MCID: TBR001
MIFTS: 85

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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44NIH Rare Diseases, 35MedlinePlus, 45NINDS, 66Wikipedia, 48OMIM, 34MalaCards
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MedlinePlus:35 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: Tuberous Sclerosis, also known as tuberous sclerosis, type 1, is related to tuberous sclerosis complex and lymphangioleiomyomatosis, and has symptoms including corpus callosum/septum pellucidum total/partial agenesis, intracranial/cerebral calcifications and cranial hypertension. An important gene associated with Tuberous Sclerosis is TSC1 (tuberous sclerosis 1), 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:44 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:45 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:66 Tuberous sclerosis or tuberous sclerosis complex (TSC) is a rare multi-system genetic disease that... more...

Description from OMIM:48 613254,191100

Aliases & Classifications for Tuberous Sclerosis

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Sources:
9Disease Ontology, 66Wikipedia, 44NIH Rare Diseases, 45NINDS, 11DISEASES, 46Novoseek, 50Orphanet, 35MedlinePlus, 63UMLS, 23GTR, 21GeneTests, 48OMIM, 59SNOMED-CT, 41NCIt, 28ICD9CM, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 26ICD10
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
tuberous sclerosis:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Childhood


Aliases & Descriptions:

tuberous sclerosis 9 66 44 45 11 46 50 35 63
tuberous sclerosis, type 1 44 21 23
tuberous sclerosis syndrome 9 23
tuberous sclerosis complex 44 50
tuberous sclerosis 1 44 63
bourneville syndrome 44 50
tuberose sclerosis 9 66
cerebral sclerosis 9 66
epiloia 9 66
bourneville phakomatosis 66
bourneville's syndrome 44
bourneville's disease 9
tuberous sclerosis-1 48
bourneville disease 66
sclerosis tuberosa 66


External Ids:

Disease Ontology9 DOID:13515
NCIt41 C3424
ICD9CM28 759.5
MeSH36 D014402
MESH via Orphanet37 D014402
ICD10 via Orphanet27 Q85.1
SNOMED-CT via Orphanet60 7199000
UMLS via Orphanet64 C0041341
ICD1026 Q85.1

Related Diseases for Tuberous Sclerosis

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Sources:
18GeneCards, 19GeneDecks
See all sources

Diseases in the Tuberous Sclerosis family:

Tuberous Sclerosis, Type 2

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

(show top 50)    (show all 236)
idRelated DiseaseScoreTop Affiliating Genes
1tuberous sclerosis complex32.4TSC1, TSC2
2lymphangioleiomyomatosis31.6TSC1, TSC2
3subependymal giant cell astrocytoma31.5TSC2, TSC1, MTOR
4angiomyolipoma31.5RHEB, MTOR, CCL26, TSC1, TSC2, RPS6
5astrocytoma31.2TSC2, RHOD, GFAP, PIK3CA, RAP1A, CDKN1B
6polycystic kidney disease30.9PKD1, TSC2, MTOR
7mental retardation30.6TSC2, RHOD, TSC1, MTOR, CCL26
8kidney angiomyolipoma30.6MTOR, TSC1, TSC2
9ganglioglioma30.4GFAP, TSC1, TSC2
10von hippel-lindau disease30.4PKD1, TSC2
11perivascular epithelioid cell tumor30.2RHEB, TSC2
12adenocarcinoma30.2CDKN1B, EIF4EBP1, RHOD, RPS6KB1, TSC1, TSC2
13peutz-jeghers syndrome30.1TSC2, TSC1, STK11, MTOR
14melanoma30.0CDKN1B, EIF4EBP1, RAP1A, RPS6KA1, MTOR, STK11
15leukemia29.9RAP1A, PIK3CA, MTOR, RPS6KB1, CDKN1B, EIF4EBP1
16kidney cancer29.8CCL26, MTOR, TSC1, TSC2, PIK3CA, RHOD
17pancreatic cancer29.8RHOD, PIK3CA, MTOR, STK11, RPS6KB1, CDKN1B
18prostate cancer29.6PIK3CA, MTOR, PKD1, CDKN1B, RPS6KB1, GSR
19cerebritis10.6
20renal cell carcinoma10.6
21aneurysm10.6
22hepatitis10.6
23kidney disease10.6
24pancreatitis10.6
25neurofibromatosis10.5
26retinitis10.5
27polycystic kidneys, severe infantile with tuberous sclerosis10.5
28chordoma10.5
29giant cell tumor10.5
30hemimegalencephaly10.5
31intracranial aneurysm10.4
32neuronitis10.4
33hepatic angiomyolipoma10.4
34tuberous sclerosis, type 210.4
35fibroma10.4
36sturge-weber syndrome10.4
37weber syndrome10.4
38west syndrome10.4
39autism spectrum disorder10.4
40lymphedema10.4
41gigantism10.4
42autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis10.4
43wolff-parkinson-white syndrome10.3
44neuroendocrine tumor10.3
45pneumothorax10.3
46sleep disorder10.3
47megalencephaly10.3
48tsc2 angiomyolipomas, renal, modifier of10.3
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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

191100

Clinical features from OMIM:

613254,191100

Symptoms:

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

Drugs & Therapeutics for Tuberous Sclerosis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Tuberous Sclerosis

Drug clinical trials:

Search ClinicalTrials for Tuberous Sclerosis

Search NIH Clinical Center for Tuberous Sclerosis

Search CenterWatch for Tuberous Sclerosis

Genetic Tests for Tuberous Sclerosis

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21GeneTests, 23GTR
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Genetic tests related to Tuberous Sclerosis:

id Genetic test Affiliating Genes
1 Tuberous Sclerosis 121 23 TSC1
2 Tuberous Sclerosis Syndrome23

Anatomical Context for Tuberous Sclerosis

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34MalaCards
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MalaCards organs/tissues related to Tuberous Sclerosis:

34
Skin, Kidney, Brain, Heart, Lung, Eye, Bone, Liver, Pancreas, Cortex, Endothelial, Smooth muscle, Testes, T cells, Fetal brain, Uterus, Small intestine, Cerebellum, Lymph node, Colon, Pancreatic islet, Temporal lobe, Testis, Prostate, Adipocyte, Ovary, Breast, Thyroid, Spinal cord, Caudate nucleus

Animal Models for Tuberous Sclerosis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Tuberous Sclerosis:

38 (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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Sources:
53PubMed
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Articles related to Tuberous Sclerosis:

(show top 50)    (show all 1172)
idTitleAuthorsYear
1
Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation. (22805177)
2013
2
Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex. (24271014)
2013
3
Giant pilomatricoma in a patient with tuberous sclerosis, both diagnosed in the adult life. (23988820)
2013
4
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
5
Polycystic kidney disease and chronic renal failure in tuberous sclerosis. (24092520)
2013
6
Vigabatrin and mental retardation in tuberous sclerosis: infantile spasms versus focal seizures. (22752486)
2013
7
T2 weighted MRI for assessing renal lesions in transgenic mouse models of tuberous sclerosis. (21802234)
2012
8
Enhanced GABAergic network and receptor function in pediatric cortical dysplasia Type IIB compared with Tuberous Sclerosis Complex. (21889982)
2012
9
Cardiac rhabdomyomas in tuberous sclerosis patients: a case report and review of the literature. (22958887)
2012
10
Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population. (21266383)
2011
11
Facial unilateral angiofibromas: a postzygotic tuberous sclerosis like mutation. (22016299)
2011
12
Effects of rapamycin on angiomyolipomas in patients with tuberous sclerosis. (21629335)
2011
13
Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review. (21692602)
2011
14
Neuropsychological attention skills and related behaviours in adults with tuberous sclerosis complex. (21191642)
2011
15
The morphologic spectrum of uterine PEC-cell associated tumors in a patient with tuberous sclerosis. (21293289)
2011
16
Genetic analysis of tuberous-sclerosis genes 1 and 2 in nonlesional focal epilepsy. (21555252)
2011
17
The management of subependymal giant cell tumors in tuberous sclerosis: a clinician's perspective. (21305305)
2011
18
Tuberous sclerosis complex renal disease. (21071977)
2011
19
Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex. (21507691)
2011
20
Intractable epilepsy in tuberous sclerosis: is the tuber removal not enough? (21175458)
2010
21
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
22
The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway. (18845692)
2009
23
Prenatal diagnosis of cardiac rhabdomyomas: incidence of associated cerebral lesions of tuberous sclerosis complex. (19606448)
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
Phosphorylation of tuberin as a novel mechanism for somatic inactivation of the tuberous sclerosis complex proteins in brain lesions. (14871804)
2004
34
Conservative management of pulmonary lymphangioleiomyomatosis and tuberous sclerosis complicated by renal angiomyolipomas in pregnancy. (15209123)
2004
35
Tuberous sclerosis with hypothyroidism and precocious puberty. (15080418)
2004
36
Tuberous sclerosis: immunohistochemistry expression of tuberin and hamartin in a 31-week gestational fetus. (16095035)
2004
37
14-3-3beta binds to and negatively regulates the tuberous sclerosis complex 2 (TSC2) tumor suppressor gene product, tuberin. (12468542)
2003
38
Rheb binds tuberous sclerosis complex 2 (TSC2) and promotes S6 kinase activation in a rapamycin- and farnesylation-dependent manner. (12842888)
2003
39
Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex. (12015165)
2002
40
Phosphatidylinositol 3-kinase/Akt pathway regulates tuberous sclerosis tumor suppressor complex by phosphorylation of tuberin. (12167664)
2002
41
Ophthalmic manifestations of tuberous sclerosis: a population based study. (11264130)
2001
42
The tuberous sclerosis 2 gene product can localize to nuclei in a phosphorylation-dependent manner. (11703097)
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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Tuberous Sclerosis:

65
id Symbol AA change Variation ID SNP ID
1TSC1p.Leu191HisVAR_009399
2TSC1p.Met224ArgVAR_009401
3TSC1p.Gln654GluVAR_009407rs75820036
4TSC1p.Ala726GluVAR_009408
5TSC1p.Thr899SerVAR_009412
6TSC1p.Leu72ProVAR_054387
7TSC1p.Arg500GlnVAR_054391
8TSC1p.Leu117ProVAR_070637
9TSC1p.Leu180ProVAR_070643

Clinvar genetic disease variations for Tuberous Sclerosis:

1 (show all 26)
id Gene Name Type Significance SNP ID Assembly Location
1TSC2NM_000548.3(TSC2): c.4642delC (p.Leu1548Cysfs)deletionPathogenicrs137854083GRCh37Chr 16, 2135303: 2135303
2TSC2NM_000548.3(TSC2): c.5024C> T (p.Pro1675Leu)single nucleotide variantPathogenicrs45483392GRCh37Chr 16, 2137898: 2137898
3TSC2NM_000548.3(TSC2): c.34A> T (p.Lys12Ter)single nucleotide variantPathogenicrs45512692GRCh37Chr 16, 2098650: 2098650
4TSC2NM_000548.3(TSC2): c.2056_2059dupTACT (p.Ser687Leufs)duplicationPathogenicrs137854337GRCh37Chr 16, 2121894: 2121897
5TSC2NM_000548.3(TSC2): c.1513C> T (p.Arg505Ter)single nucleotide variantPathogenicrs45517179GRCh37Chr 16, 2114342: 2114342
6TSC2NM_000548.3(TSC2): c.1832G> A (p.Arg611Gln)single nucleotide variantPathogenic, otherrs28934872GRCh37Chr 16, 2120572: 2120572
7TSC2NM_000548.3(TSC2): c.2150T> G (p.Leu717Arg)single nucleotide variantPathogenicrs45517214GRCh37Chr 16, 2122294: 2122294
8TSC2NM_000548.3(TSC2): c.1432C> T (p.Gln478Ter)single nucleotide variantPathogenicrs121964862GRCh37Chr 16, 2113043: 2113043
9TSC2NM_000548.3(TSC2): c.1096G> T (p.Glu366Ter)single nucleotide variantPathogenicrs45517148GRCh37Chr 16, 2110791: 2110791
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 variantBenign, Pathogenicrs118203576GRCh37Chr 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.2194C> T (p.His732Tyr)single nucleotide variantBenign, Likely benign, Pathogenicrs118203657GRCh37Chr 9, 135779052: 135779052
25TSC1NM_000368.4(TSC1): c.671T> G (p.Met224Arg)single nucleotide variantPathogenicrs118203426GRCh37Chr 9, 135796816: 135796816
26TSC1NM_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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Tuberous Sclerosis

Search GEO for disease gene expression data for Tuberous Sclerosis.

Pathways for genes affiliated with Tuberous Sclerosis

About this section
Sources:
51PathCards, 5Cell Signaling Technology, 39NCBI BioSystems Database, 54QIAGEN, 56Reactome, 31KEGG, 61Thomson Reuters, 62Tocris Bioscience, 52PharmGKB, 55R&D Systems, 13EMD Millipore
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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 pathway39
9.4RPS6KB1, RPS6, PIK3CA
99.3PIK3CA, TSC2, MTOR, RHEB
10
Show member pathways
IFN-gamma pathway39
9.3RAP1A, MTOR, PIK3CA
11
Show member pathways
Signaling Pathways in Glioblastoma39
9.2CDKN1B, MTOR, TSC1, TSC2, PIK3CA
12
Show member pathways
IL2 signaling events mediated by STAT539
9.2RPS6KB1, RPS6, MTOR, PIK3CA
139.2PIK3CA, MTOR, RPS6, RPS6KB1
14
Show member pathways
9.1CDKN1B, MTOR, TSC2, GFAP, PIK3CA
15
Show member pathways
Insulin Pathway39
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 myogenesis61
9.1PIK3CA, TSC2, MTOR, RPS6KB1, RHEB
18
Show member pathways
9.0PIK3CA, MTOR, RPS6KA1, RHEB
198.8MTOR, RAP1A, EIF4EBP1
20
Show member pathways
MAPK Cascade39
Immune response Oncostatin M signaling via MAPK in human cells61
Oncostatin M Signaling Pathway39
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 Receptor61
8.7EIF4EBP1, RPS6KB1, MTOR, TSC2, PIK3CA
23
Show member pathways
Development Activation of ERK by Alpha 1 adrenergic receptors61
8.6TSC2, MTOR, RPS6KB1, RHEB, EIF4EBP1
248.6EIF4EBP1, RPS6, MTOR, PIK3CA
25
Show member pathways
ErbB receptor signaling network39
ErbB signaling pathway39
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 signaling61
Development Endothelin 1 EDNRA transactivation of EGFR61
8.4PIK3CA, TSC2, MTOR, RPS6KB1, RAP1A, RHEB
30
Show member pathways
Prolactin Signaling Pathway39
Development Prolactin receptor signaling61
Leptin signaling pathway39
8.3PIK3CA, MTOR, RPS6, RPS6KB1, EIF4EBP1
31
Show member pathways
8.3PIK3CA, TSC2, MTOR, RPS6KA1, RAP1A, CDKN1B
328.3TSC2, TSC1, MTOR, RPS6, RPS6KB1, EIF4EBP1
33
Show member pathways
Signal transduction PTEN pathway61
8.2PIK3CA, TSC2, MTOR, RPS6KB1, RHEB, EIF4EBP1
348.2PIK3CA, TSC2, TSC1, STK11, MTOR, RPS6KB1
358.1TSC2, TSC1, MTOR, RPS6KB1, RHEB, EIF4EBP1
368.0TSC2, MTOR, RPS6, RPS6KB1, RHEB, EIF4EBP1
378.0PIK3CA, MTOR, RPS6, RPS6KB1, EIF4EBP1, CDKN1B
38
Show member pathways
mTOR signaling pathway39
7.9EIF4EBP1, RHEB, RPS6KB1, RPS6KA1, MTOR, TSC1
397.8PIK3CA, MTOR, RPS6KA1, RPS6, RPS6KB1, RAP1A
40
Show member pathways
IL-9 Signaling Pathway39
Development Thrombopoietin regulated cell processes61
IL-7 Signaling Pathway39
Immune response IL 9 signaling pathway61
7.8PIK3CA, MTOR, RPS6KA1, RPS6, RPS6KB1, RAP1A
41
Show member pathways
Prostate Cancer39
Integrated Cancer pathway39
Steroid Biosynthesis39
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 regulation61
Development CNTF receptor signaling61
Class IB PI3K non-lipid kinase events39
ErbB2/ErbB3 signaling events39
Development Growth hormone signaling via PI3K AKT and MAPK cascades61
Translation Regulation activity of EIF261
Regulation of lipid metabolism Insulin signaling generic cascades61
Transcription PPAR Pathway61
Cell adhesion PLAU signaling61
Translation Regulation activity of EIF4F61
6.8STK11, TSC1, TSC2, PIK3CA, MTOR, RPS6KA1
49
Show member pathways
Immune response IL 4 signaling pathway61
Signal transduction AKT signaling61
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

About this section
Sources:
46Novoseek, 25HMDB, 12DrugBank, 62Tocris Bioscience, 52PharmGKB, 30IUPHAR, 3BitterDB
See all sources

Compounds related to Tuberous Sclerosis according to GeneCards/GeneDecks:

(show top 50)    (show all 80)
idCompoundScoreTop Affiliating Genes
1aicar46 25 1211.9MTOR, STK11, RPS6KB1
2brd 7389629.8RPS6KB1, RPS6KA1
3ptdins(3)p469.7PIK3CA, RPS6KB1, RHOD
4sl 0101-1629.7RPS6KB1, RPS6KA1
5bromodeoxyuridine469.6RPS6KB1, GFAP, CDKN1B, PIK3CA
6pf 4708671629.5RPS6KB1, RPS6KA1
7paraffin469.5GFAP, TSC1, STK11, TSC2, CDKN1B
8erlotinib46 52 1211.4MTOR, RPS6, CDKN1B, PIK3CA
9imatinib46 52 1211.3RPS6, CDKN1B, MTOR, PIK3CA
10guanosine46 25 1211.3TSC1, RAP1A, TSC2, RHOD
11resveratrol46 62 25 1212.2RPS6KB1, CDKN1B, PIK3CA, RPS6, MTOR
12testosterone46 62 25 1212.2CDKN1B, PKD1, TSC2, GFAP, PIK3CA, MTOR
13okadaic acid46 6210.0PIK3CA, EIF4EBP1, MTOR, TSC2, RPS6KB1
14alanine469.0CDKN1B, GSR, GFAP, TSC1, PKD1, STK11
15agar469.0CDKN1B, RAP1A, GFAP, PIK3CA
16everolimus46 52 1210.9TSC1, TSC2, PIK3CA, RPS6KB1, MTOR, EIF4EBP1
17estrogen468.9RPS6KB1, GFAP, PIK3CA, MTOR, TSC2, GSR
18dmso468.9PIK3CA, RPS6KB1, CDKN1B, EIF4EBP1
19superoxide46 259.8CCL26, RAP1A, PIK3CA, GSR, GFAP
20genistein46 30 62 3 25 1213.6CDKN1B, RPS6KB1, MTOR, RHOD, GFAP, GSR
21thymidine46 259.6RPS6, CDKN1B, RPS6KB1, GFAP, PIK3CA, RHOD
2212-o-tetradecanoylphorbol 13-acetate468.6RPS6KB1, MTOR, RAP1A, EIF4EBP1, CDKN1B
23arachidonic acid46 30 25 1211.6MTOR, PIK3CA, EIF4EBP1, RPS6KB1, RPS6
24dexamethasone46 52 30 1211.6PIK3CA, GFAP, MTOR, RPS6KB1, EIF4EBP1, CDKN1B
25glutamine468.4RPS6KB1, RAP1A, CDKN1B, GFAP, EIF4EBP1
26paclitaxel46 52 1210.4RPS6KB1, CDKN1B, EIF4EBP1, RHOD, GFAP, PIK3CA
27cisplatin46 52 62 1211.3GSR, CDKN1B, RPS6KB1, EIF4EBP1, MTOR, GFAP
28cyclic amp46 259.2CDKN1B, RHOD, RAP1A, RPS6KB1, RPS6KA1, STK11
29glutamate468.2GSR, PKD1, RHOD, RPS6KB1, RPS6KA1, CDKN1B
30gtp46 309.0RHOD, RHEB, RAP1A, RPS6, MTOR, TSC2
31adenylate468.0EIF4EBP1, PIK3CA, GFAP, STK11, GSR, RAP1A
32leucine468.0PIK3CA, GFAP, TSC2, MTOR, RPS6, RPS6KB1
33wortmannin467.7CDKN1B, PIK3CA, TSC2, MTOR, RPS6, RPS6KB1
34retinoic acid46 258.7PIK3CA, GFAP, RPS6KB1, MTOR, CDKN1B, EIF4EBP1
35arginine467.7CDKN1B, RHOD, RAP1A, GFAP, TSC2, MTOR
36pd 98,059467.5PIK3CA, TSC1, MTOR, GFAP, RPS6KA1, RPS6KB1
37calcium46 52 25 1210.3MTOR, RHOD, RAP1A, RPS6KB1, PIK3CA, GFAP
38glucose467.1MTOR, GFAP, RPS6KB1, RHEB, EIF4EBP1, CDKN1B
39glycogen46 258.1GFAP, TSC2, TSC1, STK11, MTOR, RPS6KA1
40lipid467.0RAP1A, EIF4EBP1, RHOD, PIK3CA, GFAP, TSC2
41oxygen46 257.8STK11, GFAP, TSC2, CDKN1B, EIF4EBP1, RAP1A
42atp46 307.8CDKN1B, EIF4EBP1, CCL26, MTOR, PKD1, RPS6KA1
43ly294002466.7RHOD, EIF4EBP1, CDKN1B, RAP1A, RPS6KA1, PIK3CA
44phosphoinositide466.6CDKN1B, EIF4EBP1, RHOD, TSC1, RAP1A, RPS6KB1
45vegf466.4EIF4EBP1, TSC1, CDKN1B, RHOD, RAP1A, RPS6KB1
46phosphatidylinositol466.2RHOD, EIF4EBP1, CDKN1B, RAP1A, RPS6KB1, RPS6
47rapamycin465.9RPS6KB1, RPS6, RPS6KA1, PKD1, MTOR, CDKN1B
48tyrosine465.9MTOR, CDKN1B, PIK3CA, GFAP, TSC2, TSC1
49threonine465.7PIK3CA, GFAP, CDKN1B, EIF4EBP1, RHOD, RAP1A
50serine465.3RAP1A, PIK3CA, GFAP, TSC2, TSC1, STK11

GO Terms for genes affiliated with Tuberous Sclerosis

About this section
Sources:
17Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol 3-kinase complexGO:0059429.9MTOR, PIK3CA
2TSC1-TSC2 complexGO:0335969.8TSC1, TSC2
3membraneGO:0160208.8GFAP, TSC2, TSC1, STK11, MTOR, RHEB
4cytoplasmGO:0057376.1GFAP, TSC2, TSC1, STK11, MTOR, PKD1
5cytosolGO:0058294.8CDKN1B, PIK3CA, GFAP, TSC2, TSC1, STK11

Biological processes related to Tuberous Sclerosis according to GeneCards/GeneDecks:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1activation of Rho GTPase activityGO:03286210.2TSC1, TBC1D7
2negative regulation of TOR signalingGO:03200710.2TSC2, TSC1, TBC1D7
3negative regulation of cell sizeGO:04579210.2MTOR, TSC1, TSC2
4response to glucagonGO:03376210.1RPS6KB1, STK11
5negative regulation of epithelial cell proliferation involved in prostate gland developmentGO:06077010.1CDKN1B, STK11
6protein heterooligomerizationGO:05129110.1TSC2, TSC1, STK11
7regulation of protein kinase activityGO:04585910.0MTOR, TSC1
8protein kinase B signalingGO:04349110.0RPS6KB1, TSC2, PIK3CA
9vasculature developmentGO:0019449.8STK11, PIK3CA
10fibroblast growth factor receptor signaling pathwayGO:0085439.7PIK3CA, TSC2, MTOR, CDKN1B
11Fc-epsilon receptor signaling pathwayGO:0380959.7PIK3CA, TSC2, MTOR, CDKN1B
12epidermal growth factor receptor signaling pathwayGO:0071739.7CDKN1B, MTOR, TSC2, PIK3CA
13response to amino acidGO:0432009.6CDKN1B, MTOR
14negative regulation of cell proliferationGO:0082859.6CDKN1B, STK11, TSC1, TSC2
15phosphatidylinositol-mediated signalingGO:0480159.5PIK3CA, TSC2, MTOR, RPS6KB1, CDKN1B
16positive regulation of mitotic cell cycleGO:0459319.4EIF4EBP1, RPS6KB1
17G1/S transition of mitotic cell cycleGO:0000829.2RPS6KB1, EIF4EBP1, CDKN1B
18cell cycle arrestGO:0070509.2TSC2, TSC1, STK11, PKD1, RHEB, CDKN1B
19innate immune responseGO:0450879.2PIK3CA, TSC2, MTOR, RPS6KA1, CDKN1B
20TOR signalingGO:0319299.0MTOR, RPS6, RPS6KB1, EIF4EBP1
21neurotrophin TRK receptor signaling pathwayGO:0480118.7PIK3CA, TSC2, MTOR, RPS6KA1, RAP1A, CDKN1B
22signal transductionGO:0071658.5CCL26, MTOR, RPS6KA1, RPS6KB1, RAP1A, RHEB
23insulin receptor signaling pathwayGO:0082867.6EIF4EBP1, PIK3CA, TSC2, TSC1, STK11, MTOR

Molecular functions related to Tuberous Sclerosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein kinase activator activityGO:0302959.6STK11, PIK3CA
2protein complex bindingGO:0324039.3CDKN1B, RAP1A, STK11
3protein serine/threonine kinase activityGO:0046749.1PIK3CA, STK11, MTOR, RPS6KA1
4protein bindingGO:0055155.4CDKN1B, PIK3CA, TSC2, TSC1, STK11, MTOR

Products for genes affiliated with Tuberous Sclerosis

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tuberous Sclerosis

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet