TSC1
MCID: TBR025
MIFTS: 84

Tuberous Sclerosis 1 (TSC1)

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

Aliases & Classifications for Tuberous Sclerosis 1

MalaCards integrated aliases for Tuberous Sclerosis 1:

Name: Tuberous Sclerosis 1 57 12 72 29 6 15 70
Tuberous Sclerosis Complex 57 73 25 20 43 58 72 36
Tuberous Sclerosis 20 58 72 70
Bourneville Syndrome 20 58 72
Tuberous Sclerosis, Type 1 73 39
Tuberous Sclerosis-1 57 13
Bourneville Disease 25 43
Tuberose Sclerosis 57 43
Tsc1 57 72
Ts 57 72
Tuberous Sclerosis Complex; Tsc 57
Bourneville Phakomatosis 43
Tuberose Sclerosis; Ts 57
Cerebral Sclerosis 43
Sclerosis Tuberosa 43
Epiloia 43
Tsc 57

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 20-May-2021)
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:

31
tuberous sclerosis 1:
Inheritance autosomal dominant inheritance


GeneReviews:

25
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 : 43 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, resulting in 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). Some individuals with tuberous sclerosis complex have seizures or benign brain tumors that 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 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 cause coughing, shortness of breath, chest pain, and lung collapse.

MalaCards based summary : Tuberous Sclerosis 1, also known as tuberous sclerosis complex, is related to lymphangioleiomyomatosis and subependymal giant cell astrocytoma, 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 Miconazole and Clotrimazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and skin, and related phenotypes are generalized abnormality of skin and hypomelanotic macule

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.

GARD : 20 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. Treatment is based on managing the symptoms, and includes medications and surgery.

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 20-May-2021)

KEGG : 36 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 : 72 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 : 73 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 842)
# Related Disease Score Top Affiliating Genes
1 lymphangioleiomyomatosis 32.5 TSC2 TSC1 RPS6KB1 MTOR
2 subependymal giant cell astrocytoma 32.3 TSC2 TSC1 RHEB MTOR
3 focal cortical dysplasia, type ii 32.3 TSC2 TSC1 RHEB MTOR
4 hemimegalencephaly 32.3 TSC2 RHEB PTEN MTOR
5 angiomyolipoma 32.2 TSC2 TSC1 MTOR CCL26
6 congenital heart defects, hamartomas of tongue, and polysyndactyly 31.9 TSC2 TSC1 PTEN CCL26
7 peutz-jeghers syndrome 31.9 TSC2 TSC1 PTEN
8 aortic disease 31.8 TSC2 TSC1 RPS6KB1 CCL26
9 focal epilepsy 31.8 TSC2 TSC1 PTEN MTOR
10 kidney angiomyolipoma 31.8 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
11 heart cancer 31.7 TSC2 TSC1 MTOR
12 uterus perivascular epithelioid cell tumor 31.7 TSC2 TSC1 RPS6KB1
13 polycystic kidney disease 1 with or without polycystic liver disease 31.7 TSC2 TSC1 MTOR AKT1
14 perivascular tumor 31.7 TSC2 TSC1 MTOR
15 hemangioma 31.7 TSC2 TSC1 PTEN MTOR AKT1
16 corneal dystrophy, fleck 31.7 TSC2 TSC1 MTOR
17 neurofibromatosis, type i 31.7 TSC2 TSC1 PTEN MTOR AKT1
18 kidney benign neoplasm 31.6 TSC2 TSC1 RHEB MTOR
19 lissencephaly with cerebellar hypoplasia 31.6 TSC2 TSC1
20 spinal cord disease 31.6 TSC2 TSC1 RHEB MTOR
21 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 31.6 TSC1 PTEN AKT1
22 central nervous system benign neoplasm 31.5 TSC2 TSC1 RHEB PTEN MTOR
23 pervasive developmental disorder 31.4 TSC2 TSC1 PTEN MTOR EIF4E
24 tuberous sclerosis 31.4 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
25 fragile x syndrome 31.3 TSC2 TSC1 PTEN MTOR EIF4E AKT1
26 proteus syndrome 31.1 TSC2 TSC1 RHEB PTEN MTOR MLST8
27 cowden syndrome 1 31.0 TSC2 TSC1 RPS6KB1 RICTOR RHEB PTEN
28 cowden syndrome 30.8 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
29 disease of mental health 30.8 TSC2 TSC1 RPTOR RPS6KB1 RHEB PTEN
30 tuberous sclerosis 2 30.6 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
31 benign ependymoma 30.5 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
32 subependymal glioma 30.4 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
33 angiomatosis 30.3 TSC2 CCL26
34 bladder urothelial carcinoma 30.1 RHEB PTEN MTOR AKT1
35 birt-hogg-dube syndrome 30.1 TSC2 PTEN MTOR
36 hepatic angiomyolipoma 30.0 TSC2 MTOR
37 chordoma 29.9 PTEN MTOR AKT1
38 leukemia, acute myeloid 29.8 RPS6KB1 PTEN MTOR EIF4EBP1 EIF4E AKT1
39 kidney cancer 29.8 TSC2 PTEN MTOR AKT1
40 renal cell carcinoma, nonpapillary 29.8 TSC2 TSC1 RHEB PTEN MTOR EIF4EBP1
41 mantle cell lymphoma 29.6 RPS6KB1 PTEN MTOR EIF4EBP1 EIF4E AKT1
42 rhabdomyosarcoma 29.6 RPS6KB1 PTEN MTOR EIF4EBP1 AKT1
43 adrenoleukodystrophy 11.4
44 metachromatic leukodystrophy 11.4
45 mitochondrial dna depletion syndrome 4a 11.3
46 balo concentric sclerosis 11.3
47 cerebral sclerosis similar to pelizaeus-merzbacher disease 11.2
48 bladder cancer 11.2
49 wolff-parkinson-white syndrome 11.2
50 sudanophilic cerebral sclerosis 11.2

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 31 (show top 50) (show all 81)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized abnormality of skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0011354
2 hypomelanotic macule 58 31 hallmark (90%) Very frequent (99-80%) HP:0009719
3 cortical dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002539
4 subependymal nodules 58 31 hallmark (90%) Very frequent (99-80%) HP:0009716
5 cortical tubers 58 31 hallmark (90%) Very frequent (99-80%) HP:0009717
6 intellectual disability 58 31 very rare (1%) Frequent (79-30%) HP:0001249
7 sleep disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0002360
8 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
9 self-injurious behavior 58 31 frequent (33%) Frequent (79-30%) HP:0100716
10 autism 58 31 very rare (1%) Frequent (79-30%) HP:0000717
11 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
12 neurodevelopmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0012758
13 abnormal social behavior 58 31 frequent (33%) Frequent (79-30%) HP:0012433
14 infantile spasms 58 31 very rare (1%) Frequent (79-30%) HP:0012469
15 status epilepticus 58 31 frequent (33%) Frequent (79-30%) HP:0002133
16 aggressive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000718
17 focal-onset seizure 58 31 frequent (33%) Frequent (79-30%) HP:0007359
18 impulsivity 58 31 frequent (33%) Frequent (79-30%) HP:0100710
19 shagreen patch 58 31 frequent (33%) Frequent (79-30%) HP:0009721
20 skin plaque 58 31 frequent (33%) Frequent (79-30%) HP:0200035
21 pulmonary lymphangiomyomatosis 58 31 very rare (1%) Frequent (79-30%) HP:0012798
22 angiofibromas 58 31 frequent (33%) Frequent (79-30%) HP:0010615
23 confetti-like hypopigmented macules 58 31 frequent (33%) Frequent (79-30%) HP:0007449
24 chorioretinal hypopigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0040030
25 repetitive compulsive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0008762
26 cardiac rhabdomyoma 58 31 frequent (33%) Frequent (79-30%) HP:0009729
27 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
28 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
29 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
30 hemoptysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002105
31 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
32 noncommunicating hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0010953
33 respiratory tract infection 58 31 occasional (7.5%) Occasional (29-5%) HP:0011947
34 ungual fibroma 58 31 occasional (7.5%) Occasional (29-5%) HP:0100804
35 poor speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002465
36 epidermoid cyst 58 31 occasional (7.5%) Occasional (29-5%) HP:0200040
37 renal angiomyolipoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0006772
38 hepatic cysts 58 31 occasional (7.5%) Occasional (29-5%) HP:0001407
39 subependymal giant-cell astrocytoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0009718
40 polycystic kidney dysplasia 58 31 very rare (1%) Very rare (<4-1%) HP:0000113
41 internal hemorrhage 58 31 very rare (1%) Very rare (<4-1%) HP:0011029
42 pheochromocytoma 58 31 very rare (1%) Very rare (<4-1%) HP:0002666
43 renal cell carcinoma 58 31 very rare (1%) Very rare (<4-1%) HP:0005584
44 respiratory failure 58 31 very rare (1%) Very rare (<4-1%) HP:0002878
45 aortic aneurysm 58 31 very rare (1%) Very rare (<4-1%) HP:0004942
46 stage 5 chronic kidney disease 58 31 very rare (1%) Very rare (<4-1%) HP:0003774
47 parathyroid adenoma 58 31 very rare (1%) Very rare (<4-1%) HP:0002897
48 pituitary adenoma 58 31 very rare (1%) Very rare (<4-1%) HP:0002893
49 carcinoid tumor 58 31 very rare (1%) Very rare (<4-1%) HP:0100570
50 parathyroid hyperplasia 58 31 very rare (1%) Very rare (<4-1%) HP:0008208

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
infantile spasms
subependymal nodules
cortical tubers
hamartomatous lesions of the brain
more
Neurologic Behavioral Psychiatric Manifestations:
autism
hyperactivity
attention deficit disorder

Neoplasia:
ependymoma
chordoma
renal carcinoma
myocardial rhabdomyoma
multiple bilateral renal angiomyolipoma
more
Head And Neck Eyes:
achromatic retinal patches
retinal astrocytoma
optic gliomas

Head And Neck Mouth:
pitted dental enamel
gingival fibroma

Skeletal:
cystic areas of bone rarefaction, esp. phalanges

Endocrine Features:
hypothyroidism
precocious puberty

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

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

Respiratory Lung:
lymphangiomyomatosis, rare

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

Clinical features from OMIM®:

191100 (Updated 20-May-2021)

UMLS symptoms related to Tuberous Sclerosis 1:


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

GenomeRNAi Phenotypes related to Tuberous Sclerosis 1 according to GeneCards Suite gene sharing:

26 (show all 36)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10.61 MTOR RHEB
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 10.61 TSC1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-152 10.61 PTEN
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 10.61 AKT1 MTOR RHEB
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 10.61 RICTOR
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.61 MTOR RHEB
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 10.61 AKT1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 10.61 TSC1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.61 TSC1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.61 RHEB
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 10.61 TSC1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 10.61 AKT1 MTOR RHEB RICTOR
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-50 10.61 AKT1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.61 MTOR
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-57 10.61 RHEB
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 10.61 RHEB
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 10.61 MTOR
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 10.61 AKT1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-82 10.61 TSC1
20 Decreased viability GR00055-A-1 10.13 MTOR
21 Decreased viability GR00055-A-2 10.13 MTOR
22 Decreased viability GR00221-A-1 10.13 AKT1 MLST8 MTOR RHEB RPS6KB1
23 Decreased viability GR00221-A-2 10.13 AKT1
24 Decreased viability GR00221-A-3 10.13 AKT1
25 Decreased viability GR00221-A-4 10.13 AKT1 MLST8 MTOR
26 Decreased viability GR00249-S 10.13 AKT1
27 Decreased viability GR00301-A 10.13 RPS6KB1
28 Decreased viability GR00342-S-1 10.13 MTOR
29 Decreased viability GR00342-S-2 10.13 MTOR
30 Decreased viability GR00381-A-1 10.13 RPS6KB1
31 Decreased viability GR00386-A-1 10.13 RHEB
32 Decreased viability GR00402-S-2 10.13 RPS6KB1
33 Decreased viability with paclitaxel GR00179-A-1 9.35 MTOR RPS6KB1
34 Decreased viability with paclitaxel GR00179-A-2 9.35 MTOR
35 Decreased viability with paclitaxel GR00179-A-3 9.35 MTOR RPS6KB1
36 Reduced mammosphere formation GR00396-S 9.23 AKT1S1 COL5A1 EIF4E EIF4EBP1 MTOR PTEN

MGI Mouse Phenotypes related to Tuberous Sclerosis 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.23 AKT1 COL5A1 EIF4EBP1 GFI1B MLST8 MTOR
2 embryo MP:0005380 10.22 AKT1 COL5A1 DEPTOR GFI1B MLST8 MTOR
3 cellular MP:0005384 10.21 AKT1 EIF4E EIF4EBP1 GFI1B MTOR PTEN
4 growth/size/body region MP:0005378 10.13 AKT1 COL5A1 DEPTOR EIF4EBP1 MLST8 MTOR
5 homeostasis/metabolism MP:0005376 10.07 AKT1 AKT1S1 DEPTOR EIF4EBP1 GFI1B MTOR
6 adipose tissue MP:0005375 10.02 AKT1 EIF4EBP1 MTOR PTEN RICTOR RPS6KB1
7 endocrine/exocrine gland MP:0005379 10.02 AKT1 MTOR PTEN RHEB RICTOR RPS6KB1
8 mortality/aging MP:0010768 10 AKT1 COL5A1 EIF4E EIF4EBP1 GFI1B MLST8
9 muscle MP:0005369 9.61 AKT1 EIF4EBP1 MTOR PTEN RHEB RICTOR
10 neoplasm MP:0002006 9.17 AKT1 EIF4E PTEN RICTOR RPS6KB1 TSC1

Drugs & Therapeutics for Tuberous Sclerosis 1

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

(show top 50) (show all 87)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
2
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
3
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
4
Vigabatrin Approved Phase 4 60643-86-9, 68506-86-5 5665
5 Antibiotics, Antitubercular Phase 4
6 Anti-Bacterial Agents Phase 4
7 Antifungal Agents Phase 4
8 Anti-Infective Agents Phase 4
9 Antiparasitic Agents Phase 4
10 Antimalarials Phase 4
11 Antiprotozoal Agents Phase 4
12 Anticonvulsants Phase 4
13 Neurotransmitter Agents Phase 4
14
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
15
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
16
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
17
Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
18
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
19
Phenytoin Approved, Vet_approved Phase 3 57-41-0 1775
20
Clobazam Approved, Illicit Phase 3 22316-47-8 2789
21
Clonazepam Approved, Illicit Phase 3 1622-61-3 2802
22
Phenobarbital Approved, Investigational Phase 3 50-06-6 4763
23
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
24
Topiramate Approved Phase 3 97240-79-4 5284627
25
Carbamazepine Approved, Investigational Phase 3 298-46-4 2554
26
Ethanol Approved Phase 3 64-17-5 702
27 Strawberry Approved Phase 3
28
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177 70789204
29
Melatonin Approved, Nutraceutical, Vet_approved Phase 3 73-31-4 896
30
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 134070 5280453
31
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
32 Methylprednisolone Acetate Phase 3
33 Antioxidants Phase 3
34 Protective Agents Phase 3
35 Micronutrients Phase 3
36 Trace Elements Phase 3
37 Nutrients Phase 3
38 Hormones Phase 3
39 Vasoconstrictor Agents Phase 3
40 Calcium, Dietary Phase 3
41 Vitamins Phase 3
42 Pharmaceutical Solutions Phase 3
43 Epidiolex Phase 3
44
Calcium Nutraceutical Phase 3 7440-70-2 271
45
Simvastatin Approved Phase 1, Phase 2 79902-63-9 54454
46
Propranolol Approved, Investigational Phase 2 525-66-6 4946
47
tannic acid Approved Phase 2 1401-55-4
48
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
49
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
50
Coal tar Approved Phase 1, Phase 2 8007-45-2

Interventional clinical trials:

(show top 50) (show all 70)
# 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 A Randomised, Double Blind, Placebo Controlled Trial of Doxycycline in Lymphangioleiomyomatosis. Completed NCT00989742 Phase 4 Doxycycline;Placebo
3 CLINICAL TRIAL TO DETERMINE THE EFFICACY AND SAFETY OF RAPAMYCIN IN ANGIOMYOLIPOMAS IN PATIENTS WITH TUBEROUS SCLEROSIS Completed NCT01217125 Phase 4 Sirolimus
4 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
5 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
6 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
7 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
8 A Randomized, Double-blind, Placebo-controlled Study of RAD0001 in the Treatment of Angiomyolipoma in Patients With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00790400 Phase 3 Everolimus (RAD001);Everolimus Placebo
9 A 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)
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 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
12 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
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 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
16 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 Antiepileptic Therapy, 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;Standard of care
17 Efficacy and Safety Study of Vatiquinone for the Treatment of Mitochondrial Disease Subjects With Refractory Epilepsy Recruiting NCT04378075 Phase 2, Phase 3 Vatiquinone
18 An Open-label, Multi-center Long-term Safety Roll-over Study in Patients With Tuberous Sclerosis Complex (TSC) and Refractory Seizures Who Are Judged by the Investigator to Benefit From Continued Treatment With Everolimus After Completion of Study CRAD001M2304. Active, not recruiting NCT02962414 Phase 3 everolimus
19 A Double-blind, Randomized, Placebo-controlled Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P, CBD) as Add-on Therapy in Patients With Tuberous Sclerosis Complex Who Experience Inadequately-controlled Seizures Enrolling by invitation NCT02544750 Phase 3 GWP42003-P
20 Topical Everolimus Versus Placebo for the Treatment of Facial Angiofibromas in Patients With Tuberous Sclerosis Complex. A Phase II/III, Multicentre, Randomized, Double-blind, Placebo-controlled Study of 3 Doses of Topical Everolimus. Not yet recruiting NCT02860494 Phase 2, Phase 3 Everolimus;Placebo
21 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
22 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)
23 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
24 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
25 Randomized Double-Blind Phase 2 Trial Of RAD001 For Neurocognition In Individuals With Tuberous Sclerosis Complex Completed NCT01289912 Phase 2 RAD001;Placebo
26 Rapalogues for Autism Phenotype in TSC: A Feasibility Study Completed NCT01929642 Phase 2 Sirolimus;Everolimus
27 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)
28 RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457964 Phase 1, Phase 2 RAD001
29 Rapamycin Therapy of Angiomyolipomas in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457808 Phase 2 Rapamycin, sirolimus
30 Everolimus (RAD001)Therapy of Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex Completed NCT00411619 Phase 1, Phase 2 Everolimus
31 Everolimus (RAD001) Therapy for Epilepsy in Patients With Tuberous Sclerosis Complex Completed NCT01070316 Phase 1, Phase 2 Everolimus
32 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
33 Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers: Pilot Trial Completed NCT02104011 Phase 2 Propranolol
34 Phase II Study of Topical Rapamycin to Erase Angiofibromas in TSC-Multicenter Evaluation of a Novel Therapy Completed NCT01526356 Phase 2 Placebo;Rapamycin;Rapamycin
35 Phase II Study of Everolimus in Patients With Advanced Solid Malignancies With TSC1, TSC2, NF1, NF2, or STK11 Mutations Completed NCT02352844 Phase 2 Everolimus
36 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
37 Stopping TSC Onset and Progression 2: Epilepsy Prevention in TSC Infants Recruiting NCT04595513 Phase 1, Phase 2 TAVT-18 (sirolimus);Placebo
38 A Phase 2 Open-label 12-Week Trial of Adjunctive Ganaxolone Treatment (Part A) in Tuberous Sclerosis Complex-related Epilepsy Followed by Long-term Treatment (Part B) Recruiting NCT04285346 Phase 2 Ganaxolone
39 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
40 A Two-period, Multicenter, Randomized, Open-label, Phase II Study Evaluating the Clinical Benefit of a Maintenance Treatment Targeting Tumor Molecular Alterations in Patients With Progressive Locally-advanced or Metastatic Solid Tumors Recruiting NCT02029001 Phase 2 Nilotinib (400 mg BID);Everolimus (10 mg QD);Sorafenib (400 mg BID);Lapatinib (1500 mg QD);Pazopanib (800 mg QD);Olaparib (300 mg BID)
41 Preventing Epilepsy Using Vigabatrin In Infants With Tuberous Sclerosis Complex (PREVeNT Trial) A Randomized, Double-blind, Placebo-controlled Seizure Prevention Clinical Trial for Infants With TSC Active, not recruiting NCT02849457 Phase 2 Vigabatrin;Placebo
42 An Open Label, Multicenter, Single Arm Phase II Study to Evaluate the Activity and Tolerability of the Novel mTOR Inhibitor, MLN0128 (TAK-228), in Patients With Locally Advanced or Metastatic Transitional Cell Carcinoma of the Urothelial Tract Whose Tumors Harbor a TSC1 and/or a TSC2 Mutation Active, not recruiting NCT03047213 Phase 2 Sapanisertib
43 Topical Rapamycin Therapy to Alleviate Cutaneous Manifestations of Tuberous Sclerosis Complex and Neurofibromatosis 1 Completed NCT01031901 Phase 1 Skincerity;Skincerity plus sirolimus/rapamycin;Skinercity plus sirolimus/rapamycin
44 Tuberous Sclerosis Complex: Facial Angiofibroma Skin Cream Completed NCT01853423 Phase 1 Rapamune
45 Long-term, Prospective Study Evaluating Clinical and Molecular Biomarkers of Epileptogenesis in a Genetic Model of Epilepsy - Tuberous Sclerosis Complex Unknown status NCT02098759
46 Characterizing Sleep Disorders in Children and Adults With Tuberous Sclerosis Complex (TSC) Unknown status NCT03326765
47 Clinical Presentation and Renal Outcome of Patients With Tuberous Sclerosis Complex and/or Renal Angiomyolipoma in the Great West Region of France Unknown status NCT02887781
48 The Cognitive Variability in Neurofibromatosis Type I and Tuberous Sclerosis Complex Monozygotic Twins Unknown status NCT02436746
49 Tuberous Sclerosis Complex Natural History Study: Renal Manifestations Completed NCT00598455
50 Longitudinal Study to Identify Early Biomarkers of Autism Spectrum Disorder (ASD) in Infants With Tuberous Sclerosis Complex (TSC) Completed NCT01780441

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:

40
Kidney, Brain, Skin, Heart, Lung, Smooth Muscle, Liver

Publications for Tuberous Sclerosis 1

Articles related to Tuberous Sclerosis 1:

(show top 50) (show all 3878)
# Title Authors PMID Year
1
TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex. 25 57 6 61
19419980 2009
2
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. 57 6 25 61
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. 61 57 6 25
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. 57 6 25
11112665 2001
5
Non-penetrance in tuberous sclerosis. 57 6 25
1870099 1991
6
Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations. 6 57 61
18032745 2008
7
High rate of mosaicism in tuberous sclerosis complex. 61 57 6
10330349 1999
8
Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. 6 57 61
9881533 1998
9
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. 61 6 57
9242607 1997
10
Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex. 25 6 61
28127866 2017
11
TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex. 6 61 25
28211972 2017
12
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations. 6 25 61
25927202 2015
13
A tuberous sclerosis complex signalling node at the peroxisome regulates mTORC1 and autophagy in response to ROS. 25 61 6
23955302 2013
14
Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex. 61 25 6
22903760 2013
15
Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds. 61 25 6
21332470 2012
16
Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex. 25 61 6
20165957 2010
17
Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex. 61 6 25
19747374 2009
18
Missense mutations to the TSC1 gene cause tuberous sclerosis complex. 25 6 61
18830229 2009
19
Neuropsychological attention deficits in tuberous sclerosis complex (TSC). 57 25 61
19215038 2009
20
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. 6 25 61
17120248 2006
21
The tuberous sclerosis complex. 61 57 25
17005952 2006
22
Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex. 6 61 25
16554133 2006
23
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. 25 6 61
16114042 2005
24
Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. 6 25 61
11520734 2001
25
A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex. 25 6 61
11403047 2001
26
The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis. 25 6 61
11208653 2001
27
Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. 61 6 25
10823953 2000
28
Germ-line mosaicism in tuberous sclerosis: how common? 6 25 61
10090883 1999
29
Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis. 57 6
9863590 1998
30
Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance. 6 57
9924605 1998
31
Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. 25 6
17287951 2007
32
Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. 6 25
10205261 1999
33
Genetic aspects of tuberous sclerosis in the west of Scotland. 25 57
2918523 1989
34
Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings. 6 61
29926239 2018
35
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2. 61 6
29432982 2018
36
Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the TSC1 and TSC2 genes. 6 61
29932062 2018
37
Childhood-Onset Epileptic Encephalopathy Associated With Isolated Focal Cortical Dysplasia and a Novel TSC1 Germline Mutation. 61 6
28762286 2018
38
Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome. 61 6
29500070 2018
39
Antenatal screening and diagnosis of tuberous sclerosis complex by fetal echocardiography and targeted genomic sequencing. 6 61
29642139 2018
40
Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants. 6 61
29101226 2017
41
Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece. 61 6
29196670 2017
42
Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations. 6 61
29221145 2017
43
The genomic landscape of tuberous sclerosis complex. 61 6
28643795 2017
44
Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex. 61 6
27859028 2017
45
Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex. 61 6
28178598 2017
46
Combination of Multiple Ligation-Dependent Probe Amplification and Illumina MiSeq Amplicon Sequencing for TSC1/TSC2 Gene Analyses in Patients with Tuberous Sclerosis Complex. 61 6
28087349 2017
47
Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China. 61 6
28065512 2017
48
Multifocal micronodular pneumocyte hyperplasia (MMPH) in a patient with tuberous sclerosis-evidence for long term stability. 61 6
28149746 2017
49
Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis. 61 6
28968464 2017
50
Genotype and brain pathology phenotype in children with tuberous sclerosis complex. 61 6
27406250 2016

Variations for Tuberous Sclerosis 1

ClinVar genetic disease variations for Tuberous Sclerosis 1:

