TSC1
MCID: TBR025
MIFTS: 74

Tuberous Sclerosis 1 (TSC1)

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

Aliases & Classifications for Tuberous Sclerosis 1

MalaCards integrated aliases for Tuberous Sclerosis 1:

Name: Tuberous Sclerosis 1 57 12 74 29 6 15 72
Tuberous Sclerosis Complex 57 75 24 25 59 74 37
Tuberous Sclerosis, Type 1 75 53 40
Tuberous Sclerosis 59 74 72
Tuberous Sclerosis-1 57 13
Bourneville Syndrome 59 74
Bourneville Disease 24 25
Tuberose Sclerosis 57 25
Tsc1 57 74
Ts 57 74
Tuberous Sclerosis Complex; Tsc 57
Bourneville Phakomatosis 25
Tuberose Sclerosis; Ts 57
Cerebral Sclerosis 25
Sclerosis Tuberosa 25
Epiloia 25
Tsc 57

Characteristics:

Orphanet epidemiological data:

59
tuberous sclerosis complex
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (United States),1-5/10000 (Europe),1-9/100000 (Ireland),1-9/100000 (United Kingdom),1-5/10000 (United Kingdom),1-9/100000 (United States),1-9/100000 (Taiwan, Province of China); Age of onset: All ages; Age of death: any age;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
majority of cases are sporadic
highly variable phenotype
genetic heterogeneity (see )
many studies have reported that the phenotype of tuberous sclerosis-1 (tsc1) is less severe than that of tuberous sclerosis-2 (i.e., higher iq, less macules, fewer seizures)
one-third of cases are familial
prevalence of 1 in 6,000 to 1 in 10,000
frequent new mutations (~86%) and/or gonadal mosaicism in tsc1


HPO:

32
tuberous sclerosis 1:
Inheritance autosomal dominant inheritance heterogeneous


GeneReviews:

24
Penetrance After detailed evaluation of each individual known to have a tsc1 or tsc2 pathogenic variant, the penetrance of tsc is now thought to be 100%. rare instances of apparent non-penetrance have been reported; however, molecular studies revealed the presence of two different pathogenic variants in the family and the existence of germline mosaicism in others [connor et al 1986, webb & osborne 1991, rose et al 1999].

Classifications:



External Ids:

Disease Ontology 12 DOID:0080324
KEGG 37 H00915
MeSH 44 D014402
MESH via Orphanet 45 D014402
ICD10 via Orphanet 34 Q85.1
UMLS via Orphanet 73 C0041341
Orphanet 59 ORPHA805
UMLS 72 C0041341 C1854465

Summaries for Tuberous Sclerosis 1

Genetics Home Reference : 25 Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. These tumors can occur in the skin, brain, kidneys, and other organs, in some cases leading to significant health problems. Tuberous sclerosis complex also causes developmental problems, and the signs and symptoms of the condition vary from person to person. Virtually all affected people have skin abnormalities, including patches of unusually light-colored skin, areas of raised and thickened skin, and growths under the nails. Tumors on the face called facial angiofibromas are also common beginning in childhood. Tuberous sclerosis complex often affects the brain, causing seizures, behavioral problems such as hyperactivity and aggression, and intellectual disability or learning problems. Some affected children have the characteristic features of autism, a developmental disorder that affects communication and social interaction. Benign brain tumors can also develop in people with tuberous sclerosis complex; these tumors can cause serious or life-threatening complications. Kidney tumors are common in people with tuberous sclerosis complex; these growths can cause severe problems with kidney function and may be life-threatening in some cases. Additionally, tumors can develop in the heart, lungs, and the light-sensitive tissue at the back of the eye (the retina).

MalaCards based summary : Tuberous Sclerosis 1, also known as tuberous sclerosis complex, is related to lymphangioleiomyomatosis and focal cortical dysplasia, type ii, and has symptoms including seizures, tremor and back pain. An important gene associated with Tuberous Sclerosis 1 is TSC1 (TSC Complex Subunit 1), and among its related pathways/superpathways are p53 signaling pathway and mTOR signaling pathway. The drugs Doxycycline and Vigabatrin have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and skin, and related phenotypes are eeg abnormality and papule

Disease Ontology : 12 A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has material basis in heterozygous mutation in the TSC1 gene on chromosome 9q34.

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. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). (191100)

KEGG : 37
Tuberous sclerosis complex (TSC), also known as Bourneville-Pringle disease, is a rare, slowly progressive genetic disorder characterized by pervasive benign tumors in most organ systems including the brain, skin, kidney, liver, lung, and heart, which is inherited in an autosomal dominant manner. Patients with TSC are frequently diagnosed with comorbid neurological disorders, including epilepsy, intellectual disability, behavioral dysregulation, sleep disorders, and autism spectrum disorders (ASD). TSC most often results from spontaneous genetic mutations in one or two genes, TSC1 and TSC2, which encode hamartin and tuberin, respectively. These gene products form a physical and functional complex to limit activation of the mammalian target rapamycin (mTOR) complex 1. When these genes are deficient, mTOR complex 1 is constitutively up-regulated, leading to uncontrolled cell growth and protein synthesis.

UniProtKB/Swiss-Prot : 74 Tuberous sclerosis 1: An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes.

Wikipedia : 75 Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes... more...

GeneReviews: NBK1220

Related Diseases for Tuberous Sclerosis 1

Diseases in the Tuberous Sclerosis family:

Tuberous Sclerosis 1 Tuberous Sclerosis 2

Diseases related to Tuberous Sclerosis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 885)
# Related Disease Score Top Affiliating Genes
1 lymphangioleiomyomatosis 33.5 TSC2 TSC1 MTOR
2 focal cortical dysplasia, type ii 33.4 TSC2 TSC1 MTOR
3 subependymal giant cell astrocytoma 33.3 TSC2 TSC1 MTOR
4 congenital heart defects, hamartomas of tongue, and polysyndactyly 32.8 TSC2 TSC1 CCL26
5 polycystic kidney disease 1 with or without polycystic liver disease 32.6 TSC2 TSC1 MTOR
6 kidney angiomyolipoma 32.6 TSC2 TSC1 RHEB MTOR
7 cystic kidney disease 32.6 TSC2 TSC1 CCL26
8 angiomyolipoma 32.4 TSC2 TSC1 MTOR CCL26
9 focal epilepsy 32.3 TSC2 TSC1 MTOR
10 tuberous sclerosis 32.3 TSC2 TSC1 RHEB MTOR CCL26
11 lissencephaly with cerebellar hypoplasia 32.2 TSC2 TSC1
12 adult hepatocellular carcinoma 32.1 TSC2 TSC1
13 subependymal glioma 32.1 TSC2 TSC1 MTOR
14 benign ependymoma 32.0 TSC2 TSC1 MTOR
15 kidney benign neoplasm 32.0 TSC2 MTOR
16 tuberous sclerosis 2 32.0 TSC2 TSC1 MTOR
17 corneal dystrophy, fleck 31.9 TSC2 TSC1
18 central nervous system benign neoplasm 31.6 TSC2 MTOR
19 hepatic angiomyolipoma 30.8 TSC2 MTOR
20 autosomal dominant polycystic kidney disease 30.5 TSC2 TSC1 MTOR
21 cerebral sclerosis similar to pelizaeus-merzbacher disease 12.4
22 sudanophilic cerebral sclerosis 12.4
23 gilles de la tourette syndrome 12.4
24 cerebral sclerosis, diffuse, scholz type 12.2
25 turner syndrome 12.1
26 timothy syndrome 12.0
27 adrenoleukodystrophy 11.9
28 metachromatic leukodystrophy 11.9
29 virus-associated trichodysplasia spinulosa 11.9
30 bladder cancer 11.8
31 hemimegalencephaly 11.7
32 wolff-parkinson-white syndrome 11.7
33 tumefactive multiple sclerosis 11.7
34 epilepsy 11.7
35 autism spectrum disorder 11.7
36 temperature sensitivity complementation, cell cycle specific, k12 11.6
37 soft tissue sarcoma 11.6
38 ganglioglioma 11.6
39 lung disease 11.6
40 fibroma 11.6
41 pneumothorax 11.6
42 inherited cancer-predisposing syndrome 11.6
43 myelinoclastic diffuse sclerosis 11.6
44 visual epilepsy 11.5
45 polycystic liver disease 1 with or without kidney cysts 11.5
46 gitelman syndrome 11.5
47 mitochondrial dna depletion syndrome 4a 11.4
48 renal oncocytoma 11.4
49 west syndrome 11.4
50 trichostasis spinulosa 11.3

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



Diseases related to Tuberous Sclerosis 1

Symptoms & Phenotypes for Tuberous Sclerosis 1

Human phenotypes related to Tuberous Sclerosis 1:

59 32 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
2 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
3 prominent occiput 59 32 hallmark (90%) Very frequent (99-80%) HP:0000269
4 angiofibromas 59 32 hallmark (90%) Very frequent (99-80%) HP:0010615
5 subependymal nodules 59 32 hallmark (90%) Very frequent (99-80%) HP:0009716
6 subependymal giant-cell astrocytoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0009718
7 skin tags 59 32 hallmark (90%) Very frequent (99-80%) HP:0010609
8 ungual fibroma 59 32 hallmark (90%) Very frequent (99-80%) HP:0100804
9 intellectual disability 59 32 very rare (1%) Frequent (79-30%) HP:0001249
10 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
11 behavioral abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000708
12 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
13 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
14 hypopigmented skin patches 59 32 frequent (33%) Frequent (79-30%) HP:0001053
15 multiple cafe-au-lait spots 59 32 frequent (33%) Frequent (79-30%) HP:0007565
16 confetti-like hypopigmented macules 59 32 frequent (33%) Frequent (79-30%) HP:0007449
17 nevus flammeus 59 32 frequent (33%) Frequent (79-30%) HP:0001052
18 retinal hamartoma 59 32 frequent (33%) Frequent (79-30%) HP:0009594
19 shagreen patch 59 32 frequent (33%) Frequent (79-30%) HP:0009721
20 cortical dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002539
21 achromatic retinal patches 59 32 frequent (33%) Frequent (79-30%) HP:0009727
22 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
23 precocious puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000826
24 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
25 cerebral calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0002514
26 increased intracranial pressure 59 32 occasional (7.5%) Occasional (29-5%) HP:0002516
27 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
28 emphysema 59 32 occasional (7.5%) Occasional (29-5%) HP:0002097
29 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
30 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
31 gingivitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000230
32 multiple renal cysts 59 32 occasional (7.5%) Occasional (29-5%) HP:0005562
33 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
34 neoplasm of the pancreas 59 32 occasional (7.5%) Occasional (29-5%) HP:0002894
35 abnormality of the liver 59 32 occasional (7.5%) Occasional (29-5%) HP:0001392
36 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
37 macrodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0004099
38 pneumothorax 59 32 occasional (7.5%) Occasional (29-5%) HP:0002107
39 gingival fibromatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000169
40 renal angiomyolipoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0006772
41 dental enamel pits 59 32 occasional (7.5%) Occasional (29-5%) HP:0009722
42 cardiac rhabdomyoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0009729
43 chylothorax 59 32 occasional (7.5%) Occasional (29-5%) HP:0010310
44 pulmonary lymphangiomyomatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012798
45 dilatation 32 occasional (7.5%) HP:0002617
46 abnormality of the respiratory system 59 32 Occasional (29-5%) HP:0002086
47 subcutaneous nodule 32 HP:0001482
48 autism 32 HP:0000717
49 attention deficit hyperactivity disorder 32 HP:0007018
50 abnormality of the pleura 59 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
hypothyroidism
precocious puberty

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
autism
attention deficit disorder

Head And Neck Eyes:
achromatic retinal patches
retinal astrocytoma
optic gliomas

Neoplasia:
ependymoma
chordoma
renal carcinoma
myocardial rhabdomyoma
multiple bilateral renal angiomyolipoma
more
Head And Neck Mouth:
pitted dental enamel
gingival fibroma

Skeletal:
cystic areas of bone rarefaction, esp. phalanges

Neurologic Central Nervous System:
seizures
infantile spasms
subependymal nodules
cortical tubers
hamartomatous lesions of the brain
more
Skin Nails Hair Skin:
shagreen patch
subcutaneous nodules
cafe-au-lait spots
facial angiofibroma (adenoma sebaceum)
white ash leaf-shaped macules
more
Cardiovascular Heart:
cardiac rhabdomyoma
wolf-parkinson-white syndrome

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

Respiratory Lung:
lymphangiomyomatosis, rare

Laboratory Abnormalities:
increased frequency of premature centromere disjunction (pcd) in cultured fibroblasts, esp. chromosome 3
loss of heterozygosity in giant cell astrocytomas, angiomyolipomas, rhabdomyomas

Clinical features from OMIM:

191100

UMLS symptoms related to Tuberous Sclerosis 1:


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

MGI Mouse Phenotypes related to Tuberous Sclerosis 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.02 ARHGEF28 MTOR NXN RHEB RPS6KB2 RPTOR
2 growth/size/body region MP:0005378 9.96 ARHGEF28 COL5A1 MID1 MTOR NXN RHEB
3 cardiovascular system MP:0005385 9.95 COL5A1 MTOR NXN RHEB RPS6KB2 TSC1
4 embryo MP:0005380 9.92 COL5A1 MID1 MTOR NXN RHEB RPTOR
5 mortality/aging MP:0010768 9.85 COL5A1 MID1 MTOR NXN RHEB RPS6KB2
6 muscle MP:0005369 9.43 MID1 MTOR RHEB RPS6KB2 RPTOR TSC1
7 normal MP:0002873 9.23 ARHGEF28 COL5A1 MID1 MTOR RHEB RPS6KB2

Drugs & Therapeutics for Tuberous Sclerosis 1

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

(show top 50) (show all 164)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
2
Vigabatrin Approved Phase 4 60643-86-9, 68506-86-5 5665
3 Antimalarials Phase 4
4 Antiparasitic Agents Phase 4
5 Antiprotozoal Agents Phase 4
6 Anticonvulsants Phase 4
7 GABA Agents Phase 4
8 Neurotransmitter Agents Phase 4
9
Phenobarbital Approved, Investigational Phase 3 50-06-6 4763
10
Clonazepam Approved, Illicit Phase 3 1622-61-3 2802
11
Clobazam Approved, Illicit Phase 3 22316-47-8 2789
12
Topiramate Approved Phase 3 97240-79-4 5284627
13
Phenytoin Approved, Vet_approved Phase 3 57-41-0 1775
14
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
15
Carbamazepine Approved, Investigational Phase 3 298-46-4 2554
16
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
17
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
18
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
19
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
20
Dronabinol Approved, Illicit Phase 3 1972-08-3 16078
21 Strawberry Approved Phase 3
22
Ethanol Approved Phase 3 64-17-5 702
23
Carvedilol Approved, Investigational Phase 2, Phase 3 72956-09-3 2585
24
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 5280453 134070
25
Melatonin Approved, Nutraceutical, Vet_approved Phase 3 73-31-4 896
26
Calcium Approved, Nutraceutical Phase 2, Phase 3 7440-70-2 271
27
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
28 Micronutrients Phase 3
29 Trace Elements Phase 3
30 Vitamins Phase 3
31 Nutrients Phase 3
32 Vasoconstrictor Agents Phase 3
33 Bone Density Conservation Agents Phase 3
34 Central Nervous System Depressants Phase 3
35 Peripheral Nervous System Agents Phase 3
36 Anti-Inflammatory Agents Phase 3
37 Hormone Antagonists Phase 3
38 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
39 Gastrointestinal Agents Phase 3
40 Antineoplastic Agents, Hormonal Phase 3
41 Neuroprotective Agents Phase 3
42 glucocorticoids Phase 3
43 Methylprednisolone Acetate Phase 3
44 Antiemetics Phase 3
45 Prednisolone acetate Phase 3
46 Autonomic Agents Phase 3
47 Sunflower Phase 3
48 Pharmaceutical Solutions Phase 3
49 Epidiolex Phase 3
50 Anti-Bacterial Agents Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 105)
# 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 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 Phase III Randomized, Double-Blind, Sham-Controlled Study of Plasma Exchange for Acute Severe Attacks of Inflammatory Demyelinating Disease Refractory to Intravenous Methylprednisolone Unknown status NCT00004645 Phase 3
9 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
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 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 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)
13 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
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 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
16 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
17 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
18 Prednisolone vs. Vigabatrin in the First-line Treatment of Infantile Spasms Recruiting NCT02299115 Phase 3 Prednisolone;Vigabatrin
19 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
20 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
21 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
22 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
23 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
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 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
26 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
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 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)
29 Everolimus (RAD001) Therapy for Epilepsy in Patients With Tuberous Sclerosis Complex Completed NCT01070316 Phase 1, Phase 2 Everolimus
30 RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457964 Phase 1, Phase 2 RAD001
31 Everolimus (RAD001)Therapy of Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex Completed NCT00411619 Phase 1, Phase 2 Everolimus
32 Rapalogues for Autism Phenotype in TSC: A Feasibility Study Completed NCT01929642 Phase 2 Sirolimus;Everolimus
33 Phase II Study of Topical Rapamycin to Erase Angiofibromas in TSC-Multicenter Evaluation of a Novel Therapy Completed NCT01526356 Phase 2 Placebo;Rapamycin;Rapamycin
34 A TRIAL OF LETROZOLE IN PULMONARY LYMPHANGIOLEIOMYOMATOSIS Completed NCT01353209 Phase 2 Letrozole;Placebo
35 Randomized Double-Blind Phase 2 Trial Of RAD001 For Neurocognition In Individuals With Tuberous Sclerosis Complex Completed NCT01289912 Phase 2 RAD001;Placebo
36 Phase II Study of Everolimus in Patients With Advanced Solid Malignancies With TSC1, TSC2, NF1, NF2, or STK11 Mutations Completed NCT02352844 Phase 2 Everolimus
37 Rapamycin Therapy of Angiomyolipomas in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457808 Phase 2 Rapamycin, sirolimus
38 Phase II Study of Everolimus (RAD001, Afinitor®) for Children With Recurrent or Progressive Ependymoma Completed NCT02155920 Phase 2 Everolimus
39 An Angiogenic Study in Patients With Well/Moderately Differentiated Metastatic Pancreatic Neuroendocrine Tumors Treated With Everolimus Completed NCT02305810 Phase 2 Everolimus 10 mg daily
40 Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers: Pilot Trial Completed NCT02104011 Phase 2 Propranolol
41 The ScanBrit Randomised Controlled Study of Gluten- and Casein-free Dietary Intervention for Children With Autism Spectrum Disorders Completed NCT00614198 Phase 2
42 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
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 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
45 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
46 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
47 A Pilot Study To Evaluate The Effects of Everolimus on Brain mTOR Activity and Cortical Hyperexcitability in TSC and FCD Recruiting NCT02451696 Phase 2 Everolimus
48 Safety and Efficacy of Saracatinib In Subjects With Lymphangioleiomyomatosis Recruiting NCT02737202 Phase 2 saracatinib
49 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 Recruiting NCT03047213 Phase 2 Sapanisertib
50 A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-935 as an Adjunctive Therapy in Pediatric Patients With Developmental and/or Epileptic Encephalopathies Recruiting NCT03650452 Phase 2 TAK-935;Placebo

Search NIH Clinical Center for Tuberous Sclerosis 1

Genetic Tests for Tuberous Sclerosis 1

Genetic tests related to Tuberous Sclerosis 1:

# Genetic test Affiliating Genes
1 Tuberous Sclerosis 1 29 TSC1

Anatomical Context for Tuberous Sclerosis 1

MalaCards organs/tissues related to Tuberous Sclerosis 1:

41
Kidney, Brain, Skin, Lung, Heart, Liver, Eye

Publications for Tuberous Sclerosis 1

Articles related to Tuberous Sclerosis 1:

(show top 50) (show all 3358)
# Title Authors PMID Year
1
Non-penetrance in tuberous sclerosis. 4 8 71
1870099 1991
2
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. 38 8 71
9242607 1997
3
TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex. 38 4 8
19419980 2009
4
Neuropsychological attention deficits in tuberous sclerosis complex (TSC). 38 4 8
19215038 2009
5
Missense mutations to the TSC1 gene cause tuberous sclerosis complex. 38 4 71
18830229 2009
6
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. 38 4 8
17304050 2007
7
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. 38 4 71
17120248 2006
8
The tuberous sclerosis complex. 38 4 8
17005952 2006
9
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. 38 4 8
15798777 2005
10
A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex. 38 4 71
11403047 2001
11
Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. 38 4 71
10823953 2000
12
Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance. 8 71
9924605 1998
13
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. 4 8
11112665 2001
14
Genetic aspects of tuberous sclerosis in the west of Scotland. 4 8
2918523 1989
15
Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex. 38 8
25288394 2014
16
Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population. 38 8
21266383 2011
17
Three independent mutations in the TSC2 gene in a family with tuberous sclerosis. 38 71
19259131 2009
18
Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex. 38 8
19332694 2009
19
Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex. 38 8
18389497 2008
20
Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations. 38 8
18032745 2008
21
Aggressive retinal astrocytomas in 4 patients with tuberous sclerosis complex. 38 8
15955990 2005
22
Astrocyte-specific TSC1 conditional knockout mice exhibit abnormal neuronal organization and seizures. 38 8
12205640 2002
23
Heterozygosity for the tuberous sclerosis complex (TSC) gene products results in increased astrocyte numbers and decreased p27-Kip1 expression in TSC2+/- cells. 38 8
12037687 2002
24
Renal angiomyolipomata and learning difficulty in tuberous sclerosis complex. 38 8
10712110 2000
25
Tuberous Sclerosis Complex 38 71
20301399 1999
26
High rate of mosaicism in tuberous sclerosis complex. 38 8
10330349 1999
27
Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood. 38 71
10206124 1999
28
Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. 38 8
9881533 1998
29
White matter abnormalities in tuberous sclerosis complex. 38 8
9755694 1998
30
Tuberous sclerosis complex and Wolff-Parkinson-White syndrome. 38 8
9579160 1998
31
Tuberous sclerosis complex: neonatal deaths in three of four children of consanguineous, non-expressing parents. 38 8
9132502 1997
32
The cutaneous features of tuberous sclerosis: a population study. 38 8
8776349 1996
33
Unilateral facial angiofibromas--a segmental form of tuberous sclerosis. 38 8
8733380 1996
34
Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex. 38 71
8825048 1996
35
Mutation analysis of the TSC2 gene in an African-American family. 38 71
8634701 1995
36
Somatic mosaicism and clinical variation in tuberous sclerosis complex. 38 71
7823706 1995
37
Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere. 38 8
1415216 1992
38
Early autism symptoms in infants with tuberous sclerosis complex. 38 4
28801991 2017
39
Tumor suppressor Tsc1 is a new Hsp90 co-chaperone that facilitates folding of kinase and non-kinase clients. 38 4
29127155 2017
40
Self-injury and aggression in adults with tuberous sclerosis complex: Frequency, associated person characteristics, and implications for assessment. 38 4
28411579 2017
41
Beneficial Effects of Everolimus on Autism and Attention-Deficit/Hyperactivity Disorder Symptoms in a Group of Patients with Tuberous Sclerosis Complex. 38 4
27797585 2017
42
Influence of seizures on early development in tuberous sclerosis complex. 38 4
28457992 2017
43
TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex. 38 4
28211972 2017
44
Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex. 38 4
28127866 2017
45
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. 71
27854360 2017
46
TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients. 38 4
28057044 2017
47
Loss of Tuberous Sclerosis Complex 2 (TSC2) as a Predictive Biomarker of Response to mTOR Inhibitor Treatment in Patients with Hepatocellular Carcinoma. 38 4
27751352 2016
48
Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study. 38 4
27613521 2016
49
Symptom profiles of autism spectrum disorder in tuberous sclerosis complex. 38 4
27440144 2016
50
Tuberous sclerosis complex. 38 4
27226234 2016

Variations for Tuberous Sclerosis 1

ClinVar genetic disease variations for Tuberous Sclerosis 1:

6 (show top 50) (show all 3186)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TSC1 NC_000009.11 deletion Pathogenic 9:135750586-135776102 9:132875199-132900715
2 TSC1 NM_000368.4(TSC1): c.1518del (p.Tyr508fs) deletion Pathogenic rs1060503210 9:135781447-135781447 9:132906060-132906060
3 TSC1 NM_000368.4(TSC1): c.2165del (p.Lys722fs) deletion Pathogenic rs1060503213 9:135779081-135779081 9:132903694-132903694
4 TSC2 NM_000548.3(TSC2): c.5160+2_5160+3delTG deletion Pathogenic rs137854036 16:2138142-2138143 16:2088141-2088142
5 TSC1 NC_000009.11: g.(?_135785938)_(135787864_?)del deletion Pathogenic 9:135785938-135787864 9:132910551-132912477
6 TSC1 NM_000368.4(TSC1): c.2341_2360dup (p.Glu787fs) duplication Pathogenic rs1554814935 9:135778023-135778042 9:132902636-132902655
7 TSC1 NM_000368.4(TSC1): c.24_42delinsCAA (p.Glu9fs) indel Pathogenic rs1554821022 9:135804218-135804236 9:132928831-132928849
8 TSC1 NM_000368.4(TSC1): c.2027G> A (p.Trp676Ter) single nucleotide variant Pathogenic rs1554815454 9:135779812-135779812 9:132904425-132904425
9 TSC1 NM_000368.4(TSC1): c.2231_2235del (p.Glu744fs) deletion Pathogenic rs1554815049 9:135778148-135778152 9:132902761-132902765
10 TSC1 NM_000368.4(TSC1): c.1388dup (p.Leu463fs) duplication Pathogenic rs1064796237 9:135782168-135782168 9:132906781-132906781
11 TSC1 NM_000368.4(TSC1): c.1781del (p.Val594fs) deletion Pathogenic rs1554815829 9:135781184-135781184 9:132905797-132905797
12 TSC1 NM_000368.4(TSC1): c.2524C> T (p.Gln842Ter) single nucleotide variant Pathogenic rs1447417010 9:135776203-135776203 9:132900816-132900816
13 TSC1 NM_000368.4(TSC1): c.2177_2180dup (p.Ala728fs) duplication Pathogenic rs1554815246 9:135779066-135779069 9:132903679-132903682
14 TSC1 NM_000368.4(TSC1): c.850dup (p.Arg284fs) duplication Pathogenic rs1554817612 9:135787732-135787732 9:132912345-132912345
15 TSC1 NM_000368.4(TSC1): c.1073del (p.Pro358fs) deletion Pathogenic rs1554817259 9:135786457-135786457 9:132911070-132911070
16 TSC1 NC_000009.11: g.(?_135771616)_(135804265_?)del deletion Pathogenic 9:135771616-135804265 9:132896229-132928878
17 TSC1 NM_000368.4(TSC1): c.751G> T (p.Glu251Ter) single nucleotide variant Pathogenic rs1554817691 9:135787831-135787831 9:132912444-132912444
18 TSC1 NM_000368.4(TSC1): c.1758del (p.Pro585_Cys586insTer) deletion Pathogenic rs1554815856 9:135781207-135781207 9:132905820-132905820
19 TSC1 NM_000368.4(TSC1): c.1444_1445AT[1] (p.Ile482_Ser483insTer) short repeat Pathogenic rs1554816076 9:135781518-135781519 9:132906131-132906132
20 TSC1 NM_000368.4(TSC1): c.1301dup (p.Gln435fs) duplication Pathogenic rs1554816394 9:135782720-135782720 9:132907333-132907333
21 TSC1 NM_000368.4(TSC1): c.1208C> A (p.Ser403Ter) single nucleotide variant Pathogenic rs118203504 9:135786013-135786013 9:132910626-132910626
22 TSC1 NM_000368.4(TSC1): c.1130_1131del (p.Phe377fs) deletion Pathogenic rs1554817222 9:135786399-135786400 9:132911012-132911013
23 TSC1 NM_000368.4(TSC1): c.1884_1887AAAG[1] (p.Lys630fs) short repeat Pathogenic 9:135781074-135781077 9:132905687-132905690
24 TSC1 NM_000368.4(TSC1): c.749T> A (p.Leu250Ter) single nucleotide variant Pathogenic rs118203447 9:135787833-135787833 9:132912446-132912446
25 TSC1 NM_000368.4(TSC1): c.1902_1903CA[1] (p.Thr635fs) short repeat Pathogenic rs118203597 9:135781060-135781061 9:132905673-132905674
