Details of Disease

Disease Name

Premature aging syndrome

premature aging; premature ageing

Definition

Changes in the organism associated with senescence, occurring at an accelerated rate.

Disease Hierarchy

DISH7H5I: Human disease

DIS51AGT: Premature aging syndrome

Disease Identifiers

MONDO ID

MONDO_0019303

MESH ID

D019588

UMLS CUI

C0231341

MedGen ID

65416

Orphanet ID

79389

SNOMED CT ID

399959003

General Information of Disease (ID: DIS51AGT)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
APP	TTE4KHA	Strong	Biomarker	[1]
ASPA	TT6TLZP	Strong	Genetic Variation	[2]
HSPA9	TTMTPG3	Strong	Biomarker	[3]
WRN	TT2H5WQ	Strong	Genetic Variation	[4]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP27A1	DEBS639	Strong	Altered Expression	[5]
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This Disease Is Related to 39 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ANGPTL2	OTB6JG41	Limited	Biomarker	[6]
BUB1B	OT8KME51	Limited	Biomarker	[7]
DKC1	OTX7DJR6	Limited	Genetic Variation	[8]
EMD	OTR8ZANE	Limited	Genetic Variation	[9]
ERCC8	OT0T4WKI	Limited	Genetic Variation	[10]
EXT1	OTRPALJK	Limited	Biomarker	[11]
ROBO3	OTPVG40S	Limited	Biomarker	[12]
A1CF	OTJBKFA1	Strong	Genetic Variation	[2]
APTX	OTPAS5G8	Strong	Biomarker	[13]
BANF1	OTP7Z38L	Strong	Genetic Variation	[14]
BLM	OTEJOAJX	Strong	Genetic Variation	[15]
CFDP1	OTXY7J96	Strong	Biomarker	[16]
CHMP1B	OTP715L8	Strong	Genetic Variation	[17]
CSH1	OT33HTRR	Strong	Genetic Variation	[10]
CSH2	OTW8JVAN	Strong	Genetic Variation	[10]
EIF4G2	OTEO98CR	Strong	Biomarker	[16]
ENOSF1	OT65D3ZK	Strong	Biomarker	[18]
ERCC3	OTVAW3P1	Strong	Genetic Variation	[19]
ERCC6	OT2QZKSF	Strong	Biomarker	[20]
EXOSC2	OTN6NVKL	Strong	Genetic Variation	[21]
H1-4	OTQ450A3	Strong	Biomarker	[22]
HTRA2	OTC7616F	Strong	Biomarker	[23]
KCNH4	OTHJ8WTU	Strong	Altered Expression	[24]
KCNH8	OT3I5FLB	Strong	Altered Expression	[24]
MYOD1	OTV2S79X	Strong	Biomarker	[25]
NCOR2	OTY917X0	Strong	Biomarker	[26]
NHP2	OTZK4FU5	Strong	Genetic Variation	[27]
PSMD2	OT6HZHN7	Strong	Biomarker	[16]
PYCR1	OTQHB52T	Strong	Genetic Variation	[28]
RBBP4	OTG3BT3M	Strong	Biomarker	[29]
ROPN1L	OTRWZJ68	Strong	Genetic Variation	[2]
SENP6	OT05LLF4	Strong	Genetic Variation	[30]
SMURF2	OT3TRVL7	Strong	Genetic Variation	[31]
SPNS1	OTSJ3BJ2	Strong	Biomarker	[32]
SPRTN	OT01D5CE	Strong	Biomarker	[33]
SRSF5	OTC5WP98	Strong	Altered Expression	[34]
TMEM201	OTZBZ4MC	Strong	Biomarker	[35]
TNMD	OTHLVA9G	Strong	Biomarker	[36]
TOP3A	OT3CKUI9	Strong	Biomarker	[37]
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⏷ Show the Full List of 39 DOT(s)

References

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2	Accumulation of deletions and point mutations in mitochondrial genome in degenerative diseases.Ann N Y Acad Sci. 1996 Jun 15;786:102-11. doi: 10.1111/j.1749-6632.1996.tb39055.x.
3	Functional significance of point mutations in stress chaperone mortalin and their relevance to Parkinson disease.J Biol Chem. 2015 Mar 27;290(13):8447-56. doi: 10.1074/jbc.M114.627463. Epub 2015 Feb 2.
4	Ectopic hTERT expression facilitates reprograming of fibroblasts derived from patients with Werner syndrome as a WS cellular model.Cell Death Dis. 2018 Sep 11;9(9):923. doi: 10.1038/s41419-018-0948-4.
5	Sterol 27-Hydroxylase Polymorphism Significantly Associates With Shorter Telomere, Higher Cardiovascular and Type-2 Diabetes Risk in Obese Subjects.Front Endocrinol (Lausanne). 2018 Jun 13;9:309. doi: 10.3389/fendo.2018.00309. eCollection 2018.
6	Circulating angiopoietin-like protein 2 levels and mortality risk in patients receiving maintenance hemodialysis: a prospective cohort study.Nephrol Dial Transplant. 2020 May 1;35(5):854-860. doi: 10.1093/ndt/gfz236.
7	BubR1 kinase: protection against aneuploidy and premature aging.Trends Mol Med. 2015 Jun;21(6):364-72. doi: 10.1016/j.molmed.2015.04.003. Epub 2015 May 8.
8	Dyskeratosis congenita mutations in dyskerin SUMOylation consensus sites lead to impaired telomerase RNA accumulation and telomere defects.Hum Mol Genet. 2013 Sep 1;22(17):3498-507. doi: 10.1093/hmg/ddt204. Epub 2013 May 8.
9	Primary laminopathy fibroblasts display altered genome organization and apoptosis.Aging Cell. 2007 Apr;6(2):139-53. doi: 10.1111/j.1474-9726.2007.00270.x. Epub 2007 Feb 5.
10	Cockayne syndrome protein A is a transcription factor of RNA polymerase I and stimulates ribosomal biogenesis and growth.Cell Cycle. 2014;13(13):2029-37. doi: 10.4161/cc.29018. Epub 2014 Apr 29.
11	Expression of Ext1, Ext2, and heparanase genes in brain of senescence-accelerated OXYS rats in early ontogenesis and during development of neurodegenerative changes.Biochemistry (Mosc). 2012 Jan;77(1):56-61. doi: 10.1134/S0006297912010063.
12	HGPS and related premature aging disorders: from genomic identification to the first therapeutic approaches.Mech Ageing Dev. 2008 Jul-Aug;129(7-8):449-59. doi: 10.1016/j.mad.2008.04.003. Epub 2008 Apr 12.
13	Expression of a pathogenic mutation of SOD1 sensitizes aprataxin-deficient cells and mice to oxidative stress and triggers hallmarks of premature ageing.Hum Mol Genet. 2015 Feb 1;24(3):828-40. doi: 10.1093/hmg/ddu500. Epub 2014 Sep 30.
14	Nstor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations.Am J Med Genet A. 2011 Nov;155A(11):2617-25. doi: 10.1002/ajmg.a.34249. Epub 2011 Sep 19.
15	Bloom's syndrome: Why not premature aging?: A comparison of the BLM and WRN helicases.Ageing Res Rev. 2017 Jan;33:36-51. doi: 10.1016/j.arr.2016.05.010. Epub 2016 May 26.
16	The Interplay of Cofactor Interactions and Post-translational Modifications in the Regulation of the AAA+ ATPase p97.Front Mol Biosci. 2017 Apr 13;4:21. doi: 10.3389/fmolb.2017.00021. eCollection 2017.
17	Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging.Mitochondrion. 2016 Jan;26:81-5. doi: 10.1016/j.mito.2015.12.006. Epub 2015 Dec 12.
18	RecQL4 helicase amplification is involved in human breast tumorigenesis.PLoS One. 2013 Jul 22;8(7):e69600. doi: 10.1371/journal.pone.0069600. Print 2013.
19	XPB and XPD helicases in TFIIH orchestrate DNA duplex opening and damage verification to coordinate repair with transcription and cell cycle via CAK kinase.DNA Repair (Amst). 2011 Jul 15;10(7):697-713. doi: 10.1016/j.dnarep.2011.04.028. Epub 2011 May 14.
20	A high-fat diet and NAD(+) activate Sirt1 to rescue premature aging in cockayne syndrome. Cell Metab. 2014 Nov 4;20(5):840-855. doi: 10.1016/j.cmet.2014.10.005. Epub 2014 Nov 4.
21	Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. J Med Genet. 2016 Jun;53(6):419-25. doi: 10.1136/jmedgenet-2015-103511. Epub 2016 Feb 3.
22	Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.Am J Hum Genet. 2019 Sep 5;105(3):493-508. doi: 10.1016/j.ajhg.2019.07.007. Epub 2019 Aug 22.
23	Omi/HtrA2 Participates in Age-Related Autophagic Deficiency in Rat Liver.Aging Dis. 2018 Dec 4;9(6):1031-1042. doi: 10.14336/AD.2018.0221. eCollection 2018 Dec.
24	Reduced phosphorylation of transcription factor Elk-1 in cultured fibroblasts of a patient with premature aging syndrome and insulin resistance.Exp Clin Endocrinol Diabetes. 2005 Feb;113(2):94-101. doi: 10.1055/s-2004-830554.
25	PUMILIO, but not RBMX, binding is required for regulation of genomic stability by noncoding RNA NORAD.Elife. 2019 Jul 25;8:e48625. doi: 10.7554/eLife.48625.
26	Nuclear receptor corepressor SMRT regulates mitochondrial oxidative metabolism and mediates aging-related metabolic deterioration.Cell Metab. 2010 Dec 1;12(6):643-53. doi: 10.1016/j.cmet.2010.11.007.
27	Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. Proc Natl Acad Sci U S A. 2008 Jun 10;105(23):8073-8. doi: 10.1073/pnas.0800042105. Epub 2008 Jun 3.
28	A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family.Am J Med Genet A. 2011 Jun;155A(6):1285-9. doi: 10.1002/ajmg.a.33963. Epub 2011 May 12.
29	The conserved histone chaperone LIN-53 is required for normal lifespan and maintenance of muscle integrity in Caenorhabditis elegans.Aging Cell. 2019 Dec;18(6):e13012. doi: 10.1111/acel.13012. Epub 2019 Aug 9.
30	Desumoylase SENP6 maintains osteochondroprogenitor homeostasis by suppressing the p53 pathway.Nat Commun. 2018 Jan 10;9(1):143. doi: 10.1038/s41467-017-02413-3.
31	Smurf2 regulates stability and the autophagic-lysosomal turnover of lamin A and its disease-associated form progerin.Aging Cell. 2018 Apr;17(2):e12732. doi: 10.1111/acel.12732. Epub 2018 Feb 5.
32	Autolysosome biogenesis and developmental senescence are regulated by both Spns1 and v-ATPase.Autophagy. 2017 Feb;13(2):386-403. doi: 10.1080/15548627.2016.1256934. Epub 2016 Nov 22.
33	SPRTN protease and checkpoint kinase 1 cross-activation loop safeguards DNA replication.Nat Commun. 2019 Jul 17;10(1):3142. doi: 10.1038/s41467-019-11095-y.
34	Enhanced SRSF5 Protein Expression Reinforces Lamin A mRNA Production in HeLa Cells and Fibroblasts of Progeria Patients.Hum Mutat. 2016 Mar;37(3):280-91. doi: 10.1002/humu.22945. Epub 2016 Jan 12.
35	Antioxidant modifications induced by the new metformin derivative HL156A regulate metabolic reprogramming in SAMP1/kl (-/-) mice.Aging (Albany NY). 2018 Sep 16;10(9):2338-2355. doi: 10.18632/aging.101549.
36	Tenomodulin is Required for Tendon Endurance Running and Collagen I Fibril Adaptation to Mechanical Load.EBioMedicine. 2017 Jun;20:240-254. doi: 10.1016/j.ebiom.2017.05.003. Epub 2017 May 5.
37	WRN helicase defective in the premature aging disorder Werner syndrome genetically interacts with topoisomerase 3 and restores the top3 slow growth phenotype of sgs1 top3.Aging (Albany NY). 2009 Feb 5;1(2):219-33. doi: 10.18632/aging.100020.