MCID: TBR024
MIFTS: 47

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:45 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 lymphangioleiomyomatosis and subependymal giant cell astrocytoma, 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: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.

GeneReviews summary for tuberous-sclerosis

Aliases & Classifications for Tuberous Sclerosis-1

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Tuberous Sclerosis-1, Aliases & Descriptions:

Name: Tuberous Sclerosis-1 45 10
Tuberous Sclerosis, Type 1 41 20 22
Tuberous Sclerosis Complex 19 20 21
Tuberous Sclerosis 1 45 60
Bourneville Disease 19 21
Bourneville Phakomatosis 21
 
Tuberose Sclerosis 21
Tuberous Sclerosis 60
Sclerosis Tuberosa 21
Cerebral Sclerosis 21
Epiloia 21


Classifications:



External Ids:

OMIM45 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 Suite gene sharing:

(show top 50)    (show all 115)
idRelated DiseaseScoreTop Affiliating Genes
1lymphangioleiomyomatosis31.4TSC2, TSC1
2subependymal giant cell astrocytoma31.4TSC1, TSC2
3astrocytoma31.3TSC1, TSC2
4tuberous sclerosis30.9TSC1, TSC2
5neurofibromatosis30.8TSC1, TSC2
6polycystic kidney disease30.6TSC1, TSC2
7mental retardation30.4TSC2, TSC1
8kidney angiomyolipoma30.3TSC2, TSC1
9west syndrome30.3TSC1, TSC2
10ganglioglioma30.3TSC2, TSC1
11peutz-jeghers syndrome30.3TSC1, TSC2
12autistic disorder30.2TSC1, TSC2
13angiomyolipoma30.2TSC2, TSC1
14kidney cancer30.0TSC1, TSC2
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 failure10.3
29lymphedema10.3
30neuronitis10.3
31mutism10.3
32hepatic angiomyolipoma10.3
33arachnoiditis10.3
34autism spectrum disorder10.3
35encephalitis10.3
36melanoma10.3
37neuroendocrine tumor10.3
38arachnoid cysts10.3
39weber syndrome10.3
40endotheliitis10.3
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 Complex20 TSC2
2 Tuberous Sclerosis 120 22 TSC1

Anatomical Context for Tuberous Sclerosis-1

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MalaCards organs/tissues related to Tuberous Sclerosis-1:

31
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:

35
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:

62
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:

6 (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

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 Suite gene sharing:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1UBC, TSC2
2
Show member pathways
9.1UBC, TSC2
3
Show member pathways
9.1UBC, TSC2
4
Show member pathways
Signaling Pathways in Glioblastoma36
9.0TSC2, TSC1
59.0TSC1, TSC2
69.0TSC1, TSC2
7
Show member pathways
Transcription Receptor mediated HIF regulation58
Development CNTF receptor signaling58
Class IB PI3K non-lipid kinase events36
ErbB2/ErbB3 signaling events36
Development Growth hormone signaling via PI3K AKT and MAPK cascades58
Translation Regulation activity of EIF258
Regulation of lipid metabolism Insulin signaling generic cascades58
Transcription PPAR Pathway58
Cell adhesion PLAU signaling58
Translation Regulation activity of EIF4F58
9.0TSC1, TSC2
8
Show member pathways
9.0TSC1, TSC2
99.0TSC2, TSC1
109.0TSC1, TSC2
119.0TSC2, TSC1
129.0TSC1, TSC2
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 Cancer36
Integrated Cancer pathway36
Steroid Biosynthesis36
9.0TSC1, TSC2
19
Show member pathways
Development IGF RI signaling
Immune response IL 4 signaling pathway58
Signal transduction AKT signaling58
9.0TSC1, TSC2
20
Show member pathways
mTOR signaling pathway36
9.0TSC1, TSC2
21
Show member pathways
8.5TSC2, TSC1, UBC

Compounds for genes affiliated with Tuberous Sclerosis-1

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Sources:
43Novoseek, 49PharmGKB, 12DrugBank, 24HMDB
See all sources

Compounds related to Tuberous Sclerosis-1 according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1everolimus43 49 1211.1TSC1, TSC2
2guanosine43 24 1211.1TSC1, TSC2
3rapamycin439.0TSC1, TSC2
4paraffin439.0TSC1, TSC2
5glycogen43 249.9TSC2, TSC1
6phosphoinositide438.7TSC1, TSC2

GO Terms for genes affiliated with Tuberous Sclerosis-1

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Cellular components related to Tuberous Sclerosis-1 according to GeneCards Suite gene sharing:

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 Suite gene sharing:

(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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  • Antibodies
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  • Kits and Assays

Sources for Tuberous Sclerosis-1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet