MCID: TBR001
MIFTS: 68

Tuberous Sclerosis malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Skin diseases, Fetal diseases, Cancer diseases categories

Summaries for Tuberous Sclerosis

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MedlinePlus:32 Tuberous sclerosis is a rare genetic disease that causes benign tumors to grow in the brain and other organs. symptoms vary, depending on where the tumors grow. they could include skin problems, such as light patches and thickened skin seizures behavior problems intellectual disabilities kidney problems some people have signs of tuberous sclerosis at birth. in others it can take time for the symptoms to develop. the disease can be mild, or it can cause severe disabilities. in rare cases, tumors in vital organs or other symptoms can be life-threatening. tuberous sclerosis has no cure, but treatments can help symptoms. options include medicines, educational and occupational therapy, surgery, or surgery to treat specific complications. nih: national institute of neurological disorders and stroke

MalaCards based summary: Tuberous Sclerosis, also known as tuberous sclerosis syndrome, is related to lymphangioleiomyomatosis and subependymal giant cell astrocytoma, and has symptoms including prominent occiput, eeg abnormality and neoplasm of the nervous system. An important gene associated with Tuberous Sclerosis is TSC2 (tuberous sclerosis 2), and among its related pathways are PI3K / Akt Signaling and Regulation of Telomerase. The compounds aicar and sl 0101-1 have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and brain, and related mouse phenotypes are renal/urinary system and tumorigenesis.

NIH Rare Diseases:41 Tuberous sclerosis is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. common signs and symptoms include 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. tumors may cause developmental problems (e.g., seizures, hyperactivity, aggression, learning problems, autistic-like behaviors). some tumors can cause serious complications (e.g., those affecting the brain, heart, or kidney). tuberous sclerosis complex has an autosomal dominant pattern of inheritance and can be caused by mutations in the tsc1 or tsc2 gene. last updated: 10/29/2010

NINDS:42 Tuberous sclerosis (TSC) is a rare genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin.

Wikipedia:63 Tuberous sclerosis or tuberous sclerosis complex (TSC) is a rare multi-system genetic disease that... more...

Aliases & Classifications for Tuberous Sclerosis

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Sources:
41NIH Rare Diseases, 60UMLS, 9Disease Ontology, 63Wikipedia, 42NINDS, 11DISEASES, 43Novoseek, 47Orphanet, 32MedlinePlus, 22GTR, 55SNOMED-CT, 33MeSH, 38NCIt, 27ICD9CM, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Tuberous Sclerosis, Aliases & Descriptions:

Name: Tuberous Sclerosis 9 63 41 42 11 43 47 32 60
Tuberous Sclerosis Syndrome 9 22
Tuberous Sclerosis Complex 41 47
Tuberous Sclerosis 1 41 60
Bourneville Syndrome 41 47
Cerebral Sclerosis 9 63
Tuberose Sclerosis 9 63
 
Epiloia 9 63
Bourneville Phakomatosis 63
Bourneville's Syndrome 41
Bourneville's Disease 9
Bourneville Disease 63
Sclerosis Tuberosa 63


Classifications:



Characteristics (Orphanet epidemiological data):

47
tuberous sclerosis:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (United States),1-5/10000 (Europe),1-9/100000 (Europe),1-9/100000 (United Kingdom),1-9/100000 (Taiwan, Province of China); Age of onset: Childhood


External Ids:

Disease Ontology9 DOID:13515
MeSH33 D014402
NCIt38 C3424
ICD9CM27 759.5
Orphanet47 805
MESH via Orphanet34 D014402
ICD10 via Orphanet26 Q85.1
UMLS via Orphanet61 C0041341
ICD1025 Q85.1

Related Diseases for Tuberous Sclerosis

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Diseases in the Tuberous Sclerosis family:

Tuberous Sclerosis-1

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

(show top 50)    (show all 241)
idRelated DiseaseScoreTop Affiliating Genes
1lymphangioleiomyomatosis32.2TSC1, TSC2
2subependymal giant cell astrocytoma32.0TSC2, TSC1, MTOR
3tuberous sclerosis-131.8TSC1, TSC2
4kidney disease31.6MTOR
5angiomyolipoma31.5TSC2, TSC1, CCL26, MTOR, RPS6, RHEB
6polycystic kidney disease31.3PKD1, MTOR, TSC2
7west syndrome31.1TSC1, TSC2
8perivascular epithelioid cell tumor31.0RHEB, TSC2
9kidney angiomyolipoma31.0TSC2, TSC1, MTOR
10ganglioglioma30.9GFAP, TSC2, TSC1
11mental retardation30.7TSC2, TSC1, CCL26, MTOR, RHOD
12von hippel-lindau syndrome30.4PKD1, TSC2
13peutz-jeghers syndrome30.3TSC2, TSC1, STK11, MTOR
14astrocytoma30.3PIK3CA, GFAP, TSC2, TSC1, STK11, RAP1A
15kidney cancer30.2PIK3CA, TSC2, MTOR
16adenoma29.6CDKN1B, GSR, STK11, TSC1
17adenocarcinoma29.3PIK3CA, TSC2, TSC1, STK11, CCL26, RPS6KB1
18hepatocellular carcinoma29.2PIK3CA, STK11, MTOR, RPS6KB1, RHOD, CDKN1B
19leukemia29.2PIK3CA, MTOR, RPS6KB1, RAP1A, EIF4EBP1, CDKN1B
20pancreatic cancer29.0PIK3CA, STK11, MTOR, RPS6KB1, RHOD, EIF4EBP1
21melanoma28.9PIK3CA, TSC2, STK11, MTOR, RPS6KA1, RAP1A
22prostate cancer28.2PIK3CA, MTOR, PKD1, RPS6, RPS6KB1, GSR
23polycystic kidney disease, infantile severe, with tuberous sclerosis10.7
24cerebritis10.7
25renal cell carcinoma10.6
26aneurysm10.6
27hepatitis10.6
28pancreatitis10.6
29neurofibromatosis10.5
30retinitis10.5
31tsc2 angiomyolipomas, renal, modifier of10.5
32hemimegalencephaly10.5
33fibroma10.5
34chordoma10.5
35giant cell tumor10.5
36hepatic angiomyolipoma10.5
37intracranial aneurysm10.5
38weber syndrome10.5
39neurofibromatosis, type 110.4
40neuronitis10.4
41wolff-parkinson-white syndrome10.4
42lymphedema10.4
43autism spectrum disorder10.4
44sleep disorder10.4
45gigantism10.4
46alexander disease10.4GFAP
47cystic kidney10.3PKD1, TSC2
48polycystic kidney and hepatic disease10.3PKD1, TSC2
49renal oncocytoma10.3
50neuroendocrine tumor10.3

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



Diseases related to tuberous sclerosis

Symptoms for Tuberous Sclerosis

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Symptoms:

 47 (show all 44)
  • prominent occiput/occipital bossing
  • follicular/erythematous/edematous papules/milium
  • cutaneous neurofibromas/facial angiofibromas/koenen tumors
  • adenoma sebaceum
  • pedunculated skin lesions
  • eeg anomalies
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
  • autosomal dominant inheritance
  • retinal hamartoma
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • macules
  • irregular/patchy skin hypopigmentation
  • cafe-au-lait spot
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • ungual/paraungual fibromas (fingernails)
  • ungual/parungual fibromas (toenails)
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • psychic/behavioural troubles
  • coloboma of iris
  • gingivitis
  • enamel anomaly
  • macrodactyly/fingers hypertrophy/megalodactyly (hand)
  • structural anomalies of the liver and the biliary tract
  • structural anomalies of the pancreas
  • structural anomalies of the respiratory system and diaphragm
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • emphysema
  • visceral angiomatosis (excluding skin)
  • cardiac rhythm disorder/arrhythmia
  • heart/cardiac failure
  • arterial aneurism (excluding aorta)
  • lymphangioma/lymphatic malformations
  • polycystic kidneys
  • renal failure
  • hypothyroidy
  • precocious puberty
  • corpus callosum/septum pellucidum total/partial agenesis
  • intracranial/cerebral calcifications
  • cranial hypertension
  • heart/cardiac tumor
  • kidney/renal neoplasm/tumor/carcinoma/cancer

HPO human phenotypes related to Tuberous Sclerosis:

(show all 36)
id Description Frequency HPO Source Accession
1 prominent occiput hallmark (90%) HP:0000269
2 eeg abnormality hallmark (90%) HP:0002353
3 neoplasm of the nervous system hallmark (90%) HP:0004375
4 adenoma sebaceum hallmark (90%) HP:0009720
5 optic atrophy typical (50%) HP:0000648
6 behavioral abnormality typical (50%) HP:0000708
7 cafe-au-lait spot typical (50%) HP:0000957
8 hypermelanotic macule typical (50%) HP:0001034
9 hypopigmented skin patches typical (50%) HP:0001053
10 seizures typical (50%) HP:0001250
11 retinal hamartoma typical (50%) HP:0009594
12 cognitive impairment typical (50%) HP:0100543
13 ungual fibroma typical (50%) HP:0100804
14 renal insufficiency occasional (7.5%) HP:0000083
15 polycystic kidney dysplasia occasional (7.5%) HP:0000113
16 gingivitis occasional (7.5%) HP:0000230
17 iris coloboma occasional (7.5%) HP:0000612
18 abnormality of dental enamel occasional (7.5%) HP:0000682
19 hypothyroidism occasional (7.5%) HP:0000821
20 precocious puberty occasional (7.5%) HP:0000826
21 abnormality of the liver occasional (7.5%) HP:0001392
22 congestive heart failure occasional (7.5%) HP:0001635
23 abnormality of the pancreas occasional (7.5%) HP:0001732
24 respiratory insufficiency occasional (7.5%) HP:0002093
25 emphysema occasional (7.5%) HP:0002097
26 abnormality of the pleura occasional (7.5%) HP:0002103
27 cerebral calcification occasional (7.5%) HP:0002514
28 increased intracranial pressure occasional (7.5%) HP:0002516
29 aneurysm occasional (7.5%) HP:0002617
30 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
31 renal neoplasm occasional (7.5%) HP:0009726
32 arrhythmia occasional (7.5%) HP:0011675
33 neoplasm of the heart occasional (7.5%) HP:0100544
34 macrodactyly of finger occasional (7.5%) HP:0100746
35 visceral angiomatosis occasional (7.5%) HP:0100761
36 lymphangioma occasional (7.5%) HP:0100764

Drugs & Therapeutics for Tuberous Sclerosis

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Drug clinical trials:

Search ClinicalTrials for Tuberous Sclerosis

Search NIH Clinical Center for Tuberous Sclerosis

Genetic Tests for Tuberous Sclerosis

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Genetic tests related to Tuberous Sclerosis:

id Genetic test Affiliating Genes
1 Tuberous Sclerosis Syndrome22

Anatomical Context for Tuberous Sclerosis

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MalaCards organs/tissues related to Tuberous Sclerosis:

31
Skin, Kidney, Brain, Heart, Lung, Eye, Liver, Pancreas, Bone, Cortex, Endothelial, Smooth muscle, Lymph node, Adipocyte, Uterus, Testes, T cells, Fetal brain, Cerebellum, Small intestine, Colon, Thyroid, Breast, Ovary, Prostate, Testis, Cervix, Temporal lobe, Pancreatic islet, Spinal cord, Caudate nucleus

Animal Models for Tuberous Sclerosis or affiliated genes

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MGI Mouse Phenotypes related to Tuberous Sclerosis:

35 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.1TSC2, TSC1, STK11, MTOR, PKD1, CDKN1B
2MP:00020069.0PIK3CA, TSC2, TSC1, STK11, PKD1, RPS6KB1
3MP:00053708.9TSC2, TSC1, STK11, PKD1, RPS6, CDKN1B
4MP:00053898.7PIK3CA, TSC2, TSC1, STK11, PKD1, RPS6KB1
5MP:00107718.6PIK3CA, TSC2, TSC1, STK11, PKD1, CDKN1B
6MP:00028738.6GFAP, TSC2, STK11, MTOR, PKD1, GSR
7MP:00053808.6PIK3CA, TSC2, TSC1, STK11, MTOR, PKD1
8MP:00053758.4PIK3CA, MTOR, PKD1, EIF4EBP1, CDKN1B
9MP:00053798.4PIK3CA, TSC2, TSC1, STK11, PKD1, RPS6
10MP:00053978.3STK11, MTOR, PKD1, RPS6KB1, RAP1A, CDKN1B
11MP:00053698.3PIK3CA, GFAP, TSC1, STK11, MTOR, PKD1
12MP:00053868.1PIK3CA, GFAP, TSC2, TSC1, STK11, MTOR
13MP:00053877.7PIK3CA, GFAP, STK11, MTOR, PKD1, RPS6KB1
14MP:00036317.6PIK3CA, GFAP, TSC2, TSC1, STK11, MTOR
15MP:00053787.2PIK3CA, GFAP, TSC2, TSC1, STK11, MTOR
16MP:00053766.7STK11, TSC1, TSC2, GFAP, PIK3CA, MTOR
17MP:00107686.6STK11, TSC1, TSC2, GFAP, PIK3CA, MTOR
18MP:00053856.6CDKN1B, PIK3CA, GFAP, TSC2, TSC1, STK11
19MP:00053846.1STK11, TSC1, TSC2, GFAP, PIK3CA, MTOR

Publications for Tuberous Sclerosis

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Articles related to Tuberous Sclerosis:

(show top 50)    (show all 1242)
idTitleAuthorsYear
1
Age-related changes of susceptibility-weighted imaging in subependymal nodules of neonates and children with tuberous sclerosis complex. (25907013)
2015
2
Multiple ungual fibromas as an only cutaneous manifestation of tuberous sclerosis complex. (25201855)
2014
3
Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. (25364257)
2014
4
Recovery of chylous pulmonary congestion in tuberous sclerosis complex-associated lymphangioleiomyomatosis. (25326562)
2014
5
Fetal and Postnatal Magnetic Resonance Imaging of Unilateral Cystic Renal Dysplasia in a Neonate with Tuberous Sclerosis. (24495558)
2014
6
Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation. (22805177)
2013
7
Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex. (24271014)
2013
8
Giant pilomatricoma in a patient with tuberous sclerosis, both diagnosed in the adult life. (23988820)
2013
9
The ability of high field strength 7-T magnetic resonance imaging to reveal previously uncharacterized brain lesions in patients with tuberous sclerosis complex. (23289918)
2013
10
Polycystic kidney disease and chronic renal failure in tuberous sclerosis. (24092520)
2013
11
Vigabatrin and mental retardation in tuberous sclerosis: infantile spasms versus focal seizures. (22752486)
2013
12
T2 weighted MRI for assessing renal lesions in transgenic mouse models of tuberous sclerosis. (21802234)
2012
13
Enhanced GABAergic network and receptor function in pediatric cortical dysplasia Type IIB compared with Tuberous Sclerosis Complex. (21889982)
2012
14
Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population. (21266383)
2011
15
Facial unilateral angiofibromas: a postzygotic tuberous sclerosis like mutation. (22016299)
2011
16
Effects of rapamycin on angiomyolipomas in patients with tuberous sclerosis. (21629335)
2011
17
Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review. (21692602)
2011
18
Neuropsychological attention skills and related behaviours in adults with tuberous sclerosis complex. (21191642)
2011
19
The morphologic spectrum of uterine PEC-cell associated tumors in a patient with tuberous sclerosis. (21293289)
2011
20
Genetic analysis of tuberous-sclerosis genes 1 and 2 in nonlesional focal epilepsy. (21555252)
2011
21
Intractable epilepsy in tuberous sclerosis: is the tuber removal not enough? (21175458)
2010
22
Prenatal diagnosis of rhabdomyomas and cerebral tuberous sclerosis by magnetic resonance imaging in one fetus of a dizygotic twin pregnancy associated with a frameshift mutation in the TSC2 gene. (21056333)
2010
23
The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway. (18845692)
2009
24
Epilepsy surgery and tuberous sclerosis complex: special considerations. (18759614)
2008
25
Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers. (18350576)
2008
26
Metastatic breast carcinoma to renal angiomyolipomas in tuberous sclerosis. (18308125)
2008
27
Mechanisms of epileptogenesis in tuberous sclerosis complex and related malformations of cortical development with abnormal glioneuronal proliferation. (17727667)
2008
28
The correlation between 1H-MR spectroscopy and clinical manifestation with tuberous sclerosis complex. (17985261)
2007
29
The Birt-Hogg-Dube and tuberous sclerosis complex homologs have opposing roles in amino acid homeostasis in Schizosaccharomyces pombe. (17556368)
2007
30
Selective inhibition of growth of tuberous sclerosis complex 2 null cells by atorvastatin is associated with impaired Rheb and Rho GTPase function and reduced mTOR/S6 kinase activity. (17942919)
2007
31
A defect in protein farnesylation suppresses a loss of Schizosaccharomyces pombe tsc2+, a homolog of the human gene predisposing to tuberous sclerosis complex. (16624901)
2006
32
Turnover of the active fraction of IRS1 involves raptor-mTOR- and S6K1-dependent serine phosphorylation in cell culture models of tuberous sclerosis. (16914728)
2006
33
Effect of melatonin dosage on sleep disorder in tuberous sclerosis complex. (15791928)
2005
34
Phosphorylation of tuberin as a novel mechanism for somatic inactivation of the tuberous sclerosis complex proteins in brain lesions. (14871804)
2004
35
Conservative management of pulmonary lymphangioleiomyomatosis and tuberous sclerosis complicated by renal angiomyolipomas in pregnancy. (15209123)
2004
36
Tuberous sclerosis with hypothyroidism and precocious puberty. (15080418)
2004
37
Tuberous sclerosis: immunohistochemistry expression of tuberin and hamartin in a 31-week gestational fetus. (16095035)
2004
38
14-3-3beta binds to and negatively regulates the tuberous sclerosis complex 2 (TSC2) tumor suppressor gene product, tuberin. (12468542)
2003
39
Rheb binds tuberous sclerosis complex 2 (TSC2) and promotes S6 kinase activation in a rapamycin- and farnesylation-dependent manner. (12842888)
2003
40
Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex. (12015165)
2002
41
Phosphatidylinositol 3-kinase/Akt pathway regulates tuberous sclerosis tumor suppressor complex by phosphorylation of tuberin. (12167664)
2002
42
Ophthalmic manifestations of tuberous sclerosis: a population based study. (11264130)
2001
43
Early diagnosis of subependymal giant cell astrocytoma in patients with tuberous sclerosis. (9568761)
1998
44
Multifocal alveolar hyperplasia associated with lymphangioleiomyomatosis in tuberous sclerosis. (9205862)
1997
45
Localization of tuberous sclerosis 2 mRNA and its protein product tuberin in normal human brain and in cerebral lesions of patients with tuberous sclerosis. (8944308)
1996
46
Tissue and cell-type specific expression of the tuberous sclerosis gene, TSC2, in human tissues. (8933518)
1996
47
An autopsy case of tuberous sclerosis. Histological and immunohistochemical study. (1457992)
1992
48
Factor XIIIa in the hamartomas of tuberous sclerosis. (1675869)
1991
49
Hepatic angiomyolipoma in a tuberous sclerosis patient. (2401620)
1990
50
Subependymal giant-cell astrocytoma associated with tuberous sclerosis. Do subependymal nodules grow? (2702677)
1989

Variations for Tuberous Sclerosis

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Clinvar genetic disease variations for Tuberous Sclerosis:

6 (show all 25)
id Gene Variation Type Significance SNP ID Assembly Location
1TSC2TSC2, 1-BP DEL, 5110AdeletionPathogenic
2TSC2NM_000548.3(TSC2): c.4642delC (p.Leu1548Cysfs)deletionPathogenicrs137854083GRCh37Chr 16, 2135303: 2135303
3TSC2NM_000548.3(TSC2): c.5024C> T (p.Pro1675Leu)single nucleotide variantPathogenicrs45483392GRCh37Chr 16, 2137898: 2137898
4TSC2NM_000548.3(TSC2): c.34A> T (p.Lys12Ter)single nucleotide variantPathogenicrs45512692GRCh37Chr 16, 2098650: 2098650
5TSC2NM_000548.3(TSC2): c.2056_2059dupTACT (p.Ser687Leufs)duplicationPathogenicrs137854337GRCh37Chr 16, 2121894: 2121897
6TSC2NM_000548.3(TSC2): c.1513C> T (p.Arg505Ter)single nucleotide variantPathogenicrs45517179GRCh37Chr 16, 2114342: 2114342
7TSC2NM_000548.3(TSC2): c.1832G> A (p.Arg611Gln)single nucleotide variantPathogenicrs28934872GRCh37Chr 16, 2120572: 2120572
8TSC2NM_000548.3(TSC2): c.2150T> G (p.Leu717Arg)single nucleotide variantPathogenicrs45517214GRCh37Chr 16, 2122294: 2122294
9TSC2NM_000548.3(TSC2): c.1432C> T (p.Gln478Ter)single nucleotide variantPathogenicrs121964862GRCh37Chr 16, 2113043: 2113043
10TSC2NM_000548.3(TSC2): c.4508A> C (p.Gln1503Pro)single nucleotide variantPathogenicrs45516293GRCh37Chr 16, 2134966: 2134966
11TSC2NM_000548.3(TSC2): c.5238_5255del18 (p.His1746_Arg1751del)deletionPathogenicrs137854225GRCh37Chr 16, 2138305: 2138322
12TSC2NM_000548.3(TSC2): c.2714G> A (p.Arg905Gln)single nucleotide variantPathogenicrs45517259GRCh37Chr 16, 2126143: 2126143
13TSC2NM_000548.3(TSC2): c.2713C> T (p.Arg905Trp)single nucleotide variantPathogenicrs45517258GRCh37Chr 16, 2126142: 2126142
14TSC2NM_000548.3(TSC2): c.2713C> G (p.Arg905Gly)single nucleotide variantPathogenicrs45517258GRCh37Chr 16, 2126142: 2126142
15TSC2NM_000548.3(TSC2): c.2355+2_2355+5delTAGGdeletionPathogenicrs137854250GRCh37Chr 16, 2122986: 2122989
16TSC2NM_000548.3(TSC2): c.1322G> A (p.Trp441Ter)single nucleotide variantPathogenicrs45515894GRCh37Chr 16, 2112562: 2112562
17TSC1NM_000368.4(TSC1): c.812_813delAT (p.Tyr271Terfs)deletionPathogenicrs118203451GRCh37Chr 9, 135787769: 135787770
18TSC2NM_000548.3(TSC2): c.5138G> A (p.Arg1713His)single nucleotide variantPathogenicrs45517395GRCh37Chr 16, 2138118: 2138118
19TSC1NM_000368.4(TSC1): c.1888_1891delAAAG (p.Lys630Glnfs)deletionPathogenicrs118203595GRCh37Chr 9, 135781074: 135781077
20TSC1NM_000368.4(TSC1): c.749T> A (p.Leu250Ter)single nucleotide variantPathogenicrs118203447GRCh37Chr 9, 135787833: 135787833
21TSC1NM_000368.4(TSC1): c.1760A> G (p.Lys587Arg)single nucleotide variantPathogenicrs118203576GRCh37Chr 9, 135781205: 135781205
22TSC1NM_000368.4(TSC1): c.1904_1905delCA (p.Thr635Argfs)deletionPathogenicrs118203598GRCh37Chr 9, 135781060: 135781061
23TSC1NM_000368.4(TSC1): c.1671_1693del23 (p.Ser561Argfs)deletionPathogenicrs118203557GRCh37Chr 9, 135781272: 135781294
24TSC1NM_000368.4(TSC1): c.671T> G (p.Met224Arg)single nucleotide variantPathogenicrs118203426GRCh37Chr 9, 135796816: 135796816
25TSC1NM_000368.4(TSC1): c.539T> C (p.Leu180Pro)single nucleotide variantPathogenicrs118203396GRCh37Chr 9, 135797330: 135797330

Expression for genes affiliated with Tuberous Sclerosis

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Search GEO for disease gene expression data for Tuberous Sclerosis.

