MCID: TBR022
MIFTS: 41

Tuberous Sclerosis Complex malady

Summaries for Tuberous Sclerosis Complex

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21Genetics Home Reference, 19GeneReviews, 32MalaCards
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Genetics Home Reference:21 Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. These tumors can occur in the skin, brain, kidneys, and other organs, in some cases leading to significant health problems. Tuberous sclerosis complex also causes developmental problems, and the signs and symptoms of the condition vary from person to person.

MalaCards: Tuberous Sclerosis Complex, also known as bourneville disease, is related to tuberous sclerosis and astrocytoma. An important gene associated with Tuberous Sclerosis Complex is TSC2 (tuberous sclerosis 2), and among its related pathways are Inhibition of TSC complex formation by PKB and Glioblastoma Multiforme. The compounds everolimus and estrogen have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and skin, and related mouse phenotypes are tumorigenesis and homeostasis/metabolism.

GeneReviews summary for tuberous-sclerosis

Aliases & Classifications for Tuberous Sclerosis Complex

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60UMLS, 21Genetics Home Reference, 19GeneReviews, 20GeneTests
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Aliases & Descriptions:

tuberous sclerosis complex 19 20 21
bourneville disease 19 21
bourneville phakomatosis 21
tuberous sclerosis 60
tuberose sclerosis 21
cerebral sclerosis 21
sclerosis tuberosa 21
epiloia 21


Related Diseases for Tuberous Sclerosis Complex

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17GeneCards, 18GeneDecks
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Diseases related to Tuberous Sclerosis Complex via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 209)
idRelated DiseaseScoreTop Affiliating Genes
1tuberous sclerosis32.3TSC2, TSC1, EIF4EBP1, RHEB, MTOR, STK11
2astrocytoma31.4STK11, TSC1, TSC2
3lymphangioleiomyomatosis31.3TSC2, TSC1
4subependymal giant cell astrocytoma31.3MTOR, TSC1, TSC2
5angiomyolipoma31.3CCL26, MTOR, RHEB, TSC1, TSC2
6kidney angiomyolipoma30.4TSC2, TSC1, MTOR
7melanoma30.4RPS6KA1, STK11, MTOR, NTF4, EIF4EBP1, TSC2
8polycystic kidney disease30.4TSC2, MTOR
9ganglioglioma30.2PVALB, TSC1, TSC2
10autosomal dominant disease30.2STK11
11polycystic kidney disease, autosomal dominant30.2MTOR, TSC1, TSC2
12pneumothorax30.2TSC1, FLCN
13kidney cancer30.2MTOR, FLCN
14esophagitis30.2CCL26
15peutz-jeghers syndrome30.2STK11, MTOR, TSC1, TSC2
16autistic disorder30.2TSC2, TSC1, NTF4
17prostate cancer30.2RPS6KB1, PSMC4, MTOR, EIF4EBP1, EREG
18pancreatic cancer30.2RPS6KB1, STK11, MTOR, EIF4EBP1, RALA, EREG
19adenocarcinoma30.2RPS6KB1, CCL26, STK11, EIF4EBP1, EREG, TSC1
20renal clear cell carcinoma30.2MTOR, PVALB
21perivascular epithelioid cell tumor30.0TSC2, RHEB
22cystic kidney30.0TSC2, TSC1, CCL26
23epilepsy syndrome30.0PVALB, CCL26, CALB1, PSMC4, TSC1, TSC2
24leukemia30.0RPS6KB1, PPP1R15A, MTOR, NTF4, EIF4EBP1
25bladder carcinoma30.0TSC1, EREG, RALA, S100A7, CCL26
26cerebritis10.6
27giant cell tumor10.5
28hepatitis10.5
29neurofibromatosis10.5
30multiple sclerosis10.5
31pancreatitis10.5
32renal cell carcinoma10.5
33polycystic kidneys, severe infantile with tuberous sclerosis10.5
34hepatic angiomyolipoma10.4
35intracranial aneurysm10.4
36neuronitis10.4
37hepatitis a10.4
38chordoma10.4
39kidney disease10.4
40retinitis10.4
41sleep disorder10.4
42tuberous sclerosis, type 210.4
43autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis10.3
44lateral sclerosis10.3
45arachnoiditis10.3
46end stage renal failure10.3
47autism spectrum disorder10.3
48lymphedema10.3
49neuroendocrine tumor10.3
50atypical autism10.2

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



Diseases related to tuberous sclerosis complex

Clinical Features for Tuberous Sclerosis Complex

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Drugs & Therapeutics for Tuberous Sclerosis Complex

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Tuberous Sclerosis Complex

Drug clinical trials:

Search ClinicalTrials for Tuberous Sclerosis Complex

Search NIH Clinical Center for Tuberous Sclerosis Complex

Search CenterWatch for Tuberous Sclerosis Complex

Genetic Tests for Tuberous Sclerosis Complex

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20GeneTests
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Genetic tests related to Tuberous Sclerosis Complex:

id Genetic test Affiliating Genes
1 Tuberous Sclerosis Complex20 TSC2

Anatomical Context for Tuberous Sclerosis Complex

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32MalaCards
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MalaCards organs/tissues related to Tuberous Sclerosis Complex:

32
Brain, Kidney, Skin

Animal Models for Tuberous Sclerosis Complex or affiliated genes

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36MGI
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Publications for Tuberous Sclerosis Complex

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Genetic Variations for Tuberous Sclerosis Complex

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Expression for genes affiliated with Tuberous Sclerosis Complex

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Tuberous Sclerosis Complex

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

Pathways for genes affiliated with Tuberous Sclerosis Complex

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Sources:
53Reactome, 51QIAGEN, 37NCBI BioSystems Database, 12EMD Millipore, 29KEGG, 59Tocris Bioscience, 49PharmGKB, 4Cell Signaling Technology, 52R&D Systems
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Pathways related to Tuberous Sclerosis Complex according to GeneCards/GeneDecks:

(show all 43)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4TSC1, TSC2
210.4TSC2, TSC1, RPS6KB1
310.4RPS6KB1, CCL26, MTOR
4
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10.4RPS6KB1, MTOR, RHEB
510.3MTOR, RPS6KA1, RPS6KB1
610.3EIF4EBP1, MTOR, RPS6KB1
710.3RALA, DUSP6, MTOR
8
Hide members
10.3RHEB, MTOR, RPS6KA1
910.3TSC2, TSC1, MTOR, STK11
10
Hide members
10.3RPS6KB1, RPS6KA1, EIF4EBP1
11
Hide members
10.3EIF4EBP1, RPS6KA1, RPS6KB1
12
Development Endothelin-1/EDNRA signaling
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10.3RPS6KB1, MTOR, RHEB, TSC2
13
Transcription Androgen Receptor nuclear signaling
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10.3RPS6KB1, MTOR, EIF4EBP1, TSC2
14
Development Prolactin receptor signaling
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10.3SLC2A2, EIF4EBP1, MTOR, RPS6KB1
15
Hide members
10.3RPS6KB1, MTOR, RHEB, EIF4EBP1
16
Hide members
10.3TSC2, EREG, MTOR, PSMC4
17
Hide members
10.3RPS6KB1, MTOR, EIF4EBP1, EREG
18
Hide members
10.3RHEB, STK11, PPP1R15A, RPS6KA1
1910.3RPS6KB1, STK11, EIF4EBP1, TSC1, TSC2
20
Hide members
10.3RPS6KB1, PSMC4, PPP1R15A, EIF4EBP1
2110.3MTOR, RHEB, EIF4EBP1, TSC1, TSC2
22
Hide members
10.3RPS6KB1, MTOR, RHEB, EIF4EBP1, TSC2
23
Translation Translation regulation by Alpha-1 adrenergic receptors
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10.3RPS6KB1, MTOR, RHEB, EIF4EBP1, TSC2
2410.3RPS6KB1, MTOR, RHEB, EIF4EBP1, TSC2
25
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10.3RPS6KB1, RPS6KA1, PSMC4, TSC1, TSC2
2610.3RPS6KB1, RPS6KA1, MTOR, EIF4EBP1, TSC2
27
Hide members
10.2EIF4EBP1, NTF4, MTOR, FLCN, RPS6KA1
2810.2RPS6KB1, FLCN, MTOR, EIF4EBP1, TSC1, TSC2
2910.2RPS6KB1, STK11, MTOR, EIF4EBP1, TSC1, TSC2
3010.2RPS6KB1, MTOR, RHEB, EIF4EBP1, TSC1, TSC2
31
Hide members
10.2RPS6KB1, CCL26, EIF4EBP1, RALA, TSC1, TSC2
3210.2STK11, MTOR, RHEB, RALA, TSC1, TSC2
33
Hide members
10.2RPS6KA1, MTOR, DUSP6, RALA, EREG, TSC2
34
Hide members
10.2RPS6KB1, RPS6KA1, CCL26, PSMC4, DUSP6, EIF4EBP1
3510.2RPS6KB1, STK11, MTOR, RHEB, EIF4EBP1, TSC1
36
Hide members
10.2TSC2, RPS6KB1, STK11, MTOR, RHEB, EIF4EBP1
37
Hide members
10.2RPS6KB1, STK11, MTOR, RHEB, EIF4EBP1, TSC1
38
Hide members
10.2RPS6KB1, RPS6KA1, MTOR, RHEB, EIF4EBP1, TSC1
3910.2RPS6KB1, RPS6KA1, MTOR, RHEB, EIF4EBP1, TSC1
4010.2RPS6KB1, RPS6KA1, MTOR, RHEB, EIF4EBP1, TSC1
41
Translation Insulin regulation of translation
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10.1RPS6KB1, RPS6KA1, STK11, MTOR, RHEB, EIF4EBP1
42
Hide members
10.1RPS6KA1, CCL26, PPP1R15A, STK11, RHEB, RALA
43
Hide members
9.9RPS6KB1, RPS6KA1, PSMC4, PPP1R15A, STK11, MTOR

Compounds for genes affiliated with Tuberous Sclerosis Complex

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49PharmGKB, 44Novoseek, 11DrugBank, 24HMDB, 59Tocris Bioscience, 28IUPHAR
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Compounds related to Tuberous Sclerosis Complex according to GeneCards/GeneDecks:

(show all 38)
idCompoundScoreTop Affiliating Genes
1everolimus49 44 1112.7EIF4EBP1, MTOR, RPS6KB1
2estrogen4410.7S100A7, PVALB
3quinolinic acid44 2411.7PVALB, CALB1, NTF4
4aicar44 11 2412.7RPS6KB1, STK11, MTOR
5brd 73895910.7RPS6KB1, RPS6KA1
6pf 47086715910.6RPS6KB1, RPS6KA1
7anisomycin44 1111.6RPS6KB1, PSMC4, MTOR, EIF4EBP1
8sl 0101-15910.6RPS6KB1, RPS6KA1
9okadaic acid44 5911.6RPS6KB1, PPP1R15A, MTOR, EIF4EBP1, TSC2
10pd 98,0594410.6RPS6KB1, RPS6KA1, MTOR, DUSP6, EIF4EBP1, TSC1
11paraffin4410.6TSC2, TSC1, SLC2A2, STK11, PVALB
12wortmannin4410.6TSC2, EIF4EBP1, MTOR, PSMC4, RPS6KB1
13ly2940024410.6RPS6KB1, RPS6KA1, PSMC4, MTOR, EIF4EBP1, TSC2
14leucine4410.6TSC2, SLC2A2, EIF4EBP1, MTOR, PSMC4, RPS6KB1
15forskolin44 49 1112.5RPS6KB1, CALB1, NTF4, SLC2A2, EREG
162-deoxyglucose44 1111.5SLC2A2, STK11, RPS6KB1
17phosphoinositide4410.5RPS6KB1, RPS6KA1, PSMC4, MTOR, RHEB, EIF4EBP1
18vegf4410.5RPS6KB1, PSMC4, PPP1R15A, STK11, MTOR, EIF4EBP1
19phenylephrine44 28 11 2413.5RPS6KB1, DUSP6, EIF4EBP1
20glycogen44 2411.5RPS6KB1, RPS6KA1, PSMC4, STK11, MTOR, EIF4EBP1
21farnesylthiosalicylic acid44 2811.5EIF4EBP1, MTOR
22retinoic acid44 2411.5RPS6KB1, RPS6KA1, CALB1, S100A7, MTOR, NTF4
23cisplatin44 49 59 1113.5RPS6KB1, PPP1R15A, MTOR, NTF4, EIF4EBP1
24threonine4410.5RPS6KB1, RPS6KA1, PSMC4, PPP1R15A, STK11, MTOR
25phosphatidylinositol4410.5RPS6KB1, RPS6KA1, PSMC4, MTOR, NTF4, EIF4EBP1
26glucose4410.4STK11, PSMC4, CALB1, RPS6KB1, MTOR, RHEB
27oxygen44 2411.4RPS6KB1, CCL26, S100A7, PSMC4, STK11, MTOR
28rapamycin4410.4TSC2, RPS6KB1, RPS6KA1, CCL26, PSMC4, STK11
29nitric oxide44 11 2412.4RPS6KB1, PVALB, CALB1, PSMC4, DUSP6, EIF4EBP1
30butanol4410.4EIF4EBP1, RPS6KB1
31atp44 2811.4RPS6KB1, RPS6KA1, PVALB, CCL26, CALB1, PSMC4
32calcium44 49 11 2413.4RPS6KB1, PVALB, CCL26, CALB1, S100A7, PSMC4
3312-o-tetradecanoylphorbol 13-acetate4410.3RPS6KB1, PSMC4, MTOR, EIF4EBP1
34serine4410.3PPP1R15A, PSMC4, PVALB, RPS6KA1, RPS6KB1, STK11
35acetylcholine44 49 28 11 2414.3NTF4, CALB1, PVALB, RPS6KB1
36tyrosine4410.3PSMC4, CALB1, PVALB, RPS6KA1, RPS6KB1, MTOR
37ethanol44 49 11 2413.2RPS6KB1, PVALB, NTF4, EIF4EBP1
38acadesine4410.1STK11, RPS6KB1

GO Terms for genes affiliated with Tuberous Sclerosis Complex

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16Gene Ontology
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Cellular components related to Tuberous Sclerosis Complex according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1membraneGO:01602010.2TSC2, TSC1, SLC2A2, RHEB, MTOR, STK11
2TSC1-TSC2 complexGO:03359610.1TSC1, TSC2
3cytosolGO:0058299.9TSC2, RPS6KB1, RPS6KA1, CALB1, S100A7, PSMC4
4cytoplasmGO:0057379.8PSMC4, S100A7, PVALB, RPS6KA1, RPS6KB1, STK11

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell sizeGO:04579210.6TSC2, TSC1, MTOR
2TOR signaling cascadeGO:03192910.6RPS6KB1, FLCN, MTOR, EIF4EBP1
3negative regulation of TOR signaling cascadeGO:03200710.6FLCN, TSC1, TSC2
4cell cycle arrestGO:00705010.5PPP1R15A, STK11, RHEB, TSC1, TSC2
5phosphatidylinositol-mediated signalingGO:04801510.5TSC2, EREG, MTOR, RPS6KB1
6insulin receptor signaling pathwayGO:00828610.5TSC2, TSC1, EIF4EBP1, RHEB, MTOR, STK11
7protein heterooligomerizationGO:05129110.4STK11, TSC1, TSC2
8neurotrophin TRK receptor signaling pathwayGO:04801110.4RPS6KA1, MTOR, DUSP6, RALA, EREG, TSC2
9regulation of protein kinase activityGO:04585910.4TSC1, MTOR
10response to glucagon stimulusGO:03376210.4STK11, RPS6KB1
11innate immune responseGO:04508710.3RPS6KA1, S100A7, MTOR, DUSP6, EREG, TSC2
12signal transductionGO:00716510.1RPS6KB1, RPS6KA1, CCL26, MTOR, RHEB, RALA
13positive regulation of TOR signaling cascadeGO:03200810.1RHEB, FLCN

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055159.8TSC2, RPS6KA1, CALB1, S100A7, PSMC4, PPP1R15A

Products for genes affiliated with Tuberous Sclerosis Complex

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  • Antibodies
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Sources for Tuberous Sclerosis Complex

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet