Details of Disease

General Information of Disease (ID: DISEMUGZ)

Disease Name	Tuberous sclerosis
Synonyms	tuberous sclerosis Complex; ts - tuberous sclerosis; syndrome, Bourneville's; syndrome, Bourneville; sclerosis, tuberous; sclerosis, tuberose; sclerosis, cerebral; sclerosis Tuberosa; phakomatosis, Bourneville; disease, Bourneville-pringle's; disease, Bourneville-pringle; cerebral Scleroses; bourneville's disease; adenoma sebaceum syndrome; adenoma sebaceum; Phacomatosis, Bourneville; Bourneville-pringle's disease; Bourneville-pringle disease; Bourneville-Pringles disease; Bourneville pringle's disease; Bourneville pringle disease; Bourneville phakomatosis; Bourneville disease; Bourneville Phacomatosis; tuberous sclerosis syndrome; tuberous sclerosis complex; tuberous sclerosis; tuberose sclerosis; cerebral sclerosis; TSC; Epiloia; Bourneville's syndrome; Bourneville's disease; Bourneville syndrome
Disease Class	LD2D: Phakomatoses/hamartoneoplastic syndrome
Definition	Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade.
Disease Hierarchy	DIS3HIWD: Autosomal dominant disease DISGXLG5: Hereditary neoplastic syndrome DISNC82H: Neurocutaneous syndrome DISD715V: Hereditary neurological disease DISEMUGZ: Tuberous sclerosis
ICD Code	ICD-11 ICD-11: LD2D.2 ICD-10 ICD-10: Q85.1 Expand ICD-11 'LD2D.2 Expand ICD-10 'Q85.1
Disease Identifiers	MONDO ID MONDO_0001734 MESH ID D014402 UMLS CUI C0041341 MedGen ID 22518 Orphanet ID 805 SNOMED CT ID 7199000

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Everolimus	DM8X2EH	Approved	Small molecular drug	[1]
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This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
TAK-935	DMOZAMN	Phase 2	NA	[2]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 23 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CLN3	TTORF9W	Limited	Biomarker	[3]
GNA11	TTSRXJW	Limited	Genetic Variation	[4]
LILRB2	TTHC6XU	Limited	Altered Expression	[5]
MLYCD	TT9Z4YD	Limited	Biomarker	[6]
OGG1	TTRU01G	Limited	Biomarker	[7]
PIM3	TTCGOIN	Limited	Biomarker	[8]
PRKD1	TTSLUMT	Limited	Genetic Variation	[9]
SLC12A5	TTH6UZY	Limited	Altered Expression	[10]
RGS6	TTJ96M8	Disputed	Biomarker	[11]
HMBS	TTT0HW3	moderate	Genetic Variation	[12]
LINGO1	TTZYQ80	moderate	Altered Expression	[13]
NTF4	TTIM2WO	moderate	Altered Expression	[14]
PAK2	TT279WO	moderate	Biomarker	[15]
TRPC4	TTX0H5W	moderate	Altered Expression	[16]
CRTC1	TT4GO0F	Strong	Altered Expression	[17]
DDIT4	TTVEOY6	Strong	Altered Expression	[18]
EIF4EBP1	TTKGEBL	Strong	Biomarker	[19]
GRIN2C	TT1M8OW	Strong	Biomarker	[20]
HTR2C	TTWJBZ5	Strong	Genetic Variation	[21]
RASA1	TTPNZ1F	Strong	Biomarker	[22]
RPS6KB1	TTG0U4H	Strong	Biomarker	[23]
GRM5	TTHS256	Definitive	Biomarker	[24]
IL21R	TTZO9B0	Definitive	Altered Expression	[25]
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⏷ Show the Full List of 23 DTT(s)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
UBASH3B	DE10BJ5	moderate	Genetic Variation	[26]
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This Disease Is Related to 53 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CD8A	OTDWQJXK	Limited	Biomarker	[27]
ELOC	OT0XHHWP	Limited	Genetic Variation	[28]
GRHL3	OT1V4ZEH	Limited	Biomarker	[29]
HEXD	OTTMQKLM	Limited	Biomarker	[30]
ING2	OT6H0EWF	Limited	Biomarker	[27]
INHA	OT7HWCO3	Limited	Biomarker	[31]
MYO1B	OTGZUJ0I	Limited	Biomarker	[32]
NEUROG2	OTAEMIGT	Limited	Altered Expression	[33]
OPN1MW	OTPJ7LX4	Limited	Biomarker	[34]
PEX13	OTXUAYEW	Limited	Genetic Variation	[35]
PHLPP1	OTIFXW8D	Limited	Biomarker	[36]
PIK3C3	OTLUM9L7	Limited	Altered Expression	[37]
PRRX1	OTTZK5G8	Limited	Biomarker	[38]
RHEB	OTFLTSEC	Limited	Biomarker	[39]
RPGRIP1L	OT6Z069I	Limited	Biomarker	[40]
SHOX	OTE0YZJO	Limited	Biomarker	[41]
SPINT1	OT1CLR5L	Limited	Biomarker	[42]
TBC1D7	OT1ALJ63	Limited	Biomarker	[43]
TRIM31	OT7VW6RP	Limited	Biomarker	[44]
BEX2	OT4G5SIC	moderate	Biomarker	[45]
BEX3	OTW1V1L5	moderate	Biomarker	[46]
CANX	OTYP1F6J	moderate	Biomarker	[47]
CASK	OT8EF7ZF	moderate	Biomarker	[48]
CCDC8	OTO295IH	moderate	Biomarker	[47]
CCL24	OT9LGHV0	moderate	Altered Expression	[49]
DEPDC5	OTE70JLY	moderate	Biomarker	[50]
FUZ	OTC427QQ	moderate	Genetic Variation	[51]
GCHFR	OTEOT8GI	moderate	Genetic Variation	[52]
MARCHF10	OTAYGHDM	moderate	Biomarker	[53]
MPP2	OTPH8CZY	moderate	Biomarker	[54]
PITX1	OTA0UN4C	moderate	Genetic Variation	[55]
PLCD1	OT6WFVXZ	moderate	Altered Expression	[16]
PPP1R15A	OTYG179K	moderate	Genetic Variation	[56]
RALGAPB	OTY8CGA3	moderate	Biomarker	[57]
RAP1GAP	OTC31ONQ	moderate	Genetic Variation	[58]
RBBP4	OTG3BT3M	moderate	Altered Expression	[59]
RPTOR	OT4TQZ9F	moderate	Posttranslational Modification	[60]
TCOF1	OT4BOYTM	moderate	Biomarker	[61]
AMELX	OTIN26MM	Strong	Biomarker	[62]
BCL2L11	OTNQQWFJ	Strong	Biomarker	[63]
DCX	OTISR7K3	Strong	Biomarker	[64]
FLCN	OTVM78XM	Strong	Biomarker	[65]
FMR1	OTWEV0T5	Strong	Altered Expression	[66]
GLRX3	OTUPAU1N	Strong	Altered Expression	[67]
KIF1A	OT3JVEGV	Strong	Genetic Variation	[68]
PKD1	OT5ALRZ5	Strong	Genetic Variation	[69]
PTPN4	OT6SXU5Y	Strong	Biomarker	[70]
RABGEF1	OTWC3Z3R	Strong	Altered Expression	[58]
RAP1A	OT5RH6TI	Strong	Altered Expression	[58]
RPS6	OTT4D1LN	Strong	Altered Expression	[71]
TERF2IP	OT3M5P3G	Strong	Altered Expression	[58]
TSC1	OTFF4YZ7	Definitive	Autosomal dominant	[72]
TSC2	OT47LWI9	Definitive	Autosomal dominant	[72]
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⏷ Show the Full List of 53 DOT(s)

References

1	Everolimus FDA Label
2	Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
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33	Biallelic Mutations in TSC2 Lead to Abnormalities Associated with Cortical Tubers in Human iPSC-Derived Neurons.J Neurosci. 2019 Nov 20;39(47):9294-9305. doi: 10.1523/JNEUROSCI.0642-19.2019. Epub 2019 Oct 7.
34	Cannabidiol modulates phosphorylated rpS6 signalling in a zebrafish model of Tuberous Sclerosis Complex.Behav Brain Res. 2019 May 2;363:135-144. doi: 10.1016/j.bbr.2019.01.040. Epub 2019 Jan 23.
35	Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder.Pediatr Res. 2005 Aug;58(2):263-9. doi: 10.1203/01.PDR.0000169984.89199.69. Epub 2005 Jul 8.
36	The tuberous sclerosis complex subunit TBC1D7 is stabilized by Akt phosphorylation-mediated 14-3-3 binding.J Biol Chem. 2018 Oct 19;293(42):16142-16159. doi: 10.1074/jbc.RA118.003525. Epub 2018 Aug 24.
37	Vps34-mediated macropinocytosis in Tuberous Sclerosis Complex 2-deficient cells supports tumorigenesis.Sci Rep. 2018 Sep 21;8(1):14161. doi: 10.1038/s41598-018-32256-x.
38	Tsc1 ablation in Prx1 and Osterix lineages causes renal cystogenesis in mouse.Sci Rep. 2019 Jan 29;9(1):837. doi: 10.1038/s41598-018-37139-9.
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43	dTBC1D7 regulates systemic growth independently of TSC through insulin signaling.J Cell Biol. 2018 Feb 5;217(2):517-526. doi: 10.1083/jcb.201706027. Epub 2017 Nov 29.
44	TRIM31 is upregulated in hepatocellular carcinoma and promotes disease progression by inducing ubiquitination of TSC1-TSC2 complex.Oncogene. 2018 Jan 25;37(4):478-488. doi: 10.1038/onc.2017.349. Epub 2017 Oct 2.
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46	The TSC1 gene product hamartin interacts with NADE.Mol Cell Neurosci. 2007 May;35(1):100-8. doi: 10.1016/j.mcn.2007.02.007. Epub 2007 Feb 12.
47	Tumor-promoting phorbol esters and activated Ras inactivate the tuberous sclerosis tumor suppressor complex via p90 ribosomal S6 kinase.Proc Natl Acad Sci U S A. 2004 Sep 14;101(37):13489-94. doi: 10.1073/pnas.0405659101. Epub 2004 Sep 1.
48	Rheb activation disrupts spine synapse formation through accumulation of syntenin in tuberous sclerosis complex.Nat Commun. 2015 Apr 16;6:6842. doi: 10.1038/ncomms7842.
49	Inflammatory Characteristics of Monocytes from Pediatric Patients with Tuberous Sclerosis.Neuropediatrics. 2015 Oct;46(5):335-43. doi: 10.1055/s-0035-1562925. Epub 2015 Sep 10.
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63	Correction: miR-9-5p, miR-124-3p, and miR-132-3p regulate BCL2L11 in tuberous sclerosis complex angiomyolipoma.Lab Invest. 2019 Mar;99(3):443-444. doi: 10.1038/s41374-018-0131-7.
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65	Renal angiomyolipoma in Birt-Hogg-Dube syndrome: A case study supporting overlap with tuberous sclerosis complex.Am J Med Genet A. 2016 Dec;170(12):3323-3326. doi: 10.1002/ajmg.a.37952. Epub 2016 Sep 19.
66	Purkinje cells derived from TSC patients display hypoexcitability and synaptic deficits associated with reduced FMRP levels and reversed by rapamycin.Mol Psychiatry. 2018 Nov;23(11):2167-2183. doi: 10.1038/s41380-018-0018-4. Epub 2018 Feb 15.
67	Frenolicin B Targets Peroxiredoxin 1 and Glutaredoxin 3 to Trigger ROS/4E-BP1-Mediated Antitumor Effects. Cell Chem Biol. 2019 Mar 21;26(3):366-377.e12. doi: 10.1016/j.chembiol.2018.11.013. Epub 2019 Jan 17.
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71	Fibrous papule of the face, similar to tuberous sclerosis complex-associated angiofibroma, shows activation of the mammalian target of rapamycin pathway: evidence for a novel therapeutic strategy?.PLoS One. 2014 Feb 18;9(2):e89467. doi: 10.1371/journal.pone.0089467. eCollection 2014.
72	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.