MCID: TBR001
MIFTS: 78

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:34 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 brd 7389 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:43 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:44 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:65 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:
43NIH Rare Diseases, 62UMLS, 10Disease Ontology, 65Wikipedia, 44NINDS, 12DISEASES, 45Novoseek, 49Orphanet, 34MedlinePlus, 24GTR, 57SNOMED-CT, 35MeSH, 40NCIt, 29ICD9CM, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet, 27ICD10
See all sources

Tuberous Sclerosis, Aliases & Descriptions:

Name: Tuberous Sclerosis 10 65 43 44 12 45 49 34 62
Tuberous Sclerosis Syndrome 10 24 62
Tuberous Sclerosis Complex 43 49 62
Bourneville's Syndrome 43 62
Bourneville Syndrome 43 49
Tuberous Sclerosis 1 43 62
Bourneville Disease 65 62
 
Cerebral Sclerosis 10 65
Tuberose Sclerosis 10 65
Epiloia 10 65
Phacomatosis, Bourneville 62
Bourneville Phakomatosis 65
Bourneville's Disease 10
Sclerosis Tuberosa 65


Classifications:



Characteristics (Orphanet epidemiological data):

49
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 Ontology10 DOID:13515
MeSH35 D014402
NCIt40 C3424
ICD9CM29 759.5
Orphanet49 805
MESH via Orphanet36 D014402
ICD10 via Orphanet28 Q85.1
UMLS via Orphanet63 C0041341
ICD1027 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/GeneDecks gene sharing:

(show top 50)    (show all 241)
idRelated DiseaseScoreTop Affiliating Genes
1lymphangioleiomyomatosis31.6TSC1, TSC2
2subependymal giant cell astrocytoma31.5TSC2, TSC1, MTOR
3angiomyolipoma31.5RHEB, MTOR, CCL26, TSC1, TSC2, RPS6
4astrocytoma31.4TSC2, RHOD, GFAP, PIK3CA, RAP1A, CDKN1B
5tuberous sclerosis-131.2TSC1, TSC2
6kidney disease31.0MTOR
7polycystic kidney disease31.0PKD1, TSC2, MTOR
8west syndrome30.6TSC1, TSC2
9mental retardation30.6TSC2, RHOD, TSC1, MTOR, CCL26
10kidney angiomyolipoma30.5MTOR, TSC1, TSC2
11ganglioglioma30.5GFAP, TSC1, TSC2
12perivascular epithelioid cell tumor30.4RHEB, TSC2
13adenocarcinoma30.4CDKN1B, EIF4EBP1, RHOD, RPS6KB1, TSC1, TSC2
14melanoma30.1CDKN1B, EIF4EBP1, RAP1A, RPS6KA1, MTOR, STK11
15von hippel-lindau syndrome30.1PKD1, TSC2
16peutz-jeghers syndrome30.1TSC2, TSC1, STK11, MTOR
17kidney cancer30.1PIK3CA, TSC2, MTOR
18adenoma30.0TSC1, GSR, CDKN1B, STK11
19hepatocellular carcinoma30.0CDKN1B, PIK3CA, MTOR, RPS6KB1, RHOD, STK11
20leukemia30.0RAP1A, PIK3CA, MTOR, RPS6KB1, CDKN1B, EIF4EBP1
21pancreatic cancer30.0RHOD, PIK3CA, MTOR, STK11, RPS6KB1, CDKN1B
22prostate cancer29.9PIK3CA, MTOR, PKD1, CDKN1B, RPS6KB1, GSR
23cerebritis10.7
24polycystic kidney disease, infantile severe, with tuberous sclerosis10.6
25renal cell carcinoma10.6
26aneurysm10.6
27hepatitis10.6
28pancreatitis10.6
29neurofibromatosis10.5
30retinitis10.5
31hemimegalencephaly10.5
32tsc2 angiomyolipomas, renal, modifier of10.5
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
46renal oncocytoma10.3
47neuroendocrine tumor10.3
48pneumothorax10.3
49blindness10.3
50endotheliitis10.3

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:

 49 (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 Syndrome24

Anatomical Context for Tuberous Sclerosis

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MalaCards organs/tissues related to Tuberous Sclerosis:

33
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:

37 (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:

7 (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/GeneDecks:

(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 pathway38
9.4RPS6KB1, RPS6, PIK3CA
99.3PIK3CA, TSC2, MTOR, RHEB
10
Show member pathways
IFN-gamma pathway38
9.3RAP1A, MTOR, PIK3CA
11
Show member pathways
Signaling Pathways in Glioblastoma38
9.2CDKN1B, MTOR, TSC1, TSC2, PIK3CA
12
Show member pathways
IL2 signaling events mediated by STAT538
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 Pathway38
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 myogenesis60
9.1PIK3CA, TSC2, MTOR, RPS6KB1, RHEB
18
Show member pathways
9.0PIK3CA, MTOR, RPS6KA1, RHEB
198.8MTOR, RAP1A, EIF4EBP1
20
Show member pathways
MAPK Cascade38
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway38
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 Receptor60
8.7EIF4EBP1, RPS6KB1, MTOR, TSC2, PIK3CA
23
Show member pathways
Development Activation of ERK by Alpha 1 adrenergic receptors60
8.6TSC2, MTOR, RPS6KB1, RHEB, EIF4EBP1
248.6EIF4EBP1, RPS6, MTOR, PIK3CA
25
Show member pathways
ErbB receptor signaling network38
ErbB signaling pathway38
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 signaling60
Development Endothelin 1 EDNRA transactivation of EGFR60
8.5PIK3CA, TSC2, MTOR, RPS6KB1, RAP1A, RHEB
30
Show member pathways
8.3PIK3CA, TSC2, MTOR, RPS6KA1, RAP1A, CDKN1B
31
Show member pathways
Prolactin Signaling Pathway38
Development Prolactin receptor signaling60
Leptin signaling pathway38
8.3PIK3CA, MTOR, RPS6, RPS6KB1, EIF4EBP1
328.3TSC2, TSC1, MTOR, RPS6, RPS6KB1, EIF4EBP1
33
Show member pathways
Signal transduction PTEN pathway60
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 pathway38
7.9EIF4EBP1, RHEB, RPS6KB1, RPS6KA1, MTOR, TSC1
397.8PIK3CA, MTOR, RPS6KA1, RPS6, RPS6KB1, RAP1A
40
Show member pathways
IL-9 Signaling Pathway38
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway38
Immune response IL 9 signaling pathway60
7.8PIK3CA, MTOR, RPS6KA1, RPS6, RPS6KB1, RAP1A
41
Show member pathways
Prostate Cancer38
Integrated Cancer pathway38
Steroid Biosynthesis38
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 regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events38
ErbB2/ErbB3 signaling events38
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
6.8STK11, TSC1, TSC2, PIK3CA, MTOR, RPS6KA1
49
Show member pathways
Immune response IL 4 signaling pathway60
Signal transduction AKT signaling60
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/GeneDecks:

(show top 50)    (show all 80)
idCompoundScoreTop Affiliating Genes
1aicar45 26 1311.9MTOR, STK11, RPS6KB1
2brd 7389619.8RPS6KB1, RPS6KA1
3ptdins(3)p459.7PIK3CA, RPS6KB1, RHOD
4sl 0101-1619.7RPS6KB1, RPS6KA1
5bromodeoxyuridine459.6RPS6KB1, GFAP, CDKN1B, PIK3CA
6pf 4708671619.5RPS6KB1, RPS6KA1
7paraffin459.5GFAP, TSC1, STK11, TSC2, CDKN1B
8erlotinib45 51 1311.4MTOR, RPS6, CDKN1B, PIK3CA
9imatinib45 51 1311.3RPS6, CDKN1B, MTOR, PIK3CA
10guanosine45 26 1311.3TSC1, RAP1A, TSC2, RHOD
11resveratrol45 61 26 1312.2RPS6KB1, CDKN1B, PIK3CA, RPS6, MTOR
12testosterone45 61 26 1312.2CDKN1B, PKD1, TSC2, GFAP, PIK3CA, MTOR
13okadaic acid45 6110.0PIK3CA, EIF4EBP1, MTOR, TSC2, RPS6KB1
14alanine459.0CDKN1B, GSR, GFAP, TSC1, PKD1, STK11
15agar459.0CDKN1B, RAP1A, GFAP, PIK3CA
16everolimus45 51 1310.9TSC1, TSC2, PIK3CA, RPS6KB1, MTOR, EIF4EBP1
17estrogen458.9RPS6KB1, GFAP, PIK3CA, MTOR, TSC2, GSR
18dmso458.9PIK3CA, RPS6KB1, CDKN1B, EIF4EBP1
19superoxide45 269.8CCL26, RAP1A, PIK3CA, GSR, GFAP
20genistein45 30 61 3 26 1313.6CDKN1B, RPS6KB1, MTOR, RHOD, GFAP, GSR
21thymidine45 269.6RPS6, CDKN1B, RPS6KB1, GFAP, PIK3CA, RHOD
2212-o-tetradecanoylphorbol 13-acetate458.6RPS6KB1, MTOR, RAP1A, EIF4EBP1, CDKN1B
23arachidonic acid45 30 26 1311.6MTOR, PIK3CA, EIF4EBP1, RPS6KB1, RPS6
24dexamethasone45 51 30 1311.6PIK3CA, GFAP, MTOR, RPS6KB1, EIF4EBP1, CDKN1B
25glutamine458.4RPS6KB1, RAP1A, CDKN1B, GFAP, EIF4EBP1
26paclitaxel45 51 1310.4RPS6KB1, CDKN1B, EIF4EBP1, RHOD, GFAP, PIK3CA
27cisplatin45 51 61 1311.3GSR, CDKN1B, RPS6KB1, EIF4EBP1, MTOR, GFAP
28cyclic amp45 269.2CDKN1B, RHOD, RAP1A, RPS6KB1, RPS6KA1, STK11
29glutamate458.2GSR, PKD1, RHOD, RPS6KB1, RPS6KA1, CDKN1B
30gtp45 309.0RHOD, RHEB, RAP1A, RPS6, MTOR, TSC2
31adenylate458.0EIF4EBP1, PIK3CA, GFAP, STK11, GSR, RAP1A
32leucine458.0PIK3CA, GFAP, TSC2, MTOR, RPS6, RPS6KB1
33wortmannin457.7CDKN1B, PIK3CA, TSC2, MTOR, RPS6, RPS6KB1
34retinoic acid45 268.7PIK3CA, GFAP, RPS6KB1, MTOR, CDKN1B, EIF4EBP1
35arginine457.7CDKN1B, RHOD, RAP1A, GFAP, TSC2, MTOR
36pd 98,059457.5PIK3CA, TSC1, MTOR, GFAP, RPS6KA1, RPS6KB1
37calcium45 51 26 1310.3MTOR, RHOD, RAP1A, RPS6KB1, PIK3CA, GFAP
38glucose457.1MTOR, GFAP, RPS6KB1, RHEB, EIF4EBP1, CDKN1B
39glycogen45 268.1GFAP, TSC2, TSC1, STK11, MTOR, RPS6KA1
40lipid457.0RAP1A, EIF4EBP1, RHOD, PIK3CA, GFAP, TSC2
41oxygen45 267.8STK11, GFAP, TSC2, CDKN1B, EIF4EBP1, RAP1A
42atp45 307.8CDKN1B, EIF4EBP1, CCL26, MTOR, PKD1, RPS6KA1
43ly294002456.7RHOD, EIF4EBP1, CDKN1B, RAP1A, RPS6KA1, PIK3CA
44phosphoinositide456.6CDKN1B, EIF4EBP1, RHOD, TSC1, RAP1A, RPS6KB1
45vegf456.4EIF4EBP1, TSC1, CDKN1B, RHOD, RAP1A, RPS6KB1
46phosphatidylinositol456.2RHOD, EIF4EBP1, CDKN1B, RAP1A, RPS6KB1, RPS6
47rapamycin455.9RPS6KB1, RPS6, RPS6KA1, PKD1, MTOR, CDKN1B
48tyrosine455.9MTOR, CDKN1B, PIK3CA, GFAP, TSC2, TSC1
49threonine455.7PIK3CA, GFAP, CDKN1B, EIF4EBP1, RHOD, RAP1A
50serine455.3RAP1A, PIK3CA, GFAP, TSC2, TSC1, STK11

GO Terms for genes affiliated with Tuberous Sclerosis

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Cellular components related to Tuberous Sclerosis according to GeneCards/GeneDecks:

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/GeneDecks:

(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/GeneDecks:

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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Sources for Tuberous Sclerosis

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet