TSC1
MCID: TBR025
MIFTS: 77

Tuberous Sclerosis 1 (TSC1)

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

Aliases & Classifications for Tuberous Sclerosis 1

MalaCards integrated aliases for Tuberous Sclerosis 1:

Name: Tuberous Sclerosis 1 56 12 73 29 6 15 71
Tuberous Sclerosis Complex 56 74 24 52 25 58 73 36
Tuberous Sclerosis 52 58 73 71
Bourneville Syndrome 52 58 73
Tuberous Sclerosis, Type 1 74 39
Tuberous Sclerosis-1 56 13
Bourneville Disease 24 25
Tuberose Sclerosis 56 25
Tsc1 56 73
Ts 56 73
Tuberous Sclerosis Complex; Tsc 56
Bourneville Phakomatosis 25
Tuberose Sclerosis; Ts 56
Cerebral Sclerosis 25
Sclerosis Tuberosa 25
Epiloia 25
Tsc 56

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:

56
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:

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

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

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

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.

NIH Rare Diseases : 52 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 : 56 Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). (191100)

KEGG : 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 : 73 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 : 74 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 895)
# Related Disease Score Top Affiliating Genes
1 focal cortical dysplasia, type ii 33.9 TSC2 TSC1 MTOR
2 lymphangioleiomyomatosis 33.8 TSC2 TSC1 RPS6KB1 MTOR
3 subependymal giant cell astrocytoma 33.4 TSC2 TSC1 RHEB MTOR EIF4EBP1
4 angiomyolipoma 33.1 TSC2 TSC1 MTOR CCL26
5 congenital heart defects, hamartomas of tongue, and polysyndactyly 32.9 TSC2 TSC1 PTEN CCL26
6 polycystic kidney disease 1 with or without polycystic liver disease 32.7 TSC2 TSC1 MTOR
7 cystic kidney disease 32.7 TSC2 TSC1 MTOR CCL26 AKT1
8 polycystic kidney disease 32.6 TSC2 TSC1 MTOR AKT1
9 kidney angiomyolipoma 32.6 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
10 obstructive hydrocephalus 32.4 TSC2 TSC1 RICTOR
11 kidney cancer 32.3 TSC2 TSC1 PTEN MTOR EIF4E AKT1
12 peutz-jeghers syndrome 32.3 TSC2 TSC1 PTEN
13 aortic disease 32.3 TSC2 TSC1 RPS6KB1 CCL26
14 heart cancer 32.2 TSC2 TSC1 MTOR
15 uterus perivascular epithelioid cell tumor 32.2 TSC2 TSC1 RPS6KB1
16 corneal dystrophy, fleck 32.2 TSC2 TSC1 MTOR
17 benign ependymoma 32.2 TSC2 TSC1 MTOR
18 lissencephaly with cerebellar hypoplasia 32.1 TSC2 TSC1
19 kidney benign neoplasm 32.1 TSC2 TSC1 RHEB MTOR
20 cowden syndrome 1 32.1 TSC2 TSC1 RHEB PTEN MTOR AKT1
21 spinal cord disease 31.9 TSC2 TSC1 RICTOR RHEB MTOR
22 tuberous sclerosis 31.9 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
23 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 31.8 TSC2 TSC1 PTEN MTOR AKT1
24 central nervous system benign neoplasm 31.7 TSC2 TSC1 RHEB PTEN MTOR AKT1
25 pervasive developmental disorder 31.6 TSC2 TSC1 PTEN MTOR EIF4E AKT1
26 proteus syndrome 31.5 TSC2 TSC1 RHEB PTEN MTOR AKT1S1
27 hepatic angiomyolipoma 31.0 TSC2 MTOR
28 hemangioma 30.7 TSC2 PTEN MTOR AKT1
29 neurofibromatosis, type ii 30.5 PTEN MTOR AKT1
30 birt-hogg-dube syndrome 30.5 TSC2 PTEN MTOR
31 angiomatosis 30.5 TSC2 CCL26
32 cowden syndrome 30.4 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
33 fragile x syndrome 30.4 TSC2 MTOR EIF4E AKT1
34 tuberous sclerosis 2 30.3 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
35 renal cell carcinoma, papillary, 1 30.2 RHEB PTEN MTOR AKT1
36 subependymal glioma 30.2 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
37 renal cell carcinoma, nonpapillary 30.1 TSC2 TSC1 PTEN MTOR EIF4EBP1 CCL26
38 medulloblastoma 30.0 TSC2 RICTOR PTEN MTOR GFI1B AKT1
39 chordoma 30.0 PTEN MTOR AKT1
40 myeloma, multiple 30.0 RPS6KB1 PTEN MTOR EIF4EBP1 AKT1
41 rhabdomyosarcoma 29.9 RPS6KB1 PTEN MTOR EIF4EBP1 AKT1
42 mantle cell lymphoma 29.9 RPS6KB1 PTEN MTOR EIF4EBP1 EIF4E AKT1
43 glioblastoma multiforme 29.8 TSC2 TSC1 RPS6KB1 PTEN MTOR AKT1
44 leukemia, acute myeloid 29.7 RPS6KB1 PTEN MTOR EIF4EBP1 EIF4E AKT1
45 autism 29.1 TSC2 TSC1 PTEN MTOR EIF4E AKT1
46 cerebral sclerosis similar to pelizaeus-merzbacher disease 12.4
47 sudanophilic cerebral sclerosis 12.4
48 gilles de la tourette syndrome 12.4
49 cerebral sclerosis, diffuse, scholz type 12.3
50 turner syndrome 12.1

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 cortical dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002539
3 subependymal nodules 58 31 hallmark (90%) Very frequent (99-80%) HP:0009716
4 cortical tubers 58 31 hallmark (90%) Very frequent (99-80%) HP:0009717
5 hypomelanotic macule 58 31 hallmark (90%) Very frequent (99-80%) HP:0009719
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 autism 58 31 very rare (1%) Frequent (79-30%) HP:0000717
9 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
10 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
11 neurodevelopmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0012758
12 self-injurious behavior 58 31 frequent (33%) Frequent (79-30%) HP:0100716
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 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
28 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
29 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
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:

56
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

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:

45
# 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 10.18 AKT1 COL5A1 DEPTOR EIF4EBP1 MLST8 MTOR
5 homeostasis/metabolism MP:0005376 10.13 AKT1 AKT1S1 DEPTOR EIF4EBP1 GFI1B MTOR
6 adipose tissue MP:0005375 10.02 AKT1 EIF4EBP1 MTOR PTEN RICTOR RPS6KB1
7 mortality/aging MP:0010768 10 AKT1 COL5A1 EIF4E EIF4EBP1 GFI1B MLST8
8 liver/biliary system MP:0005370 9.8 AKT1 DEPTOR PTEN RICTOR RPTOR TSC1
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 116)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
2
Vigabatrin Approved Phase 4 68506-86-5, 60643-86-9 5665
3 Antiparasitic Agents Phase 4
4 Antiprotozoal Agents Phase 4
5 Antimalarials Phase 4
6 Anticonvulsants Phase 4
7 Neurotransmitter Agents Phase 4
8
Phenobarbital Approved, Investigational Phase 3 50-06-6 4763
9
Clonazepam Approved, Illicit Phase 3 1622-61-3 2802
10
Phenytoin Approved, Vet_approved Phase 3 57-41-0 1775
11
Clobazam Approved, Illicit Phase 3 22316-47-8 2789
12
Topiramate Approved Phase 3 97240-79-4 5284627
13
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
14
Carbamazepine Approved, Investigational Phase 3 298-46-4 2554
15
Dronabinol Approved, Illicit Phase 3 1972-08-3 16078
16 Strawberry Approved Phase 3
17
Ethanol Approved Phase 3 64-17-5 702
18
Carvedilol Approved, Investigational Phase 2, Phase 3 72956-09-3 2585
19
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 5280453 134070
20
Melatonin Approved, Nutraceutical, Vet_approved Phase 3 73-31-4 896
21 Trace Elements Phase 3
22 Micronutrients Phase 3
23 Vasoconstrictor Agents Phase 3
24 Vitamins Phase 3
25 Nutrients Phase 3
26 Sunflower Phase 3
27 Pharmaceutical Solutions Phase 3
28 Epidiolex Phase 3
29 Calcium, Dietary Phase 2, Phase 3
30 Adrenergic beta-Antagonists Phase 2, Phase 3
31 Antihypertensive Agents Phase 2, Phase 3
32 Adrenergic Antagonists Phase 2, Phase 3
33 Adrenergic Agents Phase 2, Phase 3
34 Vasodilator Agents Phase 2, Phase 3
35 Antioxidants Phase 2, Phase 3
36 Adrenergic alpha-Antagonists Phase 2, Phase 3
37 Adrenergic alpha-1 Receptor Antagonists Phase 2, Phase 3
38 polysaccharide-K Phase 2, Phase 3
39 calcium channel blockers Phase 2, Phase 3
40
Calcium Nutraceutical Phase 2, Phase 3 7440-70-2 271
41
Metformin Approved Phase 2 657-24-9 14219 4091
42
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
43
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
44
Propranolol Approved, Investigational Phase 2 525-66-6 4946
45
Adenosine Approved, Investigational Phase 2 58-61-7 60961
46
tannic acid Approved Phase 2 1401-55-4
47
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
48
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
49
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
50
Olaparib Approved Phase 2 763113-22-0 23725625

Interventional clinical trials:

(show top 50) (show all 113)
# Name Status NCT ID Phase Drugs
1 A Randomised, Double Blind, Placebo Controlled Trial of Doxycycline in Lymphangioleiomyomatosis. Completed NCT00989742 Phase 4 Doxycycline;Placebo
2 CLINICAL TRIAL TO DETERMINE THE EFFICACY AND SAFETY OF RAPAMYCIN IN ANGIOMYOLIPOMAS IN PATIENTS WITH TUBEROUS SCLEROSIS Completed NCT01217125 Phase 4 Sirolimus
3 Phase IV, Single Arm Study of Safety and Efficacy of Everolimus in Chinese Adults With Tuberous Sclerosis Complex Who Have Renal Angiomyolipoma Not Requiring Immediate Surgery Active, not recruiting NCT03525834 Phase 4 everolimus
4 Long-term Follow-up Study to Monitor the Growth and Development of Pediatric Patients Previously Treated With Everolimus in Study CRAD001M2301 Active, not recruiting NCT02338609 Phase 4 Everolimus;Envirolimus drug class as prescribed by Physician
5 Sabril for Treatment of Adult Refractory Partial Seizures Symptomatic of Tuberous Sclerosis: An Open Label, Phase IV Prospective Safety and Tolerability Study Terminated NCT01266291 Phase 4 vigabatrin
6 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
7 Lymphangioleiomyomatosis Efficacy and Safety Trial Unknown status NCT00414648 Phase 3 Sirolimus;Placebo sirolimus
8 Phase III Randomized, Double-Blind, Sham-Controlled Study of Plasma Exchange for Acute Severe Attacks of Inflammatory Demyelinating Disease Refractory to Intravenous Methylprednisolone Unknown status NCT00004645 Phase 3
9 A Randomized, Double-blind, Placebo-controlled Study of RAD0001 in the Treatment of Angiomyolipoma in Patients With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00790400 Phase 3 Everolimus (RAD001);Everolimus Placebo
10 A Randomized, Double-blind, Placebo-controlled Study of Everolimus in the Treatment of Patients With Subependymal Giant Cell Astrocytomas (SEGA) Associated With Tuberous Sclerosis Complex (TSC) Completed NCT00789828 Phase 3 Everolimus;Placebo
11 A Double-blind, Randomized, Placebo-controlled Phase III Trial to Investigate the Efficacy and Safety of NPC-12G Gel (Topical Formulation of Sirolimus) to Angiofibroma and Other Skin Lesions in Patients With Tuberous Sclerosis Complex Completed NCT02635789 Phase 3 NPC-12G gel;Placebo gel
12 A Three-arm, Randomized, Double-blind, Placebo-controlled Study of the Efficacy and Safety of Two Trough-ranges of Everolimus as Adjunctive Therapy in Patients With Tuberous Sclerosis Complex (TSC) Who Have Refractory Partial-onset Seizures Completed NCT01713946 Phase 3 RAD001;Placebo;Antiepileptic drug (1 to 3 only);open label RAD001 (only used for post-extension phase)
13 A Long-term, Single-arm, Open-label Trial of NPC-12G (Topical Formulation of Sirolimus) to Angiofibroma and Other Skin Lesions in Patients With Tuberous Sclerosis Complex Completed NCT02634931 Phase 3 NPC-12G gel
14 Study of Combination Therapy With Topical Rapamycin and Calcitriol for Cutaneous Lesions of Tuberous Sclerosis: A Double-blind Randomized Controlled Trial Completed NCT03140449 Phase 3 Rapamycin;Calcitriol;Rapamycin-calcitriol combination
15 A Double-blind, Randomized, Placebo-controlled Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P, CBD) as Add-on Therapy in Patients With Tuberous Sclerosis Complex Who Experience Inadequately-controlled Seizures Completed NCT02544763 Phase 3 GWP42003-P;Placebo
16 A Randomized, Placebo-controlled Study to Investigate the Efficacy and Safety of Circadin® to Alleviate Sleep Disturbances in Children With Neurodevelopmental Disabilities Completed NCT01906866 Phase 3 Circadin 2/5/10 mg;Placebo
17 A Phase 2/3, Multi-Center, Double-Blind, Placebo-Controlled, Randomized, Parallel-Group, Dose-Response Comparison of the Efficacy and Safety of a Topical Rapamycin Cream for the Treatment of Facial Angiofibromas (FA) Associated With Tuberous Sclerosis Complex (TSC) in Patients 6 Years of Age and Over Recruiting NCT03826628 Phase 2, Phase 3 rapamycin;placebo
18 A Double-Blind, Placebo-Controlled, Parallel-Group Study of Cannabidiol Plus Tetrahydrocannabinol (CBD+THC) Given as Adjunctive Therapy in Patients With Refractory Seizures Recruiting NCT03808935 Phase 3 Medical Cannabis;Placebo
19 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
20 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
21 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
22 An Open-label Pilot Study Using Carvedilol-CR as a P-glycoprotein Inhibitor as Adjunct Therapy in the Treatment of Medically-refractory Epilepsy Terminated NCT00524134 Phase 2, Phase 3 Carvedilol-CR
23 Prednisolone vs. Vigabatrin in the First-line Treatment of Infantile Spasms Withdrawn NCT02299115 Phase 3 Prednisolone;Vigabatrin
24 A Trial of the Efficacy and Safety of Sirolimus(Rapamycin)Therapy for Renal Angiomyolipmoas in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Unknown status NCT00490789 Phase 2 sirolimus
25 Phase II Single Arm Trial With Combination of Everolimus and Letrozole in Treatment of Platinum Resistant Relapse or Refractory or Persistent Ovarian Cancer/Endometrial Cancer (CRAD001CUS242T) Unknown status NCT02188550 Phase 2 everolimus and letrozole
26 Activity and Safety of Everolimus in Combination With Octreotide LAR and Metformin in Patients With Advanced Pancreatic Well-differentiated Neuroendocrine Tumors (pWDNETs): a Phase II, Open, Monocentric, Prospective Study Unknown status NCT02294006 Phase 2 Everolimus plus Octreotide LAR plus Metformin
27 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)
28 A Phase II Multi-Center Study of Rapamycin for Treating Kidney Angiomyolipomas in TSC or LAM Patients Unknown status NCT00126672 Phase 2 sirolimus
29 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)
30 Everolimus (RAD001) Therapy for Epilepsy in Patients With Tuberous Sclerosis Complex Completed NCT01070316 Phase 1, Phase 2 Everolimus
31 RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457964 Phase 1, Phase 2 RAD001
32 Everolimus (RAD001)Therapy of Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex Completed NCT00411619 Phase 1, Phase 2 Everolimus
33 Rapalogues for Autism Phenotype in TSC: A Feasibility Study Completed NCT01929642 Phase 2 Sirolimus;Everolimus
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 A TRIAL OF LETROZOLE IN PULMONARY LYMPHANGIOLEIOMYOMATOSIS Completed NCT01353209 Phase 2 Letrozole;Placebo
36 Randomized Double-Blind Phase 2 Trial Of RAD001 For Neurocognition In Individuals With Tuberous Sclerosis Complex Completed NCT01289912 Phase 2 RAD001;Placebo
37 Phase II Study of Everolimus in Patients With Advanced Solid Malignancies With TSC1, TSC2, NF1, NF2, or STK11 Mutations Completed NCT02352844 Phase 2 Everolimus
38 Rapamycin Therapy of Angiomyolipomas in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457808 Phase 2 Rapamycin, sirolimus
39 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
40 An Angiogenic Study in Patients With Well/Moderately Differentiated Metastatic Pancreatic Neuroendocrine Tumors Treated With Everolimus Completed NCT02305810 Phase 2 Everolimus 10 mg daily
41 Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers: Pilot Trial Completed NCT02104011 Phase 2 Propranolol
42 The ScanBrit Randomised Controlled Study of Gluten- and Casein-free Dietary Intervention for Children With Autism Spectrum Disorders Completed NCT00614198 Phase 2
43 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
44 A Single Arm, Multicenter Phase II a Trial of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas That Cannot be Removed by Surgery Completed NCT01412892 Phase 2 RAD001: Everolimus
45 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
46 Phase 2 Multi Center Prospective Rand. Double Blind Placebo Cont. Parallel Design Study to Evaluate Safety & Efficacy of Topical Sirolimus for Cutaneous Angiofibromas in Subjects W/ Tuberous Sclerosis Complex Followed by Opt. Open Label Recruiting NCT03363763 Phase 2 Sirolimus 0.2%;Sirolimus 0.4%;Placebo ointment
47 A Pilot Study To Evaluate The Effects of Everolimus on Brain mTOR Activity and Cortical Hyperexcitability in TSC and FCD Recruiting NCT02451696 Phase 2 Everolimus
48 Safety and Efficacy of Saracatinib In Subjects With Lymphangioleiomyomatosis Recruiting NCT02737202 Phase 2 saracatinib
49 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
50 An Open Label, Multicenter, Single Arm Phase II Study to Evaluate the Activity and Tolerability of the Novel mTOR Inhibitor, MLN0128 (TAK-228), in Patients With Locally Advanced or Metastatic Transitional Cell Carcinoma of the Urothelial Tract Whose Tumors Harbor a TSC1 and/or a TSC2 Mutation Recruiting NCT03047213 Phase 2 Sapanisertib

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, Lung, Heart, Liver, Testes

Publications for Tuberous Sclerosis 1

Articles related to Tuberous Sclerosis 1:

(show top 50) (show all 3591)
# Title Authors PMID Year
1
Non-penetrance in tuberous sclerosis. 6 56 24
1870099 1991
2
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. 61 6 56
9242607 1997
3
TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex. 24 56 61
19419980 2009
4
Neuropsychological attention deficits in tuberous sclerosis complex (TSC). 61 24 56
19215038 2009
5
Missense mutations to the TSC1 gene cause tuberous sclerosis complex. 61 6 24
18830229 2009
6
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. 56 24 61
17304050 2007
7
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. 6 24 61
17120248 2006
8
The tuberous sclerosis complex. 61 56 24
17005952 2006
9
Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. 61 24 56
15798777 2005
10
A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex. 6 24 61
11403047 2001
11
Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. 61 24 6
10823953 2000
12
Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance. 56 6
9924605 1998
13
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. 56 24
11112665 2001
14
Genetic aspects of tuberous sclerosis in the west of Scotland. 24 56
2918523 1989
15
Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex. 61 56
25288394 2014
16
Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population. 61 56
21266383 2011
17
Three independent mutations in the TSC2 gene in a family with tuberous sclerosis. 61 6
19259131 2009
18
Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex. 61 56
19332694 2009
19
Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex. 61 56
18389497 2008
20
Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations. 56 61
18032745 2008
21
Aggressive retinal astrocytomas in 4 patients with tuberous sclerosis complex. 61 56
15955990 2005
22
Astrocyte-specific TSC1 conditional knockout mice exhibit abnormal neuronal organization and seizures. 61 56
12205640 2002
23
Heterozygosity for the tuberous sclerosis complex (TSC) gene products results in increased astrocyte numbers and decreased p27-Kip1 expression in TSC2+/- cells. 56 61
12037687 2002
24
Renal angiomyolipomata and learning difficulty in tuberous sclerosis complex. 56 61
10712110 2000
25
Tuberous Sclerosis Complex 61 6
20301399 1999
26
High rate of mosaicism in tuberous sclerosis complex. 56 61
10330349 1999
27
Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood. 61 6
10206124 1999
28
Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. 61 56
9881533 1998
29
White matter abnormalities in tuberous sclerosis complex. 56 61
9755694 1998
30
Tuberous sclerosis complex and Wolff-Parkinson-White syndrome. 61 56
9579160 1998
31
Tuberous sclerosis complex: neonatal deaths in three of four children of consanguineous, non-expressing parents. 61 56
9132502 1997
32
The cutaneous features of tuberous sclerosis: a population study. 61 56
8776349 1996
33
Unilateral facial angiofibromas--a segmental form of tuberous sclerosis. 56 61
8733380 1996
34
Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex. 61 6
8825048 1996
35
Mutation analysis of the TSC2 gene in an African-American family. 61 6
8634701 1995
36
Somatic mosaicism and clinical variation in tuberous sclerosis complex. 6 61
7823706 1995
37
Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere. 56 61
1415216 1992
38
Tumor suppressor Tsc1 is a new Hsp90 co-chaperone that facilitates folding of kinase and non-kinase clients. 24 61
29127155 2017
39
Early autism symptoms in infants with tuberous sclerosis complex. 24 61
28801991 2017
40
Influence of seizures on early development in tuberous sclerosis complex. 61 24
28457992 2017
41
Self-injury and aggression in adults with tuberous sclerosis complex: Frequency, associated person characteristics, and implications for assessment. 61 24
28411579 2017
42
Beneficial Effects of Everolimus on Autism and Attention-Deficit/Hyperactivity Disorder Symptoms in a Group of Patients with Tuberous Sclerosis Complex. 61 24
27797585 2017
43
Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex. 61 24
28127866 2017
44
TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex. 61 24
28211972 2017
45
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 6
27854360 2017
46
TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients. 61 24
28057044 2017
47
Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study. 24 61
27613521 2016
48
Loss of Tuberous Sclerosis Complex 2 (TSC2) as a Predictive Biomarker of Response to mTOR Inhibitor Treatment in Patients with Hepatocellular Carcinoma. 24 61
27751352 2016
49
Symptom profiles of autism spectrum disorder in tuberous sclerosis complex. 24 61
27440144 2016
50
Tuberous sclerosis complex. 24 61
27226234 2016

Variations for Tuberous Sclerosis 1

ClinVar genetic disease variations for Tuberous Sclerosis 1:

6 (show top 50) (show all 3502) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TSC1 NM_000368.4(TSC1):c.2041+1G>ASNV Pathogenic 64792 rs397514842 9:135779797-135779797 9:132904410-132904410
2 TSC1 NM_001362177.2(TSC1):c.-154+1502deldeletion Pathogenic 64812 rs397514861 9:135802652-135802652 9:132927265-132927265
3 TSC1 NM_000368.4(TSC1):c.2389C>T (p.Gln797Ter)SNV Pathogenic 64813 rs397514862 9:135777994-135777994 9:132902607-132902607
4 TSC1 NM_000368.5(TSC1):c.866C>G (p.Ser289Ter)SNV Pathogenic 64822 rs397514867 9:135787716-135787716 9:132912329-132912329
5 TSC1 NM_000368.5(TSC1):c.2698C>T (p.Gln900Ter)SNV Pathogenic 64826 rs397514871 9:135772925-135772925 9:132897538-132897538
6 TSC1 NM_000368.4(TSC1):c.2128C>T (p.Gln710Ter)SNV Pathogenic 64830 rs397514874 9:135779118-135779118 9:132903731-132903731
7 TSC1 NM_000368.4(TSC1):c.737+1G>TSNV Pathogenic 64836 rs118203438 9:135796749-135796749 9:132921362-132921362
8 TSC1 NM_000368.5(TSC1):c.2672del (p.Asn891fs)deletion Pathogenic 64834 rs118203724 9:135772951-135772951 9:132897564-132897564
9 TSC2 NM_000548.5(TSC2):c.4813C>T (p.Gln1605Ter)SNV Pathogenic 64857 rs397514888 16:2136344-2136344 16:2086343-2086343
10 TSC2 NM_000548.5(TSC2):c.1257+2T>GSNV Pathogenic 64864 rs45509697 16:2112011-2112011 16:2062010-2062010
11 TSC2 NM_000548.5(TSC2):c.2688G>A (p.Trp896Ter)SNV Pathogenic 64888 rs397514913 16:2126117-2126117 16:2076116-2076116
12 TSC2 NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter)SNV Pathogenic 64885 rs397515297 16:2114276-2114276 16:2064275-2064275
13 TSC2 NM_000548.5(TSC2):c.4878_4881del (p.Thr1627fs)deletion Pathogenic 64908 rs137854050 16:2136759-2136762 16:2086758-2086761
14 TSC2 NM_000548.5(TSC2):c.4351del (p.Arg1451fs)deletion Pathogenic 64920 rs397514939 16:2134569-2134569 16:2084568-2084568
15 TSC2 NM_000548.5(TSC2):c.4375del (p.Arg1459fs)deletion Pathogenic 64944 rs397514959 16:2134595-2134595 16:2084594-2084594
16 TSC2 NM_000548.5(TSC2):c.975+1G>TSNV Pathogenic 64960 rs137854200 16:2108875-2108875 16:2058874-2058874
17 TSC2 NM_000548.5(TSC2):c.4146_4162dup (p.Ser1388Ter)duplication Pathogenic 64969 rs397514976 16:2134365-2134366 16:2084364-2084365
18 TSC2 NM_000548.5(TSC2):c.3310C>T (p.Gln1104Ter)SNV Pathogenic 64972 rs397514978 16:2129583-2129583 16:2079582-2079582
19 TSC2 NM_000548.5(TSC2):c.3623G>A (p.Trp1208Ter)SNV Pathogenic 64973 rs397514979 16:2131608-2131608 16:2081607-2081607
20 TSC2 NM_000548.5(TSC2):c.481+5G>ASNV Pathogenic 64988 rs137854135 16:2104446-2104446 16:2054445-2054445
21 TSC2 NM_000548.5(TSC2):c.4147_4163dup (p.Pro1389fs)duplication Pathogenic 65019 rs397515009 16:2134369-2134370 16:2084368-2084369
22 TSC2 NM_000548.5(TSC2):c.4473dup (p.Val1492fs)duplication Pathogenic 65036 rs397515023 16:2134693-2134694 16:2084692-2084693
23 TSC2 NM_000548.5(TSC2):c.337-1G>ASNV Pathogenic 65038 rs45517105 16:2104296-2104296 16:2054295-2054295
24 TSC2 NM_000548.5(TSC2):c.4351dup (p.Arg1451fs)duplication Pathogenic 65040 rs397514939 16:2134568-2134569 16:2084567-2084568
25 TSC2 NM_000548.5(TSC2):c.1257+1G>ASNV Pathogenic 65089 rs397515066 16:2112010-2112010 16:2062009-2062009
26 TSC2 NM_000548.5(TSC2):c.1875_1876del (p.Leu626fs)deletion Pathogenic 65098 rs397515073 16:2121545-2121546 16:2071544-2071545
27 TSC2 NM_000548.5(TSC2):c.1348_1349GA[2] (p.Arg451fs)short repeat Pathogenic 65109 rs397515082 16:2112588-2112589 16:2062587-2062588
28 TSC2 NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter)SNV Pathogenic 65117 rs397515087 16:2129381-2129381 16:2079380-2079380
29 TSC2 NM_000548.5(TSC2):c.4935dup (p.Val1646fs)duplication Pathogenic 65134 rs137854141 16:2136815-2136816 16:2086814-2086815
30 TSC2 NM_000548.5(TSC2):c.4957T>C (p.Ser1653Pro)SNV Pathogenic 65215 rs397515159 16:2136840-2136840 16:2086839-2086839
31 TSC2 NM_000548.5(TSC2):c.5160+2T>CSNV Pathogenic 65234 rs397515170 16:2138142-2138142 16:2088141-2088141
32 TSC2 NM_000548.5(TSC2):c.4730del (p.Gly1577fs)deletion Pathogenic 65239 rs397515173 16:2136259-2136259 16:2086258-2086258
33 TSC2 NM_000548.5(TSC2):c.2640-1G>ASNV Pathogenic 65277 rs397515203 16:2126068-2126068 16:2076067-2076067
34 TSC2 NM_000548.5(TSC2):c.4316del (p.Gly1439fs)deletion Pathogenic 65273 rs137853988 16:2134536-2134536 16:2084535-2084535
35 TSC2 NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro)SNV Pathogenic 65281 rs397515206 16:2112583-2112583 16:2062582-2062582
36 TSC2 NM_000548.5(TSC2):c.1953_1954AG[3] (p.Gly654fs)short repeat Pathogenic 65311 rs137854144 16:2121791-2121792 16:2071790-2071791
37 TSC2 NM_000548.5(TSC2):c.724dup (p.Thr242fs)duplication Pathogenic 65345 rs397515256 16:2106719-2106720 16:2056718-2056719
38 TSC2 NM_000548.5(TSC2):c.1443+1G>TSNV Pathogenic 65346 rs397515257 16:2113055-2113055 16:2063054-2063054
39 TSC1 NM_000368.4(TSC1):c.2515_2518del (p.Glu839fs)deletion Pathogenic 195458 rs794727320 9:135776209-135776212 9:132900822-132900825
40 TSC1 NM_000368.5(TSC1):c.2675_2676del (p.Arg892fs)deletion Pathogenic 217251 rs118203726 9:135772947-135772948 9:132897560-132897561
41 TSC1 NM_000368.4(TSC1):c.1998-1G>TSNV Pathogenic 237706 rs118203614 9:135779842-135779842 9:132904455-132904455
42 TSC1 NM_000368.4(TSC1):c.1530_1531del (p.Asp510fs)deletion Pathogenic 237701 rs118203544 9:135781434-135781435 9:132906047-132906048
43 TSC1 NM_000368.4(TSC1):c.1987G>T (p.Glu663Ter)SNV Pathogenic 280309 rs886041538 9:135780978-135780978 9:132905591-132905591
44 TSC1 NC_000009.11:g.(135750586_135753559)_(135772997_135776102)deldeletion Pathogenic 397550 9:135750586-135776102 9:132875199-132900715
45 TSC1 NM_000368.4(TSC1):c.1518del (p.Tyr508fs)deletion Pathogenic 411251 rs1060503210 9:135781447-135781447 9:132906060-132906060
46 TSC1 NM_000368.4(TSC1):c.2165del (p.Lys722fs)deletion Pathogenic 411255 rs1060503213 9:135779081-135779081 9:132903694-132903694
47 TSC1 NM_000368.4(TSC1):c.2341_2360dup (p.Glu787fs)duplication Pathogenic 411223 rs1554814935 9:135778022-135778023 9:132902635-132902636
48 TSC1 NM_000368.4(TSC1):c.492G>A (p.Trp164Ter)SNV Pathogenic 452870 rs1554819870 9:135798751-135798751 9:132923364-132923364
49 TSC2 NM_000548.5(TSC2):c.5160+2_5160+3delshort repeat Pathogenic 426862 rs137854036 16:2138140-2138141 16:2088139-2088140
50 TSC1 NC_000009.12:g.(?_132910551)_(132912477_?)deldeletion Pathogenic 466000 9:135785938-135787864 9:132910551-132912477

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

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 83)
# 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
13.53 TSC2 RICTOR PTEN PRR5 MTOR MLST8
5
Show member pathways
13.53 TSC2 TSC1 RPS6KB1 PTEN MTOR EIF4EBP1
6
Show member pathways
13.41 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
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
13.08 TSC2 TSC1 RPTOR RPS6KB1 RHEB PTEN
14
Show member pathways
13.06 TSC2 TSC1 RPS6KB1 RHEB MTOR EIF4EBP1
15
Show member pathways
13 TSC2 RPS6KB1 RHEB PTEN MTOR EIF4EBP1
16
Show member pathways
12.9 RPS6KB1 PTEN MTOR EIF4E AKT1
17 12.9 TSC2 TSC1 RHEB MTOR EIF4EBP1 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
12.79 TSC2 TSC1 RPS6KB1 PTEN MTOR AKT1
22
Show member pathways
12.75 RPS6KB1 PTEN MTOR EIF4EBP1 EIF4E AKT1
23
Show member pathways
12.73 TSC2 RPS6KB1 RHEB MTOR AKT1
24
Show member pathways
12.66 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
25
Show member pathways
12.62 RPS6KB1 PTEN MTOR EIF4EBP1 EIF4E AKT1
26
Show member pathways
12.6 RPTOR RPS6KB1 PTEN MTOR AKT1S1 AKT1
27
Show member pathways
12.6 TSC2 TSC1 RPS6KB1 RHEB PTEN MTOR
28
Show member pathways
12.59 TSC2 TSC1 RPS6KB1 RHEB MTOR EIF4EBP1
29
Show member pathways
12.58 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
30 12.51 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
Show member pathways
12.46 RPS6KB1 MTOR EIF4EBP1 EIF4E AKT1
34 12.43 TSC2 TSC1 RPTOR RPS6KB1 RPL7A RICTOR
35
Show member pathways
12.42 TSC2 TSC1 RPTOR RPS6KB1 MTOR EIF4EBP1
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 12.33 RPTOR MTOR MLST8 AKT1S1
40 12.33 TSC2 TSC1 RHEB PTEN MTOR AKT1
41
Show member pathways
12.31 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
42 12.3 TSC2 RPS6KB1 MTOR EIF4EBP1 EIF4E AKT1
43
Show member pathways
12.3 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
44
Show member pathways
12.28 RPTOR MTOR MLST8 AKT1S1
45 12.25 TSC2 TSC1 RPTOR RPS6KB1 RHEB PTEN
46
Show member pathways
12.21 RPS6KB1 MTOR EIF4EBP1 EIF4E AKT1
47
Show member pathways
12.21 TSC2 RPS6KB1 RHEB MTOR EIF4EBP1 EIF4E
48 12.17 TSC2 TSC1 RPS6KB1 PTEN MTOR AKT1
49 12.12 TSC2 RHEB MTOR AKT1
50 12.12 RPS6KB1 MTOR EIF4EBP1 EIF4E 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 36)
# Name GO ID Score Top Affiliating Genes
1 peptidyl-serine phosphorylation GO:0018105 9.91 RPS6KB1 RICTOR MTOR AKT1
2 cell cycle arrest GO:0007050 9.88 RPTOR RHEB MTOR MLST8
3 cellular response to hypoxia GO:0071456 9.88 PTEN MTOR EIF4EBP1 AKT1
4 regulation of translation GO:0006417 9.88 TSC1 RPS6KB1 EIF4EBP1 EIF4E AKT1
5 negative regulation of protein kinase activity GO:0006469 9.85 TSC2 DEPTOR AKT1S1 AKT1
6 cellular response to insulin stimulus GO:0032869 9.84 RPS6KB1 PTEN AKT1
7 G1/S transition of mitotic cell cycle GO:0000082 9.84 RPS6KB1 EIF4EBP1 EIF4E
8 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.83 RICTOR MTOR MLST8
9 regulation of cellular response to heat GO:1900034 9.83 RPTOR MTOR MLST8 AKT1S1
10 regulation of GTPase activity GO:0043087 9.82 RICTOR MTOR MLST8
11 negative regulation of translation GO:0017148 9.81 TSC1 EIF4EBP1 EIF4E
12 regulation of actin cytoskeleton organization GO:0032956 9.81 RICTOR MTOR MLST8
13 regulation of macroautophagy GO:0016241 9.81 RPTOR RHEB MTOR MLST8
14 negative regulation of protein kinase B signaling GO:0051898 9.79 TSC2 PTEN AKT1
15 negative regulation of autophagy GO:0010507 9.79 MTOR EIF4E AKT1
16 protein kinase B signaling GO:0043491 9.77 TSC2 PTEN AKT1
17 negative regulation of insulin receptor signaling pathway GO:0046627 9.74 TSC2 TSC1 RPS6KB1
18 positive regulation of mitotic cell cycle GO:0045931 9.73 RPS6KB1 EIF4EBP1 EIF4E
19 positive regulation of actin filament polymerization GO:0030838 9.73 RICTOR MTOR MLST8 CCL26
20 regulation of protein kinase B signaling GO:0051896 9.71 RICTOR PTEN MTOR
21 positive regulation of lipid biosynthetic process GO:0046889 9.67 MTOR AKT1
22 negative regulation of macroautophagy GO:0016242 9.67 TSC1 MTOR AKT1
23 positive regulation of TOR signaling GO:0032008 9.67 RPTOR RICTOR RHEB MLST8
24 insulin-like growth factor receptor signaling pathway GO:0048009 9.66 TSC2 AKT1
25 cellular response to nutrient levels GO:0031669 9.65 RPTOR MTOR
26 positive regulation of endothelial cell proliferation GO:0001938 9.65 RPTOR RICTOR MTOR CCL26 AKT1
27 regulation of glycogen biosynthetic process GO:0005979 9.64 MTOR AKT1
28 cellular response to leucine GO:0071233 9.63 RPTOR MTOR
29 anoikis GO:0043276 9.63 TSC2 MTOR AKT1
30 positive regulation of transcription by RNA polymerase III GO:0045945 9.62 RPTOR MTOR
31 negative regulation of TOR signaling GO:0032007 9.62 TSC2 TSC1 DEPTOR AKT1S1
32 cellular response to decreased oxygen levels GO:0036294 9.6 PTEN AKT1
33 TORC1 signaling GO:0038202 9.58 RPTOR MTOR MLST8
34 activation of protein kinase B activity GO:0032148 9.55 RICTOR PRR5 MTOR MLST8 AKT1
35 negative regulation of cell size GO:0045792 9.43 TSC1 PTEN MTOR DEPTOR AKT1S1 AKT1
36 TOR signaling GO:0031929 9.17 RPTOR RPS6KB1 RICTOR MTOR MLST8 EIF4EBP1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.6 TSC2 TSC1 RPTOR RPS6KB1 RPL7A RICTOR
2 GTPase activating protein binding GO:0032794 9.48 TSC1 AKT1
3 RNA polymerase III type 3 promoter sequence-specific DNA binding GO:0001006 9.46 RPTOR MTOR
4 RNA polymerase III type 3 promoter DNA binding GO:0001032 9.43 RPTOR MTOR
5 protein kinase binding GO:0019901 9.43 RPTOR RICTOR RHEB PTEN MTOR AKT1
6 RNA polymerase III type 2 promoter sequence-specific DNA binding GO:0001003 9.4 RPTOR MTOR
7 RNA polymerase III type 1 promoter sequence-specific DNA binding GO:0001002 9.37 RPTOR MTOR
8 TFIIIC-class transcription factor complex binding GO:0001156 9.32 RPTOR MTOR
9 RNA polymerase III type 2 promoter DNA binding GO:0001031 9.26 RPTOR MTOR
10 RNA polymerase III type 1 promoter DNA binding GO:0001030 9.16 RPTOR MTOR

Sources for Tuberous Sclerosis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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