MCID: TBR001
MIFTS: 86

Tuberous Sclerosis malady

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

Summaries for Tuberous Sclerosis

About this section


Fully expand this MalaCard
MedlinePlus:33 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 tuberous sclerosis complex and lymphangioleiomyomatosis, and has symptoms including prominent occiput/occipital bossing, follicular/erythematous/edematous papules/milium and cutaneous neurofibromas/facial angiofibromas/koenen tumors. 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 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:42 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:43 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...

Descriptions from OMIM:46 613254,191100

Aliases & Classifications for Tuberous Sclerosis

About this section
Sources:
8Disease Ontology, 65Wikipedia, 42NIH Rare Diseases, 43NINDS, 10DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 62UMLS, 22GTR, 20GeneTests, 46OMIM, 27ICD9CM, 57SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Tuberous Sclerosis, Aliases & Descriptions:

Name: Tuberous Sclerosis 8 65 42 43 10 44 48 33 62
Tuberous Sclerosis Syndrome 8 22 62
Tuberous Sclerosis, Type 1 42 20 22
Tuberous Sclerosis Complex 42 48 62
Bourneville's Syndrome 42 62
Tuberous Sclerosis 1 42 62
Bourneville Syndrome 42 48
Bourneville Disease 65 62
 
Tuberose Sclerosis 8 65
Cerebral Sclerosis 8 65
Epiloia 8 65
Phacomatosis, Bourneville 62
Bourneville Phakomatosis 65
Bourneville's Disease 8
Tuberous Sclerosis-1 46
Sclerosis Tuberosa 65


Classifications:



Characteristics (Orphanet epidemiological data):

48
tuberous sclerosis:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Childhood


External Ids:

Disease Ontology8 DOID:13515
ICD9CM27 759.5
NCIt39 C3424
MeSH34 D014402
MESH via Orphanet35 D014402
ICD10 via Orphanet26 Q85.1
UMLS via Orphanet63 C0041341
ICD1025 Q85.1

Related Diseases for Tuberous Sclerosis

About this section

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 247)
idRelated DiseaseScoreTop Affiliating Genes
1tuberous sclerosis complex33.0TSC1, TSC2
2lymphangioleiomyomatosis32.1TSC1, TSC2
3subependymal giant cell astrocytoma32.0TSC2, TSC1, MTOR
4angiomyolipoma31.5RHEB, MTOR, CCL26, TSC1, TSC2, RPS6
5polycystic kidney disease31.4PKD1, TSC2, MTOR
6perivascular epithelioid cell tumor31.0RHEB, TSC2
7kidney angiomyolipoma31.0MTOR, TSC1, TSC2
8ganglioglioma30.7GFAP, TSC1, TSC2
9mental retardation30.7TSC2, RHOD, TSC1, MTOR, CCL26
10von hippel-lindau disease30.6PKD1, TSC2
11peutz-jeghers syndrome30.4TSC2, TSC1, STK11, MTOR
12astrocytoma30.3TSC2, RHOD, GFAP, PIK3CA, RAP1A, CDKN1B
13adenocarcinoma29.3CDKN1B, EIF4EBP1, RHOD, RPS6KB1, TSC1, TSC2
14leukemia29.2RAP1A, PIK3CA, MTOR, RPS6KB1, CDKN1B, EIF4EBP1
15kidney cancer29.1CCL26, MTOR, TSC1, TSC2, PIK3CA, RHOD
16pancreatic cancer29.1RHOD, PIK3CA, MTOR, STK11, RPS6KB1, CDKN1B
17melanoma28.9CDKN1B, EIF4EBP1, RAP1A, RPS6KA1, MTOR, STK11
18prostate cancer28.3PIK3CA, MTOR, PKD1, CDKN1B, RPS6KB1, GSR
19cerebritis10.7
20renal cell carcinoma10.6
21kidney disease10.6
22aneurysm10.6
23hepatitis10.6
24neurofibromatosis10.5
25pancreatitis10.5
26retinitis10.5
27polycystic kidneys, severe infantile with tuberous sclerosis10.5
28chordoma10.5
29giant cell tumor10.5
30hemimegalencephaly10.5
31fibroma10.5
32intracranial aneurysm10.5
33hepatic angiomyolipoma10.5
34sturge-weber syndrome10.5
35tuberous sclerosis, type 210.5
36weber syndrome10.5
37primary hyperoxaluria10.4MTOR
38neuronitis10.4
39autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis10.4
40infantile epileptic encephalopathy10.4TSC1, TSC2
41alexander disease10.4GFAP
42west syndrome10.4
43lymphedema10.4
44wolff-parkinson-white syndrome10.4
45autism spectrum disorder10.4
46sleep disorder10.4
47gigantism10.4
48cystic kidney10.3TSC2, PKD1
49polycystic kidney disease, autosomal recessive10.3PKD1, TSC2
50neuroendocrine tumor10.3

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



Diseases related to tuberous sclerosis

Symptoms for Tuberous Sclerosis

About this section

Symptoms by clinical synopsis from OMIM:

191100

Clinical features from OMIM:

613254,191100

Symptoms:

48 (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 72)
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 intellectual disability 30% HP:0001249
15 renal insufficiency occasional (7.5%) HP:0000083
16 polycystic kidney dysplasia occasional (7.5%) HP:0000113
17 gingivitis occasional (7.5%) HP:0000230
18 iris coloboma occasional (7.5%) HP:0000612
19 abnormality of dental enamel occasional (7.5%) HP:0000682
20 hypothyroidism occasional (7.5%) HP:0000821
21 precocious puberty occasional (7.5%) HP:0000826
22 abnormality of the liver occasional (7.5%) HP:0001392
23 congestive heart failure occasional (7.5%) HP:0001635
24 abnormality of the pancreas occasional (7.5%) HP:0001732
25 respiratory insufficiency occasional (7.5%) HP:0002093
26 emphysema occasional (7.5%) HP:0002097
27 abnormality of the pleura occasional (7.5%) HP:0002103
28 cerebral calcification occasional (7.5%) HP:0002514
29 increased intracranial pressure occasional (7.5%) HP:0002516
30 aneurysm occasional (7.5%) HP:0002617
31 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
32 renal neoplasm occasional (7.5%) HP:0009726
33 arrhythmia occasional (7.5%) HP:0011675
34 neoplasm of the heart occasional (7.5%) HP:0100544
35 macrodactyly of finger occasional (7.5%) HP:0100746
36 visceral angiomatosis occasional (7.5%) HP:0100761
37 lymphangioma occasional (7.5%) HP:0100764
38 autosomal dominant inheritance HP:0000006
39 renal cyst HP:0000107
40 gingival fibromatosis HP:0000169
41 autism HP:0000717
42 hypothyroidism HP:0000821
43 precocious puberty HP:0000826
44 cafe-au-lait spot HP:0000957
45 specific learning disability HP:0001328
46 subcutaneous nodule HP:0001482
47 wolff-parkinson-white syndrome HP:0001716
48 abnormality of the respiratory system HP:0002086
49 cerebral calcification HP:0002514
50 ependymoma HP:0002888
51 phenotypic variability HP:0003812
52 renal cell carcinoma HP:0005584
53 renal angiomyolipoma HP:0006772
54 attention deficit hyperactivity disorder HP:0007018
55 projection of scalp hair onto lateral cheek HP:0009554
56 astrocytoma HP:0009592
57 subependymal nodules HP:0009716
58 cortical tubers HP:0009717
59 cortical tubers HP:0009717
60 hypomelanotic macules HP:0009719
61 adenoma sebaceum HP:0009720
62 adenoma sebaceum HP:0009720
63 shagreen patch HP:0009721
64 dental enamel pits HP:0009722
65 subungual fibromas HP:0009724
66 achromatic retinal patches HP:0009727
67 cardiac rhabdomyoma HP:0009729
68 cardiac rhabdomyoma HP:0009729
69 optic glioma HP:0009734
70 chordoma HP:0010762
71 infantile spasms HP:0012469
72 premature chromatid separation HP:0200024

Drugs & Therapeutics for Tuberous Sclerosis

About this section

Drug clinical trials:

Search ClinicalTrials for Tuberous Sclerosis

Search NIH Clinical Center for Tuberous Sclerosis

Genetic Tests for Tuberous Sclerosis

About this section

Genetic tests related to Tuberous Sclerosis:

id Genetic test Affiliating Genes
1 Tuberous Sclerosis 120 22 TSC1
2 Tuberous Sclerosis Syndrome22

Anatomical Context for Tuberous Sclerosis

About this section

MalaCards organs/tissues related to Tuberous Sclerosis:

32
Skin, Kidney, Brain, Heart, Lung, Eye, Bone, Liver, Pancreas, Cortex, Endothelial, Adipocyte, Uterus, Testes, T cells, Fetal brain, Lymph node, Cerebellum, Small intestine, Colon, Thyroid, Breast, Ovary, Prostate, Testis, Cervix, Temporal lobe, Pancreatic islet, Spinal cord, Smooth muscle, Caudate nucleus

Animal Models for Tuberous Sclerosis or affiliated genes

About this section

MGI Mouse Phenotypes related to Tuberous Sclerosis:

36 (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

About this section

Articles related to Tuberous Sclerosis:

(show top 50)    (show all 1207)
idTitleAuthorsYear
1
Multiple ungual fibromas as an only cutaneous manifestation of tuberous sclerosis complex. (25201855)
2014
2
Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. (25364257)
2014
3
Recovery of chylous pulmonary congestion in tuberous sclerosis complex-associated lymphangioleiomyomatosis. (25326562)
2014
4
Fetal and Postnatal Magnetic Resonance Imaging of Unilateral Cystic Renal Dysplasia in a Neonate with Tuberous Sclerosis. (24495558)
2014
5
Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation. (22805177)
2013
6
Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex. (24271014)
2013
7
Giant pilomatricoma in a patient with tuberous sclerosis, both diagnosed in the adult life. (23988820)
2013
8
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
9
Polycystic kidney disease and chronic renal failure in tuberous sclerosis. (24092520)
2013
10
Vigabatrin and mental retardation in tuberous sclerosis: infantile spasms versus focal seizures. (22752486)
2013
11
T2 weighted MRI for assessing renal lesions in transgenic mouse models of tuberous sclerosis. (21802234)
2012
12
Enhanced GABAergic network and receptor function in pediatric cortical dysplasia Type IIB compared with Tuberous Sclerosis Complex. (21889982)
2012
13
Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population. (21266383)
2011
14
Facial unilateral angiofibromas: a postzygotic tuberous sclerosis like mutation. (22016299)
2011
15
Effects of rapamycin on angiomyolipomas in patients with tuberous sclerosis. (21629335)
2011
16
Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review. (21692602)
2011
17
Neuropsychological attention skills and related behaviours in adults with tuberous sclerosis complex. (21191642)
2011
18
The morphologic spectrum of uterine PEC-cell associated tumors in a patient with tuberous sclerosis. (21293289)
2011
19
Genetic analysis of tuberous-sclerosis genes 1 and 2 in nonlesional focal epilepsy. (21555252)
2011
20
The management of subependymal giant cell tumors in tuberous sclerosis: a clinician's perspective. (21305305)
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

About this section

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

64
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:

6 (show all 26)
id Gene Name 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.1096G> T (p.Glu366Ter)single nucleotide variantPathogenicrs45517148GRCh37Chr 16, 2110791: 2110791
11TSC2NM_000548.3(TSC2): c.4508A> C (p.Gln1503Pro)single nucleotide variantPathogenicrs45516293GRCh37Chr 16, 2134966: 2134966
12TSC2NM_000548.3(TSC2): c.5238_5255del18 (p.His1746_Arg1751del)deletionPathogenicrs137854225GRCh37Chr 16, 2138305: 2138322
13TSC2NM_000548.3(TSC2): c.2714G> A (p.Arg905Gln)single nucleotide variantPathogenicrs45517259GRCh37Chr 16, 2126143: 2126143
14TSC2NM_000548.3(TSC2): c.2713C> T (p.Arg905Trp)single nucleotide variantPathogenicrs45517258GRCh37Chr 16, 2126142: 2126142
15TSC2NM_000548.3(TSC2): c.2713C> G (p.Arg905Gly)single nucleotide variantPathogenicrs45517258GRCh37Chr 16, 2126142: 2126142
16TSC2NM_000548.3(TSC2): c.2355+2_2355+5delTAGGdeletionPathogenicrs137854250GRCh37Chr 16, 2122986: 2122989
17TSC2NM_000548.3(TSC2): c.1322G> A (p.Trp441Ter)single nucleotide variantPathogenicrs45515894GRCh37Chr 16, 2112562: 2112562
18TSC1NM_000368.4(TSC1): c.812_813delAT (p.Tyr271Terfs)deletionPathogenicrs118203451GRCh37Chr 9, 135787769: 135787770
19TSC2NM_000548.3(TSC2): c.5138G> A (p.Arg1713His)single nucleotide variantPathogenicrs45517395GRCh37Chr 16, 2138118: 2138118
20TSC1NM_000368.4(TSC1): c.1888_1891delAAAG (p.Lys630Glnfs)deletionPathogenicrs118203595GRCh37Chr 9, 135781074: 135781077
21TSC1NM_000368.4(TSC1): c.749T> A (p.Leu250Ter)single nucleotide variantPathogenicrs118203447GRCh37Chr 9, 135787833: 135787833
22TSC1NM_000368.4(TSC1): c.1760A> G (p.Lys587Arg)single nucleotide variantPathogenicrs118203576GRCh37Chr 9, 135781205: 135781205
23TSC1NM_000368.4(TSC1): c.1904_1905delCA (p.Thr635Argfs)deletionPathogenicrs118203598GRCh37Chr 9, 135781060: 135781061
24TSC1NM_000368.4(TSC1): c.1671_1693del23 (p.Ser561Argfs)deletionPathogenicrs118203557GRCh37Chr 9, 135781272: 135781294
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

About this section
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

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 pathway37
9.4RPS6KB1, RPS6, PIK3CA
99.3PIK3CA, TSC2, MTOR, RHEB
10
Show member pathways
IFN-gamma pathway37
9.3RAP1A, MTOR, PIK3CA
11
Show member pathways
Signaling Pathways in Glioblastoma37
9.2CDKN1B, MTOR, TSC1, TSC2, PIK3CA
12
Show member pathways
IL2 signaling events mediated by STAT537
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 Pathway37
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 Cascade37
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway37
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 network37
ErbB signaling pathway37
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
8.4PIK3CA, TSC2, MTOR, RPS6KB1, RAP1A, RHEB
30
Show member pathways
Prolactin Signaling Pathway37
Development Prolactin receptor signaling60
Leptin signaling pathway37
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 pathway60
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 pathway37
7.9EIF4EBP1, RHEB, RPS6KB1, RPS6KA1, MTOR, TSC1
397.8PIK3CA, MTOR, RPS6KA1, RPS6, RPS6KB1, RAP1A
40
Show member pathways
IL-9 Signaling Pathway37
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway37
Immune response IL 9 signaling pathway60
7.8PIK3CA, MTOR, RPS6KA1, RPS6, RPS6KB1, RAP1A
41
Show member pathways
Prostate Cancer37
Integrated Cancer pathway37
Steroid Biosynthesis37
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 events37
ErbB2/ErbB3 signaling events37
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

About this section

Compounds related to Tuberous Sclerosis according to GeneCards/GeneDecks:

(show top 50)    (show all 80)
idCompoundScoreTop Affiliating Genes
1aicar44 24 1111.9RPS6KB1, MTOR, STK11
2sl 0101-1619.8RPS6KA1, RPS6KB1
3ptdins(3)p449.7RHOD, RPS6KB1, PIK3CA
4brd 7389619.7RPS6KB1, RPS6KA1
5bromodeoxyuridine449.6CDKN1B, RPS6KB1, GFAP, PIK3CA
6pf 4708671619.5RPS6KA1, RPS6KB1
7paraffin449.5GFAP, TSC2, TSC1, STK11, CDKN1B
8erlotinib44 50 1111.4PIK3CA, MTOR, RPS6, CDKN1B
9imatinib44 50 1111.3CDKN1B, RPS6, MTOR, PIK3CA
10guanosine44 24 1111.3RHOD, RAP1A, TSC1, TSC2
11resveratrol44 61 24 1112.2PIK3CA, MTOR, RPS6, RPS6KB1, CDKN1B
12testosterone44 61 24 1112.2PIK3CA, GFAP, TSC2, MTOR, PKD1, CDKN1B
13okadaic acid44 6110.0PIK3CA, TSC2, MTOR, RPS6KB1, EIF4EBP1
14alanine449.0GFAP, TSC1, STK11, PKD1, GSR, CDKN1B
15agar449.0CDKN1B, RAP1A, GFAP, PIK3CA
16everolimus44 50 1110.9PIK3CA, TSC2, TSC1, MTOR, RPS6KB1, EIF4EBP1
17estrogen448.9PIK3CA, GFAP, TSC2, MTOR, RPS6KB1, GSR
18dmso448.9PIK3CA, RPS6KB1, EIF4EBP1, CDKN1B
19superoxide44 249.8PIK3CA, GFAP, CCL26, GSR, RAP1A
20genistein44 28 61 2 24 1113.6PIK3CA, GFAP, MTOR, RPS6KB1, GSR, RHOD
21thymidine44 249.6PIK3CA, GFAP, RPS6, RPS6KB1, RHOD, CDKN1B
2212-o-tetradecanoylphorbol 13-acetate448.6MTOR, RPS6KB1, RAP1A, EIF4EBP1, CDKN1B
23arachidonic acid44 28 24 1111.6PIK3CA, MTOR, RPS6, RPS6KB1, EIF4EBP1
24dexamethasone44 50 28 1111.6PIK3CA, GFAP, MTOR, RPS6KB1, EIF4EBP1, CDKN1B
25glutamine448.4GFAP, RPS6KB1, RAP1A, EIF4EBP1, CDKN1B
26paclitaxel44 50 1110.4PIK3CA, GFAP, RPS6KB1, RHOD, EIF4EBP1, CDKN1B
27cisplatin44 50 61 1111.3PIK3CA, GFAP, MTOR, RPS6KB1, GSR, EIF4EBP1
28cyclic amp44 249.2GFAP, STK11, RPS6KA1, RPS6KB1, RAP1A, RHOD
29glutamate448.2PIK3CA, GFAP, PKD1, RPS6KA1, RPS6KB1, GSR
30gtp44 289.0PIK3CA, TSC2, MTOR, RPS6, RAP1A, RHEB
31adenylate448.0PIK3CA, GFAP, TSC2, STK11, GSR, RAP1A
32leucine448.0PIK3CA, GFAP, TSC2, MTOR, RPS6, RPS6KB1
33wortmannin447.7PIK3CA, TSC2, MTOR, RPS6, RPS6KB1, RHOD
34retinoic acid44 248.7PIK3CA, GFAP, MTOR, RPS6KA1, RPS6, RPS6KB1
35arginine447.7PIK3CA, GFAP, TSC2, MTOR, GSR, RAP1A
36pd 98,059447.5PIK3CA, GFAP, TSC1, MTOR, RPS6KA1, RPS6KB1
37calcium44 50 24 1110.3PIK3CA, GFAP, STK11, CCL26, MTOR, PKD1
38glucose447.1TSC1, TSC2, GFAP, PIK3CA, STK11, MTOR
39glycogen44 248.1PIK3CA, GFAP, TSC2, CDKN1B, EIF4EBP1, RPS6KB1
40lipid447.0PIK3CA, GFAP, TSC2, STK11, MTOR, RPS6KB1
41oxygen44 247.8GFAP, TSC2, STK11, CCL26, MTOR, RPS6KB1
42atp44 287.8PIK3CA, GFAP, TSC2, STK11, CCL26, MTOR
43ly294002446.7CDKN1B, EIF4EBP1, RHOD, RAP1A, RPS6KB1, RPS6
44phosphoinositide446.6CDKN1B, EIF4EBP1, RHOD, RHEB, RAP1A, RPS6KB1
45vegf446.4STK11, TSC1, TSC2, GFAP, PIK3CA, MTOR
46phosphatidylinositol446.2MTOR, TSC1, TSC2, PIK3CA, PKD1, RPS6KA1
47tyrosine445.9MTOR, TSC1, TSC2, GFAP, PIK3CA, PKD1
48rapamycin445.9STK11, TSC1, TSC2, PIK3CA, CCL26, MTOR
49threonine445.7CDKN1B, EIF4EBP1, RHOD, RAP1A, RPS6KB1, RPS6
50serine445.3CDKN1B, GFAP, PIK3CA, TSC2, TSC1, EIF4EBP1

GO Terms for genes affiliated with Tuberous Sclerosis

About this section

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

Sources for Tuberous Sclerosis

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet