MCID: TBR024
MIFTS: 55

Tuberous Sclerosis-1

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

Aliases & Classifications for Tuberous Sclerosis-1

MalaCards integrated aliases for Tuberous Sclerosis-1:

Name: Tuberous Sclerosis-1 54 13
Tuberous Sclerosis Complex 23 24 25 56 71
Bourneville Syndrome 50 56 71
Tuberous Sclerosis 1 71 29 69
Bourneville Disease 23 24 25
Tuberous Sclerosis 56 71 69
Epiloia 24 25
Bourneville Pringle Syndrome 24
Tuberous Sclerosis, Type 1 50
Bourneville Phakomatosis 25
Bourneville's Syndrome 50
Bourneville's Disease 24
Cerebral Sclerosis 25
Tuberose Sclerosis 25
Sclerosis Tuberosa 25
Phakomatosis Ts 24
Tsc1 71
Ts 71

Characteristics:

Orphanet epidemiological data:

56
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:

54
Inheritance:
autosomal dominant

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


HPO:

32
tuberous sclerosis-1:
Onset and clinical course phenotypic variability
Inheritance heterogeneous autosomal dominant inheritance


GeneReviews:

23
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:



Summaries for Tuberous Sclerosis-1

OMIM : 54
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). Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section). (191100)

MalaCards based summary : Tuberous Sclerosis-1, also known as tuberous sclerosis complex, is related to tuberous sclerosis and polycystic kidney disease, infantile severe, with tuberous sclerosis, and has symptoms including optic atrophy, seizures and global developmental delay. An important gene associated with Tuberous Sclerosis-1 is TSC1 (Tuberous Sclerosis 1), and among its related pathways/superpathways are Integrated Breast Cancer Pathway and Longevity regulating pathway. The drugs Everolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and brain.

UniProtKB/Swiss-Prot : 71 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.

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.

GeneReviews: NBK1220

Related Diseases for Tuberous Sclerosis-1

Diseases in the Tuberous Sclerosis family:

Tuberous Sclerosis-1

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

(show all 37)
id Related Disease Score Top Affiliating Genes
1 tuberous sclerosis 12.7
2 polycystic kidney disease, infantile severe, with tuberous sclerosis 12.4
3 sudanophilic cerebral sclerosis 11.9
4 cerebral sclerosis similar to pelizaeus-merzbacher disease 11.8
5 gilles de la tourette syndrome 11.7
6 turner syndrome 11.6
7 virus-associated trichodysplasia spinulosa 11.5
8 metachromatic leukodystrophy 11.1
9 adrenoleukodystrophy 11.1
10 tsc2 angiomyolipomas, renal, modifier of 11.1
11 trichostasis spinulosa 10.9
12 timothy syndrome 10.9
13 mitochondrial dna depletion syndrome 4a 10.8
14 buschke-ollendorff syndrome 10.2 TSC1 TSC2
15 focal cortical dysplasia, type ii, somatic 10.2 TSC1 TSC2
16 clear cell adenocarcinoma 10.2 TSC1 TSC2
17 cauda equina intradural extramedullary astrocytoma 10.2 TSC1 TSC2
18 colloid adenoma 10.2 TSC1 TSC2
19 cauda equina neoplasm 10.2 TSC1 TSC2
20 recombinant 8 syndrome 10.1 TSC1 TSC2
21 gallbladder papillomatosis 10.1 TSC1 TSC2
22 mixed epithelial stromal tumour 10.1 TSC1 TSC2
23 buruli ulcer 10.1 TSC1 TSC2
24 sternum cancer 10.1 TSC1 TSC2
25 autonomic dysfunction 10.0 CCL26 TSC2
26 bleeding disorder, platelet-type, 13 10.0 TSC1 TSC2
27 congenital heart defects and skeletal malformations syndrome 10.0 TSC1 TSC2
28 viral encephalitis 9.9 TSC1 TSC2
29 spondylosis 9.9 TSC1 TSC2
30 autoimmune-related retinopathy and optic neuropathy 9.9 TSC1 TSC2
31 cervix uteri carcinoma in situ 9.8 TSC1 TSC2
32 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.6 CCL26 TSC1 TSC2
33 gangliosidosis gm2 9.6 CCL26 TSC1 TSC2
34 benign struma ovarii 9.6 CCL26 TSC1 TSC2
35 tetanus neonatorum 9.6 CCL26 TSC1 TSC2
36 bullous skin disease 9.6 TSC1 TSC2
37 lymphangioleiomyomatosis 8.3 CCL26 COL5A1 RPL7A TSC1 TSC2

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



Diseases related to Tuberous Sclerosis-1

Symptoms & Phenotypes for Tuberous Sclerosis-1

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
seizures
learning difficulties
hamartomatous lesions of the brain
subependymal nodules
cortical tubers
more
Skin Nails & Hair- Skin:
cafe-au-lait spots
facial angiofibroma (adenoma sebaceum)
white ash leaf-shaped macules
shagreen patch
subcutaneous nodules
more
Endocrine Features:
hypothyroidism
precocious puberty

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

Cardiovascular- Heart:
wolf-parkinson-white syndrome
cardiac rhabdomyoma

Skeletal:
cystic areas of bone rarefaction, esp. phalanges

Neurologic- Behavioral Psychiatric Manifestations:
hyperactivity
autism
attention deficit disorder

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

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

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

Human phenotypes related to Tuberous Sclerosis-1:

56 32 (show top 50) (show all 68)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0000648
2 seizures 56 32 frequent (33%) Frequent (79-30%) HP:0001250
3 global developmental delay 56 32 frequent (33%) Frequent (79-30%) HP:0001263
4 renal insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0000083
5 iris coloboma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000612
6 intellectual disability 56 32 very rare (1%) Frequent (79-30%) HP:0001249
7 arrhythmia 56 32 occasional (7.5%) Occasional (29-5%) HP:0011675
8 congestive heart failure 56 32 occasional (7.5%) Occasional (29-5%) HP:0001635
9 respiratory insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0002093
10 gingival fibromatosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000169
11 gingivitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000230
12 hypothyroidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000821
13 prominent occiput 56 32 hallmark (90%) Very frequent (99-80%) HP:0000269
14 cortical dysplasia 56 32 frequent (33%) Frequent (79-30%) HP:0002539
15 multiple renal cysts 56 32 occasional (7.5%) Occasional (29-5%) HP:0005562
16 hypopigmented skin patches 56 32 frequent (33%) Frequent (79-30%) HP:0001053
17 nevus flammeus 56 32 frequent (33%) Frequent (79-30%) HP:0001052
18 macrodactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0004099
19 precocious puberty 56 32 occasional (7.5%) Occasional (29-5%) HP:0000826
20 cerebral calcification 56 32 occasional (7.5%) Occasional (29-5%) HP:0002514
21 emphysema 56 32 occasional (7.5%) Occasional (29-5%) HP:0002097
22 skin tags 56 32 hallmark (90%) Very frequent (99-80%) HP:0010609
23 increased intracranial pressure 56 32 occasional (7.5%) Occasional (29-5%) HP:0002516
24 achromatic retinal patches 56 32 frequent (33%) Frequent (79-30%) HP:0009727
25 cardiac rhabdomyoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0009729
26 shagreen patch 56 32 frequent (33%) Frequent (79-30%) HP:0009721
27 subependymal nodules 56 32 hallmark (90%) Very frequent (99-80%) HP:0009716
28 confetti-like hypopigmented macules 56 32 frequent (33%) Frequent (79-30%) HP:0007449
29 renal angiomyolipoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0006772
30 pneumothorax 56 32 occasional (7.5%) Occasional (29-5%) HP:0002107
31 chylothorax 56 32 occasional (7.5%) Occasional (29-5%) HP:0010310
32 multiple cafe-au-lait spots 56 32 frequent (33%) Frequent (79-30%) HP:0007565
33 retinal hamartoma 56 32 frequent (33%) Frequent (79-30%) HP:0009594
34 eeg abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0002353
35 behavioral abnormality 56 32 frequent (33%) Frequent (79-30%) HP:0000708
36 angiofibromas 56 32 hallmark (90%) Very frequent (99-80%) HP:0010615
37 papule 56 32 hallmark (90%) Very frequent (99-80%) HP:0200034
38 neoplasm of the pancreas 56 32 occasional (7.5%) Occasional (29-5%) HP:0002894
39 abnormality of the respiratory system 56 32 Occasional (29-5%) HP:0002086
40 abnormality of the liver 56 32 occasional (7.5%) Occasional (29-5%) HP:0001392
41 aplasia/hypoplasia of the corpus callosum 56 32 occasional (7.5%) Occasional (29-5%) HP:0007370
42 subependymal giant-cell astrocytoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0009718
43 dental enamel pits 56 32 occasional (7.5%) Occasional (29-5%) HP:0009722
44 pulmonary lymphangiomyomatosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0012798
45 ungual fibroma 56 32 hallmark (90%) Very frequent (99-80%) HP:0100804
46 autism 32 HP:0000717
47 ependymoma 32 HP:0002888
48 astrocytoma 32 HP:0009592
49 premature chromatid separation 32 HP:0200024
50 cortical tubers 32 HP:0009717

UMLS symptoms related to Tuberous Sclerosis-1:


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

Drugs & Therapeutics for Tuberous Sclerosis-1

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

(show top 50) (show all 96)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 4,Phase 2,Phase 3,Phase 1 159351-69-6 6442177
2
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 53123-88-9 5284616 6436030 46835353
4
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
5
Vigabatrin Approved Phase 4,Phase 2 68506-86-5, 60643-86-9 5665
6 Anti-Bacterial Agents Phase 4,Phase 2,Phase 3,Phase 1
7 Antibiotics, Antitubercular Phase 4,Phase 2,Phase 3,Phase 1
8 Antifungal Agents Phase 4,Phase 2,Phase 3,Phase 1
9 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
10 Immunosuppressive Agents Phase 4,Phase 2,Phase 3,Phase 1
11 Neurotransmitter Agents Phase 4,Phase 2
12 Antimalarials Phase 4
13 Antiparasitic Agents Phase 4
14 Antiprotozoal Agents Phase 4
15 Anticonvulsants Phase 4,Phase 2
16 GABA Agents Phase 4,Phase 2
17
Ethanol Approved Phase 3 64-17-5 702
18
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 134070 5280453
19
Melatonin Approved, Nutraceutical, Vet_approved Phase 3,Phase 1 73-31-4 896
20 Strawberry Approved, Nutraceutical Phase 3
21 Bone Density Conservation Agents Phase 3
22 Calcium, Dietary Phase 3
23 Micronutrients Phase 3
24 Trace Elements Phase 3
25 Vasoconstrictor Agents Phase 3
26 Vitamins Phase 3
27 Pharmaceutical Solutions Phase 3,Phase 2
28 Antioxidants Phase 3,Phase 1
29 Central Nervous System Depressants Phase 3,Phase 1
30 Protective Agents Phase 3,Phase 1
31
Propranolol Approved, Investigational Phase 2 525-66-6 4946
32
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
33
Metformin Approved Phase 2 657-24-9 14219 4091
34
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
35
Simvastatin Approved Phase 1, Phase 2 79902-63-9 54454
36
Olaparib Approved Phase 2 763113-22-0 23725625
37
Adenosine Approved, Investigational Phase 2 58-61-7 60961
38
Crizotinib Approved Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
39
Dabrafenib Approved Phase 2 44462760 44516822
40
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
41
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
42
nivolumab Approved Phase 2 946414-94-4
43
Osimertinib Approved Phase 2 1421373-65-0 71496458
44
Palbociclib Approved Phase 2 571190-30-2 11431660 5005498 5330286
45
Pertuzumab Approved Phase 2 145040-37-5, 380610-27-5 2540
46 Racepinephrine Approved Phase 2
47
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
48
Trametinib Approved Phase 2 871700-17-3 11707110
49
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
50
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563

Interventional clinical trials:

(show top 50) (show all 71)

id Name Status NCT ID Phase Drugs
1 Rapamycin In Angiomyolipomas In Patients With Tuberous Sclerosis Completed NCT01217125 Phase 4 Sirolimus
2 Doxycycline In Lymphangioleiomyomatosis (LAM) Completed NCT00989742 Phase 4 Doxycycline;Placebo
3 Long-term Follow-up for Growth and Development of Pediatric Patients From CRAD001M2301 Active, not recruiting NCT02338609 Phase 4 Everolimus;Envirolimus drug class as prescribed by Physician
4 Sabril for Complex Partial Seizures in Adult Tolerability Study (TS) Patients Terminated NCT01266291 Phase 4 vigabatrin
5 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
6 Efficacy and Safety of Everolimus (RAD001) in Patients of All Ages With Subependymal Giant Cell Astrocytoma Associated With Tuberous Sclerosis Complex (TSC)(EXIST-1) Completed NCT00789828 Phase 3 Everolimus;Placebo
7 Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00790400 Phase 3 Everolimus (RAD001);Everolimus Placebo
8 Phase III Trial of Topical Formulation of Sirolimus to Skin Lesions in Patients With Tuberous Sclerosis Complex (TSC) Completed NCT02635789 Phase 3 NPC-12G gel;Placebo gel
9 Topical Rapamycin and Calcitriol for Angiofibroma of Tuberous Sclerosis Completed NCT03140449 Phase 3 Rapamycin;Calcitriol;Rapamycin-calcitriol combination
10 A Randomized Controlled Trial of Cannabidiol (GWP42003-P, CBD) for Seizures in Tuberous Sclerosis Complex (GWPCARE6) Recruiting NCT02544763 Phase 3 GWP42003-P;Placebo
11 Roll-over Study to Collect and Assess Long-term Safety of Everolimus in Patients With TSC and Refractory Seizures Who Have Completed the EXIST-3 Study [CRAD001M2304] and Who Are Benefitting From Continued Treatment Recruiting NCT02962414 Phase 3 everolimus
12 A Placebo-controlled Study of Efficacy & Safety of 2 Trough-ranges of Everolimus as Adjunctive Therapy in Patients With Tuberous Sclerosis Complex (TSC) & Refractory Partial-onset Seizures Active, not recruiting NCT01713946 Phase 3 RAD001;Placebo
13 Efficacy and Safety of Circadin® in the Treatment of Sleep Disturbances in Children With Neurodevelopment Disabilities Active, not recruiting NCT01906866 Phase 3 Circadin 2/5/10 mg;Placebo
14 An Open-label Extension Trial of Cannabidiol (GWP42003-P, CBD) for Seizures in Tuberous Sclerosis Complex (GWPCARE6) Enrolling by invitation NCT02544750 Phase 3 GWP42003-P
15 Long-term Trial of Topical Sirolimus to Angiofibroma in Patient With Tuberous Sclerosis Complex Not yet recruiting NCT02634931 Phase 3 NPC-12G gel
16 Topical Everolimus in Patients With Tuberous Sclerosis Complex Not yet recruiting NCT02860494 Phase 2, Phase 3 Everolimus;Placebo
17 Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers Unknown status NCT02104011 Phase 2 Propranolol
18 Trial of Efficacy and Safety of Sirolimus in Tuberous Sclerosis and LAM Unknown status NCT00490789 Phase 2 sirolimus
19 Single Arm Trial With Combination of Everolimus and Letrozole in Treatment of Platinum Resistant Relapse or Refractory or Persistent Ovarian Cancer/Endometrial Cancer Unknown status NCT02188550 Phase 2 everolimus and letrozole
20 Activity and Safety of Everolimus+Octreotide LAR+Metformin in Advanced Pancreatic Well-differentiated NETs Unknown status NCT02294006 Phase 2 Everolimus plus Octreotide LAR plus Metformin
21 Sirolimus in Treating Patients With Angiomyolipoma of the Kidney Unknown status NCT00126672 Phase 2 sirolimus
22 Rapamycin Therapy for Patients With Tuberous Sclerosis Complex and Sporadic LAM Completed NCT00457808 Phase 2 Rapamycin, sirolimus
23 Trial of RAD001 and Neurocognition in Tuberous Sclerosis Complex (TSC) Completed NCT01289912 Phase 2 RAD001
24 Everolimus (RAD001) Therapy of Giant Cell Astrocytoma in Patients With Tuberous Sclerosis Complex Completed NCT00411619 Phase 1, Phase 2 Everolimus
25 Everolimus (RAD001) Therapy for Epilepsy in Patients With Tuberous Sclerosis Complex (TSC) Completed NCT01070316 Phase 1, Phase 2 Everolimus
26 Long Term Follow Up for RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis (TSC) and Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00792766 Phase 1, Phase 2 everolimus (RAD001)
27 RAD001 Therapy of Angiomyolipomata in Patients With TS Complex and Sporadic LAM Completed NCT00457964 Phase 1, Phase 2 RAD001
28 Topical Rapamycin to Erase Angiofibromas in TSC Completed NCT01526356 Phase 2 Placebo;Rapamycin;Rapamycin
29 Rapalogues for Autism Phenotype in TSC: A Feasibility Study Completed NCT01929642 Phase 2 Sirolimus;Everolimus
30 A Study of Everolimus in the Treatment of Neurocognitive Problems in Tuberous Sclerosis Recruiting NCT01954693 Phase 2 Placebo;Everolimus (RAD001)
31 Everolimus for Cancer With TSC1 or TSC2 Mutation Recruiting NCT02201212 Phase 2 Everolimus
32 Preventing Epilepsy Using Vigabatrin In Infants With Tuberous Sclerosis Complex Recruiting NCT02849457 Phase 2 Vigabatrin;Placebo
33 Sapanisertib in Treating Patients With Locally Advanced or Metastatic Bladder Cancer With TSC1 and/or TSC2 Mutations Recruiting NCT03047213 Phase 2 Sapanisertib
34 Safety of Simvastatin in LAM and TSC Recruiting NCT02061397 Phase 1, Phase 2 Simvastatin
35 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
36 OLAParib COmbinations Recruiting NCT02576444 Phase 2 AZD2281;AZD5363;AZD1775;AZD2014
37 Pediatric MATCH: PI3K/mTOR Inhibitor LY3023414 in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With TSC or PI3K/MTOR Mutations Recruiting NCT03213678 Phase 2 PI3K/mTOR Inhibitor LY3023414
38 NCI-MATCH: Targeted Therapy Directed by Genetic Testing in Treating Patients With Advanced Refractory Solid Tumors, Lymphomas, or Multiple Myeloma Recruiting NCT02465060 Phase 2 Afatinib;Akt inhibitor AZD5363;Binimetinib;Crizotinib;Dabrafenib;Dasatinib;Defactinib;FGFR Inhibitor AZD4547;Larotrectinib;Osimertinib;Palbociclib;PI3K-beta Inhibitor GSK2636771;Sapanisertib;Sunitinib Malate;Taselisib;Trametinib;Vismodegib;WEE1 Inhibitor AZD1775
39 Pediatric MATCH: Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders Recruiting NCT03155620 Phase 2 Ensartinib;Erdafitinib;Larotrectinib;Olaparib;PI3K/mTOR Inhibitor LY3023414;Selumetinib Sulfate;Tazemetostat;Vemurafenib
40 Adapting Treatment to the Tumor Molecular Alterations for Patients With Advanced Solid Tumors: My Own Specific Treatment Recruiting NCT02029001 Phase 2 Nilotinib (400 mg BID);Everolimus (10 mg QD);Sorafenib (400 mg BID);Lapatinib (1500 mg QD);Pazopanib (800 mg QD)
41 Everolimus in Patients With Advanced Solid Malignancies With TSC1, TSC2, NF1, NF2, or STK11 Mutations Active, not recruiting NCT02352844 Phase 2 Everolimus
42 Phase II Trial of AZD2014 in TSC1/2 Mutated or TSC1/2 Null GC Patients as Second-line Chemotherapy Active, not recruiting NCT03082833 Phase 2 AZD2014
43 Phase II Trial of Vistusertib(AZD2014) Single Agent in TSC1or 2 Null or TSC 1/2 Mutation Solid Cancer Patients Refractory to Standard Chemotherapy Not yet recruiting NCT03166176 Phase 2 Vistusertib(AZD2014)
44 Canadian Profiling and Targeted Agent Utilization Trial (CAPTUR) Not yet recruiting NCT03297606 Phase 2 Olaparib;Dasatinib;Nivolumab plus Ipilimumab;Afatinib;Axitinib;Bosutinib;Crizotinib;Palbociclib;Sunitinib;Temsirolimus;Erlotinib;Trastuzumab plus Pertuzumab;Vemurafenib plus Cobimetinib;Vismodegib
45 A Phase II Study of Orally Administered BEZ235 Monotherapy in Patients With Metastatic or Unresectable Malignant PEComa Withdrawn NCT01690871 Phase 2 BEZ235
46 Topical Rapamycin Therapy to Alleviate Cutaneous Manifestations of Tuberous Sclerosis Complex (TSC) and Neurofibromatosis I (NF1) Completed NCT01031901 Phase 1 Skincerity;Skincerity plus sirolimus/rapamycin;Skinercity plus sirolimus/rapamycin
47 Tuberous Sclerosis Complex: Facial Angiofibroma Skin Cream Completed NCT01853423 Phase 1 Rapamune
48 Assessment of the Pharmacokinetics of Circadin® in Children With Neurodevelopmental Disorders and Sleep Disturbances Completed NCT01903681 Phase 1 Circadin 2 mg;Circadin 10 mg
49 A Phase I Study of BKM120 and Everolimus in Advanced Solid Malignancies Active, not recruiting NCT01470209 Phase 1 BKM120;Everolimus
50 The Cognitive Variability in NF1 and TSC Monozygotic Twins Unknown status NCT02436746

Search NIH Clinical Center for Tuberous Sclerosis-1

Genetic Tests for Tuberous Sclerosis-1

Genetic tests related to Tuberous Sclerosis-1:

id Genetic test Affiliating Genes
1 Tuberous Sclerosis 1 29 24 TSC1
2 Tuberous Sclerosis Complex 24 TSC2

Anatomical Context for Tuberous Sclerosis-1

MalaCards organs/tissues related to Tuberous Sclerosis-1:

39
Skin, Kidney, Brain, Heart, Lung, Testes, Bone

Publications for Tuberous Sclerosis-1

Articles related to Tuberous Sclerosis-1:

id Title Authors Year
1
The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination. ( 11175345 )
2000

Variations for Tuberous Sclerosis-1

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

71
id 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

ClinVar genetic disease variations for Tuberous Sclerosis-1:

6 (show top 50) (show all 197)
id Gene Variation Type Significance SNP ID Assembly Location
1 TSC1 NM_000368.4(TSC1): c.1888_1891delAAAG (p.Lys630Glnfs) deletion Pathogenic rs118203595 GRCh37 Chromosome 9, 135781074: 135781077
2 TSC1 NM_000368.4(TSC1): c.749T> A (p.Leu250Ter) single nucleotide variant Pathogenic rs118203447 GRCh37 Chromosome 9, 135787833: 135787833
3 TSC1 NM_000368.4(TSC1): c.1904_1905delCA (p.Thr635Argfs) deletion Pathogenic rs118203597 GRCh37 Chromosome 9, 135781060: 135781061
4 TSC1 NM_000368.4(TSC1): c.671T> G (p.Met224Arg) single nucleotide variant Pathogenic rs118203426 GRCh37 Chromosome 9, 135796816: 135796816
5 TSC1 NM_000368.4(TSC1): c.539T> C (p.Leu180Pro) single nucleotide variant Pathogenic rs118203396 GRCh37 Chromosome 9, 135797330: 135797330
6 TSC2 NM_000548.4(TSC2): c.4642delC (p.Leu1548Cysfs) deletion Pathogenic rs137854083 GRCh37 Chromosome 16, 2135303: 2135303
7 TSC2 NM_000548.4(TSC2): c.5024C> T (p.Pro1675Leu) single nucleotide variant Pathogenic rs45483392 GRCh37 Chromosome 16, 2137898: 2137898
8 TSC2 NM_000548.4(TSC2): c.34A> T (p.Lys12Ter) single nucleotide variant Pathogenic rs45512692 GRCh37 Chromosome 16, 2098650: 2098650
9 TSC2 NM_000548.4(TSC2): c.2056_2059dupTACT (p.Ser687Leufs) duplication Pathogenic rs137854337 GRCh37 Chromosome 16, 2121894: 2121897
10 TSC2 NM_000548.4(TSC2): c.1513C> T (p.Arg505Ter) single nucleotide variant Pathogenic rs45517179 GRCh37 Chromosome 16, 2114342: 2114342
11 TSC2 NM_000548.4(TSC2): c.1832G> A (p.Arg611Gln) single nucleotide variant Pathogenic rs28934872 GRCh37 Chromosome 16, 2120572: 2120572
12 TSC2 NM_000548.4(TSC2): c.2150T> G (p.Leu717Arg) single nucleotide variant Pathogenic rs45517214 GRCh37 Chromosome 16, 2122294: 2122294
13 TSC2 NM_000548.4(TSC2): c.1432C> T (p.Gln478Ter) single nucleotide variant Pathogenic rs121964862 GRCh37 Chromosome 16, 2113043: 2113043
14 TSC2 NM_000548.4(TSC2): c.1096G> T (p.Glu366Ter) single nucleotide variant Pathogenic rs45517148 GRCh37 Chromosome 16, 2110791: 2110791
15 TSC2 NM_000548.4(TSC2): c.4508A> C (p.Gln1503Pro) single nucleotide variant Pathogenic rs45516293 GRCh37 Chromosome 16, 2134966: 2134966
16 TSC2 NM_000548.4(TSC2): c.5238_5255del18 (p.His1746_Arg1751del) deletion Pathogenic rs137854218 GRCh37 Chromosome 16, 2138305: 2138322
17 TSC2 NM_000548.4(TSC2): c.2714G> A (p.Arg905Gln) single nucleotide variant Pathogenic rs45517259 GRCh37 Chromosome 16, 2126143: 2126143
18 TSC2 NM_000548.4(TSC2): c.2713C> T (p.Arg905Trp) single nucleotide variant Pathogenic rs45517258 GRCh37 Chromosome 16, 2126142: 2126142
19 TSC2 NM_000548.4(TSC2): c.2713C> G (p.Arg905Gly) single nucleotide variant Pathogenic rs45517258 GRCh37 Chromosome 16, 2126142: 2126142
20 TSC2 NM_000548.4(TSC2): c.2355+2_2355+5delTAGG deletion Pathogenic rs137854250 GRCh37 Chromosome 16, 2122986: 2122989
21 TSC2 NM_000548.4(TSC2): c.1322G> A (p.Trp441Ter) single nucleotide variant Pathogenic rs45515894 GRCh37 Chromosome 16, 2112562: 2112562
22 TSC1 NM_000368.4(TSC1): c.1152delA (p.Gly385Glufs) deletion Pathogenic rs118203501 GRCh37 Chromosome 9, 135786069: 135786069
23 TSC1 NM_000368.4(TSC1): c.1257delC (p.Arg420Glyfs) deletion Pathogenic rs118203506 GRCh37 Chromosome 9, 135785964: 135785964
24 TSC1 NM_000368.4(TSC1): c.1431_1434delAGAA (p.Glu478Lysfs) deletion Pathogenic rs118203527 GRCh37 Chromosome 9, 135782122: 135782125
25 TSC1 NM_000368.4(TSC1): c.1498C> T (p.Arg500Ter) single nucleotide variant Pathogenic rs118203537 GRCh37 Chromosome 9, 135781467: 135781467
26 TSC1 NM_000368.4(TSC1): c.1525C> T (p.Arg509Ter) single nucleotide variant Pathogenic rs118203542 GRCh37 Chromosome 9, 135781440: 135781440
27 TSC1 NM_000368.4(TSC1): c.1580_1581delAG (p.Gln527Argfs) deletion Pathogenic rs118203550 GRCh37 Chromosome 9, 135781384: 135781385
28 TSC1 NM_000368.4(TSC1): c.1708_1709delAG (p.Arg570Glyfs) deletion Pathogenic rs118203564 GRCh37 Chromosome 9, 135781256: 135781257
29 TSC1 NM_000368.4(TSC1): c.1959dupA (p.Gln654Thrfs) duplication Pathogenic rs118203603 GRCh37 Chromosome 9, 135781006: 135781006
30 TSC1 NM_000368.4(TSC1): c.1963C> T (p.Gln655Ter) single nucleotide variant Pathogenic rs118203606 GRCh37 Chromosome 9, 135781002: 135781002
31 TSC1 NM_000368.4(TSC1): c.1997+1G> A single nucleotide variant Pathogenic rs118203610 GRCh37 Chromosome 9, 135780967: 135780967
32 TSC1 NM_000368.4(TSC1): c.2074C> T (p.Arg692Ter) single nucleotide variant Pathogenic rs118203631 GRCh37 Chromosome 9, 135779172: 135779172
33 TSC1 NM_000368.4(TSC1): c.211-2A> C single nucleotide variant Pathogenic rs118203352 GRCh37 Chromosome 9, 135801128: 135801128
34 TSC1 NM_000368.4(TSC1): c.2111_2112delAT (p.Tyr704Terfs) deletion Pathogenic rs118203645 GRCh37 Chromosome 9, 135779134: 135779135
35 TSC1 NM_000368.4(TSC1): c.2227C> T (p.Gln743Ter) single nucleotide variant Pathogenic rs118203661 GRCh37 Chromosome 9, 135778156: 135778156
36 TSC1 NM_000368.4(TSC1): c.2283C> A (p.Tyr761Ter) single nucleotide variant Pathogenic rs118203668 GRCh37 Chromosome 9, 135778100: 135778100
37 TSC1 NM_000368.4(TSC1): c.2341C> T (p.Gln781Ter) single nucleotide variant Pathogenic rs118203680 GRCh37 Chromosome 9, 135778042: 135778042
38 TSC1 NM_000368.4(TSC1): c.2356C> T (p.Arg786Ter) single nucleotide variant Pathogenic rs118203682 GRCh37 Chromosome 9, 135778027: 135778027
39 TSC1 NM_000368.4(TSC1): c.2401G> T (p.Glu801Ter) single nucleotide variant Pathogenic rs118203687 GRCh37 Chromosome 9, 135777077: 135777077
40 TSC1 NM_000368.3(TSC1): c.2509_2512delAACA (p.Asn837Valfs) deletion Pathogenic rs118203707 GRCh37 Chromosome 9, 135776215: 135776218
41 TSC1 NM_000368.4(TSC1): c.2569delG (p.Glu857Argfs) deletion Pathogenic rs118203712 GRCh37 Chromosome 9, 135776158: 135776158
42 TSC1 NM_000368.4(TSC1): c.2689C> T (p.Gln897Ter) single nucleotide variant Pathogenic rs118203727 GRCh37 Chromosome 9, 135772934: 135772934
43 TSC1 NM_000368.4(TSC1): c.2692C> T (p.Gln898Ter) single nucleotide variant Pathogenic rs118203728 GRCh37 Chromosome 9, 135772931: 135772931
44 TSC1 NM_000368.4(TSC1): c.271_272delTC (p.Ser91Valfs) deletion Pathogenic rs118203360 GRCh37 Chromosome 9, 135801065: 135801066
45 TSC1 NM_000368.4(TSC1): c.395_406delGCGTCTTGGTGTinsCA (p.Gly132Alafs) indel Pathogenic rs118203380 GRCh37 Chromosome 9, 135798837: 135798848
46 TSC1 NM_000368.4(TSC1): c.491G> A (p.Trp164Ter) single nucleotide variant Pathogenic rs118203387 GRCh37 Chromosome 9, 135798752: 135798752
47 TSC1 NM_000368.4(TSC1): c.569G> C (p.Arg190Pro) single nucleotide variant Likely pathogenic rs118203402 GRCh37 Chromosome 9, 135797300: 135797300
48 TSC1 NM_000368.4(TSC1): c.664-1G> A single nucleotide variant Pathogenic rs118203423 GRCh37 Chromosome 9, 135796824: 135796824
49 TSC1 NM_000368.4(TSC1): c.664-1G> C single nucleotide variant Pathogenic rs118203423 GRCh37 Chromosome 9, 135796824: 135796824
50 TSC1 NM_000368.4(TSC1): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs118203427 GRCh37 Chromosome 9, 135796805: 135796805

Expression for Tuberous Sclerosis-1

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

Pathways for Tuberous Sclerosis-1

GO Terms for Tuberous Sclerosis-1

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

id Name GO ID Score Top Affiliating Genes
1 TSC1-TSC2 complex GO:0033596 8.62 TSC1 TSC2

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

id Name GO ID Score Top Affiliating Genes
1 cell cycle arrest GO:0007050 9.37 TSC1 TSC2
2 regulation of cell cycle GO:0051726 9.32 TSC1 TSC2
3 neural tube closure GO:0001843 9.26 TSC1 TSC2
4 negative regulation of TOR signaling GO:0032007 9.16 TSC1 TSC2
5 negative regulation of insulin receptor signaling pathway GO:0046627 8.96 TSC1 TSC2
6 positive regulation of macroautophagy GO:0016239 8.62 TSC1 TSC2

Sources for Tuberous Sclerosis-1

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