TSC1
MCID: TBR025
MIFTS: 74

Tuberous Sclerosis 1 (TSC1)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Tuberous Sclerosis 1

MalaCards integrated aliases for Tuberous Sclerosis 1:

Name: Tuberous Sclerosis 1 57 11 73 28 5 43 71
Tuberous Sclerosis Complex 57 24 19 42 58 75 73
Tuberous Sclerosis 19 58 73 71
Bourneville Syndrome 19 58 73
Tsc1 57 73 75
Tuberous Sclerosis-1 57 12
Bourneville Disease 24 42
Tuberose Sclerosis 57 42
Ts 57 73
Tuberous Sclerosis, Type 1 75
Bourneville Phakomatosis 42
Cerebral Sclerosis 42
Sclerosis Tuberosa 42
Tsc 57

Characteristics:


Inheritance:

Tuberous Sclerosis 1: Autosomal dominant 57
Tuberous Sclerosis Complex: Autosomal dominant 58

Prevelance:

Tuberous Sclerosis Complex: 1-9/100000 58

Age Of Onset:

Tuberous Sclerosis Complex: All ages 58

OMIM®:

57 (Updated 08-Dec-2022)
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


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:

Orphanet: 58  
Rare neurological diseases
Rare circulatory system diseases
Rare renal diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Tuberous Sclerosis 1

MedlinePlus Genetics: 42 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 brain, kidneys, heart, skin, 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.Tuberous sclerosis complex often affects the brain, with some affected individuals having benign growths in the outer surface of the brain (cerebral cortex) known as cortical tubers. Individuals with tuberous sclerosis complex often develop a pattern of behaviors called TSC-associated neuropsychiatric disorders (TAND). These disorders include hyperactivity, aggression, psychiatric conditions, intellectual disability, and problems with communication and social interaction (autism spectrum disorder). Additionally, individuals with tuberous sclerosis complex may have attention-deficit/hyperactivity disorder (ADHD) or seizures.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 (cardiac rhabdomyoma) and the light-sensitive tissue at the back of the eye (the retina). Some women with tuberous sclerosis complex develop lymphangioleiomyomatosis (LAM), which is a lung disease characterized by the abnormal overgrowth of smooth muscle-like tissue in the lungs that causes coughing, shortness of breath, chest pain, and lung collapse.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. Sometimes, affected individuals have areas of bone or dental damage.

MalaCards based summary: Tuberous Sclerosis 1, also known as tuberous sclerosis complex, is related to tuberous sclerosis 2 and lymphangioleiomyomatosis, and has symptoms including tremor, back pain and headache. An important gene associated with Tuberous Sclerosis 1 is TSC1 (TSC Complex Subunit 1), and among its related pathways/superpathways are Translational Control and Development IGF-1 receptor signaling. The drugs Doxycycline and Cannabidiol have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and kidney, and related phenotypes are generalized abnormality of skin and hypomelanotic macule

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) (Updated 08-Dec-2022)

GARD: 19 Tuberous sclerosis complex (TSC) is characterized by the growth of benign tumors throughout the body, including in the heart, brain, and kidneys. Certain symptoms develop before to birth, such as heart tumors (rhabdomyoma). Other symptoms become more obvious in childhood, such as developmental delay and skin changes. Lung and kidney tumors are more likely to develop in adulthood. TSC is caused by the TSC1 or TSC2 gene not working correctly. It is inherited in an autosomal dominant pattern. This condition is diagnosed based on a clinical exam, medical tests such as imaging studies, and genetic testing.

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.

Orphanet: 58 A rare neurocutaneous disorder characterized by multisystem hamartomas, most commonly involving the skin, brain, kidneys, lungs, eye, and heart, and associated with neuropsychiatric disorders.

Disease Ontology: 11 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.

Wikipedia 75 Tsc1: Tuberous sclerosis 1 (TSC1), also known as hamartin, is a protein that in humans is encoded by the TSC1... more...

Tuberous sclerosis complex: 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 1019)
# Related Disease Score Top Affiliating Genes
1 tuberous sclerosis 2 31.8 TSC2 IFNG
2 lymphangioleiomyomatosis 31.7 TSC2 TSC1
3 peutz-jeghers syndrome 31.4 TSC2 TSC1
4 subependymal giant cell astrocytoma 31.4 TSC2 TSC1
5 kidney angiomyolipoma 31.4 TSC2 TSC1
6 polycystic kidney disease 1 with or without polycystic liver disease 31.4 TSC2 TSC1
7 ganglioglioma 31.4 TSC2 TSC1
8 tuberous sclerosis 31.3 TSC2 TSC1 CCL26
9 obstructive hydrocephalus 31.3 TSC2 TSC1
10 neurofibromatosis, type i 31.3 TSC2 TSC1
11 perivascular epithelioid cell tumor 31.2 TSC2 TSC1
12 kidney disease 31.2 TSC2 TSC1 IFNG
13 focal cortical dysplasia, type ii 31.2 TSC2 TSC1
14 hepatic angiomyolipoma 31.2 TSC2 TSC1
15 autism 31.2 TSC2 TSC1 IFNG
16 cowden syndrome 31.2 TSC2 TSC1
17 polycystic liver disease 1 with or without kidney cysts 31.1 TSC2 TSC1
18 birt-hogg-dube syndrome 31.1 TSC2 TSC1
19 multilocular clear cell renal cell carcinoma 31.1 TSC2 TSC1
20 liver lipoma 31.1 TSC2 TSC1
21 epithelioid type angiomyolipoma 31.1 TSC2 TSC1
22 cowden syndrome 1 31.1 TSC2 TSC1
23 uterus perivascular epithelioid cell tumor 31.1 TSC2 TSC1
24 inherited cancer-predisposing syndrome 31.1 TSC2 TSC1
25 angiolipoma 31.1 TSC2 TSC1
26 heart cancer 31.1 TSC2 TSC1
27 subependymal glioma 31.1 TSC2 TSC1
28 benign ependymoma 31.1 TSC2 TSC1
29 lung disease 31.1 TSC2 TSC1 IFNG
30 perivascular tumor 31.1 TSC2 TSC1
31 neurodegeneration with brain iron accumulation 31.1 TSC2 TSC1
32 kidney benign neoplasm 31.1 TSC2 TSC1
33 corneal dystrophy, fleck 31.1 TSC2 TSC1
34 connective tissue benign neoplasm 31.1 TSC2 TSC1
35 bap1 tumor predisposition syndrome 31.1 TSC2 TSC1
36 proteus syndrome 31.1 TSC2 TSC1
37 autism spectrum disorder 31.1 TSC2 TSC1 IFNG
38 low grade glioma 31.0 TSC2 TSC1
39 central nervous system benign neoplasm 31.0 TSC2 TSC1
40 spinal cord disease 31.0 TSC2 TSC1
41 lymphoid interstitial pneumonia 31.0 TSC2 TSC1 IFNG
42 angiomyolipoma 31.0 TSC2 TSC1 CCL26
43 pervasive developmental disorder 30.9 TSC2 TSC1
44 polycystic kidney disease 30.9 TSC2 TSC1 CCL26
45 cystic kidney disease 30.9 TSC2 TSC1 CCL26
46 hemangioma 30.9 TSC2 TSC1
47 autosomal dominant polycystic kidney disease 30.8 TSC2 TSC1
48 congenital heart defects, hamartomas of tongue, and polysyndactyly 30.8 TSC2 TSC1 CCL26
49 hypereosinophilic syndrome 29.5 IFNG CCL26
50 contact dermatitis 29.3 IFNG CCL26

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:

58 30 (show top 50) (show all 80)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized abnormality of skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011354
2 hypomelanotic macule 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009719
3 cortical dysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002539
4 subependymal nodules 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009716
5 cortical tubers 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009717
6 intellectual disability 58 30 Very rare (1%) Frequent (79-30%)
HP:0001249
7 sleep disturbance 58 30 Frequent (33%) Frequent (79-30%)
HP:0002360
8 depression 58 30 Frequent (33%) Frequent (79-30%)
HP:0000716
9 self-injurious behavior 58 30 Frequent (33%) Frequent (79-30%)
HP:0100716
10 autism 58 30 Very rare (1%) Frequent (79-30%)
HP:0000717
11 specific learning disability 58 30 Frequent (33%) Frequent (79-30%)
HP:0001328
12 neurodevelopmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0012758
13 abnormal social behavior 58 30 Frequent (33%) Frequent (79-30%)
HP:0012433
14 infantile spasms 58 30 Very rare (1%) Frequent (79-30%)
HP:0012469
15 status epilepticus 58 30 Frequent (33%) Frequent (79-30%)
HP:0002133
16 aggressive behavior 58 30 Frequent (33%) Frequent (79-30%)
HP:0000718
17 focal-onset seizure 58 30 Frequent (33%) Frequent (79-30%)
HP:0007359
18 impulsivity 58 30 Frequent (33%) Frequent (79-30%)
HP:0100710
19 shagreen patch 58 30 Frequent (33%) Frequent (79-30%)
HP:0009721
20 skin plaque 58 30 Frequent (33%) Frequent (79-30%)
HP:0200035
21 pulmonary lymphangiomyomatosis 58 30 Very rare (1%) Frequent (79-30%)
HP:0012798
22 angiofibromas 58 30 Frequent (33%) Frequent (79-30%)
HP:0010615
23 confetti-like hypopigmented macules 58 30 Frequent (33%) Frequent (79-30%)
HP:0007449
24 chorioretinal hypopigmentation 58 30 Frequent (33%) Frequent (79-30%)
HP:0040030
25 repetitive compulsive behavior 58 30 Frequent (33%) Frequent (79-30%)
HP:0008762
26 cardiac rhabdomyoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0009729
27 hypertension 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000822
28 attention deficit hyperactivity disorder 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007018
29 anxiety 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000739
30 hemoptysis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002105
31 respiratory distress 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002098
32 noncommunicating hydrocephalus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010953
33 respiratory tract infection 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011947
34 ungual fibroma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100804
35 poor speech 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002465
36 epidermoid cyst 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0200040
37 renal angiomyolipoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006772
38 hepatic cysts 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001407
39 subependymal giant-cell astrocytoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009718
40 polycystic kidney dysplasia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000113
41 internal hemorrhage 58 30 Very rare (1%) Very rare (<4-1%)
HP:0011029
42 pheochromocytoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002666
43 renal cell carcinoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0005584
44 respiratory failure 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002878
45 aortic aneurysm 58 30 Very rare (1%) Very rare (<4-1%)
HP:0004942
46 stage 5 chronic kidney disease 58 30 Very rare (1%) Very rare (<4-1%)
HP:0003774
47 parathyroid adenoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002897
48 pancreatic endocrine tumor 58 30 Very rare (1%) Very rare (<4-1%)
HP:0030405
49 pituitary adenoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002893
50 carcinoid tumor 58 30 Very rare (1%) Very rare (<4-1%)
HP:0100570

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
loss of heterozygosity in giant cell astrocytomas, angiomyolipomas, rhabdomyomas

Clinical features from OMIM®:

191100 (Updated 08-Dec-2022)

UMLS symptoms related to Tuberous Sclerosis 1:


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

MGI Mouse Phenotypes related to Tuberous Sclerosis 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.8 IFNG TSC1 TSC2

Drugs & Therapeutics for Tuberous Sclerosis 1

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

(show top 50) (show all 80)
# 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 Anticonvulsants Phase 4
10 Neurotransmitter Agents Phase 4
11
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
12
Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
13
Prednisolone Approved, Vet_approved Phase 3 50-24-8 4894 5755
14
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5 1875
15
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 4159 6741
16
Ethanol Approved Phase 3 64-17-5 702
17 Strawberry Approved Phase 3
18
Carbamazepine Approved, Investigational Phase 3 298-46-4 2554
19
Phenytoin Approved, Vet_approved Phase 3 57-41-0 1775
20
Phenobarbital Approved, Investigational Phase 3 50-06-6 4763
21
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
22
Clonazepam Approved, Illicit Phase 3 1622-61-3 2802
23
Clobazam Approved, Illicit Phase 3 22316-47-8 2789
24
Topiramate Approved Phase 3 97240-79-4 5284627
25
Ganaxolone Approved, Investigational Phase 3 38398-32-2 22023730 6918305
26
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 5280453
27
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7 4897
28
Methylprednisolone Acetate Phase 3 584547
29 Vitamins Phase 3
30 Hormones Phase 3
31 Trace Elements Phase 3
32 Vasoconstrictor Agents Phase 3
33 Calcium, Dietary Phase 3
34 Micronutrients Phase 3
35 Neurosteroids Phase 3
36 GABA Modulators Phase 3
37
Calcium Nutraceutical Phase 3 7440-70-2 271
38
Acetylsalicylic acid Approved, Vet_approved Phase 2 50-78-2 2244
39
Simvastatin Approved Phase 1, Phase 2 79902-63-9 54454
40
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
41
Tannic acid Approved Phase 2 1401-55-4 16129878 16129778
42
Propranolol Approved, Investigational Phase 2 318-98-9, 525-66-6 62882 4946
43
Coal tar Approved Phase 1, Phase 2 8007-45-2
44 Analgesics Phase 2
45 Antirheumatic Agents Phase 2
46 Fibrinolytic Agents Phase 2
47 Antipyretics Phase 2
48 Cyclooxygenase Inhibitors Phase 2
49 Platelet Aggregation Inhibitors Phase 2
50 Anti-Inflammatory Agents, Non-Steroidal Phase 2

Interventional clinical trials:

(show top 50) (show all 88)
# 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 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 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 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
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 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
14 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
15 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
16 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
17 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
18 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
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 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
22 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
23 Efficacy and Safety Study of Vatiquinone for the Treatment of Mitochondrial Disease Subjects With Refractory Epilepsy Active, not recruiting NCT04378075 Phase 2, Phase 3 Vatiquinone
24 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
25 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
26 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
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 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
29 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)
30 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
31 Rapalogues for Autism Phenotype in TSC: A Feasibility Study Completed NCT01929642 Phase 2 Sirolimus;Everolimus
32 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
33 Everolimus (RAD001) Therapy for Epilepsy in Patients With Tuberous Sclerosis Complex Completed NCT01070316 Phase 1, Phase 2 Everolimus
34 Randomized Double-Blind Phase 2 Trial Of RAD001 For Neurocognition In Individuals With Tuberous Sclerosis Complex Completed NCT01289912 Phase 2 RAD001;Placebo
35 A Phase II Trial of Everolimus for Cancer Patients With Inactivating Mutations in TSC1 or TSC2 or Activating MTOR Mutations Completed NCT02201212 Phase 2 Everolimus
36 Rapamycin Therapy of Angiomyolipomas in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457808 Phase 2 Rapamycin, sirolimus
37 RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457964 Phase 1, Phase 2 RAD001
38 Everolimus (RAD001)Therapy of Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex Completed NCT00411619 Phase 1, Phase 2 Everolimus
39 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)
40 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
41 Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers: Pilot Trial Completed NCT02104011 Phase 2 Propranolol
42 A Phase II Multi-Center Study of Rapamycin for Treating Kidney Angiomyolipomas in TSC or LAM Patients Completed NCT00126672 Phase 2 Rapamycin
43 Phase II Study of Topical Rapamycin to Erase Angiofibromas in TSC-Multicenter Evaluation of a Novel Therapy Completed NCT01526356 Phase 2 Placebo;Rapamycin
44 Phase II Study of Everolimus in Patients With Advanced Solid Malignancies With TSC1, TSC2, NF1, NF2, or STK11 Mutations Completed NCT02352844 Phase 2 Everolimus
45 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
46 Stopping TSC Onset and Progression 2B: Sirolimus TSC Epilepsy Prevention Study Recruiting NCT05104983 Phase 2 Sirolimus;Placebo
47 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
48 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
49 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
50 Stopping TSC Onset and Progression 2: Epilepsy Prevention in TSC Infants Active, not recruiting NCT04595513 Phase 1, Phase 2 TAVT-18 (sirolimus)

Search NIH Clinical Center for Tuberous Sclerosis 1

Cochrane evidence based reviews: tuberous sclerosis 1

Genetic Tests for Tuberous Sclerosis 1

Genetic tests related to Tuberous Sclerosis 1:

# Genetic test Affiliating Genes
1 Tuberous Sclerosis 1 28 TSC1

Anatomical Context for Tuberous Sclerosis 1

Organs/tissues related to Tuberous Sclerosis 1:

MalaCards : Skin, Brain, Kidney, Lung, Heart, Smooth Muscle, Cortex
ODiseA: Brain, Heart-Atrium, Heart-Ventricle, Heart, Respiratory System-Lung, Respiratory System, Skin, Kidney

Publications for Tuberous Sclerosis 1

Articles related to Tuberous Sclerosis 1:

(show top 50) (show all 9690)
# Title Authors PMID Year
1
TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex. 62 24 57 5
19419980 2009
2
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. 62 24 57 5
17304050 2007
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 24 57 5
15798777 2005
4
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. 62 24 57 5
11112665 2001
5
Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations. 62 57 5
18032745 2008
6
Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis. 62 57 5
9863590 1998
7
Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance. 62 57 5
9924605 1998
8
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. 62 57 5
9242607 1997
9
Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. 62 24 5
26540169 2015
10
Neuropsychological attention deficits in tuberous sclerosis complex (TSC). 62 24 57
19215038 2009
11
Missense mutations to the TSC1 gene cause tuberous sclerosis complex. 62 24 5
18830229 2009
12
Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. 62 24 5
17287951 2007
13
The tuberous sclerosis complex. 62 24 57
17005952 2006
14
Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations. 62 24 5
16114042 2005
15
The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis. 62 24 5
11208653 2001
16
Germ-line mosaicism in tuberous sclerosis: how common? 62 24 5
10090883 1999
17
Non-penetrance in tuberous sclerosis. 62 24 57
1870099 1991
18
Genetic aspects of tuberous sclerosis in the west of Scotland. 62 24 57
2918523 1989
19
Genotype and Phenotype Analysis of Chinese Children With Tuberous Sclerosis Complex: A Pediatric Cohort Study. 62 5
32211034 2020
20
Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family. 62 5
30794603 2019
21
A family case with germline TSC1 and mtDNA mutations developing bilateral eosinophilic chromophobe renal cell carcinomas without other typical phenotype of tuberous sclerosis. 62 5
29960980 2018
22
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2. 62 5
29432982 2018
23
Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the TSC1 and TSC2 genes. 62 5
29932062 2018
24
Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece. 62 5
29196670 2017
25
A Tuberous Sclerosis Family with TSC1 (c.1030-1G>A) Mutation Found through a Female Presenting as Multiple Ground Glass Nodules in Chest Computed Tomography Incidentally. 62 5
29052576 2017
26
Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex. 62 5
27859028 2017
27
Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China. 62 5
28065512 2017
28
Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis. 62 5
28968464 2017
29
Hamartomatous polyposis in tuberous sclerosis complex: Case report and review of the literature. 62 5
26493680 2015
30
Hemispherectomy for Hemimegalencephaly Due to Tuberous Sclerosis and a Review of the Literature. 62 5
26231267 2015
31
TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex. 62 5
25900779 2015
32
Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex. 62 57
25288394 2014
33
Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex. 62 5
24271014 2014
34
Monoallelic germline TSC1 mutations are permissive for T lymphocyte development and homeostasis in tuberous sclerosis complex individuals. 62 5
24633152 2014
35
Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported. 62 5
23389244 2013
36
Molecular genetic, cardiac and neurodevelopmental findings in cases of prenatally diagnosed rhabdomyoma associated with tuberous sclerosis complex. 62 5
22791573 2013
37
Leydig cell tumor of the testis in tuberous sclerosis: lack of second hit events. 62 5
22707517 2012
38
[Mutation screening and prenatal diagnosis of tuberous sclerosis complex]. 62 5
21811971 2011
39
Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population. 62 57
21266383 2011
40
High-resolution melting analysis is a more effective approach for screening TSC genes mutations. 62 5
21510812 2011
41
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. 62 5
21309039 2011
42
Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients. 62 5
20877415 2011
43
Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events. 62 5
20633017 2010
44
Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction. 62 5
20547222 2010
45
Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex. 62 57
19332694 2009
46
Tuberous sclerosis. 62 57
18722871 2008
47
Novel mutations in 21 patients with tuberous sclerosis complex and variation of tandem splice-acceptor sites in TSC1 exon 14. 62 5
18772611 2008
48
Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex. 62 57
18389497 2008
49
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex. 62 5
16981987 2006
50
TSC1, TSC2, TSC3? Or mosaicism? 62 57
15912141 2005

Variations for Tuberous Sclerosis 1

ClinVar genetic disease variations for Tuberous Sclerosis 1:

5 (show top 50) (show all 2770)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TSC1 NM_000368.5(TSC1):c.539T>C (p.Leu180Pro) SNV Pathogenic
5105 rs118203396 GRCh37: 9:135797330-135797330
GRCh38: 9:132921943-132921943
2 TSC1 NM_000368.5(TSC1):c.2515_2518del (p.Glu839fs) DEL Pathogenic
195458 rs794727320 GRCh37: 9:135776209-135776212
GRCh38: 9:132900822-132900825
3 TSC1 NM_000368.5(TSC1):c.901_902del (p.Gln301fs) MICROSAT Pathogenic
49120 rs118203464 GRCh37: 9:135787680-135787681
GRCh38: 9:132912293-132912294
4 TSC1 NM_000368.5(TSC1):c.2041+1G>A SNV Pathogenic
64792 rs397514842 GRCh37: 9:135779797-135779797
GRCh38: 9:132904410-132904410
5 TSC1 NM_000368.5(TSC1):c.1580_1581del (p.Gln527fs) DEL Pathogenic
48805 rs118203550 GRCh37: 9:135781384-135781385
GRCh38: 9:132905997-132905998
6 TSC1 NM_000368.5(TSC1):c.1257del (p.Arg420fs) DEL Pathogenic
48753 rs118203506 GRCh37: 9:135785964-135785964
GRCh38: 9:132910577-132910577
7 TSC1 NM_000368.5(TSC1):c.2675_2676del (p.Arg892fs) DEL Pathogenic
217251 rs118203726 GRCh37: 9:135772947-135772948
GRCh38: 9:132897560-132897561
8 TSC1 NM_000368.5(TSC1):c.989_990del (p.Leu330fs) DEL Pathogenic
49134 rs118203479 GRCh37: 9:135786879-135786880
GRCh38: 9:132911492-132911493
9 TSC1 NM_000368.5(TSC1):c.866C>G (p.Ser289Ter) SNV Pathogenic
64822 rs397514867 GRCh37: 9:135787716-135787716
GRCh38: 9:132912329-132912329
10 TSC1 NM_000368.5(TSC1):c.664-1G>C SNV Pathogenic
49081 rs118203423 GRCh37: 9:135796824-135796824
GRCh38: 9:132921437-132921437
11 TSC1 NM_000368.5(TSC1):c.1431_1434del (p.Glu478fs) DEL Pathogenic
48779 rs118203527 GRCh37: 9:135782122-135782125
GRCh38: 9:132906735-132906738
12 TSC1 NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs) DEL Pathogenic
48971 rs118203707 GRCh37: 9:135776215-135776218
GRCh38: 9:132900828-132900831
13 TSC1 NM_000368.5(TSC1):c.682C>T (p.Arg228Ter) SNV Pathogenic
Pathogenic
49083 rs118203427 GRCh37: 9:135796805-135796805
GRCh38: 9:132921418-132921418
14 TSC1 NM_000368.5(TSC1):c.211-2A>C SNV Pathogenic
48903 rs118203352 GRCh37: 9:135801128-135801128
GRCh38: 9:132925741-132925741
15 TSC1 NM_000368.5(TSC1):c.2672del (p.Asn891fs) DEL Pathogenic
64834 rs118203724 GRCh37: 9:135772951-135772951
GRCh38: 9:132897564-132897564
16 TSC1 NM_000368.5(TSC1):c.1959dup (p.Gln654fs) DUP Pathogenic
48857 rs118203603 GRCh37: 9:135781005-135781006
GRCh38: 9:132905618-132905619
17 TSC1 NM_000368.5(TSC1):c.271_272del (p.Ser91fs) MICROSAT Pathogenic
48996 rs118203360 GRCh37: 9:135801065-135801066
GRCh38: 9:132925678-132925679
18 TSC1 NM_000368.5(TSC1):c.973C>T (p.Gln325Ter) SNV Pathogenic
49130 rs118203474 GRCh37: 9:135786896-135786896
GRCh38: 9:132911509-132911509
19 TSC1 NM_000368.5(TSC1):c.1530_1531del (p.Asp510fs) DEL Pathogenic
237701 rs118203544 GRCh37: 9:135781434-135781435
GRCh38: 9:132906047-132906048
20 TSC1 NM_000368.5(TSC1):c.1998-1G>T SNV Pathogenic
237706 rs118203614 GRCh37: 9:135779842-135779842
GRCh38: 9:132904455-132904455
21 TSC1 NM_000368.5(TSC1):c.749T>A (p.Leu250Ter) SNV Pathogenic
5098 rs118203447 GRCh37: 9:135787833-135787833
GRCh38: 9:132912446-132912446
22 TSC1 NM_000368.5(TSC1):c.1680_1702del (p.Ser561fs) DEL Pathogenic
64763 rs118203557 GRCh37: 9:135781263-135781285
GRCh38: 9:132905876-132905898
23 overlap with 3 genes NC_000009.11:g.(135750586_135753559)_(135772997_135776102)del DEL Pathogenic
397550 GRCh37: 9:135750586-135776102
GRCh38: 9:132875199-132900715
24 TSC1 NM_000368.5(TSC1):c.395_406delinsCA (p.Gly132fs) INDEL Pathogenic
49039 rs118203380 GRCh37: 9:135798837-135798848
GRCh38: 9:132923450-132923461
25 TSC1 NM_000368.5(TSC1):c.2165del (p.Lys722fs) DEL Pathogenic
411255 rs1060503213 GRCh37: 9:135779081-135779081
GRCh38: 9:132903694-132903694
26 TSC1 NM_000368.5(TSC1):c.2111_2112del (p.Leu703_Tyr704insTer) DEL Pathogenic
48905 rs118203645 GRCh37: 9:135779134-135779135
GRCh38: 9:132903747-132903748
27 TSC1 NM_000368.5(TSC1):c.1388dup (p.Leu463fs) DUP Pathogenic
466027 rs1064796237 GRCh37: 9:135782167-135782168
GRCh38: 9:132906780-132906781
28 TSC1 NM_000368.5(TSC1):c.850dup (p.Arg284fs) DUP Pathogenic
466159 rs1554817612 GRCh37: 9:135787731-135787732
GRCh38: 9:132912344-132912345
29 TSC1 NM_000368.5(TSC1):c.24_42delinsCAA (p.Glu9fs) INDEL Pathogenic
466078 rs1554821022 GRCh37: 9:135804218-135804236
GRCh38: 9:132928831-132928849
30 TSC1 NM_000368.5(TSC1):c.2177_2180dup (p.Ala728fs) DUP Pathogenic
466063 rs1554815246 GRCh37: 9:135779065-135779066
GRCh38: 9:132903678-132903679
31 TSC1 NM_000368.5(TSC1):c.2510dup (p.Asn837fs) DUP Pathogenic
48973 rs118203709 GRCh37: 9:135776216-135776217
GRCh38: 9:132900829-132900830
32 TSC1 NM_000368.5(TSC1):c.825T>G (p.Tyr275Ter) SNV Pathogenic
49110 rs118203454 GRCh37: 9:135787757-135787757
GRCh38: 9:132912370-132912370
33 TSC1 NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter) SNV Pathogenic
64813 rs397514862 GRCh37: 9:135777994-135777994
GRCh38: 9:132902607-132902607
34 TSC1 NM_000368.5(TSC1):c.445C>T (p.Gln149Ter) SNV Pathogenic
49043 rs118203384 GRCh37: 9:135798798-135798798
GRCh38: 9:132923411-132923411
35 TSC1 NM_000368.5(TSC1):c.2231_2235del (p.Glu744fs) DEL Pathogenic
466069 rs1554815049 GRCh37: 9:135778148-135778152
GRCh38: 9:132902761-132902765
36 TSC1 NM_000368.5(TSC1):c.1987G>T (p.Glu663Ter) SNV Pathogenic
280309 rs886041538 GRCh37: 9:135780978-135780978
GRCh38: 9:132905591-132905591
37 TSC1 NM_000368.5(TSC1):c.2027G>A (p.Trp676Ter) SNV Pathogenic
466057 rs1554815454 GRCh37: 9:135779812-135779812
GRCh38: 9:132904425-132904425
38 TSC1 NC_000009.12:g.(?_132910551)_(132912477_?)del DEL Pathogenic
466000 GRCh37: 9:135785938-135787864
GRCh38: 9:132910551-132912477
39 TSC1 NM_000368.5(TSC1):c.146del (p.Tyr49fs) DEL Pathogenic
64812 rs397514861 GRCh37: 9:135802652-135802652
GRCh38: 9:132927265-132927265
40 TSC1 NM_000368.5(TSC1):c.751G>T (p.Glu251Ter) SNV Pathogenic
534436 rs1554817691 GRCh37: 9:135787831-135787831
GRCh38: 9:132912444-132912444
41 TSC1 NM_000368.5(TSC1):c.1208C>A (p.Ser403Ter) SNV Pathogenic
534465 rs118203504 GRCh37: 9:135786013-135786013
GRCh38: 9:132910626-132910626
42 TSC1 NM_000368.5(TSC1):c.1130_1131del (p.Phe377fs) DEL Pathogenic
534421 rs1554817222 GRCh37: 9:135786399-135786400
GRCh38: 9:132911012-132911013
43 TSC1 NM_000368.5(TSC1):c.1301dup (p.Gln435fs) DUP Pathogenic
534420 rs1554816394 GRCh37: 9:135782719-135782720
GRCh38: 9:132907332-132907333
44 TSC1 NM_000368.5(TSC1):c.1758del (p.Pro585_Cys586insTer) DEL Pathogenic
534458 rs1554815856 GRCh37: 9:135781207-135781207
GRCh38: 9:132905820-132905820
45 TSC1 NM_000368.5(TSC1):c.1446_1447del (p.Ile482_Ser483insTer) MICROSAT Pathogenic
534409 rs1554816076 GRCh37: 9:135781518-135781519
GRCh38: 9:132906131-132906132
46 TSC1 NM_000368.5(TSC1):c.1073del (p.Pro358fs) DEL Pathogenic
534408 rs1554817259 GRCh37: 9:135786457-135786457
GRCh38: 9:132911070-132911070
47 TSC1 NM_000368.5(TSC1):c.1781del (p.Val594fs) DEL Pathogenic
466042 rs1554815829 GRCh37: 9:135781184-135781184
GRCh38: 9:132905797-132905797
48 TSC1 NM_000368.5(TSC1):c.2524C>T (p.Gln842Ter) SNV Pathogenic
466085 rs1447417010 GRCh37: 9:135776203-135776203
GRCh38: 9:132900816-132900816
49 TSC1 NM_000368.5(TSC1):c.2341_2360dup (p.Glu787fs) DUP Pathogenic
411223 rs1554814935 GRCh37: 9:135778022-135778023
GRCh38: 9:132902635-132902636
50 TSC1 NM_000368.5(TSC1):c.1518del (p.Tyr508fs) DEL Pathogenic
411251 rs1060503210 GRCh37: 9:135781447-135781447
GRCh38: 9:132906060-132906060