26 TSC1 NM_000368.4(TSC1): c.671T> G (p.Met224Arg) single nucleotide variant Pathogenic rs118203426 9:135796816-135796816 9:132921429-132921429
27 TSC1 NM_000368.4(TSC1): c.539T> C (p.Leu180Pro) single nucleotide variant Pathogenic rs118203396 9:135797330-135797330 9:132921943-132921943
28 TSC2 NM_000548.5(TSC2): c.4642del (p.Leu1548fs) deletion Pathogenic rs137854083 16:2135303-2135303 16:2085302-2085302
29 TSC2 NM_000548.5(TSC2): c.5024C> T (p.Pro1675Leu) single nucleotide variant Pathogenic rs45483392 16:2137898-2137898 16:2087897-2087897
30 TSC2 NM_000548.5(TSC2): c.34A> T (p.Lys12Ter) single nucleotide variant Pathogenic rs45512692 16:2098650-2098650 16:2048649-2048649
31 TSC2 NM_000548.5(TSC2): c.2056_2059dup (p.Ser687fs) duplication Pathogenic rs137854337 16:2121894-2121897 16:2071893-2071896
32 TSC2 NM_000548.5(TSC2): c.1513C> T (p.Arg505Ter) single nucleotide variant Pathogenic rs45517179 16:2114342-2114342 16:2064341-2064341
33 TSC2 NM_000548.5(TSC2): c.1832G> A (p.Arg611Gln) single nucleotide variant Pathogenic rs28934872 16:2120572-2120572 16:2070571-2070571
34 TSC2 NM_000548.5(TSC2): c.2150T> G (p.Leu717Arg) single nucleotide variant Pathogenic rs45517214 16:2122294-2122294 16:2072293-2072293
35 TSC2 NM_000548.5(TSC2): c.1432C> T (p.Gln478Ter) single nucleotide variant Pathogenic rs121964862 16:2113043-2113043 16:2063042-2063042
36 TSC2 NM_000548.5(TSC2): c.1096G> T (p.Glu366Ter) single nucleotide variant Pathogenic rs45517148 16:2110791-2110791 16:2060790-2060790
37 TSC2 NM_000548.5(TSC2): c.5238_5255del (p.His1746_Arg1751del) deletion Pathogenic rs137854218 16:2138305-2138322 16:2088304-2088321
38 TSC2 NM_000548.5(TSC2): c.2714G> A (p.Arg905Gln) single nucleotide variant Pathogenic rs45517259 16:2126143-2126143 16:2076142-2076142
39 TSC2 NM_000548.5(TSC2): c.2713C> T (p.Arg905Trp) single nucleotide variant Pathogenic rs45517258 16:2126142-2126142 16:2076141-2076141
40 TSC2 NM_000548.5(TSC2): c.2713C> G (p.Arg905Gly) single nucleotide variant Pathogenic rs45517258 16:2126142-2126142 16:2076141-2076141
41 TSC2 NM_000548.5(TSC2): c.2355+2_2355+5del deletion Pathogenic rs137854250 16:2122986-2122989 16:2072985-2072988
42 TSC2 NM_000548.5(TSC2): c.1322G> A (p.Trp441Ter) single nucleotide variant Pathogenic rs45515894 16:2112562-2112562 16:2062561-2062561
43 TSC1 NM_000368.4(TSC1): c.491G> A (p.Trp164Ter) single nucleotide variant Pathogenic rs118203387 9:135798752-135798752 9:132923365-132923365
44 TSC1 NM_000368.4(TSC1): c.445C> T (p.Gln149Ter) single nucleotide variant Pathogenic rs118203384 9:135798798-135798798 9:132923411-132923411
45 TSC1 NM_000368.4(TSC1): c.395_406delinsCA (p.Gly132fs) indel Pathogenic rs118203380 9:135798837-135798848 9:132923450-132923461
46 TSC1 NM_000368.4(TSC1): c.2806C> T (p.Gln936Ter) single nucleotide variant Pathogenic rs118203735 9:135772817-135772817 9:132897430-132897430
47 TSC2 NM_000548.5(TSC2): c.3094C> T (p.Arg1032Ter) single nucleotide variant Pathogenic rs45465195 16:2129160-2129160 16:2079159-2079159
48 TSC2 NM_000548.5(TSC2): c.3131+1G> A single nucleotide variant Pathogenic rs45506401 16:2129198-2129198 16:2079197-2079197
49 TSC2 NM_000548.5(TSC2): c.3204_3205TG[1] (p.Val1069fs) short repeat Pathogenic rs137854076 16:2129351-2129352 16:2079350-2079351
50 TSC2 NM_000548.5(TSC2): c.3310_3311del (p.Gln1104fs) deletion Pathogenic rs137854018 16:2129583-2129584 16:2079582-2079583

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

74
# Symbol AA change Variation ID SNP ID
1 TSC1 p.Leu191His VAR_009399 rs118203403
2 TSC1 p.Met224Arg VAR_009401 rs118203426
3 TSC1 p.Gln654Glu VAR_009407 rs75820036
4 TSC1 p.Ala726Glu VAR_009408 rs118203655
5 TSC1 p.Thr899Ser VAR_009412 rs76801599
6 TSC1 p.Leu72Pro VAR_054387 rs118203354
7 TSC1 p.Arg500Gln VAR_054391 rs118203538
8 TSC1 p.Leu117Pro VAR_070637 rs118203368
9 TSC1 p.Leu180Pro VAR_070643 rs118203396

Expression for Tuberous Sclerosis 1

Search GEO for disease gene expression data for Tuberous Sclerosis 1.

Pathways for Tuberous Sclerosis 1

Pathways related to Tuberous Sclerosis 1 according to KEGG:

37
# Name Kegg Source Accession
1 p53 signaling pathway hsa04115
2 mTOR signaling pathway hsa04150
3 Insulin signaling pathway hsa04910

Pathways related to Tuberous Sclerosis 1 according to GeneCards Suite gene sharing:

(show all 44)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 TSC2 TSC1 RPTOR RHEB MTOR COL5A1
2
Show member pathways
13.42 TSC2 TSC1 RPTOR RPS6KB2 RHEB MTOR
3
Show member pathways
13.01 TSC2 TSC1 RPTOR RHEB MTOR
4
Show member pathways
12.93 TSC2 TSC1 RPTOR RHEB MTOR
5
Show member pathways
12.91 TSC2 TSC1 RPTOR RPS6KB2 RHEB MTOR
6
Show member pathways
12.85 TSC2 TSC1 RPTOR RHEB MTOR
7
Show member pathways
12.84 TSC2 TSC1 RPS6KB2 RHEB MTOR
8
Show member pathways
12.83 TSC2 TSC1 RPTOR RPS6KB2 RHEB MTOR
9
Show member pathways
12.73 TSC2 RPS6KB2 RHEB MTOR
10
Show member pathways
12.57 TSC2 TSC1 RPS6KB2 MTOR
11
Show member pathways
12.56 TSC2 RPS6KB2 RHEB MTOR
12
Show member pathways
12.47 TSC2 TSC1 RPTOR RPS6KB2 RHEB MTOR
13
Show member pathways
12.44 TSC2 TSC1 RPTOR RPS6KB2 RHEB MTOR
14
Show member pathways
12.36 TSC2 TSC1 RPTOR RHEB MTOR
15
Show member pathways
12.35 TSC2 TSC1 RPS6KB2 RHEB MTOR
16
Show member pathways
12.32 TSC2 TSC1 RHEB MTOR
17
Show member pathways
12.29 TSC2 TSC1 RPTOR RPS6KB2 RHEB MTOR
18
Show member pathways
12.23 TSC2 TSC1 RPS6KB2 MTOR
19 12.23 TSC2 TSC1 RPTOR RPS6KB2 MTOR
20
Show member pathways
12.15 TSC2 TSC1 RPTOR MTOR
21 12.12 TSC2 TSC1 RHEB MTOR
22
Show member pathways
12.12 TSC2 TSC1 RPTOR RPS6KB2 RHEB MTOR
23
Show member pathways
12.11 TSC2 TSC1 RPTOR RHEB MTOR
24 12.09 TSC2 TSC1 RHEB MTOR
25
Show member pathways
12 TSC2 RHEB MTOR
26
Show member pathways
11.98 TSC2 RPS6KB2 RHEB MTOR
27 11.91 TSC2 RHEB MTOR
28 11.89 TSC2 TSC1 RPTOR RPS6KB2 RHEB MTOR
29 11.88 TSC2 TSC1 MTOR
30 11.84 TSC2 TSC1 RPS6KB2 RHEB
31
Show member pathways
11.75 TSC2 RPS6KB2 MTOR
32 11.65 TSC2 TSC1 RPTOR RHEB MTOR
33
Show member pathways
11.61 TSC2 TSC1 RPTOR RPS6KB2 RHEB MTOR
34 11.53 TSC2 TSC1 MTOR
35 11.45 TSC2 TSC1 RPTOR MTOR
36 11.33 TSC2 TSC1 RPTOR RHEB MTOR
37 11.3 TSC2 TSC1 RHEB MTOR
38
Show member pathways
11.28 RPTOR MTOR
39 11.25 RPTOR MTOR
40 11.24 TSC2 TSC1 RPTOR RPS6KB2 RHEB MTOR
41 11.21 TSC2 RPTOR RHEB MTOR
42 11.1 TSC2 RPS6KB2 RHEB MTOR
43 10.93 TSC1 MTOR
44 10.84 RPTOR MTOR

GO Terms for Tuberous Sclerosis 1

Cellular components related to Tuberous Sclerosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.85 TSC2 TSC1 SP7 RPTOR RPS6KB2 RHEB
2 TORC1 complex GO:0031931 8.96 RPTOR MTOR
3 TSC1-TSC2 complex GO:0033596 8.62 TSC2 TSC1

Biological processes related to Tuberous Sclerosis 1 according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cell cycle arrest GO:0007050 9.69 RPTOR RHEB MTOR
2 regulation of cellular response to heat GO:1900034 9.59 RPTOR MTOR
3 protein kinase B signaling GO:0043491 9.58 TSC2 RPS6KB2
4 negative regulation of TOR signaling GO:0032007 9.58 TSC2 TSC1
5 negative regulation of insulin receptor signaling pathway GO:0046627 9.57 TSC2 TSC1
6 positive regulation of TOR signaling GO:0032008 9.56 RPTOR RHEB
7 positive regulation of macroautophagy GO:0016239 9.55 TSC2 TSC1
8 regulation of protein kinase activity GO:0045859 9.54 TSC1 MTOR
9 regulation of cell size GO:0008361 9.52 RPTOR MTOR
10 positive regulation of oligodendrocyte differentiation GO:0048714 9.49 RHEB MTOR
11 TOR signaling GO:0031929 9.48 RPTOR MTOR
12 negative regulation of macroautophagy GO:0016242 9.46 TSC1 MTOR
13 cellular response to nutrient levels GO:0031669 9.43 RPTOR MTOR
14 positive regulation of transcription by RNA polymerase III GO:0045945 9.4 RPTOR MTOR
15 anoikis GO:0043276 9.37 TSC2 MTOR
16 negative regulation of cell size GO:0045792 9.32 TSC1 MTOR
17 cellular response to leucine GO:0071233 9.26 RPTOR MTOR
18 TORC1 signaling GO:0038202 9.16 RPTOR MTOR
19 positive regulation of endothelial cell proliferation GO:0001938 9.13 RPTOR MTOR CCL26
20 regulation of macroautophagy GO:0016241 8.8 RPTOR RHEB MTOR

Molecular functions related to Tuberous Sclerosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Hsp90 protein binding GO:0051879 9.37 TSC2 TSC1
2 phosphoprotein binding GO:0051219 9.32 MTOR MID1
3 RNA polymerase III type 3 promoter DNA binding GO:0001032 9.26 RPTOR MTOR
4 TFIIIC-class transcription factor complex binding GO:0001156 9.16 RPTOR MTOR
5 RNA polymerase III type 2 promoter DNA binding GO:0001031 8.96 RPTOR MTOR
6 RNA polymerase III type 1 promoter DNA binding GO:0001030 8.62 RPTOR MTOR

Sources for Tuberous Sclerosis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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