MCID: TBR024
MIFTS: 53

Tuberous Sclerosis-1 malady

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

Summaries for Tuberous Sclerosis-1

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OMIM:47 Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple... (191100) more...

MalaCards based summary: Tuberous Sclerosis-1, also known as tuberous sclerosis, type 1, is related to astrocytoma and lymphangioleiomyomatosis, and has symptoms including intellectual disability, autosomal dominant inheritance and renal cyst. An important gene associated with Tuberous Sclerosis-1 is TSC1 (tuberous sclerosis 1), and among its related pathways are PI-3K cascade and Downstream Signaling Events Of B Cell Receptor (BCR). The compounds everolimus and guanosine have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and skin, and related mouse phenotypes are embryogenesis and liver/biliary system.

Genetics Home Reference:23 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.

GeneReviews summary for tuberous-sclerosis

Aliases & Classifications for Tuberous Sclerosis-1

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Tuberous Sclerosis-1, Aliases & Descriptions:

Name: Tuberous Sclerosis-1 47 11
Tuberous Sclerosis, Type 1 43 22 24
Tuberous Sclerosis Complex 21 22 23
Bourneville Disease 21 23
Bourneville Phakomatosis 23
 
Tuberous Sclerosis 1 47
Tuberose Sclerosis 23
Sclerosis Tuberosa 23
Cerebral Sclerosis 23
Epiloia 23


Classifications:



External Ids:

OMIM47 191100

Related Diseases for Tuberous Sclerosis-1

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Diseases in the Tuberous Sclerosis family:

tuberous sclerosis-1

Diseases related to Tuberous Sclerosis-1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 115)
idRelated DiseaseScoreTop Affiliating Genes
1astrocytoma31.5TSC1, TSC2
2lymphangioleiomyomatosis31.4TSC2, TSC1
3subependymal giant cell astrocytoma31.4TSC1, TSC2
4tuberous sclerosis30.9TSC1, TSC2
5neurofibromatosis30.8TSC1, TSC2
6polycystic kidney disease30.6TSC1, TSC2
7mental retardation30.6TSC2, TSC1
8kidney angiomyolipoma30.3TSC2, TSC1
9west syndrome30.3TSC1, TSC2
10ganglioglioma30.3TSC2, TSC1
11peutz-jeghers syndrome30.3TSC1, TSC2
12autistic disorder30.3TSC1, TSC2
13kidney cancer30.3TSC1, TSC2
14angiomyolipoma30.2TSC2, TSC1
15hepatitis10.6
16fibroma10.5
17giant cell tumor10.5
18pancreatitis10.5
19hemimegalencephaly10.5
20aneurysm10.5
21neurofibromatosis, type 110.5
22kidney disease10.5
23chordoma10.4
24intracranial aneurysm10.4
25retinitis10.4
26sleep disorder10.4
27blindness10.4
28end stage renal failure10.4
29lymphedema10.4
30neuronitis10.4
31mutism10.4
32hepatic angiomyolipoma10.4
33arachnoiditis10.4
34autism spectrum disorder10.4
35encephalitis10.4
36melanoma10.4
37neuroendocrine tumor10.4
38arachnoid cysts10.4
39weber syndrome10.4
40endotheliitis10.4
41tsc2 angiomyolipomas, renal, modifier of10.3
42adrenoleukodystrophy10.3
43medulloblastoma10.2
44prostate cancer10.2
45hepatocellular carcinoma10.2
46hepatitis c virus10.2
47attention deficit-hyperactivity disorder10.2
48wolff-parkinson-white syndrome10.2
49pancreatic cancer10.2
50rett syndrome10.2

Graphical network of the top 20 diseases related to Tuberous Sclerosis-1:



Diseases related to tuberous sclerosis-1

Symptoms for Tuberous Sclerosis-1

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Symptoms by clinical synopsis from OMIM:

191100

Clinical features from OMIM:

191100

HPO human phenotypes related to Tuberous Sclerosis-1:

(show all 33)
id Description Frequency HPO Source Accession
1 intellectual disability 30% HP:0001249
2 autosomal dominant inheritance HP:0000006
3 renal cyst HP:0000107
4 gingival fibromatosis HP:0000169
5 autism HP:0000717
6 hypothyroidism HP:0000821
7 precocious puberty HP:0000826
8 cafe-au-lait spot HP:0000957
9 specific learning disability HP:0001328
10 subcutaneous nodule HP:0001482
11 wolff-parkinson-white syndrome HP:0001716
12 abnormality of the respiratory system HP:0002086
13 cerebral calcification HP:0002514
14 ependymoma HP:0002888
15 phenotypic variability HP:0003812
16 renal cell carcinoma HP:0005584
17 renal angiomyolipoma HP:0006772
18 attention deficit hyperactivity disorder HP:0007018
19 projection of scalp hair onto lateral cheek HP:0009554
20 astrocytoma HP:0009592
21 subependymal nodules HP:0009716
22 cortical tubers HP:0009717
23 hypomelanotic macules HP:0009719
24 adenoma sebaceum HP:0009720
25 shagreen patch HP:0009721
26 dental enamel pits HP:0009722
27 subungual fibromas HP:0009724
28 achromatic retinal patches HP:0009727
29 cardiac rhabdomyoma HP:0009729
30 optic glioma HP:0009734
31 chordoma HP:0010762
32 infantile spasms HP:0012469
33 premature chromatid separation HP:0200024

Drugs & Therapeutics for Tuberous Sclerosis-1

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Drug clinical trials:

Search ClinicalTrials for Tuberous Sclerosis-1

Search NIH Clinical Center for Tuberous Sclerosis-1

Genetic Tests for Tuberous Sclerosis-1

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Genetic tests related to Tuberous Sclerosis-1:

id Genetic test Affiliating Genes
1 Tuberous Sclerosis Complex22 TSC2
2 Tuberous Sclerosis 122 24 TSC1

Anatomical Context for Tuberous Sclerosis-1

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MalaCards organs/tissues related to Tuberous Sclerosis-1:

33
Brain, Kidney, Skin, Heart, Lung

Animal Models for Tuberous Sclerosis-1 or affiliated genes

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MGI Mouse Phenotypes related to Tuberous Sclerosis-1:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.5UBC, TSC1, TSC2
2MP:00053708.2UBC, TSC1, TSC2

Publications for Tuberous Sclerosis-1

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Articles related to Tuberous Sclerosis-1:

idTitleAuthorsYear
1
The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination. (11175345)
2000

Variations for Tuberous Sclerosis-1

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UniProtKB/Swiss-Prot genetic disease variations for Tuberous Sclerosis-1:

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-1:

7 (show all 25)
id Gene Variation 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 variantPathogenicrs28934872GRCh37Chr 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 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

Cosmic variations for Tuberous Sclerosis-1:

8 (show all 68)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
114312VHLkidney,NS,carcinoma,renal cell carcinoma3
217983VHLkidney,NS,carcinoma,renal cell carcinoma3
314284VHLkidney,NS,carcinoma,renal cell carcinoma3
417957VHLkidney,NS,carcinoma,renal cell carcinoma3
514382VHLkidney,NS,carcinoma,renal cell carcinoma3
630410VHLkidney,NS,carcinoma,renal cell carcinoma3
711984TP53kidney,NS,carcinoma,renal cell carcinoma3
810648TP53kidney,NS,carcinoma,renal cell carcinoma3
910656TP53kidney,NS,carcinoma,renal cell carcinoma3
1010768TP53lung,NS,carcinoma,undifferentiated carcinoma3
1110742TP53lung,NS,carcinoma,undifferentiated carcinoma3
12520KRASlung,NS,carcinoma,undifferentiated carcinoma3
13516KRASlung,NS,carcinoma,undifferentiated carcinoma3
141676793KRASkidney,NS,carcinoma,renal cell carcinoma3
15307445GIT2kidney,NS,carcinoma,renal cell carcinoma3
161677336GIT2kidney,NS,carcinoma,renal cell carcinoma3
171675176RETkidney,NS,carcinoma,renal cell carcinoma3
1895174RETlung,NS,carcinoma,undifferentiated carcinoma3
1994614LMTK2lung,NS,carcinoma,undifferentiated carcinoma3
2094681MAXlung,NS,carcinoma,undifferentiated carcinoma3
211670294FLNBkidney,NS,carcinoma,renal cell carcinoma3
221682806GUCY2Fkidney,NS,carcinoma,renal cell carcinoma3
231677789LIG4kidney,NS,carcinoma,renal cell carcinoma3
241683084FBXW4kidney,NS,carcinoma,renal cell carcinoma3
2594548ITPR3lung,NS,carcinoma,undifferentiated carcinoma3
2694510INSRRlung,NS,carcinoma,undifferentiated carcinoma3
271675310HKDC1kidney,NS,carcinoma,renal cell carcinoma3
281682757KLHL4kidney,NS,carcinoma,renal cell carcinoma3
2922853E2F7kidney,NS,carcinoma,renal cell carcinoma3
301681624CBFA2T2kidney,NS,carcinoma,renal cell carcinoma3
3125413ANKRD60kidney,NS,carcinoma,renal cell carcinoma3
321671070ANKRD17kidney,NS,carcinoma,renal cell carcinoma3
3322805ADAM7kidney,NS,carcinoma,renal cell carcinoma3
341671225ANK2kidney,NS,carcinoma,renal cell carcinoma3
351683097CDC42BPBkidney,NS,carcinoma,renal cell carcinoma3
3613489CDKN2Akidney,NS,carcinoma,renal cell carcinoma3
3727222MMP2kidney,NS,carcinoma,renal cell carcinoma3
3812979EGFRlung,NS,carcinoma,undifferentiated carcinoma3
391676177DPF2kidney,NS,carcinoma,renal cell carcinoma3
4024266DGKIkidney,NS,carcinoma,renal cell carcinoma3
411680669EPORkidney,NS,carcinoma,renal cell carcinoma3
4221735PMLkidney,NS,carcinoma,renal cell carcinoma3
4395334TIAM1lung,NS,carcinoma,undifferentiated carcinoma3
441683105TEX14kidney,NS,carcinoma,renal cell carcinoma3
451669645SATB2kidney,NS,carcinoma,renal cell carcinoma3
4624274SMAD4kidney,NS,carcinoma,renal cell carcinoma3
471669602WDR75kidney,NS,carcinoma,renal cell carcinoma3
481674226ZFP41kidney,NS,carcinoma,renal cell carcinoma3
4994159UBR5lung,NS,carcinoma,undifferentiated carcinoma3
5095420TYK2lung,NS,carcinoma,undifferentiated carcinoma3
5125383TRPA1kidney,NS,carcinoma,renal cell carcinoma3
521683057TTF2kidney,NS,carcinoma,renal cell carcinoma3
5321103ROR1kidney,NS,carcinoma,renal cell carcinoma3
5494327RNF145lung,NS,carcinoma,undifferentiated carcinoma3
5521847PREX2kidney,NS,carcinoma,renal cell carcinoma3
561677360PTPN11kidney,NS,carcinoma,renal cell carcinoma3
5723140PPP1R10kidney,NS,carcinoma,renal cell carcinoma3
581680950ZNF383kidney,NS,carcinoma,renal cell carcinoma3
5994967PIK3C2Alung,NS,carcinoma,undifferentiated carcinoma3
601680798PIK3R2kidney,NS,carcinoma,renal cell carcinoma3
611673226PTPN12kidney,NS,carcinoma,renal cell carcinoma3
621683107PTPRMkidney,NS,carcinoma,renal cell carcinoma3
631675206RBP3kidney,NS,carcinoma,renal cell carcinoma3
64322959RAB3Ckidney,NS,carcinoma,renal cell carcinoma3
651681684PTPRTkidney,NS,carcinoma,renal cell carcinoma3
661682139RAB36kidney,NS,carcinoma,renal cell carcinoma3
6721092NEK6kidney,NS,carcinoma,renal cell carcinoma3

Expression for genes affiliated with Tuberous Sclerosis-1

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Search GEO for disease gene expression data for Tuberous Sclerosis-1.

Pathways for genes affiliated with Tuberous Sclerosis-1

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Pathways related to Tuberous Sclerosis-1 according to GeneCards/GeneDecks:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1TSC2, UBC
2
Show member pathways
9.1TSC2, UBC
3
Show member pathways
9.1TSC2, UBC
4
Show member pathways
Signaling Pathways in Glioblastoma38
9.0TSC1, TSC2
59.0TSC1, TSC2
69.0TSC1, TSC2
7
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
9.0TSC1, TSC2
8
Show member pathways
9.0TSC2, TSC1
99.0TSC1, TSC2
109.0TSC1, TSC2
119.0TSC1, TSC2
129.0TSC2, TSC1
139.0TSC1, TSC2
149.0TSC2, TSC1
159.0TSC2, TSC1
16
Show member pathways
9.0TSC1, TSC2
17
Show member pathways
9.0TSC2, TSC1
18
Show member pathways
Prostate Cancer38
Integrated Cancer pathway38
Steroid Biosynthesis38
9.0TSC2, TSC1
19
Show member pathways
Immune response IL 4 signaling pathway60
Signal transduction AKT signaling60
9.0TSC1, TSC2
20
Show member pathways
mTOR signaling pathway38
9.0TSC2, TSC1
21
Show member pathways
8.5TSC1, UBC, TSC2

Compounds for genes affiliated with Tuberous Sclerosis-1

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Sources:
45Novoseek, 51PharmGKB, 13DrugBank, 26HMDB
See all sources

Compounds related to Tuberous Sclerosis-1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1everolimus45 51 1311.1TSC1, TSC2
2guanosine45 26 1311.1TSC1, TSC2
3rapamycin459.0TSC1, TSC2
4paraffin459.0TSC1, TSC2
5glycogen45 269.9TSC2, TSC1
6phosphoinositide458.7TSC1, TSC2

GO Terms for genes affiliated with Tuberous Sclerosis-1

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Cellular components related to Tuberous Sclerosis-1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1TSC1-TSC2 complexGO:00335968.9TSC1, TSC2
2growth coneGO:00304268.7TSC1, TSC2
3cytosolGO:00058298.5UBC, TSC1, TSC2

Biological processes related to Tuberous Sclerosis-1 according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell sizeGO:00457929.3TSC1, TSC2
2negative regulation of TOR signalingGO:00320079.3TSC1, TSC2
3cell projection organizationGO:00300309.3TSC1, TSC2
4protein heterooligomerizationGO:00512919.2TSC2, TSC1
5neural tube closureGO:00018439.2TSC1, TSC2
6fibroblast growth factor receptor signaling pathwayGO:00085439.2UBC, TSC2
7cell cycle arrestGO:00070509.2TSC1, TSC2
8insulin receptor signaling pathwayGO:00082869.1TSC2, TSC1
9Fc-epsilon receptor signaling pathwayGO:00380959.1UBC, TSC2
10negative regulation of cell proliferationGO:00082859.0TSC1, TSC2
11epidermal growth factor receptor signaling pathwayGO:00071739.0TSC2, UBC
12neurotrophin TRK receptor signaling pathwayGO:00480118.8UBC, TSC2

Products for genes affiliated with Tuberous Sclerosis-1

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Sources for Tuberous Sclerosis-1

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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