Tuberous Sclerosis 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

TSC1 MCID: TBR025 MIFTS: 74	Tuberous Sclerosis 1 (TSC1) Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Tuberous Sclerosis 1

MalaCards integrated aliases for Tuberous Sclerosis 1:

IMPROVED

Name: Tuberous Sclerosis 1 ⁵⁷ ¹¹ ⁷³ ²⁸ ⁵ ⁷¹

Tuberous Sclerosis Complex ⁵⁷ ²⁴ ¹⁹ ⁴² ⁵⁸ ⁷⁵ ⁷³

Tuberous Sclerosis ¹⁹ ⁵⁸ ⁷³ ⁷¹

Bourneville Syndrome ¹⁹ ⁵⁸ ⁷³

Tuberous Sclerosis-1 ⁵⁷ ¹²

Bourneville Disease ²⁴ ⁴²

Tuberose Sclerosis ⁵⁷ ⁴²

Tsc1 ⁵⁷ ⁷³

Ts ⁵⁷ ⁷³

Tuberous Sclerosis, Type 1 ⁷⁵

Bourneville Phakomatosis ⁴²

Cerebral Sclerosis ⁴²

Sclerosis Tuberosa ⁴²

Tsc ⁵⁷

Characteristics:

Inheritance:

Tuberous Sclerosis 1: Autosomal dominant ⁵⁷

Tuberous Sclerosis Complex: Autosomal dominant ⁵⁸

Prevelance:

Tuberous Sclerosis Complex: 1-9/100000 (Taiwan, Province of China, Germany, United Kingdom) ⁵⁸

Age Of Onset:

Tuberous Sclerosis Complex: All ages ⁵⁸

Age Of Death:

Tuberous Sclerosis Complex: any age ⁵⁸

OMIM®:

⁵⁷ (Updated 24-Oct-2022)

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

GeneReviews:

²⁴

Penetrance After detailed evaluation of each individual known to have a tsc1 or tsc2 pathogenic variant, the penetrance of tsc is now thought to be 100%. rare instances of apparent non-penetrance have been reported; however, molecular studies revealed the presence of two different pathogenic variants in the family and the existence of germline mosaicism in others [connor et al 1986, webb & osborne 1991, rose et al 1999].

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Cardiovascular diseases Nephrological diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Phakomatoses, not elsewhere classified

Tuberous sclerosis

Orphanet: ⁵⁸

Rare neurological diseases

Rare circulatory system diseases

Rare renal diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹¹ DOID:0080324

OMIM® ⁵⁷ 191100

OMIM Phenotypic Series ⁵⁷ PS191100

MeSH ⁴³ D014402

MESH via Orphanet ⁴⁴ D014402

ICD10 via Orphanet ³² Q85.1

UMLS via Orphanet ⁷² C0041341

Orphanet ⁵⁸ ORPHA805

MedGen ⁴⁰ C0041341 C1854465

SNOMED-CT via HPO ⁶⁹ 109620006 123527003 126864006 more

UMLS ⁷¹ C0041341 C1854465

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Summaries for Tuberous Sclerosis 1

MedlinePlus Genetics: ⁴² Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. These tumors can occur in the brain, kidneys, heart, skin, and other organs, in some cases leading to significant health problems. Tuberous sclerosis complex also causes developmental problems, and the signs and symptoms of the condition vary from person to person.Tuberous sclerosis complex often affects the brain, with some affected individuals having benign growths in the outer surface of the brain (cerebral cortex) known as cortical tubers. Individuals with tuberous sclerosis complex often develop a pattern of behaviors called TSC-associated neuropsychiatric disorders (TAND). These disorders include hyperactivity, aggression, psychiatric conditions, intellectual disability, and problems with communication and social interaction (autism spectrum disorder). Additionally, individuals with tuberous sclerosis complex may have attention-deficit/hyperactivity disorder (ADHD) or seizures.Kidney tumors are common in people with tuberous sclerosis complex; these growths can cause severe problems with kidney function and may be life-threatening in some cases. Additionally, tumors can develop in the heart (cardiac rhabdomyoma) and the light-sensitive tissue at the back of the eye (the retina). Some women with tuberous sclerosis complex develop lymphangioleiomyomatosis (LAM), which is a lung disease characterized by the abnormal overgrowth of smooth muscle-like tissue in the lungs that causes coughing, shortness of breath, chest pain, and lung collapse.Virtually all affected people have skin abnormalities, including patches of unusually light-colored skin, areas of raised and thickened skin, and growths under the nails. Tumors on the face called facial angiofibromas are also common beginning in childhood. Sometimes, affected individuals have areas of bone or dental damage.

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

OMIM®: ⁵⁷ Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). (191100) (Updated 24-Oct-2022)

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

UniProtKB/Swiss-Prot: ⁷³ An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes.

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

Disease Ontology: ¹¹ A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has material basis in heterozygous mutation in the TSC1 gene on chromosome 9q34.

Wikipedia: ⁷⁵ Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes... more...

GeneReviews: NBK1220

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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 1042)

#	Related Disease	Score	Top Affiliating Genes
1	tuberous sclerosis 2	31.8	TSC2 IFNG
2	lymphangioleiomyomatosis	31.7	TSC2 TSC1
3	peutz-jeghers syndrome	31.4	TSC2 TSC1
4	subependymal giant cell astrocytoma	31.4	TSC2 TSC1
5	kidney angiomyolipoma	31.4	TSC2 TSC1
6	polycystic kidney disease 1 with or without polycystic liver disease	31.4	TSC2 TSC1
7	ganglioglioma	31.4	TSC2 TSC1
8	obstructive hydrocephalus	31.3	TSC2 TSC1
9	tuberous sclerosis	31.3	TSC2 TSC1 CCL26
10	neurofibromatosis, type i	31.3	TSC2 TSC1
11	perivascular epithelioid cell tumor	31.2	TSC2 TSC1
12	focal cortical dysplasia, type ii	31.2	TSC2 TSC1
13	polycystic liver disease 1 with or without kidney cysts	31.2	TSC2 TSC1
14	hepatic angiomyolipoma	31.2	TSC2 TSC1
15	autism	31.2	TSC2 TSC1 IFNG
16	cowden syndrome	31.2	TSC2 TSC1
17	birt-hogg-dube syndrome	31.1	TSC2 TSC1
18	multilocular clear cell renal cell carcinoma	31.1	TSC2 TSC1
19	liver lipoma	31.1	TSC2 TSC1
20	epithelioid type angiomyolipoma	31.1	TSC2 TSC1
21	cowden syndrome 1	31.1	TSC2 TSC1
22	uterus perivascular epithelioid cell tumor	31.1	TSC2 TSC1
23	angiolipoma	31.1	TSC2 TSC1
24	heart cancer	31.1	TSC2 TSC1
25	subependymal glioma	31.1	TSC2 TSC1
26	benign ependymoma	31.1	TSC2 TSC1
27	perivascular tumor	31.1	TSC2 TSC1
28	lung disease	31.1	TSC2 TSC1 IFNG
29	kidney benign neoplasm	31.1	TSC2 TSC1
30	neurodegeneration with brain iron accumulation	31.1	TSC2 TSC1
31	corneal dystrophy, fleck	31.1	TSC2 TSC1
32	proteus syndrome	31.1	TSC2 TSC1
33	connective tissue benign neoplasm	31.1	TSC2 TSC1
34	inherited cancer-predisposing syndrome	31.1	TSC2 TSC1
35	autism spectrum disorder	31.1	TSC2 TSC1 IFNG
36	low grade glioma	31.0	TSC2 TSC1
37	central nervous system benign neoplasm	31.0	TSC2 TSC1
38	spinal cord disease	31.0	TSC2 TSC1
39	bap1 tumor predisposition syndrome	31.0	TSC2 TSC1
40	lymphoid interstitial pneumonia	31.0	TSC2 TSC1 IFNG
41	angiomyolipoma	31.0	TSC2 TSC1 CCL26
42	pervasive developmental disorder	30.9	TSC2 TSC1
43	polycystic kidney disease	30.9	TSC2 TSC1 CCL26
44	cystic kidney disease	30.9	TSC2 TSC1 CCL26
45	hemangioma	30.9	TSC2 TSC1
46	congenital heart defects, hamartomas of tongue, and polysyndactyly	30.8	TSC2 TSC1 CCL26
47	autosomal dominant polycystic kidney disease	30.8	TSC2 TSC1
48	hypereosinophilic syndrome	29.5	IFNG CCL26
49	contact dermatitis	29.3	IFNG CCL26
50	allergic asthma	29.2	IFNG CCL26

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

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Symptoms & Phenotypes for Tuberous Sclerosis 1

Human phenotypes related to Tuberous Sclerosis 1:

⁵⁸ ³⁰ (show top 50) (show all 82)

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

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 24-Oct-2022)

Neurologic Central Nervous System:
seizures
infantile spasms
subependymal nodules
cortical tubers
hamartomatous lesions of the brain
more

Neurologic Behavioral Psychiatric Manifestations:
autism
hyperactivity
attention deficit disorder

Neoplasia:
ependymoma
chordoma
renal carcinoma
myocardial rhabdomyoma
multiple bilateral renal angiomyolipoma
more

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

Head And Neck Mouth:
pitted dental enamel
gingival fibroma

Skeletal:
cystic areas of bone rarefaction, esp. phalanges

Endocrine Features:
hypothyroidism
precocious puberty

Skin Nails Hair Skin:
shagreen patch
subcutaneous nodules
cafe-au-lait spots
facial angiofibroma (adenoma sebaceum)
white ash leaf-shaped macules
more

Cardiovascular Heart:
cardiac rhabdomyoma
wolf-parkinson-white syndrome

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

Respiratory Lung:
lymphangiomyomatosis, rare

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

Clinical features from OMIM®:

191100 (Updated 24-Oct-2022)

UMLS symptoms related to Tuberous Sclerosis 1:

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

MGI Mouse Phenotypes related to Tuberous Sclerosis 1:

⁴⁵

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

Sources

Drugs & Therapeutics for Tuberous Sclerosis 1

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

(show top 50) (show all 81)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Miconazole

