TSC1
MCID: TBR025
MIFTS: 76

Tuberous Sclerosis 1 (TSC1)

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

Aliases & Classifications for Tuberous Sclerosis 1

MalaCards integrated aliases for Tuberous Sclerosis 1:

Name: Tuberous Sclerosis 1 56 12 73 29 6 15 71
Tuberous Sclerosis Complex 56 74 24 25 58 73 36
Tuberous Sclerosis 58 73 71
Tuberous Sclerosis, Type 1 74 39
Tuberous Sclerosis-1 56 13
Bourneville Syndrome 58 73
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 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 angiofibromas and subependymal nodules

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

OMIM : 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 898)
# Related Disease Score Top Affiliating Genes
1 focal cortical dysplasia, type ii 33.9 TSC2 TSC1 MTOR
2 lymphangioleiomyomatosis 33.7 TSC2 TSC1 RPS6KB1 RPS6 MTOR
3 subependymal giant cell astrocytoma 33.6 TSC2 TSC1 RHEB MTOR
4 angiomyolipoma 33.0 TSC2 TSC1 RPS6KB1 MTOR CCL26
5 congenital heart defects, hamartomas of tongue, and polysyndactyly 33.0 TSC2 TSC1 PTEN CCL26
6 cystic kidney disease 32.8 TSC2 TSC1 MTOR CCL26
7 polycystic kidney disease 1 with or without polycystic liver disease 32.7 TSC2 TSC1 MTOR
8 polycystic kidney disease 32.7 TSC2 TSC1 MTOR AKT1
9 kidney angiomyolipoma 32.6 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
10 peutz-jeghers syndrome 32.4 TSC2 TSC1 PTEN
11 hepatic angiomyolipoma 32.3 TSC2 TSC1 MTOR
12 uterus perivascular epithelioid cell tumor 32.3 TSC2 TSC1 RPS6KB1
13 benign ependymoma 32.2 TSC2 TSC1 MTOR
14 heart cancer 32.2 TSC2 TSC1 SERPINA3
15 connective tissue benign neoplasm 32.2 TSC2 TSC1 SERPINA3
16 aortic disease 32.2 TSC2 TSC1 RPS6KB1
17 lissencephaly with cerebellar hypoplasia 32.2 TSC2 TSC1
18 cowden syndrome 1 32.1 TSC2 TSC1 RHEB PTEN MTOR AKT1
19 kidney benign neoplasm 32.0 TSC2 TSC1 RPS6KB1 RHEB MTOR
20 spinal cord disease 32.0 TSC2 TSC1 RICTOR RHEB MTOR
21 tuberous sclerosis 31.9 TSC2 TSC1 RPTOR RPS6KB1 RPS6 RICTOR
22 kidney cancer 31.9 TSC2 TSC1 PTEN MTOR EIF4E AKT1
23 central nervous system benign neoplasm 31.8 TSC2 TSC1 RHEB PTEN MTOR AKT1
24 cell type benign neoplasm 31.7 TSC2 TSC1 SERPINA3 PTEN MTOR AKT1
25 contractures, pterygia, and variable skeletal fusions syndrome 1a 31.7 TSC2 TSC1 SERPINA3 PTEN MTOR AKT1
26 pervasive developmental disorder 31.7 TSC2 TSC1 PTEN MTOR EIF4E AKT1
27 diabetes mellitus, noninsulin-dependent 31.6 TSC2 TSC1 SERPINA3 RPS6KB1 RHEB MTOR
28 proteus syndrome 31.6 TSC2 TSC1 RHEB PTEN MTOR AKT1S1
29 gallbladder disease 31.6 TSC1 SERPINA3 AKT1
30 hemangioma 30.7 TSC2 PTEN MTOR AKT1
31 angiomatosis 30.5 TSC2 CCL26
32 subependymal glioma 30.5 TSC2 TSC1 RPTOR RPS6KB1 RPS6 RICTOR
33 fragile x syndrome 30.4 TSC2 MTOR EIF4E AKT1
34 neurofibromatosis, type iv, of riccardi 30.4 TSC2 PTEN MTOR AKT1
35 chordoma 30.3 SERPINA3 PTEN MTOR AKT1
36 meningioma, familial 30.3 SERPINA3 RICTOR RHEB PTEN AKT1
37 renal cell carcinoma, papillary, 1 30.3 RHEB PTEN MTOR AKT1
38 cowden syndrome 30.2 TSC2 TSC1 RPTOR RPS6KB1 RPS6 RICTOR
39 renal cell carcinoma, nonpapillary 30.2 TSC2 TSC1 PTEN MTOR EIF4EBP1 AKT1
40 ovary adenocarcinoma 30.1 SERPINA3 PTEN AKT1
41 tuberous sclerosis 2 30.1 TSC2 TSC1 RPTOR RPS6KB1 RPS6 RICTOR
42 rhabdomyosarcoma 30.0 RPS6KB1 PTEN MTOR EIF4EBP1 AKT1
43 mantle cell lymphoma 29.9 RPS6KB1 PTEN MTOR EIF4EBP1 EIF4E AKT1
44 glioblastoma multiforme 29.8 TSC2 TSC1 RPS6KB1 RICTOR PTEN MTOR
45 leukemia, acute myeloid 29.7 SERPINA3 RPS6KB1 PTEN MTOR EIF4EBP1 EIF4E
46 autism 29.6 TSC2 TSC1 PTEN MTOR EIF4E AKT1
47 cerebral sclerosis similar to pelizaeus-merzbacher disease 12.4
48 sudanophilic cerebral sclerosis 12.4
49 gilles de la tourette syndrome 12.4
50 cerebral sclerosis, diffuse, scholz type 12.3

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



Diseases related to Tuberous Sclerosis 1

Symptoms & Phenotypes for Tuberous Sclerosis 1

Human phenotypes related to Tuberous Sclerosis 1:

58 31 (show top 50) (show all 105)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 angiofibromas 58 31 hallmark (90%) Frequent (79-30%) HP:0010615
2 subependymal nodules 58 31 hallmark (90%) Very frequent (99-80%) HP:0009716
3 subependymal giant-cell astrocytoma 58 31 hallmark (90%) Occasional (29-5%) HP:0009718
4 ungual fibroma 58 31 hallmark (90%) Occasional (29-5%) HP:0100804
5 eeg abnormality 31 hallmark (90%) HP:0002353
6 papule 31 hallmark (90%) HP:0200034
7 prominent occiput 31 hallmark (90%) HP:0000269
8 skin tags 31 hallmark (90%) HP:0010609
9 intellectual disability 58 31 very rare (1%) Frequent (79-30%) HP:0001249
10 seizures 58 31 frequent (33%) Very frequent (99-80%) HP:0001250
11 behavioral abnormality 58 31 frequent (33%) Very frequent (99-80%) HP:0000708
12 confetti-like hypopigmented macules 58 31 frequent (33%) Frequent (79-30%) HP:0007449
13 retinal hamartoma 58 31 frequent (33%) Frequent (79-30%) HP:0009594
14 shagreen patch 58 31 frequent (33%) Frequent (79-30%) HP:0009721
15 cortical dysplasia 58 31 frequent (33%) Very frequent (99-80%) HP:0002539
16 global developmental delay 31 frequent (33%) HP:0001263
17 optic atrophy 31 frequent (33%) HP:0000648
18 hypopigmented skin patches 31 frequent (33%) HP:0001053
19 multiple cafe-au-lait spots 31 frequent (33%) HP:0007565
20 nevus flammeus 31 frequent (33%) HP:0001052
21 achromatic retinal patches 31 frequent (33%) HP:0009727
22 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
23 cardiac rhabdomyoma 58 31 occasional (7.5%) Frequent (79-30%) HP:0009729
24 pulmonary lymphangiomyomatosis 58 31 occasional (7.5%) Frequent (79-30%) HP:0012798
25 renal angiomyolipoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0006772
26 cerebral calcification 31 occasional (7.5%) HP:0002514
27 hypothyroidism 31 occasional (7.5%) HP:0000821
28 precocious puberty 31 occasional (7.5%) HP:0000826
29 respiratory insufficiency 31 occasional (7.5%) HP:0002093
30 increased intracranial pressure 31 occasional (7.5%) HP:0002516
31 emphysema 31 occasional (7.5%) HP:0002097
32 arrhythmia 31 occasional (7.5%) HP:0011675
33 congestive heart failure 31 occasional (7.5%) HP:0001635
34 gingivitis 31 occasional (7.5%) HP:0000230
35 multiple renal cysts 31 occasional (7.5%) HP:0005562
36 iris coloboma 31 occasional (7.5%) HP:0000612
37 neoplasm of the pancreas 31 occasional (7.5%) HP:0002894
38 abnormality of the liver 31 occasional (7.5%) HP:0001392
39 aplasia/hypoplasia of the corpus callosum 31 occasional (7.5%) HP:0007370
40 macrodactyly 31 occasional (7.5%) HP:0004099
41 pneumothorax 31 occasional (7.5%) HP:0002107
42 chylothorax 31 occasional (7.5%) HP:0010310
43 gingival fibromatosis 31 occasional (7.5%) HP:0000169
44 dental enamel pits 31 occasional (7.5%) HP:0009722
45 dilatation 31 occasional (7.5%) HP:0002617
46 autism 58 31 very rare (1%) Frequent (79-30%) HP:0000717
47 infantile spasms 58 31 very rare (1%) Frequent (79-30%) HP:0012469
48 renal cyst 58 31 Frequent (79-30%) HP:0000107
49 attention deficit hyperactivity disorder 58 31 Occasional (29-5%) HP:0007018
50 specific learning disability 58 31 Frequent (79-30%) HP:0001328

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:
hyperactivity
autism
attention deficit disorder

Cardiovascular Heart:
cardiac rhabdomyoma
wolf-parkinson-white syndrome

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
Neoplasia:
ependymoma
chordoma
renal carcinoma
myocardial rhabdomyoma
multiple bilateral renal angiomyolipoma
more
Genitourinary Kidneys:
renal cysts
tumors of the kidney (may progress to malignancy in less than 2%)

Respiratory Lung:
lymphangiomyomatosis, rare

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

Clinical features from OMIM:

191100

UMLS symptoms related to Tuberous Sclerosis 1:


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

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

26 (show all 37)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.26 MTOR
2 Decreased viability GR00221-A-1 10.26 AKT1 MLST8 MTOR RHEB RPS6KB1
3 Decreased viability GR00221-A-2 10.26 AKT1
4 Decreased viability GR00221-A-3 10.26 AKT1
5 Decreased viability GR00221-A-4 10.26 AKT1 MLST8 MTOR
6 Decreased viability GR00301-A 10.26 RPS6KB1
7 Decreased viability GR00342-S-1 10.26 MTOR
8 Decreased viability GR00342-S-2 10.26 MTOR
9 Decreased viability GR00381-A-1 10.26 RPS6KB1
10 Decreased viability GR00402-S-2 10.26 AKT1 MLST8 MTOR RHEB RPS6KB1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.21 RICTOR
12 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.21 MTOR RHEB
13 Increased shRNA abundance (Z-score > 2) GR00366-A-127 10.21 TSC1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.21 PTEN
15 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.21 PTEN
16 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.21 AKT1 MTOR PTEN RHEB
17 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.21 PTEN
18 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.21 RICTOR
19 Increased shRNA abundance (Z-score > 2) GR00366-A-173 10.21 MTOR RHEB
20 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.21 AKT1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10.21 RICTOR
22 Increased shRNA abundance (Z-score > 2) GR00366-A-211 10.21 RICTOR
23 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.21 PTEN
24 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.21 AKT1 MTOR PTEN RHEB RICTOR TSC1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.21 AKT1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.21 RHEB
27 Increased shRNA abundance (Z-score > 2) GR00366-A-60 10.21 AKT1 MTOR
28 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.21 PTEN RHEB
29 Increased shRNA abundance (Z-score > 2) GR00366-A-70 10.21 AKT1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.21 MTOR
31 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.21 TSC1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.21 AKT1 MTOR
33 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.21 PTEN
34 Decreased viability with paclitaxel GR00179-A-1 9.55 MTOR RPS6KB1
35 Decreased viability with paclitaxel GR00179-A-2 9.55 MTOR
36 Decreased viability with paclitaxel GR00179-A-3 9.55 MTOR RPS6KB1
37 Reduced mammosphere formation GR00396-S 9.28 AKT1S1 COL5A1 EIF4E EIF4EBP1 MTOR PTEN

MGI Mouse Phenotypes related to Tuberous Sclerosis 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.18 AKT1 EIF4E EIF4EBP1 MTOR PTEN RHEB
2 cardiovascular system MP:0005385 10.17 AKT1 COL5A1 EIF4EBP1 MLST8 MTOR PTEN
3 growth/size/body region MP:0005378 10.17 AKT1 COL5A1 DEPTOR EIF4EBP1 MLST8 MTOR
4 embryo MP:0005380 10.15 AKT1 COL5A1 DEPTOR MLST8 MTOR PTEN
5 homeostasis/metabolism MP:0005376 10.07 AKT1 AKT1S1 DEPTOR EIF4EBP1 MTOR PTEN
6 adipose tissue MP:0005375 10 AKT1 EIF4EBP1 MTOR PTEN RICTOR RPS6KB1
7 liver/biliary system MP:0005370 9.76 AKT1 DEPTOR PTEN RICTOR RPS6 RPTOR
8 muscle MP:0005369 9.61 AKT1 EIF4EBP1 MTOR PTEN RHEB RICTOR
9 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 130)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
2
Vigabatrin Approved Phase 4 60643-86-9, 68506-86-5 5665
3 Antimalarials Phase 4
4 Antiprotozoal Agents Phase 4
5 Antiparasitic Agents Phase 4
6 Anticonvulsants Phase 4
7 Neurotransmitter Agents Phase 4
8 GABA Agents Phase 4
9
Topiramate Approved Phase 3 97240-79-4 5284627
10
Phenobarbital Approved, Investigational Phase 3 50-06-6 4763
11
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
12
Clobazam Approved, Illicit Phase 3 22316-47-8 2789
13
Clonazepam Approved, Illicit Phase 3 1622-61-3 2802
14
Carbamazepine Approved, Investigational Phase 3 298-46-4 2554
15
Phenytoin Approved, Vet_approved Phase 3 57-41-0 1775
16
Dronabinol Approved, Illicit Phase 3 1972-08-3 16078
17
Ethanol Approved Phase 3 64-17-5 702
18 Strawberry Approved Phase 3
19
Carvedilol Approved, Investigational Phase 2, Phase 3 72956-09-3 2585
20
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 134070 5280453
21
Melatonin Approved, Nutraceutical, Vet_approved Phase 3 73-31-4 896
22
Calcium Approved, Nutraceutical Phase 2, Phase 3 7440-70-2 271
23 Trace Elements Phase 3
24 Micronutrients Phase 3
25 Vasoconstrictor Agents Phase 3
26 Nutrients Phase 3
27 Vitamins Phase 3
28 Central Nervous System Depressants Phase 3
29 Sunflower Phase 3
30 Pharmaceutical Solutions Phase 3
31 Epidiolex Phase 3
32 Immunologic Factors Phase 2, Phase 3
33 Anti-Infective Agents Phase 2, Phase 3
34 Antibiotics, Antitubercular Phase 2, Phase 3
35 Anti-Bacterial Agents Phase 2, Phase 3
36 Calcium, Dietary Phase 2, Phase 3
37 Antiviral Agents Phase 2, Phase 3
38 Antihypertensive Agents Phase 2, Phase 3
39 Adrenergic Antagonists Phase 2, Phase 3
40 Adrenergic beta-Antagonists Phase 2, Phase 3
41 Vasodilator Agents Phase 2, Phase 3
42 Adrenergic Agents Phase 2, Phase 3
43 Antioxidants Phase 2, Phase 3
44 interferons Phase 2, Phase 3
45 Adrenergic alpha-Antagonists Phase 2, Phase 3
46 Adjuvants, Immunologic Phase 2, Phase 3
47 polysaccharide-K Phase 2, Phase 3
48 calcium channel blockers Phase 2, Phase 3
49 Radiation-Protective Agents Phase 2, Phase 3
50 Interferon Inducers Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 109)
# 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 A Phase II Multi-Center Study of Rapamycin for Treating Kidney Angiomyolipomas in TSC or LAM Patients Unknown status NCT00126672 Phase 2 sirolimus
28 Long Term Follow Up for RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00792766 Phase 1, Phase 2 everolimus (RAD001)
29 Everolimus (RAD001) Therapy for Epilepsy in Patients With Tuberous Sclerosis Complex Completed NCT01070316 Phase 1, Phase 2 Everolimus
30 RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457964 Phase 1, Phase 2 RAD001
31 Everolimus (RAD001)Therapy of Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex Completed NCT00411619 Phase 1, Phase 2 Everolimus
32 Rapalogues for Autism Phenotype in TSC: A Feasibility Study Completed NCT01929642 Phase 2 Sirolimus;Everolimus
33 Phase II Study of Topical Rapamycin to Erase Angiofibromas in TSC-Multicenter Evaluation of a Novel Therapy Completed NCT01526356 Phase 2 Placebo;Rapamycin;Rapamycin
34 A TRIAL OF LETROZOLE IN PULMONARY LYMPHANGIOLEIOMYOMATOSIS Completed NCT01353209 Phase 2 Letrozole;Placebo
35 Randomized Double-Blind Phase 2 Trial Of RAD001 For Neurocognition In Individuals With Tuberous Sclerosis Complex Completed NCT01289912 Phase 2 RAD001;Placebo
36 Phase II Study of Everolimus in Patients With Advanced Solid Malignancies With TSC1, TSC2, NF1, NF2, or STK11 Mutations Completed NCT02352844 Phase 2 Everolimus
37 Rapamycin Therapy of Angiomyolipomas in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457808 Phase 2 Rapamycin, sirolimus
38 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
39 Phase II Study of Everolimus (RAD001, Afinitor®) for Children With Recurrent or Progressive Ependymoma Completed NCT02155920 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 Preventing Epilepsy Using Vigabatrin In Infants With Tuberous Sclerosis Complex (PREVeNT Trial) A Randomized, Double-blind, Placebo-controlled Seizure Prevention Clinical Trial for Infants With TSC Recruiting NCT02849457 Phase 2 Vigabatrin;Placebo
47 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
48 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
49 Safety and Efficacy of Saracatinib In Subjects With Lymphangioleiomyomatosis Recruiting NCT02737202 Phase 2 saracatinib
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, Heart, Lung, Liver, Eye

Publications for Tuberous Sclerosis 1

Articles related to Tuberous Sclerosis 1:

(show top 50) (show all 3486)
# Title Authors PMID Year
1
Non-penetrance in tuberous sclerosis. 24 56 6
1870099 1991
2
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. 61 56 6
9242607 1997
3
TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex. 61 24 56
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 24 6
18830229 2009
6
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. 61 24 56
17304050 2007
7
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. 61 24 6
17120248 2006
8
The tuberous sclerosis complex. 61 24 56
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. 61 24 6
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. 24 56
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. 61 56
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. 61 56
12037687 2002
24
Renal angiomyolipomata and learning difficulty in tuberous sclerosis complex. 61 56
10712110 2000
25
Tuberous Sclerosis Complex 61 6
20301399 1999
26
High rate of mosaicism in tuberous sclerosis complex. 61 56
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. 61 56
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. 61 56
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. 61 6
7823706 1995
37
Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere. 61 56
1415216 1992
38
Early autism symptoms in infants with tuberous sclerosis complex. 61 24
28801991 2017
39
Tumor suppressor Tsc1 is a new Hsp90 co-chaperone that facilitates folding of kinase and non-kinase clients. 61 24
29127155 2017
40
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
41
Self-injury and aggression in adults with tuberous sclerosis complex: Frequency, associated person characteristics, and implications for assessment. 61 24
28411579 2017
42
Influence of seizures on early development in tuberous sclerosis complex. 61 24
28457992 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
Loss of Tuberous Sclerosis Complex 2 (TSC2) as a Predictive Biomarker of Response to mTOR Inhibitor Treatment in Patients with Hepatocellular Carcinoma. 61 24
27751352 2016
48
Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study. 61 24
27613521 2016
49
Symptom profiles of autism spectrum disorder in tuberous sclerosis complex. 61 24
27440144 2016
50
Tuberous sclerosis complex. 61 24
27226234 2016

Variations for Tuberous Sclerosis 1

ClinVar genetic disease variations for Tuberous Sclerosis 1:

6 (show top 50) (show all 2925) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TSC1 NM_000368.4(TSC1):c.2515_2518del (p.Glu839fs)deletion Pathogenic 195458 rs794727320 9:135776209-135776212 9:132900822-132900825
2 TSC1 NM_000368.5(TSC1):c.2675_2676del (p.Arg892fs)deletion Pathogenic 217251 rs118203726 9:135772947-135772948 9:132897560-132897561
3 TSC1 NM_000368.5(TSC1):c.1884_1887AAAG[1] (p.Lys630fs)short repeat Pathogenic 5097 9:135781074-135781077 9:132905687-132905690
4 TSC1 NM_000368.4(TSC1):c.749T>A (p.Leu250Ter)SNV Pathogenic 5098 rs118203447 9:135787833-135787833 9:132912446-132912446
5 TSC1 NM_000368.4(TSC1):c.671T>G (p.Met224Arg)SNV Pathogenic 5104 rs118203426 9:135796816-135796816 9:132921429-132921429
6 TSC1 NM_000368.4(TSC1):c.539T>C (p.Leu180Pro)SNV Pathogenic 5105 rs118203396 9:135797330-135797330 9:132921943-132921943
7 TSC2 NM_000548.5(TSC2):c.4642del (p.Leu1548fs)deletion Pathogenic 12392 rs137854083 16:2135302-2135302 16:2085301-2085301
8 TSC2 NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu)SNV Pathogenic 12393 rs45483392 16:2137898-2137898 16:2087897-2087897
9 TSC2 NM_000548.5(TSC2):c.34A>T (p.Lys12Ter)SNV Pathogenic 12394 rs45512692 16:2098650-2098650 16:2048649-2048649
10 TSC2 NM_000548.5(TSC2):c.2056_2059dup (p.Ser687fs)duplication Pathogenic 12395 rs137854337 16:2121893-2121894 16:2071892-2071893
11 TSC2 NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)SNV Pathogenic 12396 rs45517179 16:2114342-2114342 16:2064341-2064341
12 TSC2 NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)SNV Pathogenic 12397 rs28934872 16:2120572-2120572 16:2070571-2070571
13 TSC2 NM_000548.5(TSC2):c.2150T>G (p.Leu717Arg)SNV Pathogenic 12398 rs45517214 16:2122294-2122294 16:2072293-2072293
14 TSC2 NM_000548.5(TSC2):c.1432C>T (p.Gln478Ter)SNV Pathogenic 12399 rs121964862 16:2113043-2113043 16:2063042-2063042
15 TSC2 NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter)SNV Pathogenic 12400 rs45517148 16:2110791-2110791 16:2060790-2060790
16 TSC2 NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)deletion Pathogenic 12402 rs137854218 16:2138294-2138311 16:2088293-2088310
17 TSC2 NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln)SNV Pathogenic 12403 rs45517259 16:2126143-2126143 16:2076142-2076142
18 TSC2 NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp)SNV Pathogenic 12404 rs45517258 16:2126142-2126142 16:2076141-2076141
19 TSC2 NM_000548.5(TSC2):c.2713C>G (p.Arg905Gly)SNV Pathogenic 12405 rs45517258 16:2126142-2126142 16:2076141-2076141
20 TSC2 NM_000548.5(TSC2):c.2355+2_2355+5deldeletion Pathogenic 12406 rs137854250 16:2122983-2122986 16:2072982-2072985
21 TSC2 NM_000548.5(TSC2):c.1322G>A (p.Trp441Ter)SNV Pathogenic 12407 rs45515894 16:2112562-2112562 16:2062561-2062561
22 TSC1 NM_001162426.2(TSC1):c.1899_1900CA[1] (p.Thr634fs)short repeat Pathogenic 5100 rs118203597 9:135781060-135781061 9:132905673-132905674
23 TSC1 NM_000368.4(TSC1):c.1152del (p.Gly385fs)deletion Pathogenic 48748 rs118203501 9:135786069-135786069 9:132910682-132910682
24 TSC1 NM_000368.4(TSC1):c.1271_1272delGA (p.Arg424Asnfs)short repeat Pathogenic 48756 rs118203509 9:135782749-135782750 9:132907362-132907363
25 TSC1 NM_000368.5(TSC1):c.1257del (p.Arg420fs)deletion Pathogenic 48753 rs118203506 9:135785964-135785964 9:132910577-132910577
26 TSC1 NM_000368.5(TSC1):c.1431_1434del (p.Glu478fs)deletion Pathogenic 48779 rs118203527 9:135782122-135782125 9:132906735-132906738
27 TSC1 NM_000368.4(TSC1):c.1498C>T (p.Arg500Ter)SNV Pathogenic 48791 rs118203537 9:135781467-135781467 9:132906080-132906080
28 TSC1 NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)SNV Pathogenic 48796 rs118203542 9:135781440-135781440 9:132906053-132906053
29 TSC1 NM_000368.5(TSC1):c.1580_1581del (p.Gln527fs)deletion Pathogenic 48805 rs118203550 9:135781384-135781385 9:132905997-132905998
30 TSC1 NM_000368.4(TSC1):c.1697del (p.Pro566fs)deletion Pathogenic 48817 rs118203563 9:135781268-135781268 9:132905881-132905881
31 TSC1 NM_001162426.2(TSC1):c.1705_1706del (p.Arg569fs)deletion Pathogenic 48818 rs118203564 9:135781256-135781257 9:132905869-132905870
32 TSC1 NM_001162426.2(TSC1):c.1902_1903AG[1] (p.Glu635fs)short repeat Pathogenic 48852 rs118203599 9:135781057-135781058 9:132905670-132905671
33 TSC1 NM_000368.5(TSC1):c.1959dup (p.Gln654fs)duplication Pathogenic 48857 rs118203603 9:135781005-135781006 9:132905618-132905619
34 TSC1 NM_000368.4(TSC1):c.1960C>T (p.Gln654Ter)SNV Pathogenic 48858 rs75820036 9:135781005-135781005 9:132905618-132905618
35 TSC1 NM_000368.4(TSC1):c.1963C>T (p.Gln655Ter)SNV Pathogenic 48859 rs118203606 9:135781002-135781002 9:132905615-132905615
36 TSC1 NM_000368.4(TSC1):c.1997+1G>ASNV Pathogenic 48863 rs118203610 9:135780967-135780967 9:132905580-132905580
37 TSC1 NM_001162426.2(TSC1):c.2020del (p.Asp674fs)deletion Pathogenic 48873 rs118203620 9:135779816-135779816 9:132904429-132904429
38 TSC1 NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)SNV Pathogenic 48885 rs118203631 9:135779172-135779172 9:132903785-132903785
39 TSC1 NM_000368.4(TSC1):c.211-1G>ASNV Pathogenic 48902 rs118203353 9:135801127-135801127 9:132925740-132925740
40 TSC1 NM_000368.4(TSC1):c.211-2A>CSNV Pathogenic 48903 rs118203352 9:135801128-135801128 9:132925741-132925741
41 TSC1 NM_001162426.2(TSC1):c.2108_2109del (p.Leu702_Tyr703insTer)deletion Pathogenic 48905 rs118203645 9:135779134-135779135 9:132903747-132903748
42 TSC1 NM_000368.4(TSC1):c.2131C>T (p.Gln711Ter)SNV Pathogenic 48907 rs118203647 9:135779115-135779115 9:132903728-132903728
43 TSC1 NM_000368.4(TSC1):c.2227C>T (p.Gln743Ter)SNV Pathogenic 48921 rs118203661 9:135778156-135778156 9:132902769-132902769
44 TSC1 NM_000368.4(TSC1):c.2249G>A (p.Trp750Ter)SNV Pathogenic 48922 rs118203662 9:135778134-135778134 9:132902747-132902747
45 TSC1 NM_000368.4(TSC1):c.2283C>A (p.Tyr761Ter)SNV Pathogenic 48929 rs118203668 9:135778100-135778100 9:132902713-132902713
46 TSC1 NM_000368.4(TSC1):c.2293C>T (p.Gln765Ter)SNV Pathogenic 48934 rs118203673 9:135778090-135778090 9:132902703-132902703
47 TSC1 NM_000368.4(TSC1):c.2341C>T (p.Gln781Ter)SNV Pathogenic 48941 rs118203680 9:135778042-135778042 9:132902655-132902655
48 TSC1 NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)SNV Pathogenic 48943 rs118203682 9:135778027-135778027 9:132902640-132902640
49 TSC1 NM_000368.4(TSC1):c.2362G>T (p.Glu788Ter)SNV Pathogenic 48946 rs118203685 9:135778021-135778021 9:132902634-132902634
50 TSC1 NM_000368.4(TSC1):c.2401G>T (p.Glu801Ter)SNV Pathogenic 48949 rs118203687 9:135777077-135777077 9:132901690-132901690

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 90)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.28 TSC2 TSC1 RPTOR RPS6KB1 RPS6 RICTOR
2
Show member pathways
13.94 TSC2 TSC1 RPTOR RPS6 RPL7A RICTOR
3
Show member pathways
13.89 TSC2 TSC1 RPTOR RHEB PTEN MTOR
4
Show member pathways
13.79 TSC2 RPS6 RPL7A RICTOR PRR5 MTOR
5
Show member pathways
13.68 TSC2 TSC1 RPTOR RPS6KB1 RPS6 RHEB
6
Show member pathways
13.55 TSC2 TSC1 RPS6KB1 PTEN MTOR EIF4EBP1
7
Show member pathways
13.54 TSC2 RICTOR PTEN PRR5 MTOR MLST8
8
Show member pathways
13.25 TSC2 RICTOR PTEN PRR5 MTOR MLST8
9
Show member pathways
13.24 TSC2 TSC1 RPTOR RHEB MTOR MLST8
10
Show member pathways
13.23 TSC2 TSC1 RPTOR RPS6KB1 RPS6 RICTOR
11
Show member pathways
13.16 TSC2 TSC1 RPTOR RPS6KB1 RPS6 RHEB
12
Show member pathways
13.15 TSC2 TSC1 RPTOR RICTOR RHEB PTEN
13
Show member pathways
13.1 TSC2 TSC1 RPTOR RPS6KB1 RPS6 RHEB
14
Show member pathways
13.07 TSC2 TSC1 RPS6KB1 RHEB MTOR EIF4EBP1
15
Show member pathways
13.02 TSC2 RPS6KB1 RHEB PTEN MTOR AKT1
16
Show member pathways
13 TSC2 RPS6KB1 RHEB PTEN MTOR EIF4EBP1
17
Show member pathways
12.96 RPS6KB1 RPS6 PTEN MTOR EIF4E AKT1
18
Show member pathways
12.92 RPS6KB1 RPS6 MTOR EIF4EBP1 EIF4E AKT1
19 12.91 TSC2 TSC1 RHEB MTOR EIF4EBP1 AKT1
20
Show member pathways
12.91 TSC2 RICTOR PTEN PRR5 MTOR MLST8
21
Show member pathways
12.91 RPTOR PTEN MTOR MLST8 EIF4EBP1 EIF4E
22
Show member pathways
12.84 RPS6KB1 RPS6 PTEN MTOR AKT1
23
Show member pathways
12.8 TSC2 TSC1 RPS6KB1 PTEN MTOR AKT1
24
Show member pathways
12.79 RPS6KB1 RPS6 PTEN MTOR EIF4EBP1 EIF4E
25
Show member pathways
12.74 TSC2 RPS6KB1 RHEB MTOR AKT1
26
Show member pathways
12.67 RPS6KB1 RPS6 PTEN MTOR EIF4EBP1 EIF4E
27
Show member pathways
12.65 TSC2 TSC1 RPTOR RPS6KB1 RPS6 RHEB
28
Show member pathways
12.61 TSC2 TSC1 RPS6KB1 RPS6 RHEB PTEN
29
Show member pathways
12.6 TSC2 TSC1 RPS6KB1 RHEB MTOR EIF4EBP1
30
Show member pathways
12.58 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
31
Show member pathways
12.52 TSC2 TSC1 RPS6KB1 RPS6 MTOR EIF4EBP1
32 12.51 RPTOR RPS6KB1 MTOR AKT1S1 AKT1
33
Show member pathways
12.5 TSC2 TSC1 RPTOR RPS6KB1 RPS6 RICTOR
34
Show member pathways
12.47 RPS6KB1 MTOR EIF4EBP1 EIF4E AKT1
35
Show member pathways
12.46 RPS6KB1 PTEN MTOR AKT1S1 AKT1
36
Show member pathways
12.43 TSC2 TSC1 RPTOR RPS6KB1 MTOR EIF4EBP1
37 12.43 TSC2 TSC1 RPTOR RPS6KB1 RPS6 RPL7A
38 12.39 TSC2 TSC1 RHEB PTEN MTOR EIF4EBP1
39 12.38 RPS6KB1 RICTOR PTEN MTOR EIF4EBP1 AKT1
40 12.37 RPS6KB1 RPS6 MTOR AKT1
41
Show member pathways
12.35 RICTOR PRR5 MTOR MLST8 AKT1
42 12.35 TSC2 TSC1 RHEB PTEN MTOR AKT1
43
Show member pathways
12.33 TSC2 TSC1 RPTOR RHEB MTOR MLST8
44 12.33 TSC2 RPS6KB1 RPS6 MTOR EIF4EBP1 EIF4E
45
Show member pathways
12.32 TSC2 TSC1 RPTOR RPS6KB1 RPS6 RICTOR
46
Show member pathways
12.31 RPS6 RICTOR MTOR AKT1
47
Show member pathways
12.31 TSC2 RPS6KB1 PTEN MTOR EIF4EBP1 AKT1
48
Show member pathways
12.31 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
49
Show member pathways
12.29 RPTOR MTOR MLST8 AKT1S1
50 12.28 TSC2 TSC1 RPTOR RPS6KB1 RHEB PTEN

GO Terms for Tuberous Sclerosis 1

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.25 TSC2 TSC1 RPTOR RPS6KB1 RPS6 RPL7A
2 cytosol GO:0005829 10.16 TSC2 TSC1 RPTOR RPS6KB1 RPS6 RPL7A
3 protein-containing complex GO:0032991 9.85 TSC1 MTOR EIF4EBP1 EIF4E AKT1S1 AKT1
4 postsynaptic cytosol GO:0099524 9.46 PTEN MTOR EIF4EBP1 EIF4E
5 TSC1-TSC2 complex GO:0033596 9.32 TSC2 TSC1
6 TORC2 complex GO:0031932 9.26 RICTOR PRR5 MTOR MLST8
7 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 41)
# Name GO ID Score Top Affiliating Genes
1 peptidyl-serine phosphorylation GO:0018105 9.92 RPS6KB1 RICTOR MTOR AKT1
2 cell cycle arrest GO:0007050 9.91 RPTOR RHEB MTOR MLST8
3 cellular response to hypoxia GO:0071456 9.89 PTEN MTOR EIF4EBP1 AKT1
4 regulation of translation GO:0006417 9.88 TSC1 RPS6KB1 EIF4EBP1 EIF4E AKT1
5 cellular response to insulin stimulus GO:0032869 9.86 RPS6KB1 PTEN AKT1
6 G1/S transition of mitotic cell cycle GO:0000082 9.86 RPS6KB1 RPS6 EIF4EBP1 EIF4E
7 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.85 RICTOR MTOR MLST8
8 negative regulation of protein kinase activity GO:0006469 9.85 TSC2 DEPTOR AKT1S1 AKT1
9 regulation of GTPase activity GO:0043087 9.84 RICTOR MTOR MLST8
10 response to nutrient GO:0007584 9.84 RPS6KB1 PTEN MTOR
11 regulation of cellular response to heat GO:1900034 9.84 RPTOR MTOR MLST8 AKT1S1
12 negative regulation of translation GO:0017148 9.83 TSC1 EIF4EBP1 EIF4E
13 regulation of actin cytoskeleton organization GO:0032956 9.83 RICTOR MTOR MLST8
14 regulation of macroautophagy GO:0016241 9.83 RPTOR RHEB MTOR MLST8
15 negative regulation of protein kinase B signaling GO:0051898 9.81 TSC2 PTEN AKT1
16 positive regulation of smooth muscle cell proliferation GO:0048661 9.81 RPS6KB1 MTOR AKT1
17 negative regulation of autophagy GO:0010507 9.8 MTOR EIF4E AKT1
18 germ cell development GO:0007281 9.77 RPS6KB1 MTOR AKT1
19 negative regulation of insulin receptor signaling pathway GO:0046627 9.76 TSC2 TSC1 RPS6KB1
20 positive regulation of actin filament polymerization GO:0030838 9.76 RICTOR MTOR MLST8 CCL26
21 cellular response to dexamethasone stimulus GO:0071549 9.75 RPS6KB1 EIF4EBP1 EIF4E
22 positive regulation of mitotic cell cycle GO:0045931 9.74 RPS6KB1 EIF4EBP1 EIF4E
23 protein kinase B signaling GO:0043491 9.73 TSC2 RPS6KB1 PTEN AKT1
24 negative regulation of macroautophagy GO:0016242 9.69 TSC1 MTOR AKT1
25 regulation of protein kinase B signaling GO:0051896 9.68 RICTOR MTOR
26 insulin-like growth factor receptor signaling pathway GO:0048009 9.68 TSC2 AKT1
27 cellular response to nutrient levels GO:0031669 9.68 RPTOR MTOR
28 positive regulation of lipid biosynthetic process GO:0046889 9.67 MTOR AKT1
29 anoikis GO:0043276 9.67 TSC2 MTOR AKT1
30 positive regulation of TOR signaling GO:0032008 9.67 RPTOR RICTOR RHEB MLST8
31 cellular response to leucine GO:0071233 9.65 RPTOR MTOR
32 positive regulation of transcription by RNA polymerase III GO:0045945 9.65 RPTOR MTOR
33 positive regulation of endothelial cell proliferation GO:0001938 9.65 RPTOR RICTOR MTOR CCL26 AKT1
34 regulation of glycogen biosynthetic process GO:0005979 9.64 MTOR AKT1
35 cellular response to decreased oxygen levels GO:0036294 9.62 PTEN AKT1
36 negative regulation of TOR signaling GO:0032007 9.62 TSC2 TSC1 DEPTOR AKT1S1
37 activation-induced cell death of T cells GO:0006924 9.61 RPS6 AKT1
38 TORC1 signaling GO:0038202 9.58 RPTOR MTOR MLST8
39 activation of protein kinase B activity GO:0032148 9.55 RICTOR PRR5 MTOR MLST8 AKT1
40 negative regulation of cell size GO:0045792 9.43 TSC1 PTEN MTOR DEPTOR AKT1S1 AKT1
41 TOR signaling GO:0031929 9.23 RPTOR RPS6KB1 RPS6 RICTOR MTOR MLST8

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 9.62 TSC2 TSC1 SERPINA3 RPTOR RPS6KB1 RPS6
2 protein phosphatase 2A binding GO:0051721 9.54 RPS6KB1 EIF4EBP1 AKT1
3 protein kinase binding GO:0019901 9.5 RPTOR RPS6 RICTOR RHEB PTEN MTOR
4 RNA polymerase III type 3 promoter DNA binding GO:0001032 9.4 RPTOR MTOR
5 TFIIIC-class transcription factor complex binding GO:0001156 9.32 RPTOR MTOR
6 RNA polymerase III type 2 promoter DNA binding GO:0001031 9.26 RPTOR MTOR
7 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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