6 (show top 50) (show all 8050)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TSC2 NM_000548.5(TSC2):c.598C>T (p.Gln200Ter) SNV Pathogenic 49376 rs45517115 GRCh37: 16:2105519-2105519
GRCh38: 16:2055518-2055518
2 TSC2 NM_000548.5(TSC2):c.599+1G>A SNV Pathogenic 49377 rs45460895 GRCh37: 16:2105521-2105521
GRCh38: 16:2055520-2055520
3 TSC2 NM_000548.5(TSC2):c.3750C>G (p.Tyr1250Ter) SNV Pathogenic 49550 rs45517308 GRCh37: 16:2131735-2131735
GRCh38: 16:2081734-2081734
4 TSC2 NM_000548.5(TSC2):c.481+1G>T SNV Pathogenic 49321 rs45488500 GRCh37: 16:2104442-2104442
GRCh38: 16:2054441-2054441
5 TSC2 NM_000548.5(TSC2):c.3214del (p.Ser1072fs) Deletion Pathogenic 49802 rs137854106 GRCh37: 16:2129358-2129358
GRCh38: 16:2079357-2079357
6 TSC2 NM_000548.5(TSC2):c.4581dup (p.Glu1528Ter) Duplication Pathogenic 49838 rs137854329 GRCh37: 16:2135239-2135240
GRCh38: 16:2085238-2085239
7 TSC2 NM_000548.5(TSC2):c.871dup (p.Leu291fs) Duplication Pathogenic 49932 rs137854052 GRCh37: 16:2108766-2108767
GRCh38: 16:2058765-2058766
8 TSC1 NM_000368.5(TSC1):c.2446A>T (p.Lys816Ter) SNV Pathogenic 667420 rs1588299158 GRCh37: 9:135777032-135777032
GRCh38: 9:132901645-132901645
9 TSC1 NM_000368.5(TSC1):c.959_965del (p.Leu320fs) Deletion Pathogenic 667421 rs1588324615 GRCh37: 9:135786904-135786910
GRCh38: 9:132911517-132911523
10 TSC2 NM_000548.5(TSC2):c.4753_4763del (p.Lys1585fs) Deletion Pathogenic 562149 rs1567533189 GRCh37: 16:2136284-2136294
GRCh38: 16:2086283-2086293
11 TSC1 NM_000368.4(TSC1):c.749T>A (p.Leu250Ter) SNV Pathogenic 5098 rs118203447 GRCh37: 9:135787833-135787833
GRCh38: 9:132912446-132912446
12 TSC1 NM_000368.4(TSC1):c.539T>C (p.Leu180Pro) SNV Pathogenic 5105 rs118203396 GRCh37: 9:135797330-135797330
GRCh38: 9:132921943-132921943
13 TSC2 NM_000548.5(TSC2):c.5161del (p.Met1721fs) Deletion Pathogenic 49360 rs137854251 GRCh37: 16:2138228-2138228
GRCh38: 16:2088227-2088227
14 TSC2 NM_000548.5(TSC2):c.4642del (p.Leu1548fs) Deletion Pathogenic 12392 rs137854083 GRCh37: 16:2135302-2135302
GRCh38: 16:2085301-2085301
15 TSC2 NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) SNV Pathogenic 12393 rs45483392 GRCh37: 16:2137898-2137898
GRCh38: 16:2087897-2087897
16 TSC2 NM_000548.5(TSC2):c.34A>T (p.Lys12Ter) SNV Pathogenic 12394 rs45512692 GRCh37: 16:2098650-2098650
GRCh38: 16:2048649-2048649
17 TSC2 NM_000548.5(TSC2):c.2056_2059dup (p.Ser687fs) Duplication Pathogenic 12395 rs137854337 GRCh37: 16:2121893-2121894
GRCh38: 16:2071892-2071893
18 TSC2 NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) SNV Pathogenic 12397 rs28934872 GRCh37: 16:2120572-2120572
GRCh38: 16:2070571-2070571
19 TSC2 NM_000548.5(TSC2):c.2150T>G (p.Leu717Arg) SNV Pathogenic 12398 rs45517214 GRCh37: 16:2122294-2122294
GRCh38: 16:2072293-2072293
20 TSC2 NM_000548.5(TSC2):c.1432C>T (p.Gln478Ter) SNV Pathogenic 12399 rs121964862 GRCh37: 16:2113043-2113043
GRCh38: 16:2063042-2063042
21 TSC2 NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) SNV Pathogenic 12404 rs45517258 GRCh37: 16:2126142-2126142
GRCh38: 16:2076141-2076141
22 TSC2 NM_000548.5(TSC2):c.2713C>G (p.Arg905Gly) SNV Pathogenic 12405 rs45517258 GRCh37: 16:2126142-2126142
GRCh38: 16:2076141-2076141
23 TSC2 NM_000548.5(TSC2):c.2355+2_2355+5del Deletion Pathogenic 12406 rs137854250 GRCh37: 16:2122983-2122986
GRCh38: 16:2072982-2072985
24 TSC2 NM_000548.5(TSC2):c.1322G>A (p.Trp441Ter) SNV Pathogenic 12407 rs45515894 GRCh37: 16:2112562-2112562
GRCh38: 16:2062561-2062561
25 TSC1 NM_000368.4(TSC1):c.1680_1702del (p.Ser561fs) Deletion Pathogenic 64763 rs118203557 GRCh37: 9:135781263-135781285
GRCh38: 9:132905876-132905898
26 TSC1 NM_000368.5(TSC1):c.733C>T (p.Arg245Ter) SNV Pathogenic 49091 rs118203434 GRCh37: 9:135796754-135796754
GRCh38: 9:132921367-132921367
27 TSC2 NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) SNV Pathogenic 12404 rs45517258 GRCh37: 16:2126142-2126142
GRCh38: 16:2076141-2076141
28 TSC2 NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) Deletion Pathogenic 12402 rs137854218 GRCh37: 16:2138294-2138311
GRCh38: 16:2088293-2088310
29 TSC2 NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) SNV Pathogenic 49960 rs45507199 GRCh37: 16:2138295-2138295
GRCh38: 16:2088294-2088294
30 TSC1 NM_000368.4(TSC1):c.2515_2518del (p.Glu839fs) Deletion Pathogenic 195458 rs794727320 GRCh37: 9:135776209-135776212
GRCh38: 9:132900822-132900825
31 TSC1 NM_000368.5(TSC1):c.897_898CA[2] (p.Gln301fs) Microsatellite Pathogenic 49120 rs118203464 GRCh37: 9:135787680-135787681
GRCh38: 9:132912293-132912294
32 TSC2 NM_000548.5(TSC2):c.826_827del (p.Met276fs) Deletion Pathogenic 49447 rs137853977 GRCh37: 16:2107157-2107158
GRCh38: 16:2057156-2057157
33 TSC2 NP_000539.2(TSC2):p.Gln1579Pro protein only Pathogenic 208846 GRCh37:
GRCh38:
34 TSC1 NM_000368.5(TSC1):c.2041+1G>A SNV Pathogenic 64792 rs397514842 GRCh37: 9:135779797-135779797
GRCh38: 9:132904410-132904410
35 TSC2 NM_000548.5(TSC2):c.3401del (p.Gly1134Alafs) Deletion Pathogenic 50076 rs137854314 GRCh37: 16:2130169-2130169
GRCh38: 16:2080164-2080164
36 TSC1 NM_000368.5(TSC1):c.1580_1581del (p.Gln527fs) Deletion Pathogenic 48805 rs118203550 GRCh37: 9:135781384-135781385
GRCh38: 9:132905997-132905998
37 TSC2 NM_000548.5(TSC2):c.5170C>T (p.Gln1724Ter) SNV Pathogenic 49950 rs45472701 GRCh37: 16:2138237-2138237
GRCh38: 16:2088236-2088236
38 TSC1 NM_000368.5(TSC1):c.1257del (p.Arg420fs) Deletion Pathogenic 48753 rs118203506 GRCh37: 9:135785964-135785964
GRCh38: 9:132910577-132910577
39 TSC2 NM_000548.5(TSC2):c.1444-2A>G SNV Pathogenic 49633 rs45517174 GRCh37: 16:2114271-2114271
GRCh38: 16:2064270-2064270
40 TSC2 NM_000548.5(TSC2):c.569dup (p.Tyr190Ter) Duplication Pathogenic 50038 rs137854359 GRCh37: 16:2105489-2105490
GRCh38: 16:2055488-2055489
41 TSC2 NM_000548.5(TSC2):c.4318C>T (p.Gln1440Ter) SNV Pathogenic 49524 rs45517337 GRCh37: 16:2134541-2134541
GRCh38: 16:2084540-2084540
42 TSC2 NM_000548.5(TSC2):c.2356-2A>C SNV Pathogenic 49205 rs45517229 GRCh37: 16:2124199-2124199
GRCh38: 16:2074198-2074198
43 TSC1 NM_000368.5(TSC1):c.2675_2676del (p.Arg892fs) Deletion Pathogenic 217251 rs118203726 GRCh37: 9:135772947-135772948
GRCh38: 9:132897560-132897561
44 TSC1 NM_000368.5(TSC1):c.989_990del (p.Leu330fs) Deletion Pathogenic 49134 rs118203479 GRCh37: 9:135786879-135786880
GRCh38: 9:132911492-132911493
45 TSC2 NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) SNV Pathogenic 49471 rs45517412 GRCh37: 16:2138294-2138294
GRCh38: 16:2088293-2088293
46 TSC2 NM_000548.5(TSC2):c.2639+1G>C SNV Pathogenic 49845 rs45517252 GRCh37: 16:2125894-2125894
GRCh38: 16:2075893-2075893
47 TSC1 NM_000368.4(TSC1):c.664-1G>C SNV Pathogenic 49081 rs118203423 GRCh37: 9:135796824-135796824
GRCh38: 9:132921437-132921437
48 TSC2 NM_000548.5(TSC2):c.646G>T (p.Glu216Ter) SNV Pathogenic 49380 rs45517118 GRCh37: 16:2106243-2106243
GRCh38: 16:2056242-2056242
49 TSC2 NM_000548.5(TSC2):c.3696dup (p.Asn1233Ter) Duplication Pathogenic 49539 rs137854210 GRCh37: 16:2131680-2131681
GRCh38: 16:2081679-2081680
50 TSC2 NM_000548.5(TSC2):c.5252_5259+19del Deletion Pathogenic 49366 rs137854397 GRCh37: 16:2138313-2138339
GRCh38: 16:2088312-2088338

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

72
# 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 KEGG:

36
# 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 top 50) (show all 85)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.27 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
2
Show member pathways
13.92 TSC2 TSC1 RPTOR RPL7A RICTOR RHEB
3
Show member pathways
13.88 TSC2 TSC1 RPTOR RHEB PTEN MTOR
4
Show member pathways
13.54 TSC2 TSC1 RPS6KB1 PTEN MTOR EIF4EBP1
5
Show member pathways
13.53 TSC2 RICTOR PTEN PRR5 MTOR MLST8
6
Show member pathways
13.52 TSC2 TSC1 RPTOR RPS6KB1 RHEB PTEN
7
Show member pathways
13.24 TSC2 RICTOR PTEN PRR5 MTOR MLST8
8
Show member pathways
13.23 TSC2 TSC1 RPTOR RHEB MTOR MLST8
9
Show member pathways
13.21 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
10
Show member pathways
13.14 TSC2 TSC1 RPTOR RICTOR RHEB PTEN
11
Show member pathways
13.14 TSC2 TSC1 RPTOR RPS6KB1 RHEB PTEN
12
Show member pathways
13.11 TSC2 RPS6KB1 RHEB PTEN MTOR AKT1
13
Show member pathways
13.06 TSC2 TSC1 RPS6KB1 RHEB MTOR EIF4EBP1
14
Show member pathways
13.02 TSC2 TSC1 RPTOR RPS6KB1 RHEB PTEN
15 12.91 TSC2 TSC1 RHEB MTOR EIF4EBP1 AKT1
16
Show member pathways
12.9 RPS6KB1 PTEN MTOR EIF4E AKT1
17
Show member pathways
12.9 TSC2 RPS6KB1 RHEB PTEN MTOR AKT1
18
Show member pathways
12.9 TSC2 RICTOR PTEN PRR5 MTOR MLST8
19
Show member pathways
12.9 RPTOR PTEN MTOR MLST8 EIF4EBP1 EIF4E
20
Show member pathways
12.85 RPS6KB1 MTOR EIF4EBP1 EIF4E AKT1
21
Show member pathways
12.8 TSC2 TSC1 RPS6KB1 PTEN MTOR AKT1
22
Show member pathways
12.66 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
23
Show member pathways
12.64 RPS6KB1 PTEN MTOR EIF4EBP1 EIF4E AKT1
24
Show member pathways
12.63 RPS6KB1 PTEN MTOR EIF4EBP1 EIF4E AKT1
25
Show member pathways
12.6 RPTOR RPS6KB1 PTEN MTOR AKT1S1 AKT1
26
Show member pathways
12.6 TSC2 TSC1 RPS6KB1 RHEB PTEN MTOR
27
Show member pathways
12.59 TSC2 TSC1 RPS6KB1 RHEB MTOR EIF4EBP1
28
Show member pathways
12.58 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
29 12.55 TSC2 RPTOR PTEN AKT1
30 12.52 RPTOR RPS6KB1 MTOR AKT1S1 AKT1
31
Show member pathways
12.48 TSC2 RPS6KB1 PTEN MTOR EIF4EBP1 AKT1
32
Show member pathways
12.47 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
33 12.43 TSC2 TSC1 RPTOR RPS6KB1 RPL7A RICTOR
34
Show member pathways
12.42 TSC2 TSC1 RPTOR RPS6KB1 MTOR EIF4EBP1
35
Show member pathways
12.39 TSC2 RPS6KB1 RHEB MTOR AKT1
36 12.37 TSC2 TSC1 RHEB PTEN MTOR EIF4EBP1
37 12.36 RPS6KB1 RICTOR PTEN MTOR EIF4EBP1 AKT1
38
Show member pathways
12.35 RICTOR PRR5 MTOR MLST8 AKT1
39 12.34 RPTOR MTOR MLST8 AKT1S1
40 12.33 TSC2 TSC1 RHEB PTEN MTOR AKT1
41
Show member pathways
12.32 RPS6KB1 MTOR EIF4EBP1 EIF4E AKT1
42
Show member pathways
12.31 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
43 12.3 TSC2 RPS6KB1 MTOR EIF4EBP1 EIF4E AKT1
44
Show member pathways
12.3 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
45
Show member pathways
12.28 RPTOR MTOR MLST8 AKT1S1
46 12.25 TSC2 TSC1 RPTOR RPS6KB1 RHEB PTEN
47
Show member pathways
12.22 RPS6KB1 MTOR EIF4EBP1 EIF4E AKT1
48
Show member pathways
12.21 TSC2 RPS6KB1 RHEB MTOR EIF4EBP1 EIF4E
49 12.17 TSC2 TSC1 RPS6KB1 PTEN MTOR AKT1
50 12.12 TSC2 RHEB MTOR AKT1

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 cytosol GO:0005829 10.13 TSC2 TSC1 RPTOR RPS6KB1 RPL7A RICTOR
2 protein-containing complex GO:0032991 9.85 TSC1 MTOR EIF4EBP1 EIF4E AKT1S1 AKT1
3 postsynaptic cytosol GO:0099524 9.46 PTEN MTOR EIF4EBP1 EIF4E
4 TSC1-TSC2 complex GO:0033596 9.32 TSC2 TSC1
5 TORC2 complex GO:0031932 9.26 RICTOR PRR5 MTOR MLST8
6 TORC1 complex GO:0031931 8.92 RPTOR MTOR MLST8 AKT1S1

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

(show all 44)
# Name GO ID Score Top Affiliating Genes
1 peptidyl-serine phosphorylation GO:0018105 9.91 RPS6KB1 RICTOR MTOR AKT1
2 regulation of translation GO:0006417 9.89 TSC1 RPS6KB1 EIF4EBP1 EIF4E AKT1
3 cell cycle arrest GO:0007050 9.88 RPTOR RHEB MTOR MLST8
4 cellular response to hypoxia GO:0071456 9.88 PTEN MTOR EIF4EBP1 AKT1
5 cellular response to insulin stimulus GO:0032869 9.87 RPS6KB1 PTEN AKT1
6 G1/S transition of mitotic cell cycle GO:0000082 9.86 RPS6KB1 EIF4EBP1 EIF4E
7 negative regulation of protein kinase activity GO:0006469 9.86 TSC2 DEPTOR AKT1S1 AKT1
8 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.85 RICTOR MTOR MLST8
9 regulation of GTPase activity GO:0043087 9.85 RICTOR MTOR MLST8
10 response to organic substance GO:0010033 9.85 RPS6KB1 PTEN AKT1
11 negative regulation of translation GO:0017148 9.84 TSC1 EIF4EBP1 EIF4E
12 regulation of cellular response to heat GO:1900034 9.84 RPTOR MTOR MLST8 AKT1S1
13 response to nutrient GO:0007584 9.83 RPS6KB1 PTEN MTOR
14 response to insulin GO:0032868 9.83 TSC1 RPS6KB1 MTOR
15 response to nutrient levels GO:0031667 9.83 TSC1 RPS6KB1 MTOR
16 regulation of macroautophagy GO:0016241 9.83 RPTOR RHEB MTOR MLST8
17 regulation of actin cytoskeleton organization GO:0032956 9.82 RICTOR MTOR MLST8
18 negative regulation of protein kinase B signaling GO:0051898 9.81 TSC2 PTEN AKT1
19 positive regulation of smooth muscle cell proliferation GO:0048661 9.81 RPS6KB1 MTOR AKT1
20 positive regulation of protein serine/threonine kinase activity GO:0071902 9.8 RPTOR RICTOR MLST8
21 negative regulation of autophagy GO:0010507 9.79 MTOR EIF4E AKT1
22 negative regulation of insulin receptor signaling pathway GO:0046627 9.77 TSC2 TSC1 RPS6KB1
23 germ cell development GO:0007281 9.77 RPS6KB1 MTOR AKT1
24 positive regulation of actin filament polymerization GO:0030838 9.76 RICTOR MTOR MLST8 CCL26
25 positive regulation of mitotic cell cycle GO:0045931 9.74 RPS6KB1 EIF4EBP1 EIF4E
26 regulation of protein kinase B signaling GO:0051896 9.72 RICTOR PTEN MTOR
27 protein kinase B signaling GO:0043491 9.71 TSC2 RPS6KB1 PTEN AKT1
28 negative regulation of phosphatidylinositol 3-kinase signaling GO:0014067 9.69 TSC2 PTEN
29 negative regulation of macroautophagy GO:0016242 9.69 TSC1 MTOR AKT1
30 insulin-like growth factor receptor signaling pathway GO:0048009 9.68 TSC2 AKT1
31 cellular response to nutrient levels GO:0031669 9.68 RPTOR MTOR
32 regulation of glycogen biosynthetic process GO:0005979 9.67 MTOR AKT1
33 positive regulation of TOR signaling GO:0032008 9.67 RPTOR RICTOR RHEB MLST8
34 positive regulation of transcription by RNA polymerase III GO:0045945 9.66 RPTOR MTOR
35 cellular response to leucine GO:0071233 9.65 RPTOR MTOR
36 anoikis