MCID: PRG139
MIFTS: 26

Progeroid Syndrome

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Progeroid Syndrome

MalaCards integrated aliases for Progeroid Syndrome:

Name: Progeroid Syndrome 58
Syndrome, Progeroid 39

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA139033

Summaries for Progeroid Syndrome

MalaCards based summary : Progeroid Syndrome, also known as syndrome, progeroid, is related to xfe progeroid syndrome and wiedemann-rautenstrauch syndrome. An important gene associated with Progeroid Syndrome is ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit), and among its related pathways/superpathways are DNA Damage and Nuclear Envelope Reassembly. Affiliated tissues include bone, skin and liver.

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

Related Diseases for Progeroid Syndrome

Diseases in the Progeroid Syndrome family:

Xfe Progeroid Syndrome

Diseases related to Progeroid Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 136)
# Related Disease Score Top Affiliating Genes
1 xfe progeroid syndrome 34.0 WRN ERCC4
2 wiedemann-rautenstrauch syndrome 33.8 POLR3A LMNA
3 premature aging 32.5 WRN LMNA
4 atypical werner syndrome 32.4 WRN LMNA
5 hutchinson-gilford progeria syndrome 31.8 WRN LMNA BANF1
6 skin atrophy 29.8 WRN LMNA
7 emery-dreifuss muscular dystrophy 29.7 LMNA BANF1
8 emery-dreifuss muscular dystrophy 2, autosomal dominant 29.6 LMNA BANF1
9 ehlers-danlos syndrome 29.1 FBN1 DCN B4GALT7
10 fontaine progeroid syndrome 12.7
11 ehlers-danlos syndrome progeroid type 12.5
12 progeroid syndrome petty type 12.4
13 generalized lipodystrophy-associated progeroid syndrome 12.3
14 genetic progeroid syndrome 12.3
15 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 12.1
16 marfanoid-progeroid-lipodystrophy syndrome 12.0
17 nestor-guillermo progeria syndrome 11.8
18 cutis laxa, autosomal recessive, type iiia 11.7
19 autosomal recessive cutis laxa type iii 11.7
20 werner syndrome 11.7
21 ehlers-danlos syndrome, spondylodysplastic type, 2 11.5
22 premature aging syndrome, penttinen type 11.1
23 autosomal dominant deafness-onychodystrophy syndrome 11.1
24 restrictive dermopathy, lethal 10.3
25 alopecia 10.3
26 xeroderma pigmentosum, variant type 10.3
27 cockayne syndrome 10.3
28 cataract 10.3
29 aging 10.2
30 acroosteolysis 10.2
31 osteoporosis 10.2
32 dowling-degos disease 1 10.2
33 mandibuloacral dysplasia with type a lipodystrophy 10.2
34 bloom syndrome 10.2
35 adrenomyodystrophy 10.2
36 ataxia and polyneuropathy, adult-onset 10.2
37 bone mineral density quantitative trait locus 8 10.2
38 bone mineral density quantitative trait locus 15 10.2
39 microcephaly 10.2
40 telangiectasis 10.2
41 lipid metabolism disorder 10.2
42 laminopathy 10.2
43 teeth present at birth 10.1
44 ataxia-telangiectasia 10.1
45 rothmund-thomson syndrome, type 2 10.1
46 trichothiodystrophy 1, photosensitive 10.1
47 autosomal recessive disease 10.1
48 scoliosis 10.1
49 umbilical hernia 10.1
50 entropion 10.1

Graphical network of the top 20 diseases related to Progeroid Syndrome:



Diseases related to Progeroid Syndrome

Symptoms & Phenotypes for Progeroid Syndrome

Drugs & Therapeutics for Progeroid Syndrome

Search Clinical Trials , NIH Clinical Center for Progeroid Syndrome

Genetic Tests for Progeroid Syndrome

Anatomical Context for Progeroid Syndrome

MalaCards organs/tissues related to Progeroid Syndrome:

40
Bone, Skin, Liver, Heart, Bone Marrow, Brain, Kidney

Publications for Progeroid Syndrome

Articles related to Progeroid Syndrome:

(show top 50) (show all 224)
# Title Authors PMID Year
1
Inactivating Mutations in Exonuclease and Polymerase Domains in DNA Polymerase Delta Alter Sensitivities to Inhibitors of dNTP Synthesis. 61
31750734 2020
2
Recurrent Femoral Fractures in a Boy with an Atypical Progeroid Syndrome: A Case Report. 61
31807803 2019
3
ATP-based therapy prevents vascular calcification and extends longevity in a mouse model of Hutchinson-Gilford progeria syndrome. 61
31690656 2019
4
Diabetes mellitus coexisted with progeria: a case report of atypical Werner syndrome with novel LMNA mutations and literature review. 61
31270292 2019
5
Diffuse, mottled hyperpigmentation and mutations in LMNA gene in a 5-year-old boy, his mother, and his grandmother: Atypical progeroid syndrome. 61
31378009 2019
6
A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL. 61
31695177 2019
7
A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up. 61
31775791 2019
8
A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles. 61
31708526 2019
9
Epigenetic signatures of Werner syndrome occur early in life and are distinct from normal epigenetic aging processes. 61
31259468 2019
10
The Shape of Mitochondrial Dysfunction in Down Syndrome. 61
30830726 2019
11
Accelerated bio-cognitive aging in Down syndrome: State of the art and possible deceleration strategies. 61
30768754 2019
12
Growing Old Too Fast: A Rare Case of Werner Syndrome. 61
31363425 2019
13
Special-needs patients in pediatric dentistry: Progeroid syndrome. A case of dental management and oral rehabilitation. 61
31214300 2019
14
Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome. 61
31998237 2019
15
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. 61
30450527 2018
16
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. 61
30414627 2018
17
A Transcriptome Study of Progeroid Neurocutaneous Syndrome Reveals POSTN As a New Element in Proline Metabolic Disorder. 61
30574417 2018
18
A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24. 61
30329211 2018
19
Fisetin is a senotherapeutic that extends health and lifespan. 61
30279143 2018
20
RECQ helicase disease and related progeroid syndromes: RECQ2018 meeting. 61
29752965 2018
21
A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation. 61
29267953 2018
22
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes. 61
29105242 2018
23
Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene. 61
29199204 2018
24
Modeling Alzheimer's disease in progeria mice. An age-related concept. 61
30319737 2018
25
The Continuum of Aging and Age-Related Diseases: Common Mechanisms but Different Rates. 61
29662881 2018
26
A De Novo POLD1 Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome. 61
30023403 2018
27
Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis. 61
29610677 2018
28
Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A. 61
29057985 2017
29
Dysfunction of the MDM2/p53 axis is linked to premature aging. 61
28846075 2017
30
Identification of HSP90 inhibitors as a novel class of senolytics. 61
28871086 2017
31
Recent Trends in WRN Gene Mutation Patterns in Individuals with Werner Syndrome. 61
28394436 2017
32
Uncommon cause of cirrhosis-A case of Werner syndrome with a novel WRN mutation. 61
28795391 2017
33
Werner syndrome: a model for sarcopenia due to accelerated aging. 61
28738022 2017
34
A novel splice-site mutation of WRN (c.IVS28+2T>C) identified in a consanguineous family with Werner Syndrome. 61
28440507 2017
35
Expansion of myeloid-derived suppressor cells with aging in the bone marrow of mice through a NF-κB-dependent mechanism. 61
28229533 2017
36
Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype. 61
28276523 2017
37
Retinal features in Mulvihill-Smith syndrome. 61
27268268 2017
38
Werner syndrome: Clinical features, pathogenesis and potential therapeutic interventions. 61
26993153 2017
39
Progeroid syndrome patients with ZMPSTE24 deficiency could benefit when treated with rapamycin and dimethylsulfoxide. 61
28050601 2017
40
Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A. 61
27612211 2016
41
Potential therapeutic effects of the MTOR inhibitors for preventing ageing and progeria-related disorders. 61
26952863 2016
42
SPRTN is a mammalian DNA-binding metalloprotease that resolves DNA-protein crosslinks. 61
27852435 2016
43
Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7. 61
27793082 2016
44
Absence of premature senescence in Werner's syndrome keratinocytes. 61
27492502 2016
45
A Case of Novel Lamin A/C Mutation Manifesting as Atypical Progeroid Syndrome and Cardiomyopathy. 61
27265359 2016
46
Increased susceptibility to oxidative stress- and ultraviolet A-induced apoptosis in fibroblasts in atypical progeroid syndrome/atypical Werner syndrome with LMNA mutation. 61
27539898 2016
47
Defective DNA repair increases susceptibility to senescence through extension of Chk1-mediated G2 checkpoint activation. 61
27507734 2016
48
The Werner syndrome RECQ helicase targets G4 DNA in human cells to modulate transcription. 61
26984941 2016
49
Oxidative Stress in Cancer-Prone Genetic Diseases in Pediatric Age: The Role of Mitochondrial Dysfunction. 61
27239251 2016
50
The effect of RO3201195 and a pyrazolyl ketone P38 MAPK inhibitor library on the proliferation of Werner syndrome cells. 61
26611938 2016

Variations for Progeroid Syndrome

Expression for Progeroid Syndrome

Search GEO for disease gene expression data for Progeroid Syndrome.

Pathways for Progeroid Syndrome

Pathways related to Progeroid Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.6 WRN LMNA ERCC4
2
Show member pathways
10.14 LMNA BANF1

GO Terms for Progeroid Syndrome

Cellular components related to Progeroid Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromosome, telomeric region GO:0000781 8.62 WRN ERCC4

Biological processes related to Progeroid Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 telomere maintenance GO:0000723 8.96 WRN ERCC4
2 mitotic nuclear envelope reassembly GO:0007084 8.62 LMNA BANF1

Molecular functions related to Progeroid Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 manganese ion binding GO:0030145 8.96 WRN B4GALT7
2 protein N-terminus binding GO:0047485 8.8 ERCC4 DCN BANF1

Sources for Progeroid Syndrome

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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