MCID: PRM329
MIFTS: 39

Premature Aging

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Premature Aging

MalaCards integrated aliases for Premature Aging:

Name: Premature Aging 58
Syndrome with Premature-Aging 6

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

MESH via Orphanet 44 D019588
UMLS via Orphanet 72 C0231341
Orphanet 58 ORPHA79389

Summaries for Premature Aging

MalaCards based summary : Premature Aging, also known as syndrome with premature-aging, is related to werner syndrome and hutchinson-gilford progeria syndrome. An important gene associated with Premature Aging is PDGFRB (Platelet Derived Growth Factor Receptor Beta), and among its related pathways/superpathways are DNA Damage and Neurodegenerative Diseases. The drugs Fluorouracil and Triamcinolone have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and brain, and related phenotypes are cellular and adipose tissue

Wikipedia : 74 Progeroid syndromes (PS) are a group of rare genetic disorders which mimic physiological aging, making... more...

Related Diseases for Premature Aging

Diseases related to Premature Aging via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 258)
# Related Disease Score Top Affiliating Genes
1 werner syndrome 32.8 WRN LMNA
2 hutchinson-gilford progeria syndrome 31.2 WRN SOD2 LMNA
3 progeroid syndrome 29.5 WRN LMNA
4 aging 29.0 WRN TP63 SOD2 PDGFRB LMNA
5 skin atrophy 29.0 WRN LMNA
6 atypical werner syndrome 29.0 WRN LMNA
7 senile cataract 28.4 WRN LMNA
8 premature aging syndrome, penttinen type 12.8
9 premature aging syndrome, okamoto type 12.6
10 laminopathy with premature aging 12.3
11 short stature, hearing loss, retinitis pigmentosa, and distinctive facies 12.1
12 branchiooculofacial syndrome 12.0
13 cockayne syndrome 11.6
14 acrogeria, gottron type 11.4
15 ogden syndrome 11.4
16 rothmund-thomson syndrome, type 2 11.3
17 trichothiodystrophy 1, photosensitive 11.3
18 ataxia-telangiectasia 11.3
19 dyskeratosis congenita 11.3
20 mandibuloacral dysplasia with type a lipodystrophy 11.3
21 progeroid short stature with pigmented nevi 11.3
22 cockayne syndrome a 11.3
23 nestor-guillermo progeria syndrome 11.3
24 cutis laxa, autosomal dominant 1 11.1
25 cutis laxa, autosomal recessive, type ia 11.1
26 gapo syndrome 11.1
27 geroderma osteodysplasticum 11.1
28 cerebroretinal microangiopathy with calcifications and cysts 2 11.1
29 autosomal recessive cutis laxa type iii 11.1
30 progeroid syndrome petty type 11.1
31 cockayne syndrome b 10.9
32 williams-beuren syndrome 10.9
33 cerebrooculofacioskeletal syndrome 1 10.9
34 cutis laxa, autosomal recessive, type iiia 10.9
35 cutis laxa, autosomal recessive, type iia 10.9
36 short syndrome 10.9
37 fontaine progeroid syndrome 10.9
38 cutis laxa, autosomal recessive, type ic 10.9
39 cutis laxa, autosomal dominant 2 10.9
40 cutis laxa, autosomal recessive, type ib 10.9
41 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.9
42 cutis laxa, autosomal dominant 3 10.9
43 cockayne syndrome type iii 10.9
44 cataract 10.2
45 end stage renal failure 10.1
46 alopecia 10.1
47 xeroderma pigmentosum, variant type 10.1
48 kidney disease 10.1
49 chronic kidney disease 10.1
50 ataxia and polyneuropathy, adult-onset 10.0

Graphical network of the top 20 diseases related to Premature Aging:



Diseases related to Premature Aging

Symptoms & Phenotypes for Premature Aging

MGI Mouse Phenotypes related to Premature Aging:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.97 LMNA NR2C2 PDGFRB SOD2 TP63 WRN
2 adipose tissue MP:0005375 9.91 LMNA NR2C2 PDGFRB SOD2 WRN
3 craniofacial MP:0005382 9.88 LMNA NR2C2 PDGFRB TP63 WRN
4 growth/size/body region MP:0005378 9.88 LMNA NR2C2 PDGFRB SOD2 TP63 WRN
5 immune system MP:0005387 9.85 LMNA NR2C2 PDGFRB SOD2 TP63 WRN
6 endocrine/exocrine gland MP:0005379 9.83 LMNA NR2C2 PDGFRB TP63 WRN
7 integument MP:0010771 9.8 LMNA NR2C2 PDGFRB SOD2 TP63 WRN
8 digestive/alimentary MP:0005381 9.76 LMNA PDGFRB TP63 WRN
9 limbs/digits/tail MP:0005371 9.56 LMNA PDGFRB TP63 WRN
10 renal/urinary system MP:0005367 9.46 LMNA PDGFRB SOD2 TP63
11 reproductive system MP:0005389 9.43 LMNA NR2C2 PDGFRB SOD2 TP63 WRN
12 vision/eye MP:0005391 9.02 LMNA PDGFRB SOD2 TP63 WRN

Drugs & Therapeutics for Premature Aging

Drugs for Premature Aging (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 64)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluorouracil Approved Phase 4 51-21-8 3385
2
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
3
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
4
Polyestradiol phosphate Approved Phase 4 28014-46-2
5 Dermatologic Agents Phase 4
6 Immunologic Factors Phase 4
7 Immunosuppressive Agents Phase 4
8 Antimetabolites Phase 4
9 Tin Fluorides Phase 4
10 Triamcinolone diacetate Phase 4
11 Triamcinolone hexacetonide Phase 4
12 triamcinolone acetonide Phase 4
13 Estrogens Phase 4
14 Estradiol 17 beta-cypionate Phase 4
15 Contraceptive Agents Phase 4
16 Hormone Antagonists Phase 4
17 Estradiol 3-benzoate Phase 4
18 Hormones Phase 4
19 Anti-Retroviral Agents Phase 3
20 Antiviral Agents Phase 3
21 Integrase Inhibitors Phase 3
22 Anti-Infective Agents Phase 3
23 HIV Integrase Inhibitors Phase 3
24 Anti-HIV Agents Phase 3
25 Raltegravir Potassium Phase 3
26
Pravastatin Approved Phase 2 81093-37-0 54687
27
Zoledronic Acid Approved Phase 2 118072-93-8 68740
28
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
29
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
30
Lonafarnib Investigational Phase 2 193275-84-2 148195
31 Hypolipidemic Agents Phase 2
32 Anticholesteremic Agents Phase 2
33 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
34 Lipid Regulating Agents Phase 2
35 Pharmaceutical Solutions Phase 2
36 Anti-Bacterial Agents Phase 1, Phase 2
37 Antibiotics, Antitubercular Phase 1, Phase 2
38 Antifungal Agents Phase 1, Phase 2
39
Dasatinib Approved, Investigational 302962-49-8 3062316
40
Ethanol Approved 64-17-5 702
41
Valsartan Approved, Investigational 137862-53-4 60846
42
Angiotensin II Approved, Investigational 68521-88-0, 4474-91-3, 11128-99-7 172198
43
Inulin Approved, Investigational, Nutraceutical 9005-80-5 24763
44
Quercetin Experimental, Investigational 117-39-5 5280343
45 Anti-Inflammatory Agents
46 Sunscreening Agents
47 Radiation-Protective Agents
48 Omega 3 Fatty Acid
49 Sunflower
50 Antioxidants

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 CSP #562 - The VA Keratinocyte Carcinoma Chemoprevention Trial Completed NCT00847912 Phase 4 5-fluorouracil;Placebo, vehicle control
2 The Impact of HIV on Accelerated Aging in the Female Genital Tract: a Pilot Trial of Topical Estradiol to Improve the Vaginal Microbiome and Symptoms of Vaginal Atrophy in Menopausal Women With HIV Not yet recruiting NCT04079218 Phase 4 Estradiol Vaginal Insert
3 Randomized, Double-blind, Placebo-controlled Clinical Trial to Evaluate the Effect of Raltegravir Intensification (1.200 mg QD) on the Gut Microbiota of Chronically HIV-1 Infected Subject Over Time: THE RAGTIME Active, not recruiting NCT03029689 Phase 3 Raltegravir;Placebo;Current ART
4 A Double-Blind, Randomized, Placebo Controlled Study to Evaluate the Efficacy and Safety of DCB-AD1 in Patients With Mild to Moderate Alzheimer’s Disease Unknown status NCT00154635 Phase 2 DCB-AD1
5 A Phase II Pilot Study of Zoledronic Acid, Pravastatin, and Lonafarnib (SCH66336) for Patients With Hutchinson-Gilford Progeria Syndrome (HGPS) and Progeroid Laminopathies Completed NCT00879034 Phase 2 Lonafarnib;Zoledronic Acid;Pravastatin
6 An Open Label Dose Adjusted Phase II Trial of the Oral Farnesyltransferase Inhibitor (FTI) Lonafarnib (SCH66336) for Patients With Hutchinson-Gilford Progeria Syndrome (HGPS) and Progeroid Laminopathies Completed NCT00425607 Phase 2 Lonafarnib
7 Safety and Efficacy of Umbilical Cord Blood Transfusion in Patients With Hutchinson-Gilford Progeria Syndrome Enrolling by invitation NCT03871972 Phase 1, Phase 2 Umbilical Cord Blood Unit
8 Search for Fragility Indicators Among People Aged 50+ With Chronic HIV Infection Unknown status NCT02874118
9 Non-randomized Clinical Trial for Evaluation of the Dissector Assisted Malar Elevation in Videoendoscopic Rhytidoplasty. Unknown status NCT00925158
10 Histologic Response to UVA and UVB Exposure During the Use of Sunscreen With Anti-inflammatory and Anti-oxidant Properties - A Pilot Study Completed NCT01892150
11 Premature Aging and Type 2 Diabetes Mellitus: an Increased Risk of Cardiomyopathy? Completed NCT01536808
12 The Role of Inflammation and Aging in HIV-Associated Cardiovascular Risk Completed NCT01333644
13 The Syndemic of Stress and Aging in an HIV-infected Population Completed NCT02965469
14 Assessing Performance Status in Cancer Patients Using Cardiopulmonary Exercise Testing and Wearable Data Generation: A Prospective Observational Study Completed NCT02844400
15 Pathology of Helicases and Premature Aging: Study by Derivation of hiPS Completed NCT03898817
16 Assessment of Risk in Chronic Airways Disease Evaluation (ARCADE) Completed NCT01656421
17 Effectiveness of an Internet-based Mindfulness Program for Stress Management Completed NCT01595555
18 Assessing Physical Fitness in Cancer Patients With Cardiopulmonary Exercise Testing and Wearable Data Generation Completed NCT02786628
19 Clinical Investigations Into Hutchison-Gilford Progeria Syndrome Completed NCT00094393
20 Identification of a New Gene Involved in Hereditary Lipodystrophy - LIPOGENE Completed NCT02056912
21 Fish Oil for HIV-Related Inflamm-aging and Immune Senescence Completed NCT02102724
22 Data Collection for Identification of the Chronic Stress Presence in Healthy Adult Subjects Completed NCT02574871
23 Central Auditory Processing Deficits Associated With Blast Exposure Completed NCT01567020
24 Effects of Mindfulness Training on Chronic Inflammation in HIV-Infected Adults Completed NCT02626949
25 Evaluating the Effectiveness of Financial Incentives in Promoting Weight Loss Among Obese Individuals. Completed NCT00520611
26 Hematopoietic Stem Cell Transplant Survivors Study (HTSS Study) Recruiting NCT02652052 Quercetin;Dasatinib
27 Clinical Trial, Randomized and Controlled With Placebo to Evaluate the Addition to an Antiretroviral Treatment of a Probiotic, Only or in Conjunction of a Pre-biotical, in Adults Infected by Hiv-1 With a cd4 Record Less Than 500 Cells / mm3 Recruiting NCT03542786
28 Efficacy of Solarplast for Health and Oxidative Stress, A Randomized, Double-Blind, Placebo-Controlled Study Recruiting NCT04144777
29 A Longitudinal Assessment of Frailty in Young Adult Survivors of Childhood Cancer Recruiting NCT02256137
30 An Experimental Investigation Into the Impact of Socioeconomic Context on Biological Markers of Aging, Health and Mortality Active, not recruiting NCT03226548
31 Addressing Alcohol/HIV Consequences in Substance Dependence - Boston ARCH Cohort: The 4F Study Enrolling by invitation NCT03414411
32 Angiotensin Receptors and Age Related Mitochondrial Decline in HIV Patients Terminated NCT02606279 valsartan

Search NIH Clinical Center for Premature Aging

Genetic Tests for Premature Aging

Anatomical Context for Premature Aging

MalaCards organs/tissues related to Premature Aging:

40
Skin, Bone, Brain, Kidney, T Cells, Heart, Lung

Publications for Premature Aging

Articles related to Premature Aging:

(show top 50) (show all 2564)
# Title Authors PMID Year
1
DNA repair fidelity in stem cell maintenance, health, and disease. 61
30953688 2020
2
Granulins Regulate Aging Kinetics in the Adult Zebrafish Telencephalon. 61
32028681 2020
3
Accelerated aging in bipolar disorder: a comprehensive review of molecular findings and their clinical implications. 61
32018037 2020
4
Epigenetic Aging: More Than Just a Clock When It Comes to Cancer. 61
31694907 2020
5
p53 regulates its own expression by an intrinsic exoribonuclease activity through AU-rich elements. 61
32016559 2020
6
Structural Features of Nucleoprotein CST/Shelterin Complex Involved in the Telomere Maintenance and Its Association with Disease Mutations. 61
32033110 2020
7
Connecting cognition, cardiology, and chromosomes: Cognitive reappraisal impacts the relationship between heart rate variability and telomere length in CD8+CD28- cells. 61
31785500 2020
8
Neuropeptide Y Enhances Progerin Clearance and Ameliorates the Senescent Phenotype of Human Hutchinson-Gilford Progeria Syndrome Cells. 61
32012215 2020
9
Discovery of Lonafarnib-Like Compounds: Pharmacophore Modeling and Molecular Dynamics Studies. 61
32039312 2020
10
A high-fat diet reverses metabolic disorders and premature aging by modulating insulin and IGF1 signaling in SIRT6 knockout mice. 61
31967391 2020
11
Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study. 61
31808320 2020
12
Decreased ADAM17 expression in the lungs of α-Klotho reduced mouse. 61
31951006 2020
13
Introduction to the multi-author-review: emerging advances in the structural chemistry of DNA strand break repair. 61
31712993 2020
14
CRL4 Ubiquitin Pathway and DNA Damage Response. 61
31898231 2020
15
Rescue of premature aging defects in Cockayne syndrome stem cells by CRISPR/Cas9-mediated gene correction. 61
31037510 2020
16
Prematurely aging mitochondrial DNA mutator mice display subchondral osteopenia and chondrocyte hypertrophy without further osteoarthritis features. 61
31992827 2020
17
Role of sorting nexin PaATG24 in autophagy, aging and development of Podospora anserina. 61
32007577 2020
18
celsr1a is essential for tissue homeostasis and onset of aging phenotypes in the zebrafish. 61
31985398 2020
19
Hypoxia-Inducible Factor-1α: The Master Regulator of Endothelial Cell Senescence in Vascular Aging. 61
31941032 2020
20
Short-term NAD+ supplementation prevents hearing loss in mouse models of Cockayne syndrome. 61
31934345 2020
21
Transcription-coupled nucleotide excision repair is coordinated by ubiquitin and SUMO in response to ultraviolet irradiation. 61
31722399 2020
22
Protecting the Aging Genome. 61
31917080 2020
23
53BP1 Enforces Distinct Pre- and Post-resection Blocks on Homologous Recombination. 61
31653568 2020
24
Subjective Cognitive Decline Among Sexual and Gender Minorities: Results from a U.S. Population-Based Sample. 61
31796675 2020
25
Lack of Differences in Inflammation and T Cell-Mediated Function between Young and Older Women with Obesity. 61
31963377 2020
26
A chromatin scaffold for DNA damage recognition: how histone methyltransferases prime nucleosomes for repair of ultraviolet light-induced lesions. 61
31930303 2020
27
Good long-term renal graft survival and low incidence of cardiac pathology in adults after short dialysis period and renal transplantation in early childhood - a cohort study. 61
31505063 2020
28
pH-Dependent Aggregation in Intrinsically Disordered Proteins Is Determined by Charge and Lipophilicity. 61
31936201 2020
29
Collagens and elastin genetic variations and their potential role in aging-related diseases and longevity in humans. 61
31740390 2020
30
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome. 61
31985013 2020
31
Lysophosphatidic acid receptor LPA3 prevents oxidative stress and cellular senescence in Hutchinson-Gilford progeria syndrome. 61
31714004 2020
32
Cx3cr1-deficient microglia exhibit a premature aging transcriptome. 61
31792059 2019
33
Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet-derived growth factor receptor-beta. 61
31710779 2019
34
Clinical associations with telomere length in chronic spinal cord injury. 61
31383950 2019
35
Altered muscle electrical tissue properties in a mouse model of premature aging. 61
31531861 2019
36
Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype. 61
31792352 2019
37
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders. 61
31829210 2019
38
Circulating angiopoietin-like protein 2 levels and mortality risk in patients receiving maintenance hemodialysis: a prospective cohort study. 61
31840173 2019
39
Voluntary exercise normalizes the proteomic landscape in muscle and brain and improves the phenotype of progeroid mice. 61
31489782 2019
40
[Premature immune senescence and chronic kidney disease: Update and perspectives]. 61
31848067 2019
41
Shortened telomere length is associated with unfair treatment attributed to race in African Americans living in Tallahassee, Florida. 61
31867825 2019
42
Neuroinflammation & pre-mature aging in the context of chronic HIV infection and drug abuse: Role of dysregulated autophagy. 61
31521638 2019
43
The conserved histone chaperone LIN-53 is required for normal lifespan and maintenance of muscle integrity in Caenorhabditis elegans. 61
31397537 2019
44
Diet, physical activity and telomere length in adults. 61
31657606 2019
45
The decreased SIRT1 level may account for the lipid profile in chronic kidney disease. 61
31637223 2019
46
Vascular smooth muscle cell loss underpins the accelerated atherosclerosis in Hutchinson-Gilford progeria syndrome. 61
30900948 2019
47
Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines. 61
31856865 2019
48
Lamin A/C promotes DNA base excision repair. 61
31647095 2019
49
Reduced skeletal muscle expression of mitochondrial-derived peptides humanin and MOTS-C and Nrf2 in chronic kidney disease. 61
31432706 2019
50
Spectral domain optical coherence tomography findings in myotonic dystrophy. 61
32005494 2019

Variations for Premature Aging

ClinVar genetic disease variations for Premature Aging:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 VIM NM_003380.5(VIM):c.1160T>C (p.Leu387Pro)SNV Likely pathogenic 692107 10:17277319-17277319 10:17235320-17235320

Expression for Premature Aging

Search GEO for disease gene expression data for Premature Aging.

Pathways for Premature Aging

Pathways related to Premature Aging according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.27 WRN TP63 LMNA
2
Show member pathways
10.62 SOD2 LMNA

GO Terms for Premature Aging

Cellular components related to Premature Aging according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromosome, telomeric region GO:0000781 8.62 WRN STN1

Biological processes related to Premature Aging according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homotetramerization GO:0051289 9.4 TP63 SOD2
2 double-strand break repair via homologous recombination GO:0000724 9.37 WRN STN1
3 aging GO:0007568 9.33 WRN TP63 PDGFRB
4 telomere maintenance GO:0000723 9.32 WRN STN1
5 cell aging GO:0007569 9.26 WRN TP63
6 multicellular organism aging GO:0010259 8.96 WRN TP63
7 replicative cell aging GO:0001302 8.62 WRN TP63

Molecular functions related to Premature Aging according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 manganese ion binding GO:0030145 8.62 WRN SOD2

Sources for Premature Aging

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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