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

73
# 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

LifeMap Discovery
Genes differentially expressed in tissues of Tuberous Sclerosis 1 patients vs. healthy controls: 35 (show top 50) (show all 105)
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 SERPINA3 serpin family A member 3 Brain + 7.35 0.000
2 LTF lactotransferrin Brain + 7.00 0.000
3 XIST X inactive specific transcript Brain + 6.91 0.004
4 CD44 CD44 molecule (Indian blood group) Brain + 6.56 0.000
5 TNC tenascin C Brain + 6.23 0.000
6 CHI3L2 chitinase 3 like 2 Brain + 5.92 0.000
7 CP ceruloplasmin Brain + 5.74 0.000
8 PLA2G2A phospholipase A2 group IIA Brain + 5.47 0.000
9 APLNR apelin receptor Brain + 5.01 0.000
10 CFI complement factor I Brain + 4.89 0.000
11 CCL2 C-C motif chemokine ligand 2 Brain + 4.85 0.000
12 DDX3Y DEAD-box helicase 3 Y-linked Brain - 4.54 0.009
13 SLC1A2 solute carrier family 1 member 2 Brain - 4.38 0.000
14 WWTR1 WW domain containing transcription regulator 1 Brain + 4.34 0.000
15 RGS4 regulator of G protein signaling 4 Brain - 4.33 0.002
16 GALNT15 polypeptide N-acetylgalactosaminyltransferase 15 Brain + 4.33 0.000
17 SLC14A1 solute carrier family 14 member 1 (Kidd blood group) Brain + 4.31 0.000
18 ANGPT1 angiopoietin 1 Brain + 4.30 0.000
19 USP9Y ubiquitin specific peptidase 9 Y-linked Brain - 4.28 0.005
20 RPS4Y1 ribosomal protein S4 Y-linked 1 Brain - 4.26 0.015
21 AEBP1 AE binding protein 1 Brain + 4.26 0.000
22 COL1A1 collagen type I alpha 1 chain Brain + 4.19 0.000
23 AQP1 aquaporin 1 (Colton blood group) Brain + 4.00 0.000
24 C3 complement C3 Brain + 3.89 0.000
25 PRPH peripherin Brain + 3.85 0.000
26 ANXA1 annexin A1 Brain + 3.84 0.000
27 LUM lumican Brain + 3.79 0.008
28 CRYGS crystallin gamma S Brain + 3.78 0.000
29 EMP1 epithelial membrane protein 1 Brain + 3.77 0.000
30 PIRT phosphoinositide interacting regulator of transient receptor potential channels Brain + 3.75 0.000
31 ARRDC4 arrestin domain containing 4 Brain + 3.70 0.000
32 SYN2 synapsin II Brain - 3.69 0.000
33 ECM2 extracellular matrix protein 2 Brain + 3.69 0.000
34 GFAP glial fibrillary acidic protein Brain + 3.69 0.000
35 DNAJA4 DnaJ heat shock protein family (Hsp40) member A4 Brain - 3.66 0.000
36 GBP2 guanylate binding protein 2 Brain + 3.66 0.001
37 EIF1AY eukaryotic translation initiation factor 1A Y-linked Brain - 3.65 0.023
38 SYNJ1 synaptojanin 1 Brain - 3.64 0.000
39 PDE1A phosphodiesterase 1A Brain - 3.64 0.001
40 GJB6 gap junction protein beta 6 Brain - 3.63 0.015
41 SLC47A2 solute carrier family 47 member 2 Brain + 3.63 0.000
42 ATP6V1A ATPase H+ transporting V1 subunit A Brain - 3.62 0.001
43 NECAB1 N-terminal EF-hand calcium binding protein 1 Brain - 3.61 0.000
44 PLAAT4 phospholipase A and acyltransferase 4 Brain + 3.58 0.000
45 ARPP21 cAMP regulated phosphoprotein 21 Brain - 3.57 0.000
46 CHST6 carbohydrate sulfotransferase 6 Brain + 3.54 0.000
47 SCIN scinderin Brain + 3.54 0.001
48 RAB3C RAB3C, member RAS oncogene family Brain - 3.52 0.001
49 UNC13C unc-13 homolog C Brain - 3.52 0.001
50 CCDC80 coiled-coil domain containing 80 Brain + 3.49 0.000
Search GEO for disease gene expression data for Tuberous Sclerosis 1.

Pathways for Tuberous Sclerosis 1

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

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.89 TSC2 TSC1
2
Show member pathways
11.86 TSC2 TSC1
3
Show member pathways
11.81 TSC2 TSC1
4 11.75 TSC2 TSC1
5
Show member pathways
11.73 TSC2 TSC1
6 11.7 TSC2 TSC1
7
Show member pathways
11.67 TSC2 TSC1
8
Show member pathways
11.65 TSC2 TSC1
9
Show member pathways
11.62 TSC2 TSC1
10
Show member pathways
11.56 TSC2 TSC1
11 11.46 TSC1 TSC2
12 11.42 TSC2 TSC1
13 11.39 TSC2 TSC1
14 11.35 TSC2 TSC1
15 11.27 TSC2 TSC1
16 11.16 TSC2 TSC1
17
Show member pathways
11.1 TSC2 TSC1
18
Show member pathways
10.98 TSC2 TSC1 IFNG
19 10.94 TSC2 TSC1
20 10.72 TSC2 TSC1
21 10.3 TSC2 TSC1

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 TSC1-TSC2 complex GO:0033596 8.92 TSC2 TSC1

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

# Name GO ID Score Top Affiliating Genes
1 neural tube closure GO:0001843 9.46 TSC2 TSC1
2 positive regulation of macroautophagy GO:0016239 9.26 TSC1 TSC2
3 negative regulation of TOR signaling GO:0032007 8.92 TSC2 TSC1

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 8.92 TSC2 TSC1

Sources for Tuberous Sclerosis 1

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
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