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TSC2
MCID: TBR026
MIFTS: 63

Tuberous Sclerosis 2 (TSC2)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases
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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 57 11 73 28 5 43 71
Tsc2 Angiomyolipomas, Renal, Modifier of 57 28 12 5
Tsc2 57 73 75
Tuberous Sclerosis 73 71
Tuberous Sclerosis Complex 73
Tuberous Sclerosis, Type 2 75
Tuberous Sclerosis-2 57
Ts 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:

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


Sources

Summaries for Tuberous Sclerosis 2

About this section

OMIM®: 57 Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. These changes can result in epilepsy, learning difficulties, behavioral problems, and renal failure, among other complications (reviews by Crino et al., 2006 and Curatolo et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of tuberous sclerosis, see tuberous sclerosis-1 (191100), caused by mutation in the TSC1 gene (605284) on chromosome 9q34. Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section). (613254) (Updated 08-Dec-2022)

MalaCards based summary: Tuberous Sclerosis 2, also known as tsc2 angiomyolipomas, renal, modifier of, is related to lymphoid interstitial pneumonia and tuberous sclerosis 1, and has symptoms including tremor, back pain and headache. An important gene associated with Tuberous Sclerosis 2 is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways are Vesicle-mediated transport and wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF). The drugs Doxycycline and Cannabidiol have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and heart, and related phenotypes are intellectual disability and hearing impairment

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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.

Wikipedia 75 Tsc2: Tuberous Sclerosis Complex 2 (TSC2), also known as Tuberin, is a protein that in humans is encoded by... more...

Tuberous sclerosis, type 2: 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

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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 970)
# Related Disease Score Top Affiliating Genes
1 lymphoid interstitial pneumonia 31.1 TSC2 IFNG
2 tuberous sclerosis 1 30.8 TSC2 IFNG
3 lung disease 30.3 TSC2 IFNG
4 nervous system disease 30.1 TSC2 RAB5A IFNG
5 alzheimer disease, familial, 1 28.9 TSC2 RABEP1 RAB5A
6 wolff-parkinson-white syndrome 11.3
7 renal oncocytoma 11.2
8 breast cancer 11.1
9 angiomyolipoma 11.1
10 soft tissue sarcoma 11.1
11 brain and spinal tumors 11.1
12 epilepsy 11.1
13 kidney angiomyolipoma 11.0
14 glioma susceptibility 1 11.0
15 autism spectrum disorder 11.0
16 west syndrome 11.0
17 polycystic kidney disease 4 with or without polycystic liver disease 10.9
18 cowden syndrome 1 10.9
19 neurodegeneration with brain iron accumulation 10.9
20 autism 10.8
21 hereditary renal cell carcinoma 10.8
22 vascular cancer 10.8
23 cystic kidney disease 10.8
24 corneal dystrophy, fleck 10.8
25 proteus syndrome 10.8
26 polymicrogyria, bilateral perisylvian, x-linked 10.8
27 pitt-hopkins-like syndrome 1 10.8
28 cowden syndrome 4 10.8
29 developmental and epileptic encephalopathy 87 10.8
30 periventricular nodular heterotopia 10.8
31 respiratory system benign neoplasm 10.8
32 reproductive organ benign neoplasm 10.8
33 polycystic liver disease 10.8
34 specific developmental disorder 10.8
35 cell type benign neoplasm 10.8
36 central nervous system benign neoplasm 10.8
37 uterine benign neoplasm 10.8
38 fallopian tube benign neoplasm 10.8
39 connective tissue benign neoplasm 10.8
40 stromal dystrophy 10.8
41 rasopathy 10.8
42 low grade glioma 10.8
43 developmental and epileptic encephalopathy 10.8
44 liver lipoma 10.8
45 gangliocytoma 10.8
46 congenital nervous system abnormality 10.8
47 kidney benign neoplasm 10.8
48 spinal cord disease 10.8
49 perivascular tumor 10.8
50 benign epilepsy with centrotemporal spikes 10.8

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

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Human phenotypes related to Tuberous Sclerosis 2:

30 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 30 Very rare (1%) HP:0001249
2 hearing impairment 30 Very rare (1%) HP:0000365
3 autism 30 Very rare (1%) HP:0000717
4 adenoma sebaceum 30 Very rare (1%) HP:0009720
5 infantile spasms 30 Very rare (1%) HP:0012469
6 renal cyst 30 Very rare (1%) HP:0000107
7 retinal hamartoma 30 Very rare (1%) HP:0009594
8 shagreen patch 30 Very rare (1%) HP:0009721
9 renal angiomyolipoma 30 Very rare (1%) HP:0006772
10 pulmonary lymphangiomyomatosis 30 Very rare (1%) HP:0012798
11 hypomelanotic macule 30 Very rare (1%) HP:0009719
12 cardiac rhabdomyoma 30 Very rare (1%) HP:0009729
13 subependymal nodules 30 Very rare (1%) HP:0009716
14 cortical tubers 30 Very rare (1%) HP:0009717
15 subependymal giant-cell astrocytoma 30 Very rare (1%) HP:0009718
16 absence of renal corticomedullary differentiation 30 Very rare (1%) HP:0005564
17 subungual fibromas 30 Very rare (1%) HP:0009724
18 cerebral calcification 30 HP:0002514
19 hypothyroidism 30 HP:0000821
20 precocious puberty 30 HP:0000826
21 attention deficit hyperactivity disorder 30 HP:0007018
22 specific learning disability 30 HP:0001328
23 subcutaneous nodule 30 HP:0001482
24 astrocytoma 30 HP:0009592
25 renal cell carcinoma 30 HP:0005584
26 cafe-au-lait spot 30 HP:0000957
27 gingival fibromatosis 30 HP:0000169
28 wolff-parkinson-white syndrome 30 HP:0001716
29 epileptic spasm 30 HP:0011097
30 ependymoma 30 HP:0002888
31 hemimegalencephaly 30 HP:0007206
32 optic nerve glioma 30 HP:0009734
33 achromatic retinal patches 30 HP:0009727
34 chordoma 30 HP:0010762

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Endocrine Features:
hypothyroidism
precocious puberty

Neurologic Central Nervous System:
infantile spasms
subependymal nodules
cortical tubers
seizures
hamartomatous lesions of the brain
more
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

Neurologic Behavioral Psychiatric Manifestations:
autism
hyperactivity
attention deficit disorder

Skin Nails Hair Skin:
shagreen patch
subcutaneous nodules
cafe-au-lait spots
facial angiofibroma (adenoma sebaceum)
white ash leaf-shaped macules
more
Cardiovascular Heart:
cardiac rhabdomyoma
wolf-parkinson-white syndrome

Genitourinary Kidneys:
renal cysts
tumors of the kidney (may progress to malignancy in less than 2%)

Respiratory Lung:
lymphangiomyomatosis, rare

Laboratory Abnormalities:
increased frequency of premature centromere disjunction (pcd) in cultured fibroblasts, esp. chromosome 3
allelic loss on 16p13.3 in angiomyolipoma, cardiac rhabdomyoma, cortical tuber, and giant cell astrocytoma

Clinical features from OMIM®:

613254 (Updated 08-Dec-2022)

UMLS symptoms related to Tuberous Sclerosis 2:


tremor; back pain; headache; syncope; pain; chronic pain; sciatica; seizures; vertigo/dizziness; sleeplessness
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 71)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
2
Cannabidiol Approved, Investigational Phase 4 13956-29-1 521372 644019
3
Vigabatrin Approved Phase 4 60643-86-9, 68506-86-5 5665
4 Antiprotozoal Agents Phase 4
5 Antiparasitic Agents Phase 4
6 Antimalarials Phase 4
7 Pharmaceutical Solutions Phase 4
8 Liver Extracts Phase 4
9 Neurotransmitter Agents Phase 4
10 Anticonvulsants Phase 4
11
Ethanol Approved Phase 3 64-17-5 702
12 Strawberry Approved Phase 3
13
Carbamazepine Approved, Investigational Phase 3 298-46-4 2554
14
Phenytoin Approved, Vet_approved Phase 3 57-41-0 1775
15
Phenobarbital Approved, Investigational Phase 3 50-06-6 4763
16
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
17
Clonazepam Approved, Illicit Phase 3 1622-61-3 2802
18
Clobazam Approved, Illicit Phase 3 22316-47-8 2789
19
Topiramate Approved Phase 3 97240-79-4 5284627
20
Ganaxolone Approved, Investigational Phase 3 38398-32-2 22023730 6918305
21
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030
22
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
23
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
24
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 5280453
25 Vitamins Phase 3
26 Hormones Phase 3
27 Trace Elements Phase 3
28 Vasoconstrictor Agents Phase 3
29 Calcium, Dietary Phase 3
30 Micronutrients Phase 3
31 Neurosteroids Phase 3
32 GABA Modulators Phase 3
33 Antifungal Agents Phase 3
34 Antibiotics, Antitubercular Phase 3
35
Calcium Nutraceutical Phase 3 7440-70-2 271
36
Acetylsalicylic acid Approved, Vet_approved Phase 2 50-78-2 2244
37
Propranolol Approved, Investigational Phase 2 318-98-9, 525-66-6 62882 4946
38
Simvastatin Approved Phase 1, Phase 2 79902-63-9 54454
39
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
40
Tannic acid Approved Phase 2 1401-55-4 16129878 16129778
41
Coal tar Approved Phase 1, Phase 2 8007-45-2
42 Analgesics Phase 2
43 Antirheumatic Agents Phase 2
44 Fibrinolytic Agents Phase 2
45 Antipyretics Phase 2
46 Cyclooxygenase Inhibitors Phase 2
47 Platelet Aggregation Inhibitors Phase 2
48 Anti-Inflammatory Agents, Non-Steroidal Phase 2
49 Analgesics, Non-Narcotic Phase 2
50 Anti-Inflammatory Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 84)
# Name Status NCT ID Phase Drugs
1 Phase IV, Single Arm Study of Safety and Efficacy of Everolimus in Chinese Adults With Tuberous Sclerosis Complex Who Have Renal Angiomyolipoma Not Requiring Immediate Surgery Completed NCT03525834 Phase 4 Everolimus
2 CLINICAL TRIAL TO DETERMINE THE EFFICACY AND SAFETY OF RAPAMYCIN IN ANGIOMYOLIPOMAS IN PATIENTS WITH TUBEROUS SCLEROSIS Completed NCT01217125 Phase 4 Sirolimus
3 A Randomised, Double Blind, Placebo Controlled Trial of Doxycycline in Lymphangioleiomyomatosis. Completed NCT00989742 Phase 4 Doxycycline;Placebo
4 A Long-term Safety Study to Assess the Potential for Chronic Liver Injury in Participants Treated With Epidiolex (Cannabidiol) Oral Solution Recruiting NCT05044819 Phase 4 Cannabidiol
5 Phase IV, Prospective Single Arm Study of Safety and Efficacy of Votubia (Everolimus) in Taiwanese Adults With Tuberous Sclerosis Complex Who Have Renal Angiomyolipoma Not yet recruiting NCT05252585 Phase 4 Everolimus
6 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
7 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
8 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
9 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 Completed NCT03826628 Phase 2, Phase 3 rapamycin;placebo
10 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
11 A Long-term, Single-arm, Open-label Trial of NPC-12G (Topical Formulation of Sirolimus) to Angiofibroma and Other Skin Lesions in Patients With Tuberous Sclerosis Complex Completed NCT02634931 Phase 3 NPC-12G gel
12 A Randomized, Double-blind, Placebo-controlled Study of 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
13 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
14 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 NCT02544750 Phase 3 GWP42003-P
15 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
16 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)
17 An Open-label, Randomized Trial to Assess the Safety, Pharmacokinetics, and Exploratory Efficacy of Adjunctive Cannabidiol Oral Solution (GWP42003-P) Compared With Standard of Care Antiseizure Medication, in Patients Age 1 Month to Less Than 12 Months of Age With Tuberous Sclerosis Complex Who Experience Inadequately-controlled Seizures Recruiting NCT04485104 Phase 3 GWP42003-P;SOC
18 A Phase 3, Double-blind, Randomized, Placebo-controlled Trial of Adjunctive Ganaxolone (GNX) Treatment in Children and Adults With Tuberous Sclerosis Complex (TSC)-Related Epilepsy Recruiting NCT05323734 Phase 3 GNX oral suspension, TID;Placebo
19 Randomized, Placebo-controlled, Double-blind and Double-dummy Clinical Trial Comparing the Safety, Tolerability, and Efficacy of Vigabatrin and Rapamycin in a Preventive Treatment of Infants With Tuberous Sclerosis Complex Recruiting NCT04987463 Phase 2, Phase 3 Vigabatrin;Rapamycin;Placebo
20 Placebo-controlled Comparative Study of NPC-12Y Gel in Patients With Skin Lesions Associated With Tuberous Sclerosis Complex Recruiting NCT05495425 Phase 3 NPC-12Y gel;NPC-12Y placebo gel
21 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
22 A Phase 3, Open-label Study of Adjunctive Ganaxolone (GNX) Treatment in Children and Adults With Tuberous Sclerosis Complex (TSC)-Related Epilepsy (TrustTSC OLE) Enrolling by invitation NCT05604170 Phase 3 GNX oral suspension, TID
23 Multicenter, Randomized, Double-blind, Placebo Controlled Study to Assess the Efficacy and Safety of Rapamycin in Drug Resistant Epilepsy Associated With TSC Not yet recruiting NCT05534672 Phase 3
24 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. Withdrawn NCT02860494 Phase 2, Phase 3 Everolimus;Placebo
25 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
26 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)
27 A Placebo-controlled Study of Efficacy & Safety of Aspirin as an add-on Treatment in Patients With Tuberous Sclerosis Complex (TSC) & Refractory Seizures Unknown status NCT03356769 Phase 2 Aspirin;AED;Placebo
28 Rapamycin Therapy of Angiomyolipomas in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457808 Phase 2 Rapamycin, sirolimus
29 RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457964 Phase 1, Phase 2 RAD001
30 Everolimus (RAD001)Therapy of Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex Completed NCT00411619 Phase 1, Phase 2 Everolimus
31 Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers: Pilot Trial Completed NCT02104011 Phase 2 Propranolol
32 The Safety of Simvastatin (SOS) in Patients With Pulmonary Lymphangioleiomyomatosis (LAM) and With Tuberous Sclerosis Complex (TSC) Completed NCT02061397 Phase 1, Phase 2 Simvastatin;Sirolimus Oral Product;Everolimus Oral Product
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 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) Completed NCT04285346 Phase 2 Ganaxolone
35 Everolimus (RAD001) Therapy for Epilepsy in Patients With Tuberous Sclerosis Complex Completed NCT01070316 Phase 1, Phase 2 Everolimus
36 Randomized Double-Blind Phase 2 Trial Of RAD001 For Neurocognition In Individuals With Tuberous Sclerosis Complex Completed NCT01289912 Phase 2 RAD001;Placebo
37 Rapalogues for Autism Phenotype in TSC: A Feasibility Study Completed NCT01929642 Phase 2 Sirolimus;Everolimus
38 A Pilot Study To Evaluate The Effects of Everolimus on Brain mTOR Activity and Cortical Hyperexcitability in TSC and FCD Completed NCT02451696 Phase 2 Everolimus
39 A Phase II Multi-Center Study of Rapamycin for Treating Kidney Angiomyolipomas in TSC or LAM Patients Completed NCT00126672 Phase 2 Rapamycin
40 Phase II Study of Topical Rapamycin to Erase Angiofibromas in TSC-Multicenter Evaluation of a Novel Therapy Completed NCT01526356 Phase 2 Placebo;Rapamycin
41 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
42 Phase II Study of Everolimus in Patients With Advanced Solid Malignancies With TSC1, TSC2, NF1, NF2, or STK11 Mutations Completed NCT02352844 Phase 2 Everolimus
43 A Phase 2B, Multicenter, 30-week, Prospective, Cross-over, Double-blind, Randomized, Placebo-controlled Study Followed by a 52-Week Open-label Extension Study to Evaluate the Efficacy and Safety of Basimglurant Adjunctive to Ongoing Anticonvulsive Therapy in Children, Adolescents, and Young Adults With Uncontrolled Seizures Associated With Tuberous Sclerosis Complex Recruiting NCT05059327 Phase 2 Basimglurant with crossover to Placebo;Placebo with crossover to Basimglurant
44 Phase 2 Multi Center Prospective Rand. Double Blind Placebo Cont. Parallel Design Study to Evaluate Safety & Efficacy of Topical Sirolimus for Cutaneous Angiofibromas in Subjects W/ Tuberous Sclerosis Complex Followed by Opt. Open Label Recruiting NCT03363763 Phase 2 Sirolimus 0.2%;Sirolimus 0.4%;Placebo ointment
45 Stopping TSC Onset and Progression 2B: Sirolimus TSC Epilepsy Prevention Study Recruiting NCT05104983 Phase 2 Sirolimus;Placebo
46 Feasibility Study of [11C]Acetate Positron Emission Tomography (PET) as an Indicator of Early Response to Rapamycin in Lymphangioleiomyomatosis (LAM) Patients Recruiting NCT05467397 Phase 1, Phase 2 [11C]acetate
47 A Phase 2 Multi-center Open-label Basket Trial of Nab-sirolimus for Adult and Adolescent Patients With Malignant Solid Tumors Harboring Pathogenic Inactivating Alterations in TSC1 or TSC2 Genes Recruiting NCT05103358 Phase 2 nab-sirolimus
48 Preventing Epilepsy Using Vigabatrin In Infants With Tuberous Sclerosis Complex (PREVeNT Trial) A Randomized, Double-blind, Placebo-controlled Seizure Prevention Clinical Trial for Infants With TSC Active, not recruiting NCT02849457 Phase 2 Vigabatrin;Placebo
49 Stopping TSC Onset and Progression 2: Epilepsy Prevention in TSC Infants Active, not recruiting NCT04595513 Phase 1, Phase 2 TAVT-18 (sirolimus)
50 An Open Label, Multicenter, Single Arm Phase II Study to Evaluate the Activity and Tolerability of the Novel mTOR Inhibitor, MLN0128 (TAK-228), in Patients With Locally Advanced or Metastatic Transitional Cell Carcinoma of the Urothelial Tract Whose Tumors Harbor a TSC1 and/or a TSC2 Mutation Active, not recruiting NCT03047213 Phase 2 Sapanisertib

Search NIH Clinical Center for Tuberous Sclerosis 2

Cochrane evidence based reviews: 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 28 IFNG TSC2
2 Tsc2 Angiomyolipomas, Renal, Modifier of 28
Sources

Anatomical Context for Tuberous Sclerosis 2

About this section

Organs/tissues related to Tuberous Sclerosis 2:

MalaCards : Skin, Lung, Heart, Brain, Kidney, Liver, Skeletal Muscle
ODiseA: Brain, Heart-Atrium, Heart-Ventricle, Heart, Respiratory System-Lung, Respiratory System, Skin, Kidney
Sources

Publications for Tuberous Sclerosis 2

About this section

Articles related to Tuberous Sclerosis 2:

(show top 50) (show all 9735)
# Title Authors PMID Year
1
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. 62 57 5
17304050 2007
2
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. 62 57 5
17120248 2006
3
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. 62 57 5
15798777 2005
4
Discordant clinical manifestations in monozygotic twins with the identical mutation in the TSC2 gene. 62 57 5
12752578 2003
5
Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients. 62 57 5
12192641 2002
6
SNP identification, haplotype analysis, and parental origin of mutations in TSC2. 62 57 5
12136241 2002
7
A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex. 62 57 5
11403047 2001
8
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. 62 57 5
11112665 2001
9
High rate of mosaicism in tuberous sclerosis complex. 62 57 5
10330349 1999
10
Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex. 62 57 5
8825048 1996
11
Somatic mosaicism and clinical variation in tuberous sclerosis complex. 62 57 5
7823706 1995
12
A de novo frame-shift mutation in the tuberin gene. 57 5
7581393 1995
13
Mutation and cancer: statistical study of retinoblastoma. 57 5
5279523 1971
14
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study. 62 5
32461669 2020
15
Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single family. 62 5
32383331 2020
16
Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex. 62 5
32555378 2020
17
First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants. 62 5
32313033 2020
18
Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients. 62 5
31927531 2020
19
Genotype and Phenotype Analysis of Chinese Children With Tuberous Sclerosis Complex: A Pediatric Cohort Study. 62 5
32211034 2020
20
Decoding of novel missense TSC2 gene variants using in-silico methods. 62 5
31655562 2019
21
Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex. 62 5
31018109 2019
22
Minimal mosaicism, maximal phenotype: Discordance between clinical and molecular findings in two patients with tuberous sclerosis. 62 5
30260069 2018
23
Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings. 62 5
29926239 2018
24
Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the TSC1 and TSC2 genes. 62 5
29932062 2018
25
Pattern of TSC1 and TSC2 germline mutations in Russian patients with tuberous sclerosis. 62 5
29476190 2018
26
Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome. 62 5
29500070 2018
27
Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece. 62 5
29196670 2017
28
The genomic landscape of tuberous sclerosis complex. 62 5
28643795 2017
29
Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex. 62 5
27859028 2017
30
Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex. 62 5
28178598 2017
31
[Two novel TSC2 frameshift mutations in tuberous sclerosis complex]. 62 5
28302202 2017
32
Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex. 62 5
28127866 2017
33
Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis. 62 5
28968464 2017
34
Multifocal micronodular pneumocyte hyperplasia (MMPH) in a patient with tuberous sclerosis-evidence for long term stability. 62 5
28149746 2017
35
Genotype and brain pathology phenotype in children with tuberous sclerosis complex. 62 5
27406250 2016
36
Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development. 62 5
27494029 2016
37
Comparison of Color Fundus Photography, Infrared Fundus Photography, and Optical Coherence Tomography in Detecting Retinal Hamartoma in Patients with Tuberous Sclerosis Complex. 62 5
27174333 2016
38
mTORC1-mediated downregulation of COX2 restrains tumor growth caused by TSC2 deficiency. 62 5
27078846 2016
39
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis. 62 5
26703369 2016
40
Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2. 62 5
25782670 2015
41
Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. 62 5
26540169 2015
42
Quick genetic screening using targeted next-generation sequencing in patients with tuberous sclerosis. 62 5
24789117 2015
43
A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex. 62 5
25432535 2015
44
Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy. 62 5
25498131 2014
45
Careful clinical observation continues to improve understanding of the phenotype in individuals with tuberous sclerosis complex. 62 5
25039834 2014
46
Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex. 62 57
25288394 2014
47
Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex. 62 5
24271014 2014
48
Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference. 62 5
24053982 2013
49
A tuberous sclerosis complex signalling node at the peroxisome regulates mTORC1 and autophagy in response to ROS. 62 5
23955302 2013
50
Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex. 62 5
22903760 2013
Sources

Variations for Tuberous Sclerosis 2

About this section

ClinVar genetic disease variations for Tuberous Sclerosis 2:

5 (show top 50) (show all 6391)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TSC2 NM_000548.5(TSC2):c.5161del (p.Met1721fs) DEL Pathogenic
 49360 rs137854251 GRCh37: 16:2138228-2138228
GRCh38: 16:2088227-2088227
2 TSC2 NM_000548.5(TSC2):c.4642del (p.Leu1548fs) DEL Pathogenic
 12392 rs137854083 GRCh37: 16:2135302-2135302
GRCh38: 16:2085301-2085301
3 TSC2 NM_000548.5(TSC2):c.34A>T (p.Lys12Ter) SNV Pathogenic
 12394 rs45512692 GRCh37: 16:2098650-2098650
GRCh38: 16:2048649-2048649
4 TSC2 NM_000548.5(TSC2):c.2056_2059dup (p.Ser687fs) DUP Pathogenic
 12395 rs137854337 GRCh37: 16:2121893-2121894
GRCh38: 16:2071892-2071893
5 TSC2 NM_000548.5(TSC2):c.2150T>G (p.Leu717Arg) SNV Pathogenic
 12398 rs45517214 GRCh37: 16:2122294-2122294
GRCh38: 16:2072293-2072293
6 TSC2 NM_000548.5(TSC2):c.1432C>T (p.Gln478Ter) SNV Pathogenic
 12399 rs121964862 GRCh37: 16:2113043-2113043
GRCh38: 16:2063042-2063042
7 TSC2 NM_000548.5(TSC2):c.2713C>G (p.Arg905Gly) SNV Pathogenic
 12405 rs45517258 GRCh37: 16:2126142-2126142
GRCh38: 16:2076141-2076141
8 TSC2 NM_000548.5(TSC2):c.2355+2_2355+5del DEL Pathogenic
 12406 rs137854250 GRCh37: 16:2122983-2122986
GRCh38: 16:2072982-2072985
9 TSC2 NM_000548.5(TSC2):c.1322G>A (p.Trp441Ter) SNV Pathogenic
 12407 rs45515894 GRCh37: 16:2112562-2112562
GRCh38: 16:2062561-2062561
10 TSC2 NM_000548.5(TSC2):c.826_827del (p.Met276fs) DEL Pathogenic
 49447 rs137853977 GRCh37: 16:2107157-2107158
GRCh38: 16:2057156-2057157
11 TSC2 NM_000548.5(TSC2):c.3401del (p.Gly1134Alafs) DEL Pathogenic
 50076 rs137854314 GRCh37: 16:2130169-2130169
GRCh38: 16:2080164-2080164
12 TSC2 NM_000548.5(TSC2):c.1444-2A>G SNV Pathogenic
 49633 rs45517174 GRCh37: 16:2114271-2114271
GRCh38: 16:2064270-2064270
13 TSC2 NM_000548.5(TSC2):c.569dup (p.Tyr190Ter) DUP Pathogenic
 50038 rs137854359 GRCh37: 16:2105489-2105490
GRCh38: 16:2055488-2055489
14 TSC2 NM_000548.5(TSC2):c.4318C>T (p.Gln1440Ter) SNV Pathogenic
 49524 rs45517337 GRCh37: 16:2134541-2134541
GRCh38: 16:2084540-2084540
15 TSC2 NM_000548.5(TSC2):c.2356-2A>C SNV Pathogenic
 49205 rs45517229 GRCh37: 16:2124199-2124199
GRCh38: 16:2074198-2074198
16 TSC2 NM_000548.5(TSC2):c.2639+1G>C SNV Pathogenic
 49845 rs45517252 GRCh37: 16:2125894-2125894
GRCh38: 16:2075893-2075893
17 TSC2 NM_000548.5(TSC2):c.848+1G>A SNV Pathogenic
 49922 rs45466296 GRCh37: 16:2107180-2107180
GRCh38: 16:2057179-2057179
18 TSC2 NM_000548.5(TSC2):c.226-2A>G SNV Pathogenic
 49200 rs45517096 GRCh37: 16:2103341-2103341
GRCh38: 16:2053340-2053340
19 TSC2 NM_000548.5(TSC2):c.4762C>T (p.Gln1588Ter) SNV Pathogenic
 50097 rs45479192 GRCh37: 16:2136293-2136293
GRCh38: 16:2086292-2086292
20 TSC2 NM_000548.5(TSC2):c.4934_4935del (p.Phe1645fs) DEL Pathogenic
 49981 rs137854141 GRCh37: 16:2136816-2136817
GRCh38: 16:2086815-2086816
21 TSC2 NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) SNV Pathogenic
 49153 rs45517169 GRCh37: 16:2112983-2112983
GRCh38: 16:2062982-2062982
22 TSC2 NM_000548.5(TSC2):c.5160+1G>A SNV Pathogenic
 49425 rs45517399 GRCh37: 16:2138141-2138141
GRCh38: 16:2088140-2088140
23 TSC2 NM_000548.5(TSC2):c.4180_4181del (p.Leu1394fs) MICROSAT Pathogenic
 50061 rs137854363 GRCh37: 16:2134401-2134402
GRCh38: 16:2084400-2084401
24 TSC2 NM_000548.5(TSC2):c.648+1G>A SNV Pathogenic
 49410 rs45488893 GRCh37: 16:2106246-2106246
GRCh38: 16:2056245-2056245
25 TSC2 NM_000548.5(TSC2):c.4096G>T (p.Glu1366Ter) SNV Pathogenic
 49555 rs45517327 GRCh37: 16:2134319-2134319
GRCh38: 16:2084318-2084318
26 TSC2 NM_000548.5(TSC2):c.646G>T (p.Glu216Ter) SNV Pathogenic
 49380 rs45517118 GRCh37: 16:2106243-2106243
GRCh38: 16:2056242-2056242
27 TSC2 NM_000548.5(TSC2):c.3696dup (p.Asn1233Ter) DUP Pathogenic
 49539 rs137854210 GRCh37: 16:2131680-2131681
GRCh38: 16:2081679-2081680
28 TSC2 NM_000548.5(TSC2):c.5252_5259+19del DEL Pathogenic
 49366 rs137854397 GRCh37: 16:2138313-2138339
GRCh38: 16:2088312-2088338
29 TSC2 NM_000548.5(TSC2):c.1959_1960del (p.Gly654fs) MICROSAT Pathogenic
 65311 rs137854144 GRCh37: 16:2121791-2121792
GRCh38: 16:2071790-2071791
30 TSC2 NM_000548.5(TSC2):c.4147_4163dup (p.Pro1389fs) DUP Pathogenic
 65019 rs397515009 GRCh37: 16:2134369-2134370
GRCh38: 16:2084368-2084369
31 TSC2 NM_000548.5(TSC2):c.1255C>T (p.Pro419Ser) SNV Pathogenic
 50176 rs45517159 GRCh37: 16:2112007-2112007
GRCh38: 16:2062006-2062006
32 TSC2 NM_000548.5(TSC2):c.4989+1G>A SNV Pathogenic
 49468 rs45517386 GRCh37: 16:2136873-2136873
GRCh38: 16:2086872-2086872
33 TSC2 NM_000548.5(TSC2):c.45dup (p.Lys16Ter) DUP Pathogenic
 217252 rs397515020 GRCh37: 16:2098658-2098659
GRCh38: 16:2048657-2048658
34 TSC2 NM_000548.5(TSC2):c.2108G>A (p.Trp703Ter) SNV Pathogenic
 49736 rs45517213 GRCh37: 16:2122252-2122252
GRCh38: 16:2072251-2072251
35 TSC2 NM_000548.5(TSC2):c.5140del (p.Gln1714fs) DEL Pathogenic
 238075 rs878854115 GRCh37: 16:2138119-2138119
GRCh38: 16:2088118-2088118
36 TSC2 NM_000548.5(TSC2):c.1840G>C (p.Ala614Pro) SNV Pathogenic
 237972 rs397515199 GRCh37: 16:2121511-2121511
GRCh38: 16:2071510-2071510
37 TSC2 NM_000548.5(TSC2):c.1160dup (p.Leu388fs) DUP Pathogenic
 237960 rs878854075 GRCh37: 16:2111911-2111912
GRCh38: 16:2061910-2061911
38 TSC2 NM_000548.5(TSC2):c.2098-1G>A SNV Pathogenic
 49730 rs45517212 GRCh37: 16:2122241-2122241
GRCh38: 16:2072240-2072240
39 TSC2 NM_000548.5(TSC2):c.2429_2461delinsC (p.Ile810fs) INDEL Pathogenic
 237989 rs878854082 GRCh37: 16:2124274-2124306
GRCh38: 16:2074273-2074305
40 TSC2 NM_000548.5(TSC2):c.4473del (p.Val1492fs) DEL Pathogenic
 238047 rs397515023 GRCh37: 16:2134694-2134694
GRCh38: 16:2084693-2084693
41 TSC2 NM_000548.5(TSC2):c.2688G>A (p.Trp896Ter) SNV Pathogenic
 64888 rs397514913 GRCh37: 16:2126117-2126117
GRCh38: 16:2076116-2076116
42 TSC2 NM_000548.5(TSC2):c.5266del (p.Glu1756fs) DEL Pathogenic
 238080 rs878854118 GRCh37: 16:2138453-2138453
GRCh38: 16:2088452-2088452
43 TSC2 NM_000548.5(TSC2):c.5168C>G (p.Ser1723Ter) SNV Pathogenic
 397548 rs1060499676 GRCh37: 16:2138235-2138235
GRCh38: 16:2088234-2088234
44 TSC2 NC_000016.9:g.(?_2098645)_(2130379_2131595)del DEL Pathogenic
 397515 GRCh37: 16:2098645-2131595
GRCh38: 16:2048644-2081594
45 TSC2 NM_000548.3(TSC2):c.1600-?_1716+?del DEL Pathogenic
 254037 GRCh37: 16:2115520-2115636
GRCh38: 16:2065519-2065635
46 TSC2 NM_000548.5(TSC2):c.421G>T (p.Glu141Ter) SNV Pathogenic
 405985 rs1060500924 GRCh37: 16:2104381-2104381
GRCh38: 16:2054380-2054380
47 TSC2 NC_000016.10:g.(?_2048587)_(2065635_?)del DEL Pathogenic
 417364 GRCh37: 16:2098588-2115636
GRCh38: 16:2048587-2065635
48 TSC2 NM_000548.5(TSC2):c.3884-497_5045del DEL Pathogenic
 406064 GRCh37: 16:2133199-2137919
GRCh38: 16:2083198-2087918
49 TSC2 NM_000548.5(TSC2):c.3132-1G>T SNV Pathogenic
 406021 rs45443096 GRCh37: 16:2129276-2129276
GRCh38: 16:2079275-2079275
50 TSC2 NM_000548.5(TSC2):c.1582del (p.Leu528fs) DEL Pathogenic
 403720 rs1060499647 GRCh37: 16:2114411-2114411
GRCh38: 16:2064410-2064410

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

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

# Super pathways Score Top Affiliating Genes
1
Vesicle-mediated transport 66
Show member pathways
 12.55 TSC2 RABEP1 RAB5A
2
wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF) 22
Show member pathways
 11.74 RABEP1 RAB5A
3
T-cell activation SARS-CoV-2 74
Show member pathways
 11.34 TSC2 IFNG
4
Rab regulation of trafficking 66
Show member pathways
 11.21 TSC2 RABEP1 RAB5A
5
Delta508-CFTR traffic / Sorting endosome formation in CF 22
Show member pathways
 10.55 RABEP1 RAB5A
Sources

GO Terms for Tuberous Sclerosis 2

About this section

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

# Name GO ID Score Top Affiliating Genes
1 endocytic vesicle GO:0030139 8.92 RABEP1 RAB5A

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

# Name GO ID Score Top Affiliating Genes
1 regulation of endocytosis GO:0030100 9.26 RAB5A TSC2
2 endocytosis GO:0006897 9.1 TSC2 RABEP1 RAB5A
Sources

Sources for Tuberous Sclerosis 2

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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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