidiolex Phase 3
32 Pharmaceutical Solutions Phase 3
33 Immunologic Factors Phase 2, Phase 3
34 Anti-Infective Agents Phase 2, Phase 3
35 Antibiotics, Antitubercular Phase 2, Phase 3
36 Anti-Bacterial Agents Phase 2, Phase 3
37 Antifungal Agents Phase 2, Phase 3
38 Immunosuppressive Agents Phase 2, Phase 3
39 Calcium, Dietary Phase 2, Phase 3
40 Antiviral Agents Phase 2, Phase 3
41 Antihypertensive Agents Phase 2, Phase 3
42 Adrenergic Antagonists Phase 2, Phase 3
43 Adrenergic beta-Antagonists Phase 2, Phase 3
44 Vasodilator Agents Phase 2, Phase 3
45 Adrenergic Agents Phase 2, Phase 3
46 Antioxidants Phase 2, Phase 3
47 interferons Phase 2, Phase 3
48 Adrenergic alpha-Antagonists Phase 2, Phase 3
49 Adjuvants, Immunologic Phase 2, Phase 3
50 polysaccharide-K Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 107)
# 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 A Phase II Multi-Center Study of Rapamycin for Treating Kidney Angiomyolipomas in TSC or LAM Patients Unknown status NCT00126672 Phase 2 sirolimus
28 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
29 Everolimus (RAD001) Therapy for Epilepsy in Patients With Tuberous Sclerosis Complex Completed NCT01070316 Phase 1, Phase 2 Everolimus
30 Rapamycin Therapy of Angiomyolipomas in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457808 Phase 2 Rapamycin, sirolimus
31 Phase II Study of Everolimus in Patients With Advanced Solid Malignancies With TSC1, TSC2, NF1, NF2, or STK11 Mutations Completed NCT02352844 Phase 2 Everolimus
32 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)
33 RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457964 Phase 1, Phase 2 RAD001
34 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
35 Everolimus (RAD001)Therapy of Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex Completed NCT00411619 Phase 1, Phase 2 Everolimus
36 A TRIAL OF LETROZOLE IN PULMONARY LYMPHANGIOLEIOMYOMATOSIS Completed NCT01353209 Phase 2 Letrozole;Placebo
37 Rapalogues for Autism Phenotype in TSC: A Feasibility Study Completed NCT01929642 Phase 2 Sirolimus;Everolimus
38 Phase II Study of Topical Rapamycin to Erase Angiofibromas in TSC-Multicenter Evaluation of a Novel Therapy Completed NCT01526356 Phase 2 Placebo;Rapamycin;Rapamycin
39 Randomized Double-Blind Phase 2 Trial Of RAD001 For Neurocognition In Individuals With Tuberous Sclerosis Complex Completed NCT01289912 Phase 2 RAD001;Placebo
40 An Angiogenic Study in Patients With Well/Moderately Differentiated Metastatic Pancreatic Neuroendocrine Tumors Treated With Everolimus Completed NCT02305810 Phase 2 Everolimus 10 mg daily
41 Phase II Study of Everolimus (RAD001, Afinitor®) for Children With Recurrent or Progressive Ependymoma Completed NCT02155920 Phase 2 Everolimus
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 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
49 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 Recruiting NCT02849457 Phase 2 Vigabatrin;Placebo
50 Safety and Efficacy of Saracatinib In Subjects With Lymphangioleiomyomatosis Recruiting NCT02737202 Phase 2 saracatinib

Search NIH Clinical Center for Tuberous Sclerosis 2

Sources

Genetic Tests for Tuberous Sclerosis 2

About this section

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
Sources

Anatomical Context for Tuberous Sclerosis 2

About this section

MalaCards organs/tissues related to Tuberous Sclerosis 2:

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

Publications for Tuberous Sclerosis 2

About this section

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. 56 6
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. 56 6
12192641 2002
4
A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex. 56 6
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. 56 6
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
Sources

Variations for Tuberous Sclerosis 2

About this section

ClinVar genetic disease variations for Tuberous Sclerosis 2:

6 (show top 50) (show all 1490) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TSC2 NM_000548.5(TSC2):c.3180G>A (p.Trp1060Ter)SNV Pathogenic 207780 rs796053509 16:2129325-2129325 16:2079324-2079324
2 TSC2 NP_000539.2(TSC2):p.Gln1579Proprotein only Pathogenic 208846
3 TSC2 NM_000548.5(TSC2):c.45dup (p.Lys16Ter)duplication Pathogenic 217252 rs397515020 16:2098658-2098659 16:2048657-2048658
4 TSC2 NM_000548.5(TSC2):c.4642del (p.Leu1548fs)deletion Pathogenic 12392 rs137854083 16:2135302-2135302 16:2085301-2085301
5 TSC2 NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu)SNV Pathogenic 12393 rs45483392 16:2137898-2137898 16:2087897-2087897
6 TSC2 NM_000548.5(TSC2):c.34A>T (p.Lys12Ter)SNV Pathogenic 12394 rs45512692 16:2098650-2098650 16:2048649-2048649
7 TSC2 NM_000548.5(TSC2):c.2056_2059dup (p.Ser687fs)duplication Pathogenic 12395 rs137854337 16:2121893-2121894 16:2071892-2071893
8 TSC2 NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)SNV Pathogenic 12396 rs45517179 16:2114342-2114342 16:2064341-2064341
9 TSC2 NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)SNV Pathogenic 12397 rs28934872 16:2120572-2120572 16:2070571-2070571
10 TSC2 NM_000548.5(TSC2):c.2150T>G (p.Leu717Arg)SNV Pathogenic 12398 rs45517214 16:2122294-2122294 16:2072293-2072293
11 TSC2 NM_000548.5(TSC2):c.1432C>T (p.Gln478Ter)SNV Pathogenic 12399 rs121964862 16:2113043-2113043 16:2063042-2063042
12 TSC2 NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)deletion Pathogenic 12402 rs137854218 16:2138294-2138311 16:2088293-2088310
13 TSC2 NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln)SNV Pathogenic 12403 rs45517259 16:2126143-2126143 16:2076142-2076142
14 TSC2 NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp)SNV Pathogenic 12404 rs45517258 16:2126142-2126142 16:2076141-2076141
15 TSC2 NM_000548.5(TSC2):c.2713C>G (p.Arg905Gly)SNV Pathogenic 12405 rs45517258 16:2126142-2126142 16:2076141-2076141
16 TSC2 NM_000548.5(TSC2):c.2355+2_2355+5deldeletion Pathogenic 12406 rs137854250 16:2122983-2122986 16:2072982-2072985
17 TSC2 NM_000548.5(TSC2):c.1322G>A (p.Trp441Ter)SNV Pathogenic 12407 rs45515894 16:2112562-2112562 16:2062561-2062561
18 TSC2 NM_000548.5(TSC2):c.1111C>T (p.Gln371Ter)SNV Pathogenic 49142 rs45469099 16:2110806-2110806 16:2060805-2060805
19 TSC2 NM_000548.5(TSC2):c.133_136del (p.Leu45fs)deletion Pathogenic 49151 rs137854360 16:2098748-2098751 16:2048747-2048750
20 TSC2 NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter)SNV Pathogenic 49153 rs45517169 16:2112983-2112983 16:2062982-2062982
21 TSC2 NM_000548.5(TSC2):c.226-2A>GSNV Pathogenic 49200 rs45517096 16:2103341-2103341 16:2053340-2053340
22 TSC2 NM_000548.5(TSC2):c.2356-2A>CSNV Pathogenic 49205 rs45517229 16:2124199-2124199 16:2074198-2074198
23 TSC2 NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter)SNV Pathogenic 49240 rs45465195 16:2129160-2129160 16:2079159-2079159
24 TSC2 NM_000548.5(TSC2):c.3204_3205TG[1] (p.Val1069fs)short repeat Pathogenic 49246 rs137854076 16:2129349-2129350 16:2079348-2079349
25 TSC2 NM_000548.5(TSC2):c.3310_3311del (p.Gln1104fs)deletion Pathogenic 49250 rs137854018 16:2129582-2129583 16:2079581-2079582
26 TSC2 NM_000548.5(TSC2):c.3343C>T (p.Gln1115Ter)SNV Pathogenic 49252 rs137854253 16:2129616-2129616 16:2079615-2079615
27 TSC2 NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter)SNV Pathogenic 49257 rs45451497 16:2130180-2130180 16:2080179-2080179
28 TSC2 NM_000548.5(TSC2):c.4113_4114TG[1] (p.Val1372fs)short repeat Pathogenic 49284 rs137854368 16:2134336-2134337 16:2084335-2084336
29 TSC2 NM_000548.5(TSC2):c.4442dup (p.Ser1482fs)duplication Pathogenic 49298 rs137854312 16:2134662-2134663 16:2084661-2084662
30 TSC2 NM_000548.5(TSC2):c.4507C>T (p.Gln1503Ter)SNV Pathogenic 49301 rs45517348 16:2134965-2134965 16:2084964-2084964
31 TSC2 NM_000548.5(TSC2):c.3532C>T (p.Gln1178Ter)SNV Pathogenic 49263 rs45517297 16:2130300-2130300 16:2080299-2080299
32 TSC2 NM_000548.5(TSC2):c.3662C>A (p.Ser1221Ter)SNV Pathogenic 49269 rs45517305 16:2131647-2131647 16:2081646-2081646
33 TSC2 NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs)deletion Pathogenic 49304 rs137854175 16:2134999-2135002 16:2084998-2085001
34 TSC2 NM_000548.5(TSC2):c.4655_4657del (p.Glu1552del)deletion Pathogenic 49310 rs137854146 16:2135314-2135316 16:2085313-2085315
35 TSC2 NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser)SNV Pathogenic 49335 rs45517382 16:2136835-2136835 16:2086834-2086834
36 TSC2 NM_000548.5(TSC2):c.5068G>T (p.Asp1690Tyr)SNV Pathogenic 49344 rs137854882 16:2137942-2137942 16:2087941-2087941
37 TSC2 NM_000548.5(TSC2):c.5140C>T (p.Gln1714Ter)SNV Pathogenic 49351 rs45517396 16:2138120-2138120 16:2088119-2088119
38 TSC2 NM_000548.5(TSC2):c.5161del (p.Met1721fs)deletion Pathogenic 49360 rs137854251 16:2138228-2138228 16:2088227-2088227
39 TSC2 NM_000548.5(TSC2):c.5220G>A (p.Trp1740Ter)SNV Pathogenic 49363 rs45517411 16:2138287-2138287 16:2088286-2088286
40 TSC2 NM_000548.5(TSC2):c.5252_5259+19deldeletion Pathogenic 49366 rs137854397 16:2138313-2138339 16:2088312-2088338
41 TSC2 NM_000548.5(TSC2):c.4839_4841CAT[1] (p.Ile1614del)short repeat Pathogenic 49325 rs137854331 16:2136370-2136372 16:2086369-2086371
42 TSC2 NM_000548.5(TSC2):c.4846C>T (p.Gln1616Ter)SNV Pathogenic 49326 rs45455296 16:2136377-2136377 16:2086376-2086376
43 TSC2 NM_000548.5(TSC2):c.646G>T (p.Glu216Ter)SNV Pathogenic 49380 rs45517118 16:2106243-2106243 16:2056242-2056242
44 TSC2 NM_000548.5(TSC2):c.976-15G>ASNV Pathogenic 49396 rs45517150 16:2110656-2110656 16:2060655-2060655
45 TSC2 NM_000548.5(TSC2):c.976-1G>ASNV Pathogenic 49397 rs45451199 16:2110670-2110670 16:2060669-2060669
46 TSC2 NM_000548.5(TSC2):c.648+1G>ASNV Pathogenic 49410 rs45488893 16:2106246-2106246 16:2056245-2056245
47 TSC2 NM_000548.5(TSC2):c.658C>T (p.Gln220Ter)SNV Pathogenic 49411 rs45517119 16:2106654-2106654 16:2056653-2056653
48 TSC2 NM_000548.5(TSC2):c.5160+1G>ASNV Pathogenic 49425 rs45517399 16:2138141-2138141 16:2088140-2088140
49 TSC2 NM_000548.5(TSC2):c.826_827del (p.Met276fs)deletion Pathogenic 49447 rs137853977 16:2107157-2107158 16:2057156-2057157
50 TSC2 NM_000548.5(TSC2):c.832dup (p.His278fs)duplication Pathogenic 49448 rs137854020 16:2107161-2107162 16:2057160-2057161

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

Sources

Expression for Tuberous Sclerosis 2

About this section
Search GEO for disease gene expression data for Tuberous Sclerosis 2.
Sources

Pathways for Tuberous Sclerosis 2

About this section

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

(show top 50) (show all 103)
# Super pathways Score Top Affiliating Genes
1
Signaling by GPCR 65
Show member pathways
 14.28 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
2
ERK Signaling 63
Show member pathways
 13.92 TSC2 TSC1 RPTOR RHEB MTOR MAPKAPK2
3
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. 65
Show member pathways
 13.66 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
4
TGF-Beta Pathway 63
Show member pathways
 13.65 RPS6KB1 MTOR MAPKAPK2 MAPK14 MAP2K2 IRS1
5
Akt Signaling 63
Show member pathways
 13.52 TSC2 TSC1 RPS6KB1 MTOR MAPKAPK2 MAPK14
6
Nanog in Mammalian ESC Pluripotency 63
Show member pathways
 13.36 TSC2 TSC1 RPS6KB1 MAPK14 MAP2K2 IGF1
7
IL-2 Pathway 63
Show member pathways
 13.32 RPS6KB1 MTOR MAPK14 MAP2K2 IRS1 IGF1
8
Cellular Senescence (REACTOME) 65
Show member pathways
 13.24 TSC2 TSC1 RPTOR RHEB MTOR MAPKAPK2
9
p70S6K Signaling 63
Show member pathways
 13.16 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
10
PI3K-Akt signaling pathway 36
Show member pathways
 13.14 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
11
TNFR1 Pathway 63
Show member pathways
 13.11 TSC2 RPS6KB1 RHEB MTOR MAPK14 MAP2K2
12
Human cytomegalovirus infection 36
Show member pathways
 13.08 TSC2 TSC1 RPS6KB1 RHEB MTOR MAPKAPK2
13
Regulation of TP53 Activity 65
Show member pathways
 13.06 TSC2 TSC1 RPTOR RHEB MTOR MAPK14
14
NFAT and Cardiac Hypertrophy 63
Show member pathways
 13.01 RPS6KB1 MTOR MAPKAPK2 MAPK14 MAP2K2 IRS1
15
Endometrial cancer 36
Show member pathways
 13.01 TSC2 RPS6KB1 RHEB MTOR MAP2K2 IRS1
16
Pathways in cancer 36
12.97 RPS6KB1 MTOR MAP2K2 IGF1 IFNG DAPK1
17
Beta-Adrenergic Signaling 63
Show member pathways
 12.92 RPS6KB1 MTOR MAPK14 MAP2K2 IRS1 EIF4EBP1
18
Regulation of lipid metabolism Insulin signaling-generic cascades 22
Show member pathways
 12.92 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
19
Herpes simplex virus 1 infection 36
12.91 TSC2 TSC1 RHEB MTOR IFNG EIF4EBP1
20
Development HGF signaling pathway 22
Show member pathways
 12.88 RPTOR RAB5A MTOR MAPKAPK2 MAPK14 MAP2K2
21
Ras signaling pathway 36
Show member pathways
 12.82 RAB5A MAPK14 MAP2K2 IGF1 CALM1
22
Glioma 36
Show member pathways
 12.82 TSC2 TSC1 RPS6KB1 MTOR MAPK14 MAP2K2
23
Development Endothelin-1/EDNRA signaling 22
Show member pathways
 12.81 TSC2 RPS6KB1 RHEB MTOR MAPK14 MAP2K2
24
Relaxin signaling pathway 36
Show member pathways
 12.79 MTOR MAPK14 MAP2K2 IRS1 IGF1 CALM1
25
T cell receptor signaling pathway 36
Show member pathways
 12.73 RPS6KB1 MTOR MAPK14 MAP2K2 IFNG CALM1
26
ErbB signaling pathway 1 36
Show member pathways
 12.72 RPS6KB1 MTOR MAP2K2 IGF1 EIF4EBP1
27
Immune response Fc epsilon RI pathway 22
Show member pathways
 12.69 RPS6KB1 MAPKAPK2 MAPK14 MAP2K2 CALM1
28
Development Dopamine D2 receptor transactivation of EGFR 22
Show member pathways
 12.67 RPS6KB1 MAP2K2 IRS1 IGF1 CALM1
29
Prolactin Signaling Pathway 1 36
Show member pathways
 12.62 RPS6KB1 MTOR MAPK14 MAP2K2 IRS1 EIF4EBP1
30
Angiopoietin Like Protein 8 Regulatory Pathway 1
Show member pathways
 12.61 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
31
Phospholipase D signaling pathway 36
Show member pathways
 12.58 TSC2 TSC1 RPS6KB1 RHEB MTOR MAP2K2
32
mTOR signalling 65
Show member pathways
 12.58 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
33
mTOR signaling pathway (KEGG) 64
Show member pathways
 12.57 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
34
AMP-activated Protein Kinase (AMPK) Signaling 1
Show member pathways
 12.56 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
35
MET promotes cell motility 65
Show member pathways
 12.54 MTOR MAPK14 IRS1 EIF4EBP1
36
G-protein signaling RAC1 in cellular process 22
Show member pathways
 12.47 RPS6KB1 MTOR MAPK14 MAP2K2 IGF1
37
CNTF Signaling 63
Show member pathways
 12.46 RPS6KB1 MTOR MAPK14 MAP2K2 EIF4EBP1
38
Shigellosis 36
12.45 RPTOR RPS6KB1 MTOR MAPK14
39
B Cell Receptor Signaling Pathway (sino) 66
Show member pathways
 12.45 RPS6KB1 MTOR MAPK14 MAP2K2 CALM1
40
Development Ligand-independent activation of ESR1 and ESR2 22
Show member pathways
 12.44 MAPK14 MAP2K2 IRS1 IGF1 CALM1
41
Toll Comparative Pathway 63
Show member pathways
 12.43 MAPKAPK2 MAPK14 MAP2K2 IFNG CALM1
42
Proteoglycans in cancer 36
12.43 RPS6KB1 MTOR MAPK14 MAP2K2 IGF1
43
Translational Control 4
12.43 TSC2 TSC1 RPTOR RPS6KB1 MTOR EIF4EBP1
44
Type I Interferon Signaling Pathways 64
Show member pathways
 12.41 TSC2 TSC1 RPS6KB1 MTOR MAPKAPK2 MAPK14
45
MAPK Signaling: Mitogen Stimulation Pathway 64
Show member pathways
 12.4 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
46
AMPK Enzyme Complex Pathway 63
Show member pathways
 12.36 TSC2 TSC1 RPTOR RPS6KB1 MTOR MAPK14
47
EGF/EGFR Signaling Pathway 1
12.35 RPS6KB1 RAB5A MTOR MAPK14 MAP2K2 EIF4EBP1
48
Tuberculosis 36
12.33 RAB5A MAPK14 IFNG CALM1
49
C-type lectin receptor signaling pathway 36
Show member pathways
 12.31 MAPKAPK2 MAPK14 MAP2K2 CALM1
50
G-protein signaling Ras family GTPases in kinase cascades (scheme) 22
Show member pathways
 12.31 MTOR MAPK14 MAP2K2 IRS1
Sources

GO Terms for Tuberous Sclerosis 2

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.07 TSC2 TSC1 RPTOR RPS6KB1 RHEB RAB5A
2 cytoplasm GO:0005737 9.53 TSC2 TSC1 RPTOR RPS6KB1 RHEB RABEP1
3 TORC1 complex GO:0031931 9.16 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 31)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 10 RPS6KB1 MTOR MAPKAPK2 MAPK14 MAP2K2 DAPK1
2 phosphorylation GO:0016310 9.87 RPS6KB1 MTOR MAPKAPK2 MAPK14 MAP2K2 DAPK1
3 peptidyl-serine phosphorylation GO:0018105 9.81 RPS6KB1 MTOR MAPKAPK2 MAPK14
4 response to nutrient GO:0007584 9.8 SERPINC1 RPS6KB1 MTOR
5 regulation of translation GO:0006417 9.8 TSC1 RPS6KB1 EIF4EBP1 DAPK1
6 negative regulation of translation GO:0017148 9.79 TSC1 EIF4EBP1 DAPK1
7 regulation of cellular response to heat GO:1900034 9.79 RPTOR MTOR MAPKAPK2
8 MAPK cascade GO:0000165 9.77 MAPKAPK2 MAPK14 MAP2K2 IRS1 CALM1
9 response to insulin GO:0032868 9.76 TSC1 MTOR IRS1
10 regulation of macroautophagy GO:0016241 9.75 RPTOR RHEB MTOR
11 positive regulation of smooth muscle cell proliferation GO:0048661 9.74 RPS6KB1 MTOR IGF1
12 cell cycle arrest GO:0007050 9.73 RPTOR RHEB MTOR IFNG
13 phosphatidylinositol-mediated signaling GO:0048015 9.72 RPS6KB1 IRS1 IGF1
14 activation of MAPK activity GO:0000187 9.71 MAPKAPK2 MAPK14 MAP2K2 IGF1
15 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.65 MTOR CALM1
16 positive regulation of myotube differentiation GO:0010831 9.65 MTOR MAPK14
17 protein kinase B signaling GO:0043491 9.65 TSC2 RPS6KB1 IGF1
18 positive regulation of cell growth involved in cardiac muscle cell development GO:0061051 9.64 MTOR IGF1
19 cellular response to nutrient levels GO:0031669 9.64 RPTOR MTOR
20 negative regulation of macroautophagy GO:0016242 9.63 TSC1 MTOR
21 anoikis GO:0043276 9.63 TSC2 MTOR
22 positive regulation of glucose import GO:0046326 9.63 MAPK14 IRS1 IGF1
23 cellular response to leucine GO:0071233 9.61 RPTOR MTOR
24 positive regulation of transcription by RNA polymerase III GO:0045945 9.6 RPTOR MTOR
25 negative regulation of cell size GO:0045792 9.59 TSC1 MTOR
26 p38MAPK cascade GO:0038066 9.56 MAPKAPK2 MAPK14
27 TORC1 signaling GO:0038202 9.54 RPTOR MTOR
28 positive regulation of protein serine/threonine kinase activity GO:0071902 9.46 RPTOR MAP2K2 IFNG CALM1
29 insulin-like growth factor receptor signaling pathway GO:0048009 9.43 TSC2 IRS1 IGF1
30 negative regulation of insulin receptor signaling pathway GO:0046627 9.26 TSC2 TSC1 RPS6KB1 IRS1
31 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 kinase activity GO:0004672 9.91 RPS6KB1 MTOR MAPKAPK2 MAPK14 MAP2K2 DAPK1
2 kinase activity GO:0016301 9.8 RPS6KB1 MTOR MAPKAPK2 MAPK14 MAP2K2 DAPK1
3 protein serine/threonine kinase activity GO:0004674 9.63 RPS6KB1 MTOR MAPKAPK2 MAPK14 MAP2K2 DAPK1
4 protein binding GO:0005515 9.62 TSC2 TSC1 SERPINC1 RPTOR RPS6KB1 RHEB
5 RNA polymerase III type 3 promoter DNA binding GO:0001032 9.46 RPTOR MTOR
6 nucleotide binding GO:0000166 9.43 RPS6KB1 RHEB MTOR MAPKAPK2 MAPK14 MAP2K2
7 TFIIIC-class transcription factor complex binding GO:0001156 9.4 RPTOR MTOR
8 RNA polymerase III type 2 promoter DNA binding GO:0001031 9.37 RPTOR MTOR
9 RNA polymerase III type 1 promoter DNA binding GO:0001030 9.32 RPTOR MTOR
Sources

Sources for Tuberous Sclerosis 2

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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