Approved, Investigational, Vet_approved

Phase 4

22916-47-8

4189

Sirolimus

Approved, Investigational

Phase 4

53123-88-9

5284616 6436030

Clotrimazole

Approved, Vet_approved

Phase 4

23593-75-1

2812

Doxycycline

Approved, Investigational, Vet_approved

Phase 4

564-25-0

54671203

Cannabidiol

Approved, Investigational

Phase 4

13956-29-1

521372 644019

Everolimus

Approved

Phase 4

159351-69-6

70789204 6442177

Vigabatrin

Approved

Phase 4

60643-86-9, 68506-86-5

5665

Anti-Infective Agents

Phase 4

Antifungal Agents

Phase 4

Antibiotics, Antitubercular

Phase 4

Anti-Bacterial Agents

Phase 4

Antimalarials

Phase 4

Antiprotozoal Agents

Phase 4

Antiparasitic Agents

Phase 4

Pharmaceutical Solutions

Phase 4

Immunosuppressive Agents

Phase 4

Immunologic Factors

Phase 4

Liver Extracts

Phase 4

Anticonvulsants

Phase 4

Neurotransmitter Agents

Phase 4

Prednisolone phosphate

Approved, Vet_approved

Phase 3

302-25-0

Prednisolone acetate

Approved, Vet_approved

Phase 3

52-21-1

Prednisolone

Approved, Vet_approved

Phase 3

50-24-8

4894 5755

Methylprednisolone hemisuccinate

Approved

Phase 3

2921-57-5

1875

Methylprednisolone

Approved, Vet_approved

Phase 3

83-43-2

4159 6741

Clobazam

Approved, Illicit

Phase 3

22316-47-8

2789

Carbamazepine

Approved, Investigational

Phase 3

298-46-4

2554

Topiramate

Approved

Phase 3

97240-79-4

5284627

Clonazepam

Approved, Illicit

Phase 3

1622-61-3

2802

Zonisamide

Approved, Investigational

Phase 3

68291-97-4

5734

Phenytoin

Approved, Vet_approved

Phase 3

57-41-0

1775

Phenobarbital

Approved, Investigational

Phase 3

50-06-6

4763

Strawberry

Approved

Phase 3

Ethanol

Approved

Phase 3

64-17-5

702

Ganaxolone

Approved, Investigational

Phase 3

38398-32-2

22023730 6918305

Calcitriol

Approved, Nutraceutical

Phase 3

32222-06-3

5280453

Prednisolone hemisuccinate

Experimental

Phase 3

2920-86-7

4897

Methylprednisolone Acetate

Phase 3

584547

Micronutrients

Phase 3

Calcium, Dietary

Phase 3

Vitamins

Phase 3

Trace Elements

Phase 3

Hormones

Phase 3

Vasoconstrictor Agents

Phase 3

Calcium

Nutraceutical

Phase 3

7440-70-2

271

Acetylsalicylic acid

Approved, Vet_approved

Phase 2

50-78-2

2244

Simvastatin

Approved

Phase 1, Phase 2

79902-63-9

54454

Benzocaine

Approved, Investigational

Phase 2

1994-09-7, 94-09-7

2337

Tannic acid

Approved

Phase 2

1401-55-4

16129878 16129778

Propranolol

Approved, Investigational

Phase 2

318-98-9, 525-66-6

62882 4946

Interventional clinical trials:

(show top 50) (show all 82)

#	Name	Status	NCT ID	Phase	Drugs
1	Phase IV, Single Arm Study of Safety and Efficacy of Everolimus in Chinese Adults With Tuberous Sclerosis Complex Who Have Renal Angiomyolipoma Not Requiring Immediate Surgery	Completed	NCT03525834	Phase 4	Everolimus
2	CLINICAL TRIAL TO DETERMINE THE EFFICACY AND SAFETY OF RAPAMYCIN IN ANGIOMYOLIPOMAS IN PATIENTS WITH TUBEROUS SCLEROSIS	Completed	NCT01217125	Phase 4	Sirolimus
3	A Randomised, Double Blind, Placebo Controlled Trial of Doxycycline in Lymphangioleiomyomatosis.	Completed	NCT00989742	Phase 4	Doxycycline;Placebo
4	A Long-term Safety Study to Assess the Potential for Chronic Liver Injury in Participants Treated With Epidiolex (Cannabidiol) Oral Solution	Recruiting	NCT05044819	Phase 4	Cannabidiol
5	Phase IV, Prospective Single Arm Study of Safety and Efficacy of Votubia (Everolimus) in Taiwanese Adults With Tuberous Sclerosis Complex Who Have Renal Angiomyolipoma	Not yet recruiting	NCT05252585	Phase 4	Everolimus
6	Sabril for Treatment of Adult Refractory Partial Seizures Symptomatic of Tuberous Sclerosis: An Open Label, Phase IV Prospective Safety and Tolerability Study	Terminated	NCT01266291	Phase 4	vigabatrin
7	Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex	Unknown status	NCT01730209	Phase 2, Phase 3	Everolimus;Placebo
8	Phase III Randomized, Double-Blind, Sham-Controlled Study of Plasma Exchange for Acute Severe Attacks of Inflammatory Demyelinating Disease Refractory to Intravenous Methylprednisolone	Unknown status	NCT00004645	Phase 3
9	A Three-arm, Randomized, Double-blind, Placebo-controlled Study of the Efficacy and Safety of Two Trough-ranges of Everolimus as Adjunctive Therapy in Patients With Tuberous Sclerosis Complex (TSC) Who Have Refractory Partial-onset Seizures	Completed	NCT01713946	Phase 3	RAD001;Placebo;Antiepileptic drug (1 to 3 only);open label RAD001 (only used for post-extension phase)
10	A Randomized, Double-blind, Placebo-controlled Study of 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
11	A Double-blind, Randomized, Placebo-controlled Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P, CBD) as Add-on Therapy in Patients With Tuberous Sclerosis Complex Who Experience Inadequately-controlled Seizures	Completed	NCT02544763	Phase 3	GWP42003-P;Placebo
12	A Double-blind, Randomized, Placebo-controlled Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P, CBD) as Add-on Therapy in Patients With Tuberous Sclerosis Complex Who Experience Inadequately-controlled Seizures	Completed	NCT02544750	Phase 3	GWP42003-P
13	A Double-blind, Randomized, Placebo-controlled Phase III Trial to Investigate the Efficacy and Safety of NPC-12G Gel (Topical Formulation of Sirolimus) to Angiofibroma and Other Skin Lesions in Patients With Tuberous Sclerosis Complex	Completed	NCT02635789	Phase 3	NPC-12G gel;Placebo gel
14	A 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
15	A Randomized, Double-blind, Placebo-controlled Study of Everolimus in the Treatment of Patients With Subependymal Giant Cell Astrocytomas (SEGA) Associated With Tuberous Sclerosis Complex (TSC)	Completed	NCT00789828	Phase 3	Everolimus;Placebo
16	A Phase 2/3, Multi-Center, Double-Blind, Placebo-Controlled, Randomized, Parallel-Group, Dose-Response Comparison of the Efficacy and Safety of a Topical Rapamycin Cream for the Treatment of Facial Angiofibromas (FA) Associated With Tuberous Sclerosis Complex (TSC) in Patients 6 Years of Age and Over	Completed	NCT03826628	Phase 2, Phase 3	rapamycin;placebo
17	Study of Combination Therapy With Topical Rapamycin and Calcitriol for Cutaneous Lesions of Tuberous Sclerosis: A Double-blind Randomized Controlled Trial	Completed	NCT03140449	Phase 3	Rapamycin;Calcitriol;Rapamycin-calcitriol combination
18	Randomized, Placebo-controlled, Double-blind and Double-dummy Clinical Trial Comparing the Safety, Tolerability, and Efficacy of Vigabatrin and Rapamycin in a Preventive Treatment of Infants With Tuberous Sclerosis Complex	Recruiting	NCT04987463	Phase 2, Phase 3	Vigabatrin;Rapamycin;Placebo
19	Placebo-controlled Comparative Study of NPC-12Y Gel in Patients With Skin Lesions Associated With Tuberous Sclerosis Complex	Recruiting	NCT05495425	Phase 3	NPC-12Y gel;NPC-12Y placebo gel
20	An Open-label, Randomized Trial to Assess the Safety, Pharmacokinetics, and Exploratory Efficacy of Adjunctive Cannabidiol Oral Solution (GWP42003-P) Compared With Standard of Care Antiseizure Medication, in Patients Age 1 Month to Less Than 12 Months of Age With Tuberous Sclerosis Complex Who Experience Inadequately-controlled Seizures	Recruiting	NCT04485104	Phase 3	GWP42003-P;SOC
21	A Phase 3, Double-blind, Randomized, Placebo-controlled Trial of Adjunctive Ganaxolone (GNX) Treatment in Children and Adults With Tuberous Sclerosis Complex (TSC)-Related Epilepsy	Recruiting	NCT05323734	Phase 3	GNX oral suspension, TID;Placebo
22	Efficacy and Safety Study of Vatiquinone for the Treatment of Mitochondrial Disease Subjects With Refractory Epilepsy	Recruiting	NCT04378075	Phase 2, Phase 3	Vatiquinone
23	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
24	Multicenter, Randomized, Double-blind, Placebo Controlled Study to Assess the Efficacy and Safety of Rapamycin in Drug Resistant Epilepsy Associated With TSC	Not yet recruiting	NCT05534672	Phase 3
25	Topical Everolimus Versus Placebo for the Treatment of Facial Angiofibromas in Patients With Tuberous Sclerosis Complex. A Phase II/III, Multicentre, Randomized, Double-blind, Placebo-controlled Study of 3 Doses of Topical Everolimus.	Withdrawn	NCT02860494	Phase 2, Phase 3	Everolimus;Placebo
26	A Placebo-controlled Study of Efficacy & Safety of Aspirin as an add-on Treatment in Patients With Tuberous Sclerosis Complex (TSC) & Refractory Seizures	Unknown status	NCT03356769	Phase 2	Aspirin;AED;Placebo
27	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
28	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)
29	The Safety of Simvastatin (SOS) in Patients With Pulmonary Lymphangioleiomyomatosis (LAM) and With Tuberous Sclerosis Complex (TSC)	Completed	NCT02061397	Phase 1, Phase 2	Simvastatin;Sirolimus Oral Product;Everolimus Oral Product
30	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
31	Everolimus (RAD001) Therapy for Epilepsy in Patients With Tuberous Sclerosis Complex	Completed	NCT01070316	Phase 1, Phase 2	Everolimus
32	Randomized Double-Blind Phase 2 Trial Of RAD001 For Neurocognition In Individuals With Tuberous Sclerosis Complex	Completed	NCT01289912	Phase 2	RAD001;Placebo
33	Rapalogues for Autism Phenotype in TSC: A Feasibility Study	Completed	NCT01929642	Phase 2	Sirolimus;Everolimus
34	A Pilot Study To Evaluate The Effects of Everolimus on Brain mTOR Activity and Cortical Hyperexcitability in TSC and FCD	Completed	NCT02451696	Phase 2	Everolimus
35	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)
36	Everolimus (RAD001)Therapy of Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex	Completed	NCT00411619	Phase 1, Phase 2	Everolimus
37	Rapamycin Therapy of Angiomyolipomas in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis	Completed	NCT00457808	Phase 2	Rapamycin, sirolimus
38	RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis	Completed	NCT00457964	Phase 1, Phase 2	RAD001
39	Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers: Pilot Trial	Completed	NCT02104011	Phase 2	Propranolol
40	Phase II Study of Topical Rapamycin to Erase Angiofibromas in TSC-Multicenter Evaluation of a Novel Therapy	Completed	NCT01526356	Phase 2	Placebo;Rapamycin
41	A Phase II Multi-Center Study of Rapamycin for Treating Kidney Angiomyolipomas in TSC or LAM Patients	Completed	NCT00126672	Phase 2	Rapamycin
42	Feasibility Study of [11C]Acetate Positron Emission Tomography (PET) as an Indicator of Early Response to Rapamycin in Lymphangioleiomyomatosis (LAM) Patients	Recruiting	NCT05467397	Phase 1, Phase 2	[11C]acetate
43	Stopping TSC Onset and Progression 2B: Sirolimus TSC Epilepsy Prevention Study	Recruiting	NCT05104983	Phase 2	Sirolimus;Placebo
44	A Phase 2B, Multicenter, 30-week, Prospective, Cross-over, Double-blind, Randomized, Placebo-controlled Study Followed by a 52-Week Open-label Extension Study to Evaluate the Efficacy and Safety of Basimglurant Adjunctive to Ongoing Anticonvulsive Therapy in Children, Adolescents, and Young Adults With Uncontrolled Seizures Associated With Tuberous Sclerosis Complex	Recruiting	NCT05059327	Phase 2	Basimglurant with crossover to Placebo;Placebo with crossover to Basimglurant
45	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
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	Active, not recruiting	NCT02849457	Phase 2	Vigabatrin;Placebo
47	Stopping TSC Onset and Progression 2: Epilepsy Prevention in TSC Infants	Active, not recruiting	NCT04595513	Phase 1, Phase 2	TAVT-18 (sirolimus)
48	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)	Active, not recruiting	NCT04285346	Phase 2	Ganaxolone
49	Topical Rapamycin Therapy to Alleviate Cutaneous Manifestations of Tuberous Sclerosis Complex and Neurofibromatosis 1	Completed	NCT01031901	Phase 1	Skincerity;Skincerity plus sirolimus/rapamycin;Skinercity plus sirolimus/rapamycin
50	Tuberous Sclerosis Complex: Facial Angiofibroma Skin Cream	Completed	NCT01853423	Phase 1	Rapamune

Search NIH Clinical Center for Tuberous Sclerosis 1

Sources

Genetic Tests for Tuberous Sclerosis 1

Genetic tests related to Tuberous Sclerosis 1:

#	Genetic test	Affiliating Genes
1	Tuberous Sclerosis 1 ²⁸	TSC1

Sources

Anatomical Context for Tuberous Sclerosis 1

Organs/tissues related to Tuberous Sclerosis 1:

MalaCards : Skin, Brain, Kidney, Lung, Heart, Smooth Muscle, Cortex

ODiseA: Brain, Heart-Atrium, Heart-Ventricle, Heart, Respiratory System-Lung, Respiratory System, Skin, Kidney

Sources

Publications for Tuberous Sclerosis 1

Articles related to Tuberous Sclerosis 1:

(show top 50) (show all 9634)

#	Title	Authors	PMID	Year
1	TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex. ⁶² ²⁴ ⁵⁷ ⁵	Muzykewicz DA...Thiele EA	19419980	2009
2	Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. ⁶² ²⁴ ⁵⁷ ⁵	Au KS...Northrup H	17304050	2007
3	Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. ⁶² ²⁴ ⁵⁷ ⁵	Sancak O...van den Ouweland A	15798777	2005
4	Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. ⁶² ²⁴ ⁵⁷ ⁵	Dabora SL...Kwiatkowski DJ	11112665	2001
5	Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations. ⁶² ⁵⁷ ⁵	Jansen FE...Nellist M	18032745	2008
6	Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis. ⁶² ⁵⁷ ⁵	Ali JB...Yates JR	9863590	1998
7	Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance. ⁶² ⁵⁷ ⁵	Kwiatkowska J...Kwiatkowski DJ	9924605	1998
8	Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. ⁶² ⁵⁷ ⁵	van Slegtenhorst M...Kwiatkowski DJ	9242607	1997
9	Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. ⁶² ²⁴ ⁵	Tyburczy ME...Kwiatkowski DJ	26540169	2015
10	Missense mutations to the TSC1 gene cause tuberous sclerosis complex. ⁶² ²⁴ ⁵	Nellist M...Halley D	18830229	2009
11	Neuropsychological attention deficits in tuberous sclerosis complex (TSC). ⁶² ²⁴ ⁵⁷	de Vries PJ...Bolton PF	19215038	2009
12	Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. ⁶² ²⁴ ⁵	Kozlowski P...Kwiatkowski DJ	17287951	2007
13	The tuberous sclerosis complex. ⁶² ²⁴ ⁵⁷	Crino PB...Henske EP	17005952	2006
14	Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations. ⁶² ²⁴ ⁵	Rendtorff ND...Danish Tuberous Sclerosis Group	16114042	2005
15	The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis. ⁶² ²⁴ ⁵	Strizheva GD...Henske EP	11208653	2001
16	Germ-line mosaicism in tuberous sclerosis: how common? ⁶² ²⁴ ⁵	Rose VM...Northrup H	10090883	1999
17	Non-penetrance in tuberous sclerosis. ⁶² ²⁴ ⁵⁷	Webb DW...Osborne JP	1870099	1991
18	Genetic aspects of tuberous sclerosis in the west of Scotland. ⁶² ²⁴ ⁵⁷	Sampson JR...Connor JM	2918523	1989
19	Genotype and Phenotype Analysis of Chinese Children With Tuberous Sclerosis Complex: A Pediatric Cohort Study. ⁶² ⁵	Ding Y...Wang Y	32211034	2020
20	Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family. ⁶² ⁵	Shoji T...Nishimura M	30794603	2019
21	A family case with germline TSC1 and mtDNA mutations developing bilateral eosinophilic chromophobe renal cell carcinomas without other typical phenotype of tuberous sclerosis. ⁶² ⁵	Sakamoto H...Ogawa O	29960980	2018
22	Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2. ⁶² ⁵	Peron A...TSC Study Group of the San Paolo Hospital of Milan	29432982	2018
23	Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the TSC1 and TSC2 genes. ⁶² ⁵	Glushkova M...Todorova A	29932062	2018
24	Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece. ⁶² ⁵	Avgeris S...Voutsinas GE	29196670	2017
25	A Tuberous Sclerosis Family with TSC1 (c.1030-1G>A) Mutation Found through a Female Presenting as Multiple Ground Glass Nodules in Chest Computed Tomography Incidentally. ⁶² ⁵	Zhao TT...Miao LY	29052576	2017
26	Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex. ⁶² ⁵	Yang G...Zou LP	27859028	2017
27	Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China. ⁶² ⁵	Cai Y...Zhang Y	28065512	2017
28	Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis. ⁶² ⁵	Rosset C...Ashton-Prolla P	28968464	2017
29	Hamartomatous polyposis in tuberous sclerosis complex: Case report and review of the literature. ⁶² ⁵	Santos L...Langner C	26493680	2015
30	Hemispherectomy for Hemimegalencephaly Due to Tuberous Sclerosis and a Review of the Literature. ⁶² ⁵	Cuddapah VA...Goyal M	26231267	2015
31	TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex. ⁶² ⁵	Zhang Y...Liu Zg	25900779	2015
32	Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex. ⁶² ⁵⁷	Liang N...Pende M	25288394	2014
33	Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex. ⁶² ⁵	Tyburczy ME...Darling TN	24271014	2014
34	Monoallelic germline TSC1 mutations are permissive for T lymphocyte development and homeostasis in tuberous sclerosis complex individuals. ⁶² ⁵	Pilipow K...Mondino A	24633152	2014
35	Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported. ⁶² ⁵	Niida Y...Yokoi A	23389244	2013
36	Molecular genetic, cardiac and neurodevelopmental findings in cases of prenatally diagnosed rhabdomyoma associated with tuberous sclerosis complex. ⁶² ⁵	Lee KA...Kim A	22791573	2013
37	Leydig cell tumor of the testis in tuberous sclerosis: lack of second hit events. ⁶² ⁵	Malinowska IA...Morrison PJ	22707517	2012
38	[Mutation screening and prenatal diagnosis of tuberous sclerosis complex]. ⁶² ⁵	Li W...Lu GX	21811971	2011
39	Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population. ⁶² ⁵⁷	McMaster ML...Parry DM	21266383	2011
40	High-resolution melting analysis is a more effective approach for screening TSC genes mutations. ⁶² ⁵	Tsai TS...Chu DC	21510812	2011
41	Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. ⁶² ⁵	Hoogeveen-Westerveld M...Nellist M	21309039	2011
42	Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients. ⁶² ⁵	van den Ouweland AM...Halley DJ	20877415	2011
43	Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events. ⁶² ⁵	Qin W...Kwiatkowski DJ	20633017	2010
44	Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction. ⁶² ⁵	Hoogeveen-Westerveld M...Nellist M	20547222	2010
45	Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex. ⁶² ⁵⁷	Chu-Shore CJ...Thiele E	19332694	2009
46	Tuberous sclerosis. ⁶² ⁵⁷	Curatolo P...Jozwiak S	18722871	2008
47	Novel mutations in 21 patients with tuberous sclerosis complex and variation of tandem splice-acceptor sites in TSC1 exon 14. ⁶² ⁵	Sasongko TH...Nishio H	18772611	2008
48	Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex. ⁶² ⁵⁷	Zeng LH...Wong M	18389497	2008
49	Molecular and clinical analyses of 84 patients with tuberous sclerosis complex. ⁶² ⁵	Hung CC...Lee CN	16981987	2006
50	TSC1, TSC2, TSC3? Or mosaicism? ⁶² ⁵⁷	Kwiatkowski D	15912141	2005

Sources

Genes for Tuberous Sclerosis 1

Genes related to Tuberous Sclerosis 1 (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TSC1	TSC Complex Subunit 1	Protein Coding	1703.11	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders Publications Gene name (show sections)	9242607 9328481 9536098 (more) 9803264 9863590 9924605 10053179 10090883 10227394 10340649 10363127 10533066 10533067 10533069 10570911 11112665 11208653 15798777 16114042 16199547 16981987 17287951 17304050 17576681 18032745 18772611 18830229 19419980 19763152 20307669 20547222 20633017 20877415 21309039 21510812 21520333 21811971 22406018 22707517 22791573 23389244 24271014 24633152 25900779 26231267 26493680 26540169 27859028 28065512 28968464 29052576 29196670 29432982 29932062 29960980 30794603 31370276 32211034 32238909 33532864 20301399
2	TSC2	TSC Complex Subunit 2	Protein Coding	757.81	Pathogenic ⁵ Causative germline mutation ⁵⁸ GeneCards inferred via : Publications (show sections)	20301399
3	IFNG	Interferon Gamma	Protein Coding	25	Modifying germline mutation ⁵⁸	12192641
4	CCL26	C-C Motif Chemokine Ligand 26	Protein Coding	7.11	GeneCards inferred via : Publications (show sections)

Sources

Variations for Tuberous Sclerosis 1

ClinVar genetic disease variations for Tuberous Sclerosis 1:

IMPROVED

⁵ (show top 50) (show all 2496)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	overlap with 3 genes	NC_000009.11:g.(135750586_135753559)_(135772997_135776102)del	DEL	Pathogenic	397550		GRCh37: 9:135750586-135776102 GRCh38: 9:132875199-132900715
2	TSC1	NM_000368.5(TSC1):c.2341_2360dup (p.Glu787fs)	DUP	Pathogenic	411223	rs1554814935	GRCh37: 9:135778022-135778023 GRCh38: 9:132902635-132902636
3	TSC1	NM_000368.5(TSC1):c.24_42delinsCAA (p.Glu9fs)	INDEL	Pathogenic	466078	rs1554821022	GRCh37: 9:135804218-135804236 GRCh38: 9:132928831-132928849
4	TSC1	NC_000009.12:g.(?_132896229)_(132928878_?)del	DEL	Pathogenic	534520		GRCh37: 9:135771616-135804265 GRCh38: 9:132896229-132928878
5	TSC1	NM_000368.5(TSC1):c.1541_1549delinsTG (p.Gly514fs)	INDEL	Pathogenic	567435	rs1564482288	GRCh37: 9:135781416-135781424 GRCh38: 9:132906029-132906037
6	TSC1	NM_000368.5(TSC1):c.2488C>T (p.Gln830Ter)	SNV	Pathogenic	569006	rs1564475884	GRCh37: 9:135776990-135776990 GRCh38: 9:132901603-132901603
7	TSC1	NM_000368.5(TSC1):c.734dup (p.Arg246fs)	DUP	Pathogenic	641211	rs1588345595	GRCh37: 9:135796752-135796753 GRCh38: 9:132921365-132921366
8	TSC1	NM_000368.5(TSC1):c.2715_2716dup (p.Gln906fs)	DUP	Pathogenic	647260	rs1588290658	GRCh37: 9:135772906-135772907 GRCh38: 9:132897519-132897520
9	TSC1	NC_000009.12:g.(?_132896215)_(132928892_?)del	DEL	Pathogenic	652970		GRCh37: 9:135771602-135804279 GRCh38: 9:132896215-132928892
10	TSC1	NM_000368.5(TSC1):c.2440del (p.Glu813_Leu814insTer)	DEL	Pathogenic	802524	rs1588299201	GRCh37: 9:135777038-135777038 GRCh38: 9:132901651-132901651
11	TSC1	NM_000368.5(TSC1):c.1515_1516del (p.Pro506fs)	MICROSAT	Pathogenic	802525	rs281875358	GRCh37: 9:135781449-135781450 GRCh38: 9:132906062-132906063
12	TSC1	NM_000368.5(TSC1):c.1389del (p.Gly464fs)	DEL	Pathogenic	802526	rs1588312765	GRCh37: 9:135782167-135782167 GRCh38: 9:132906780-132906780
13	TSC1	NM_000368.5(TSC1):c.998del (p.Pro333fs)	DEL	Pathogenic Pathogenic	802527	rs1564488773	GRCh37: 9:135786871-135786871 GRCh38: 9:132911484-132911484
14	TSC1	NM_000368.5(TSC1):c.492G>A (p.Trp164Ter)	SNV	Pathogenic Uncertain Significance	452870	rs1554819870	GRCh37: 9:135798751-135798751 GRCh38: 9:132923364-132923364
15	TSC1	NM_000368.5(TSC1):c.461del (p.Phe154fs)	DEL	Pathogenic	802528	rs1588350477	GRCh37: 9:135798782-135798782 GRCh38: 9:132923395-132923395
16	TSC1	NC_000009.12:g.(?_132900348)_(132921993_?)del	DEL	Pathogenic	831599		GRCh37: 9:135775735-135797380 GRCh38:
17	TSC1	NM_000368.5(TSC1):c.1677C>A (p.Cys559Ter)	SNV	Pathogenic Benign	834986	rs368317116	GRCh37: 9:135781288-135781288 GRCh38: 9:132905901-132905901
18	TSC1	NM_000368.5(TSC1):c.360_361insSVAelement	INSERT	Pathogenic	870235		GRCh37: 9:135800976-135800977 GRCh38: 9:132925589-132925590
19	TSC1	NM_000368.5(TSC1):c.1486_1504del (p.Pro496fs)	DEL	Pathogenic	932147	rs1845654716	GRCh37: 9:135781461-135781479 GRCh38: 9:132906074-132906092
20	TSC1	NM_000368.5(TSC1):c.1527del (p.Asp510fs)	DEL	Pathogenic	932148	rs1845652716	GRCh37: 9:135781438-135781438 GRCh38: 9:132906051-132906051
21	TSC1	NM_000368.5(TSC1):c.1614del (p.Ser539fs)	DEL	Pathogenic	932149	rs1845643067	GRCh37: 9:135781351-135781351 GRCh38: 9:132905964-132905964
22	TSC1	NM_000368.5(TSC1):c.1996A>T (p.Lys666Ter)	SNV	Pathogenic Uncertain Significance	932150	rs1845604585	GRCh37: 9:135780969-135780969 GRCh38: 9:132905582-132905582
23	TSC1	NM_000368.5(TSC1):c.2101C>T (p.Gln701Ter)	SNV	Pathogenic	932151	rs1845504382	GRCh37: 9:135779145-135779145 GRCh38: 9:132903758-132903758
24	TSC1	NM_000368.5(TSC1):c.2671_2674del (p.Asn891fs)	DEL	Pathogenic	932152	rs1845149321	GRCh37: 9:135772949-135772952 GRCh38: 9:132897562-132897565
25	TSC1	NM_000368.5(TSC1):c.364-2A>G	SNV	Pathogenic	932153	rs1846685279	GRCh37: 9:135798881-135798881 GRCh38: 9:132923494-132923494
26	TSC1	NM_000368.5(TSC1):c.634_635del (p.Asn212fs)	DEL	Pathogenic	932154	rs1846577619	GRCh37: 9:135797234-135797235 GRCh38: 9:132921847-132921848
27	TSC1	NM_000368.5(TSC1):c.664-2A>G	SNV	Pathogenic	932155	rs1846550204	GRCh37: 9:135796825-135796825 GRCh38: 9:132921438-132921438
28	TSC1	NM_000368.5(TSC1):c.1858_1859del (p.Val620fs)	DEL	Pathogenic	938973	rs1845617102	GRCh37: 9:135781106-135781107 GRCh38: 9:132905719-132905720
29	TSC1	NM_000368.5(TSC1):c.406_418delinsGT (p.Leu136fs)	INDEL	Pathogenic	965469	rs1846678053	GRCh37: 9:135798825-135798837 GRCh38: 9:132923438-132923450
30	TSC1	NM_000368.5(TSC1):c.2159del (p.Leu720fs)	DEL	Pathogenic	965522	rs1845497321	GRCh37: 9:135779087-135779087 GRCh38: 9:132903700-132903700
31	TSC1	NM_000368.5(TSC1):c.1956_1960delinsTCAGGG (p.Ile653fs)	INDEL	Pathogenic	967983	rs1845607838	GRCh37: 9:135781005-135781009 GRCh38: 9:132905618-132905622
32	TSC1	NM_000368.5(TSC1):c.1228del (p.Ser410fs)	DEL	Pathogenic	969404	rs1845899274	GRCh37: 9:135785993-135785993 GRCh38: 9:132910606-132910606
33	TSC1	NM_000368.5(TSC1):c.2209-258_2502+101del	DEL	Pathogenic	978584		GRCh37: 9:135776875-135778432 GRCh38: 9:132901488-132903045
34	TSC1	NM_000368.5(TSC1):c.2041+240_2392-319del	DEL	Pathogenic	978585		GRCh37: 9:135777405-135779558 GRCh38: 9:132902018-132904171
35	TSC1	NM_000368.5(TSC1):c.731del (p.Pro244fs)	DEL	Pathogenic	975972	rs1846543630	GRCh37: 9:135796756-135796756 GRCh38: 9:132921369-132921369
36	TSC1	NM_000368.5(TSC1):c.1237del (p.Gln413fs)	DEL	Pathogenic	817113	rs1588321344	GRCh37: 9:135785984-135785984 GRCh38: 9:132910597-132910597
37	TSC1	NC_000009.11:g.(?_135771622)_(135820530_?)del	DEL	Pathogenic	1075215		GRCh37: 9:135771622-135820530 GRCh38:
38	TSC1	NM_000368.5(TSC1):c.107-1G>A	SNV	Pathogenic	418877	rs1064793494	GRCh37: 9:135802692-135802692 GRCh38: 9:132927305-132927305
39	TSC1	NM_000368.5(TSC1):c.2338A>T (p.Arg780Ter)	SNV	Pathogenic	620189	rs1564477162	GRCh37: 9:135778045-135778045 GRCh38: 9:132902658-132902658
40	TSC1	NM_000368.5(TSC1):c.1367dup (p.Ser457fs)	DUP	Pathogenic	419004	rs1554816245	GRCh37: 9:135782188-135782189 GRCh38: 9:132906801-132906802
41	TSC1	NM_000368.5(TSC1):c.2593C>T (p.Gln865Ter)	SNV	Pathogenic	265605	rs886039662	GRCh37: 9:135776134-135776134 GRCh38: 9:132900747-132900747
42	TSC1	NM_000368.5(TSC1):c.1326_1327del (p.Gly443fs)	MICROSAT	Pathogenic	421669	rs1064795285	GRCh37: 9:135782694-135782695 GRCh38: 9:132907307-132907308
43	TSC1	NM_000368.5(TSC1):c.2039del (p.Gly680fs)	DEL	Pathogenic	1387507		GRCh37: 9:135779800-135779800 GRCh38: 9:132904413-132904413
44	TSC1	NM_000368.5(TSC1):c.2046_2050del (p.Pro683fs)	DEL	Pathogenic	1386491		GRCh37: 9:135779196-135779200 GRCh38: 9:132903809-132903813
45	TSC1	NM_000368.5(TSC1):c.1849_1852dup (p.His618fs)	DUP	Pathogenic	1378495		GRCh37: 9:135781112-135781113 GRCh38: 9:132905725-132905726
46	TSC1	NM_000368.5(TSC1):c.364-1G>T	SNV	Pathogenic	1362028		GRCh37: 9:135798880-135798880 GRCh38: 9:132923493-132923493
47	TSC1	NM_000368.5(TSC1):c.147C>G (p.Tyr49Ter)	SNV	Pathogenic	1363358		GRCh37: 9:135802651-135802651 GRCh38: 9:132927264-132927264
48	TSC1	NM_000368.5(TSC1):c.1532del (p.Ser511fs)	DEL	Pathogenic	1392972		GRCh37: 9:135781433-135781433 GRCh38: 9:132906046-132906046
49	TSC1	NM_000368.5(TSC1):c.1047del (p.Ser350fs)	DEL	Pathogenic	1385868		GRCh37: 9:135786483-135786483 GRCh38: 9:132911096-132911096
50	TSC1	NM_000368.5(TSC1):c.442A>T (p.Lys148Ter)	SNV	Pathogenic	1405657		GRCh37: 9:135798801-135798801 GRCh38: 9:132923414-132923414

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

Sources

Expression for Tuberous Sclerosis 1

Genes differentially expressed in tissues of Tuberous Sclerosis 1 patients vs. healthy controls: ³⁵ (show top 50) (show all 105)

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

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

Sources

Pathways for Tuberous Sclerosis 1

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

(show all 21)

#	Super pathways	Score	Top Affiliating Genes
1	Translational Control ³ Show member pathways exRNA mechanism of action and biogenesis ⁷⁴	11.89	TSC2 TSC1
2	Development IGF-1 receptor signaling ²² Show member pathways Immune response IL-4 signaling pathway ²² Signal transduction AKT signaling ²²	11.86	TSC2 TSC1
3	AMPK Enzyme Complex Pathway ⁶⁴ Show member pathways Chromatin Remodeling ⁶⁴	11.81	TSC2 TSC1
4	Integrated breast cancer pathway ⁷⁴	11.75	TSC2 TSC1
5	AMP-activated protein kinase signaling ⁷⁴ Show member pathways AMPK Signaling Pathway ⁶⁷ Leptin and adiponectin ⁷⁴	11.73	TSC2 TSC1
6	mTOR Signaling ⁶⁵	11.7	TSC2 TSC1
7	MTOR signalling ⁶⁶ Show member pathways Energy dependent regulation of mTOR by LKB1-AMPK ⁶⁶ Inhibition of TSC complex formation by PKB ⁶⁶ mTORC1-mediated signalling ⁶⁶ Target of rapamycin signaling ⁷⁴	11.67	TSC2 TSC1
8	Autophagy ⁷⁴ Show member pathways Autophagy during CoV infection ⁷⁴ Host-pathogen interaction of human coronaviruses - autophagy ⁷⁴ Nanoparticle triggered autophagic cell death ⁷⁴ Neurodegeneration with brain iron accumulation (NBIA) subtypes pathway ⁷⁴	11.65	TSC2 TSC1
9	Fragile X syndrome ⁷⁴ Show member pathways Pilocytic astrocytoma ⁷⁴	11.62	TSC2 TSC1
10	Thermogenesis ⁷⁴ Show member pathways mitochondrial L-carnitine shuttle ⁶¹	11.56	TSC2 TSC1
11	PI3K / Akt Signaling ³	11.46	TSC1 TSC2
12	TP53 Regulates Metabolic Genes ⁶⁶	11.42	TSC2 TSC1
13	Clear cell renal cell carcinoma pathways ⁷⁴	11.39	TSC2 TSC1
14	Thyroid hormones production and peripheral downstream signaling effects ⁷⁴	11.35	TSC2 TSC1
15	Head and neck squamous cell carcinoma ⁷⁴	11.27	TSC2 TSC1
16	DYRK1A ⁷⁴	11.16	TSC2 TSC1
17	BDNF-TrkB signaling ⁷⁴ Show member pathways Synaptic signaling pathways associated with autism spectrum disorder ⁷⁴	11.1	TSC2 TSC1
18	T-cell activation SARS-CoV-2 ⁷⁴ Show member pathways T-cell antigen receptor (TCR) pathway during Staphylococcus aureus infection ⁷⁴	10.98	TSC2 TSC1 IFNG
19	mTOR signaling pathway ⁶¹	10.94	TSC2 TSC1
20	LKB1 signaling events ⁶¹	10.72	TSC2 TSC1
21	PI3K/AKT/mTOR - vitamin D3 signaling ⁷⁴	10.3	TSC2 TSC1

Sources

GO Terms for Tuberous Sclerosis 1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	TSC1-TSC2 complex	GO:0033596	8.92	TSC2 TSC1

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

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