MCID: PRM329
MIFTS: 36

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 45 D019588
UMLS via Orphanet 71 C0231341
Orphanet 58 ORPHA79389

Summaries for Premature Aging

MalaCards based summary : Premature Aging, also known as syndrome with premature-aging, is related to hutchinson-gilford progeria syndrome and aging. An important gene associated with Premature Aging is VIM (Vimentin), and among its related pathways/superpathways are MicroRNAs in cancer and DNA Damage. The drugs Lidocaine and abobotulinumtoxinA have been mentioned in the context of this disorder. Affiliated tissues include endothelial, t cells and skeletal muscle, and related phenotypes are behavior/neurological and cellular

Wikipedia : 73 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 253)
# Related Disease Score Top Affiliating Genes
1 hutchinson-gilford progeria syndrome 31.6 SOD2 LMNA
2 aging 29.6 VIM TP63 SOD2 PDGFRB NR2C2 LMNA
3 skin disease 29.0 VIM TP63 LMNA
4 premature aging syndrome, penttinen type 11.8
5 werner syndrome 11.6
6 branchiooculofacial syndrome 11.5
7 short stature, hearing loss, retinitis pigmentosa, and distinctive facies 11.5
8 premature aging syndrome, okamoto type 11.4
9 cockayne syndrome 11.4
10 acrogeria, gottron type 11.2
11 gapo syndrome 11.2
12 cerebroretinal microangiopathy with calcifications and cysts 2 11.2
13 ogden syndrome 11.2
14 laminopathy with premature aging 11.2
15 rothmund-thomson syndrome, type 2 11.1
16 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 11.1
17 trichothiodystrophy 11.1
18 progeroid short stature with pigmented nevi 11.1
19 ataxia-telangiectasia 11.0
20 cockayne syndrome a 11.0
21 mandibuloacral dysplasia with type a lipodystrophy 11.0
22 short syndrome 11.0
23 fontaine progeroid syndrome 11.0
24 cockayne syndrome b 11.0
25 williams-beuren syndrome 11.0
26 cerebrooculofacioskeletal syndrome 1 11.0
27 cutis laxa, autosomal recessive, type iiia 11.0
28 cutis laxa, autosomal recessive, type iia 11.0
29 hallermann-streiff syndrome 11.0
30 saul-wilson syndrome 11.0
31 autosomal recessive cutis laxa type iii 11.0
32 cockayne syndrome type iii 11.0
33 progeroid syndrome petty type 11.0
34 xeroderma pigmentosum, variant type 10.3
35 progeroid syndrome 10.3
36 cataract 10.2
37 end stage renal disease 10.2
38 alopecia 10.2
39 alcohol dependence 10.2
40 hypogonadism 10.1
41 kidney disease 10.1
42 muscular atrophy 10.1
43 down syndrome 10.1
44 bloom syndrome 10.1
45 restrictive dermopathy, lethal 10.1
46 uremia 10.1
47 chronic kidney disease 10.1
48 bladder leiomyoma 10.1 VIM PDGFRB
49 infantile myofibromatosis 10.0 VIM PDGFRB
50 type 2 diabetes mellitus 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:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.04 BNC1 LMNA NR2C2 PDGFRB SOD2 TP63
2 cellular MP:0005384 9.95 LMNA NR2C2 PDGFRB SOD2 TP63 VIM
3 homeostasis/metabolism MP:0005376 9.91 BNC1 LMNA NR2C2 PDGFRB SOD2 TP63
4 hematopoietic system MP:0005397 9.88 BNC1 LMNA NR2C2 PDGFRB SOD2 VIM
5 immune system MP:0005387 9.87 BNC1 LMNA NR2C2 PDGFRB SOD2 TP63
6 endocrine/exocrine gland MP:0005379 9.83 BNC1 LMNA NR2C2 PDGFRB TP63
7 adipose tissue MP:0005375 9.81 LMNA NR2C2 PDGFRB SOD2
8 craniofacial MP:0005382 9.76 LMNA NR2C2 PDGFRB TP63
9 integument MP:0010771 9.73 BNC1 LMNA NR2C2 PDGFRB SOD2 TP63
10 muscle MP:0005369 9.55 LMNA PDGFRB SOD2 TP63 VIM
11 reproductive system MP:0005389 9.5 BNC1 LMNA NR2C2 PDGFRB SOD2 TP63
12 vision/eye MP:0005391 9.17 BNC1 LMNA NR2C2 PDGFRB SOD2 TP63