Pathways for genes affiliated with Tuberous Sclerosis

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

(show top 50)    (show all 69)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8PIK3CA, TSC2, TSC1
29.7MTOR, RPS6KB1, CDKN1B
39.6CDKN1B, RPS6KB1, PIK3CA
49.6TSC2, TSC1, STK11, MTOR
59.5TSC2, TSC1, RPS6KB1, CDKN1B
69.5PIK3CA, CCL26, MTOR, RPS6KB1
7
Show member pathways
9.4CDKN1B, MTOR, TSC2, PIK3CA
8
Show member pathways
IL-2 Signaling pathway36
9.4RPS6KB1, RPS6, PIK3CA
99.3PIK3CA, TSC2, MTOR, RHEB
10
Show member pathways
IFN-gamma pathway36
9.3RAP1A, MTOR, PIK3CA
11
Show member pathways
Signaling Pathways in Glioblastoma36
9.2CDKN1B, MTOR, TSC1, TSC2, PIK3CA
12
Show member pathways
IL2 signaling events mediated by STAT536
9.2RPS6KB1, RPS6, MTOR, PIK3CA
139.2PIK3CA, MTOR, RPS6, RPS6KB1
14
Show member pathways
9.2CDKN1B, MTOR, TSC2, GFAP, PIK3CA
15
Show member pathways
Insulin Pathway36
9.1EIF4EBP1, RPS6KB1, PIK3CA
16
Show member pathways
9.1PIK3CA, MTOR, EIF4EBP1
17
Show member pathways
Development Role of HDAC and calcium calmodulin dependent kinase CaMK in control of skeletal myogenesis58
9.1PIK3CA, TSC2, MTOR, RPS6KB1, RHEB
18
Show member pathways
9.0PIK3CA, MTOR, RPS6KA1, RHEB
198.8MTOR, RAP1A, EIF4EBP1
20
Show member pathways
MAPK Cascade36
Immune response Oncostatin M signaling via MAPK in human cells58
Oncostatin M Signaling Pathway36
8.8CDKN1B, RAP1A, RPS6, MTOR
21
Show member pathways
8.7EIF4EBP1, RPS6KB1, STK11, TSC1, TSC2
22
Show member pathways
Translation Non genomic rapid action of Androgen Receptor58
8.7EIF4EBP1, RPS6KB1, MTOR, TSC2, PIK3CA
23
Show member pathways
Development Activation of ERK by Alpha 1 adrenergic receptors58
8.6TSC2, MTOR, RPS6KB1, RHEB, EIF4EBP1
248.6EIF4EBP1, RPS6, MTOR, PIK3CA
25
Show member pathways
ErbB receptor signaling network36
ErbB signaling pathway36
8.6PIK3CA, MTOR, RPS6KB1, EIF4EBP1, CDKN1B
268.5PIK3CA, STK11, RAP1A, RHEB, CDKN1B
278.5TSC2, TSC1, STK11, MTOR, RAP1A, RHEB
28
Show member pathways
8.5TSC2, TSC1, CCL26, RPS6KB1, EIF4EBP1, CDKN1B
29
Show member pathways
Cytoskeleton remodeling FAK signaling58
Development Endothelin 1 EDNRA transactivation of EGFR58
8.5PIK3CA, TSC2, MTOR, RPS6KB1, RAP1A, RHEB
30
Show member pathways
8.3PIK3CA, TSC2, MTOR, RPS6KA1, RAP1A, CDKN1B
31
Show member pathways
Prolactin Signaling Pathway36
Development Prolactin receptor signaling58
Leptin signaling pathway36
8.3PIK3CA, MTOR, RPS6, RPS6KB1, EIF4EBP1
328.3TSC2, TSC1, MTOR, RPS6, RPS6KB1, EIF4EBP1
33
Show member pathways
Signal transduction PTEN pathway58
8.3PIK3CA, TSC2, MTOR, RPS6KB1, RHEB, EIF4EBP1
348.2PIK3CA, TSC2, TSC1, STK11, MTOR, RPS6KB1
358.1TSC2, TSC1, MTOR, RPS6KB1, RHEB, EIF4EBP1
368.1TSC2, MTOR, RPS6, RPS6KB1, RHEB, EIF4EBP1
378.0PIK3CA, MTOR, RPS6, RPS6KB1, EIF4EBP1, CDKN1B
38
Show member pathways
mTOR signaling pathway36
7.9EIF4EBP1, RHEB, RPS6KB1, RPS6KA1, MTOR, TSC1
397.8PIK3CA, MTOR, RPS6KA1, RPS6, RPS6KB1, RAP1A
40
Show member pathways
IL-9 Signaling Pathway36
Development Thrombopoietin regulated cell processes58
IL-7 Signaling Pathway36
Immune response IL 9 signaling pathway58
7.8PIK3CA, MTOR, RPS6KA1, RPS6, RPS6KB1, RAP1A
41
Show member pathways
Prostate Cancer36
Integrated Cancer pathway36
Steroid Biosynthesis36
7.7PIK3CA, TSC2, TSC1, MTOR, RAP1A, RHEB
427.6PIK3CA, TSC2, TSC1, MTOR, RPS6KA1, RPS6KB1
43
Show member pathways
7.5GFAP, TSC2, TSC1, STK11, CCL26, RPS6KA1
447.4TSC2, MTOR, RPS6KA1, RPS6, RPS6KB1, RAP1A
45
Show member pathways
7.4TSC2, TSC1, STK11, RPS6KA1, RPS6, RPS6KB1
46
Show member pathways
7.2EIF4EBP1, RHEB, RPS6KB1, RPS6, MTOR, STK11
476.9PIK3CA, TSC2, TSC1, STK11, MTOR, RPS6
48
Show member pathways
Transcription Receptor mediated HIF regulation58
Development CNTF receptor signaling58
Class IB PI3K non-lipid kinase events36
ErbB2/ErbB3 signaling events36
Development Growth hormone signaling via PI3K AKT and MAPK cascades58
Translation Regulation activity of EIF258
Regulation of lipid metabolism Insulin signaling generic cascades58
Transcription PPAR Pathway58
Cell adhesion PLAU signaling58
Translation Regulation activity of EIF4F58
6.8STK11, TSC1, TSC2, PIK3CA, MTOR, RPS6KA1
49
Show member pathways
Development IGF RI signaling
Immune response IL 4 signaling pathway58
Signal transduction AKT signaling58
6.8CDKN1B, EIF4EBP1, RHEB, RPS6KB1, RPS6, RPS6KA1
50
Show member pathways
5.1GFAP, PIK3CA, TSC2, TSC1, STK11, CDKN1B

Compounds for genes affiliated with Tuberous Sclerosis

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Compounds related to Tuberous Sclerosis according to GeneCards Suite gene sharing:

(show top 50)    (show all 80)
idCompoundScoreTop Affiliating Genes
1aicar43 24 1211.9RPS6KB1, MTOR, STK11
2sl 0101-1599.8RPS6KA1, RPS6KB1
3ptdins(3)p439.7RHOD, RPS6KB1, PIK3CA
4brd 7389599.7RPS6KB1, RPS6KA1
5bromodeoxyuridine439.6CDKN1B, RPS6KB1, GFAP, PIK3CA
6pf 4708671599.5RPS6KA1, RPS6KB1
7paraffin439.5GFAP, TSC2, TSC1, STK11, CDKN1B
8erlotinib43 49 1211.4PIK3CA, MTOR, RPS6, CDKN1B
9imatinib43 49 1211.3CDKN1B, RPS6, MTOR, PIK3CA
10guanosine43 24 1211.3RHOD, RAP1A, TSC1, TSC2
11resveratrol43 59 24 1212.2PIK3CA, MTOR, RPS6, RPS6KB1, CDKN1B
12testosterone43 59 24 1212.2PIK3CA, GFAP, TSC2, MTOR, PKD1, CDKN1B
13okadaic acid43 5910.0PIK3CA, TSC2, MTOR, RPS6KB1, EIF4EBP1
14alanine439.0GFAP, TSC1, STK11, PKD1, GSR, CDKN1B
15agar439.0CDKN1B, RAP1A, GFAP, PIK3CA
16everolimus43 49 1210.9PIK3CA, TSC2, TSC1, MTOR, RPS6KB1, EIF4EBP1
17estrogen438.9PIK3CA, GFAP, TSC2, MTOR, RPS6KB1, GSR
18dmso438.9PIK3CA, RPS6KB1, EIF4EBP1, CDKN1B
19superoxide43 249.8PIK3CA, GFAP, CCL26, GSR, RAP1A
20genistein43 28 59 2 24 1213.6PIK3CA, GFAP, MTOR, RPS6KB1, GSR, RHOD
21thymidine43 249.6PIK3CA, GFAP, RPS6, RPS6KB1, RHOD, CDKN1B
2212-o-tetradecanoylphorbol 13-acetate438.6MTOR, RPS6KB1, RAP1A, EIF4EBP1, CDKN1B
23arachidonic acid43 28 24 1211.6PIK3CA, MTOR, RPS6, RPS6KB1, EIF4EBP1
24dexamethasone43 49 28 1211.6PIK3CA, GFAP, MTOR, RPS6KB1, EIF4EBP1, CDKN1B
25glutamine438.4GFAP, RPS6KB1, RAP1A, EIF4EBP1, CDKN1B
26paclitaxel43 49 1210.4PIK3CA, GFAP, RPS6KB1, RHOD, EIF4EBP1, CDKN1B
27cisplatin43 49 59 1211.3PIK3CA, GFAP, MTOR, RPS6KB1, GSR, EIF4EBP1
28cyclic amp43 249.2GFAP, STK11, RPS6KA1, RPS6KB1, RAP1A, RHOD
29glutamate438.2PIK3CA, GFAP, PKD1, RPS6KA1, RPS6KB1, GSR
30gtp43 289.0PIK3CA, TSC2, MTOR, RPS6, RAP1A, RHEB
31adenylate438.0PIK3CA, GFAP, TSC2, STK11, GSR, RAP1A
32leucine438.0PIK3CA, GFAP, TSC2, MTOR, RPS6, RPS6KB1
33wortmannin437.7PIK3CA, TSC2, MTOR, RPS6, RPS6KB1, RHOD
34retinoic acid43 248.7PIK3CA, GFAP, MTOR, RPS6KA1, RPS6, RPS6KB1
35arginine437.7PIK3CA, GFAP, TSC2, MTOR, GSR, RAP1A
36pd 98,059437.5PIK3CA, GFAP, TSC1, MTOR, RPS6KA1, RPS6KB1
37calcium43 49 24 1210.3PIK3CA, GFAP, STK11, CCL26, MTOR, PKD1
38glucose437.1TSC1, TSC2, GFAP, PIK3CA, STK11, MTOR
39glycogen43 248.1PIK3CA, GFAP, TSC2, CDKN1B, EIF4EBP1, RPS6KB1
40lipid437.0PIK3CA, GFAP, TSC2, STK11, MTOR, RPS6KB1
41oxygen43 247.8GFAP, TSC2, STK11, CCL26, MTOR, RPS6KB1
42atp43 287.8PIK3CA, GFAP, TSC2, STK11, CCL26, MTOR
43ly294002436.7CDKN1B, EIF4EBP1, RHOD, RAP1A, RPS6KB1, RPS6
44phosphoinositide436.6CDKN1B, EIF4EBP1, RHOD, RHEB, RAP1A, RPS6KB1
45vegf436.4STK11, TSC1, TSC2, GFAP, PIK3CA, MTOR
46phosphatidylinositol436.2MTOR, TSC1, TSC2, PIK3CA, PKD1, RPS6KA1
47tyrosine435.9MTOR, TSC1, TSC2, GFAP, PIK3CA, PKD1
48rapamycin435.9STK11, TSC1, TSC2, PIK3CA, CCL26, MTOR
49threonine435.7CDKN1B, EIF4EBP1, RHOD, RAP1A, RPS6KB1, RPS6
50serine435.3CDKN1B, GFAP, PIK3CA, TSC2, TSC1, EIF4EBP1

GO Terms for genes affiliated with Tuberous Sclerosis

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

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol 3-kinase complexGO:00059429.9PIK3CA, MTOR
2TSC1-TSC2 complexGO:00335969.8TSC1, TSC2
3membraneGO:00160208.8GFAP, TSC2, TSC1, STK11, MTOR, RHEB
4cytoplasmGO:00057376.1CDKN1B, GFAP, EIF4EBP1, RAP1A, RPS6KB1, RPS6
5cytosolGO:00058294.8RPS6KB1, RHOD, EIF4EBP1, CDKN1B, RAP1A, GSR

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1activation of Rho GTPase activityGO:003286210.2TSC1, TBC1D7
2negative regulation of TOR signalingGO:003200710.2TSC2, TSC1, TBC1D7
3negative regulation of cell sizeGO:004579210.2MTOR, TSC1, TSC2
4response to glucagonGO:003376210.1RPS6KB1, STK11
5negative regulation of epithelial cell proliferation involved in prostate gland developmentGO:006077010.1CDKN1B, STK11
6protein heterooligomerizationGO:005129110.1TSC2, TSC1, STK11
7regulation of protein kinase activityGO:004585910.0MTOR, TSC1
8protein kinase B signalingGO:004349110.0RPS6KB1, TSC2, PIK3CA
9vasculature developmentGO:00019449.8STK11, PIK3CA
10fibroblast growth factor receptor signaling pathwayGO:00085439.7PIK3CA, TSC2, MTOR, CDKN1B
11Fc-epsilon receptor signaling pathwayGO:00380959.7PIK3CA, TSC2, MTOR, CDKN1B
12epidermal growth factor receptor signaling pathwayGO:00071739.7CDKN1B, MTOR, TSC2, PIK3CA
13response to amino acidGO:00432009.6CDKN1B, MTOR
14negative regulation of cell proliferationGO:00082859.6CDKN1B, STK11, TSC1, TSC2
15phosphatidylinositol-mediated signalingGO:00480159.5PIK3CA, TSC2, MTOR, RPS6KB1, CDKN1B
16positive regulation of mitotic cell cycleGO:00459319.4EIF4EBP1, RPS6KB1
17G1/S transition of mitotic cell cycleGO:00000829.2RPS6KB1, EIF4EBP1, CDKN1B
18cell cycle arrestGO:00070509.2TSC2, TSC1, STK11, PKD1, RHEB, CDKN1B
19innate immune responseGO:00450879.2PIK3CA, TSC2, MTOR, RPS6KA1, CDKN1B
20TOR signalingGO:00319299.0MTOR, RPS6, RPS6KB1, EIF4EBP1
21neurotrophin TRK receptor signaling pathwayGO:00480118.7PIK3CA, TSC2, MTOR, RPS6KA1, RAP1A, CDKN1B
22signal transductionGO:00071658.5CCL26, MTOR, RPS6KA1, RPS6KB1, RAP1A, RHEB
23insulin receptor signaling pathwayGO:00082867.6EIF4EBP1, PIK3CA, TSC2, TSC1, STK11, MTOR

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

idNameGO IDScoreTop Affiliating Genes
1protein kinase activator activityGO:00302959.6STK11, PIK3CA
2protein complex bindingGO:00324039.3CDKN1B, RAP1A, STK11
3protein serine/threonine kinase activityGO:00046749.1PIK3CA, STK11, MTOR, RPS6KA1
4protein bindingGO:00055155.4CDKN1B, PIK3CA, TSC2, TSC1, STK11, MTOR

Products for genes affiliated with Tuberous Sclerosis

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  • Antibodies
  • Proteins
  • Lysates
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  • Kits and Assays

Sources for Tuberous Sclerosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet