MCID: PRG139
MIFTS: 28

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 Initiation of Nuclear Envelope Reformation. Affiliated tissues include skin, bone and liver, and related phenotypes are craniofacial and renal/urinary system

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 139)
# Related Disease Score Top Affiliating Genes
1 xfe progeroid syndrome 34.2 WRN ERCC4
2 wiedemann-rautenstrauch syndrome 33.6 POLR3A LMNA
3 atypical werner syndrome 32.4 WRN LMNA
4 hutchinson-gilford progeria syndrome 31.6 WRN LMNA ERCC4 BANF1
5 skin atrophy 29.8 WRN LMNA
6 ehlers-danlos syndrome 29.5 FBN1 DCN B4GALT7
7 emery-dreifuss muscular dystrophy 2, autosomal dominant 29.4 LMNA BANF1
8 fanconi anemia, complementation group a 28.6 WRN MDM2 LMNA ERCC4
9 fontaine progeroid syndrome 12.7
10 ehlers-danlos syndrome progeroid type 12.4
11 progeroid syndrome petty type 12.4
12 generalized lipodystrophy-associated progeroid syndrome 12.3
13 genetic progeroid syndrome 12.3
14 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 12.1
15 marfanoid-progeroid-lipodystrophy syndrome 12.0
16 nestor-guillermo progeria syndrome 11.8
17 premature aging 11.7
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 11.6
22 premature aging syndrome, penttinen type 11.1
23 lessel-kubisch syndrome 11.1
24 autosomal dominant deafness-onychodystrophy syndrome 11.1
25 restrictive dermopathy, lethal 10.3
26 alopecia 10.3
27 xeroderma pigmentosum, variant type 10.3
28 cockayne syndrome 10.3
29 cataract 10.3
30 aging 10.2
31 acroosteolysis 10.2
32 osteoporosis 10.2
33 dowling-degos disease 1 10.2
34 mandibuloacral dysplasia with type a lipodystrophy 10.2
35 bloom syndrome 10.2
36 adrenomyodystrophy 10.2
37 ataxia and polyneuropathy, adult-onset 10.2
38 bone mineral density quantitative trait locus 8 10.2
39 bone mineral density quantitative trait locus 15 10.2
40 microcephaly 10.2
41 telangiectasis 10.2
42 lipid metabolism disorder 10.2
43 laminopathy 10.2
44 teeth present at birth 10.1
45 ataxia-telangiectasia 10.1
46 rothmund-thomson syndrome, type 2 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

MGI Mouse Phenotypes related to Progeroid Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.55 DCN FBN1 LMNA MDM2 WRN
2 renal/urinary system MP:0005367 9.35 DCN FBN1 LMNA MDM2 POLR3A
3 skeleton MP:0005390 9.1 DCN FBN1 LMNA MDM2 POLR3A WRN

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

Publications for Progeroid Syndrome

Articles related to Progeroid Syndrome:

(show top 50) (show all 231)
# Title Authors PMID Year
1
Fibrillin-1 and fibrillin-1-derived asprosin in adipose tissue function and metabolic disorders. 61
32279186 2020
2
Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome. 61
32555393 2020
3
Epigenetic deregulation of lamina-associated domains in Hutchinson-Gilford progeria syndrome. 61
32450911 2020
4
Is Gorlin-Chaudhry-Moss syndrome associated with aortopathy? 61
32355952 2020
5
Energy Regulation Mechanism and Therapeutic Potential of Asprosin. 61
32198197 2020
6
A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL. 61
31695177 2020
7
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review. 61
32340404 2020
8
Recurrent Femoral Fractures in a Boy with an Atypical Progeroid Syndrome: A Case Report. 61
31807803 2020
9
Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice. 61
32245113 2020
10
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 2020
11
Inactivating Mutations in Exonuclease and Polymerase Domains in DNA Polymerase Delta Alter Sensitivities to Inhibitors of dNTP Synthesis. 61
31750734 2020
12
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
13
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
14
ATP-based therapy prevents vascular calcification and extends longevity in a mouse model of Hutchinson-Gilford progeria syndrome. 61
31690656 2019
15
Diabetes mellitus coexisted with progeria: a case report of atypical Werner syndrome with novel LMNA mutations and literature review. 61
31270292 2019
16
Epigenetic signatures of Werner syndrome occur early in life and are distinct from normal epigenetic aging processes. 61
31259468 2019
17
The Shape of Mitochondrial Dysfunction in Down Syndrome. 61
30830726 2019
18
Accelerated bio-cognitive aging in Down syndrome: State of the art and possible deceleration strategies. 61
30768754 2019
19
Growing Old Too Fast: A Rare Case of Werner Syndrome. 61
31363425 2019
20
Special-needs patients in pediatric dentistry: Progeroid syndrome. A case of dental management and oral rehabilitation. 61
31214300 2019
21
Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome. 61
31998237 2019
22
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. 61
30414627 2018
23
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
24
A Transcriptome Study of Progeroid Neurocutaneous Syndrome Reveals POSTN As a New Element in Proline Metabolic Disorder. 61
30574417 2018
25
A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24. 61
30329211 2018
26
Fisetin is a senotherapeutic that extends health and lifespan. 61
30279143 2018
27
RECQ helicase disease and related progeroid syndromes: RECQ2018 meeting. 61
29752965 2018
28
A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation. 61
29267953 2018
29
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes. 61
29105242 2018
30
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
31
Modeling Alzheimer's disease in progeria mice. An age-related concept. 61
30319737 2018
32
The Continuum of Aging and Age-Related Diseases: Common Mechanisms but Different Rates. 61
29662881 2018
33
A De Novo POLD1 Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome. 61
30023403 2018
34
Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis. 61
29610677 2018
35
Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A. 61
29057985 2017
36
Dysfunction of the MDM2/p53 axis is linked to premature aging. 61
28846075 2017
37
Identification of HSP90 inhibitors as a novel class of senolytics. 61
28871086 2017
38
Recent Trends in WRN Gene Mutation Patterns in Individuals with Werner Syndrome. 61
28394436 2017
39
Uncommon cause of cirrhosis-A case of Werner syndrome with a novel WRN mutation. 61
28795391 2017
40
Werner syndrome: a model for sarcopenia due to accelerated aging. 61
28738022 2017
41
A novel splice-site mutation of WRN (c.IVS28+2T>C) identified in a consanguineous family with Werner Syndrome. 61
28440507 2017
42
Expansion of myeloid-derived suppressor cells with aging in the bone marrow of mice through a NF-κB-dependent mechanism. 61
28229533 2017
43
Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype. 61
28276523 2017
44
Retinal features in Mulvihill-Smith syndrome. 61
27268268 2017
45
Werner syndrome: Clinical features, pathogenesis and potential therapeutic interventions. 61
26993153 2017
46
Progeroid syndrome patients with ZMPSTE24 deficiency could benefit when treated with rapamycin and dimethylsulfoxide. 61
28050601 2017
47
Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A. 61
27612211 2016
48
Potential therapeutic effects of the MTOR inhibitors for preventing ageing and progeria-related disorders. 61
26952863 2016
49
SPRTN is a mammalian DNA-binding metalloprotease that resolves DNA-protein crosslinks. 61
27852435 2016
50
Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7. 61
27793082 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 11.4 WRN MDM2 LMNA ERCC4
2
Show member pathways
10.47 LMNA BANF1

GO Terms for Progeroid Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 telomere maintenance GO:0000723 9.26 WRN ERCC4
2 protein localization to nucleus GO:0034504 9.16 MDM2 LMNA
3 cellular response to gamma radiation GO:0071480 8.96 WRN MDM2
4 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 8.92 MDM2 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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