Drugs & Therapeutics for Premature Aging

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2 abobotulinumtoxinA Phase 4
3 Botulinum Toxins, Type A Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prospective, Multi-site Study to Evaluate Subject Satisfaction With Facial Appearance Overall and the Aesthetic and Psychosocial Impact of Combined Facial Treatment Not yet recruiting NCT04609020 Phase 4 BOTOX
2 Pathology of Helicases and Premature Aging: Study by Derivation of hiPS Completed NCT03898817
3 Premature Aging and Type 2 Diabetes Mellitus: an Increased Risk of Cardiomyopathy? Completed NCT01536808
4 Neural Signatures of Processing the Temporal Features of Auditory Events: From Preterm Infancy to Adulthood Not yet recruiting NCT04270734

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
Endothelial, T Cells, Skeletal Muscle, Smooth Muscle, Skin, Brain, Bone Marrow

Publications for Premature Aging

Articles related to Premature Aging:

(show top 50) (show all 2805)
# Title Authors PMID Year
1
Topical delivery of l-ascorbic acid spanlastics for stability enhancement and treatment of UVB induced damaged skin. 61
33620008 2021
2
Adults Born Preterm: Long-Term Health Risks of Former Very Low Birth Weight Infants. 61
33734986 2021
3
Metabolic syndrome and the aging retina. 61
33630786 2021
4
The decreased exclusion of nuclear eccDNA: From molecular and subcellular levels to human aging and age-related diseases. 61
33610814 2021
5
Arterial stiffness and cardiac dysfunction in Hutchinson-Gilford Progeria Syndrome corrected by inhibition of lysyl oxidase. 61
33687998 2021
6
Neuronal and glial region dependent changes in female mice from a model of premature aging. 61
33388380 2021
7
Exposure of S. cerevisiae to pulsed magnetic field during chronological aging could induce genomic DNA damage. 61
33797308 2021
8
GTPases, genome, actin: A hidden story in DNA damage response and repair mechanisms. 61
33618126 2021
9
Xeroderma Pigmentosum: A Model for Human Premature Aging. 61
33436302 2021
10
Skin Abnormalities in Disorders with DNA Repair Defects, Premature Aging, and Mitochondrial Dysfunction. 61
33353663 2021
11
Prenatal Hypoxia Induces Premature Aging Accompanied by Impaired Function of the Glutamatergic System in Rat Hippocampus. 61
33389385 2021
12
Fluorescence microscopy methods for examining telomeres during cell aging. 61
33744488 2021
13
The relationship of CCL4, BCL2A1, and NFKBIA genes with premature aging in women of Yin deficiency constitution. 61
33766622 2021
14
Intellectual Disability, Employment and Aging: Intervention Measures. 61
33799429 2021
15
Evolving clinical manifestations of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: From infancy to adulthood in a 31-year-old woman. 61
33369179 2021
16
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys). 61
33683022 2021
17
Current and emerging roles of Cockayne syndrome group B (CSB) protein. 61
33590097 2021
18
The emerging role of Cockayne group A and B proteins in ubiquitin/proteasome-directed protein degradation. 61
33727156 2021
19
Review of Wearable and Portable Sensors for Monitoring Personal Solar UV Exposure. 61
33432511 2021
20
Klotho-Dependent Role of 1,25(OH)2D3 in the Brain. 61
33784444 2021
21
Breaking the paradigm: early insights from mammalian DNA breakomes. 61
33792193 2021
22
Identification of a unique epigenetic profile in women with diminished ovarian reserve. 61
33272626 2021
23
"I Think There Should Be Photos": Female Indoor Tanners' Perceptions of Health Warning Labels for Tanning Beds. 61
33650448 2021
24
Medical vulnerability of individuals with Down syndrome to severe COVID-19-data from the Trisomy 21 Research Society and the UK ISARIC4C survey. 61
33644721 2021
25
NAD+ supplementation prevents STING-induced senescence in ataxia telangiectasia by improving mitophagy. 61
33734555 2021
26
p38α plays differential roles in hematopoietic stem cell activity dependent on aging contexts. 61
33745970 2021
27
Systematic screening identifies therapeutic antisense oligonucleotides for Hutchinson-Gilford progeria syndrome. 61
33707772 2021
28
Self-assembly of multi-component mitochondrial nucleoids via phase separation. 61
33619770 2021
29
The progeria research foundation 10th international scientific workshop; researching possibilities, ExTENding lives - webinar version scientific summary. 61
33735109 2021
30
Avocado oil (Persea americana) protects SH-SY5Y cells against cytotoxicity triggered by cortisol by the modulation of BDNF, oxidative stress, and apoptosis molecules. 61
33480081 2021
31
The circadian clock: a central mediator of cartilage maintenance and osteoarthritis development? 61
33630038 2021
32
The age-dependent decline of the extracellular thiol-disulfide balance and its role in SARS-CoV-2 infection. 61
33662873 2021
33
Chronic Pain and Premature Aging - The Moderating Role of Physical Exercise. 61
32798763 2021
34
Splicing alterations in healthy aging and disease. 61
33565261 2021
35
A Non-stop identity complex (NIC) supervises enterocyte identity and protects from premature aging. 61
33629655 2021
36
Can Be miR-126-3p a Biomarker of Premature Aging? An Ex Vivo and In Vitro Study in Fabry Disease. 61
33572275 2021
37
Mtor inhibition by INK128 extends functions of the ovary reconstituted from germline stem cells in aging and premature aging mice. 61
33448083 2021
38
DUOX2 participates in skin aging induced by UVB in HSF2 cells by activating NF-κB signaling. 61
33456524 2021
39
HIV-1 Latency and Viral Reservoirs: Existing Reversal Approaches and Potential Technologies, Targets, and Pathways Involved in HIV Latency Studies. 61
33672138 2021
40
Telomere length is associated with HIV infection, methamphetamine use, inflammation, and comorbid disease risk. 61
33621803 2021
41
Effect of Cartridge Storage Time and Ambient Laboratory Conditions on the Stability of Mechanical Properties of Bis-Acryl Interim Resin Materials. 61
33533059 2021
42
A Slc25a46 Mouse Model Simulating Age-Associated Motor Deficit, Redox Imbalance, and Mitochondria Dysfunction. 61
33277645 2021
43
Signal Transducer and Activator of Transcription 3 (STAT3) Suppresses STAT1/Interferon Signaling Pathway and Inflammation in Senescent Preadipocytes. 61
33672392 2021
44
Mapping the susceptibility of UNESCO World Cultural Heritage sites in Europe to ambient (outdoor) air pollution. 61
33254875 2021
45
Statins as a Therapeutic Approach for the Treatment of Pseudoxanthoma Elasticum Patients: Evaluation of the Spectrum Efficacy of Atorvastatin In Vitro. 61
33669724 2021
46
The year's new drugs and biologics 2020. 61
33656016 2021
47
Barrier-to-autointegration-factor (Banf1) modulates DNA double-strand break repair pathway choice via regulation of DNA-dependent kinase (DNA-PK) activity. 61
33660778 2021
48
Lymphopenia in primary Sjögren's syndrome is associated with premature aging of naïve CD4+ T cells. 61
32227243 2021
49
New Drugs for Rare Disorders. 61
33497125 2021
50
Werner Syndrome Protein Expression in Breast Cancer. 61
32919863 2021

Variations for Premature Aging

ClinVar genetic disease variations for Premature Aging:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VIM NM_003380.5(VIM):c.1160T>C (p.Leu387Pro) SNV Likely pathogenic 692107 rs1588736025 GRCh37: 10:17277319-17277319
GRCh38: 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 11.82 VIM TP63 PDGFRB
2 11.6 VIM TP63 LMNA
3
Show member pathways
10.92 SOD2 LMNA
4 10.92 VIM TP63 PDGFRB

GO Terms for Premature Aging

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

# Name GO ID Score Top Affiliating Genes
1 spermatogenesis GO:0007283 9.43 TP63 NR2C2 BNC1
2 response to hydrogen peroxide GO:0042542 9.16 SOD2 PDGFRB
3 positive regulation of collagen biosynthetic process GO:0032967 8.96 VIM PDGFRB
4 aging GO:0007568 8.8 TP63 SOD2 PDGFRB

Sources for Premature Aging

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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