MCID: PRG139
MIFTS: 27

Progeroid Syndrome

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Progeroid Syndrome

MalaCards integrated aliases for Progeroid Syndrome:

Name: Progeroid Syndrome 59
Syndrome, Progeroid 40

Classifications:



External Ids:

Orphanet 59 ORPHA139033

Summaries for Progeroid Syndrome

MalaCards based summary : Progeroid Syndrome, also known as syndrome, progeroid, is related to xfe progeroid syndrome and atypical werner 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.

Wikipedia : 75 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 128)
# Related Disease Score Top Affiliating Genes
1 xfe progeroid syndrome 34.1 WRN ERCC4
2 atypical werner syndrome 32.4 WRN LMNA
3 werner syndrome 32.3 WRN LMNA
4 hutchinson-gilford progeria syndrome 31.7 WRN LMNA
5 marfan syndrome 29.9 FBN1 DCN
6 emery-dreifuss muscular dystrophy 29.5 LMNA BANF1
7 fanconi anemia, complementation group a 29.4 WRN LMNA ERCC4
8 fontaine progeroid syndrome 12.7
9 ehlers-danlos syndrome progeroid type 12.4
10 wiedemann-rautenstrauch syndrome 12.4
11 generalized lipodystrophy-associated progeroid syndrome 12.3
12 genetic progeroid syndrome 12.3
13 progeroid syndrome petty type 12.2
14 progeroid syndrome, penttinen type 12.1
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 premature aging 11.7
19 cutis laxa, autosomal recessive, type iiia 11.7
20 autosomal recessive cutis laxa type iii 11.7
21 ehlers-danlos syndrome, spondylodysplastic type, 2 11.5
22 spondylodysplastic ehlers-danlos syndrome 11.3
23 autosomal dominant deafness-onychodystrophy syndrome 11.1
24 aging 10.4
25 restrictive dermopathy, lethal 10.3
26 xeroderma pigmentosum, variant type 10.3
27 cockayne syndrome 10.3
28 cataract 10.3
29 alopecia 10.3
30 mandibuloacral dysplasia with type a lipodystrophy 10.2
31 acroosteolysis 10.2
32 osteoporosis 10.2
33 dowling-degos disease 1 10.2
34 bloom syndrome 10.2
35 adrenomyodystrophy 10.2
36 ataxia and polyneuropathy, adult-onset 10.2
37 telangiectasis 10.2
38 microcephaly 10.2
39 laminopathy 10.2
40 teeth present at birth 10.1
41 ataxia-telangiectasia 10.1
42 rothmund-thomson syndrome 10.1
43 trichothiodystrophy 1, photosensitive 10.1
44 bone mineral density quantitative trait locus 8 10.1
45 bone mineral density quantitative trait locus 15 10.1
46 autosomal recessive disease 10.1
47 scoliosis 10.1
48 entropion 10.1
49 lipid metabolism disorder 10.1
50 systemic scleroderma 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:

41
Skin, Bone, Liver, Brain, Heart, Kidney, Bone Marrow

Publications for Progeroid Syndrome

Articles related to Progeroid Syndrome:

(show top 50) (show all 217)
# Title Authors PMID Year
1
Diffuse, mottled hyperpigmentation and mutations in LMNA gene in a 5-year-old boy, his mother, and his grandmother: Atypical progeroid syndrome. 38
31378009 2019
2
Epigenetic signatures of Werner syndrome occur early in life and are distinct from normal epigenetic aging processes. 38
31259468 2019
3
Diabetes mellitus coexisted with progeria: a case report of atypical Werner syndrome with novel LMNA mutations and literature review. 38
31270292 2019
4
Accelerated bio-cognitive aging in Down syndrome: State of the art and possible deceleration strategies. 38
30768754 2019
5
Growing Old Too Fast: A Rare Case of Werner Syndrome. 38
31363425 2019
6
Special-needs patients in pediatric dentistry: Progeroid syndrome. A case of dental management and oral rehabilitation. 38
31214300 2019
7
The Shape of Mitochondrial Dysfunction in Down Syndrome. 38
30830726 2019
8
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. 38
30450527 2018
9
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. 38
30414627 2018
10
A Transcriptome Study of Progeroid Neurocutaneous Syndrome Reveals POSTN As a New Element in Proline Metabolic Disorder. 38
30574417 2018
11
A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24. 38
30329211 2018
12
Fisetin is a senotherapeutic that extends health and lifespan. 38
30279143 2018
13
RECQ helicase disease and related progeroid syndromes: RECQ2018 meeting. 38
29752965 2018
14
A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation. 38
29267953 2018
15
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes. 38
29105242 2018
16
Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene. 38
29199204 2018
17
Modeling Alzheimer's disease in progeria mice. An age-related concept. 38
30319737 2018
18
Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis. 38
29610677 2018
19
A De Novo POLD1 Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome. 38
30023403 2018
20
The Continuum of Aging and Age-Related Diseases: Common Mechanisms but Different Rates. 38
29662881 2018
21
Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A. 38
29057985 2017
22
Dysfunction of the MDM2/p53 axis is linked to premature aging. 38
28846075 2017
23
Identification of HSP90 inhibitors as a novel class of senolytics. 38
28871086 2017
24
Recent Trends in WRN Gene Mutation Patterns in Individuals with Werner Syndrome. 38
28394436 2017
25
Werner syndrome: a model for sarcopenia due to accelerated aging. 38
28738022 2017
26
Uncommon cause of cirrhosis-A case of Werner syndrome with a novel WRN mutation. 38
28795391 2017
27
Expansion of myeloid-derived suppressor cells with aging in the bone marrow of mice through a NF-κB-dependent mechanism. 38
28229533 2017
28
A novel splice-site mutation of WRN (c.IVS28+2T>C) identified in a consanguineous family with Werner Syndrome. 38
28440507 2017
29
Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype. 38
28276523 2017
30
Retinal features in Mulvihill-Smith syndrome. 38
27268268 2017
31
Progeroid syndrome patients with ZMPSTE24 deficiency could benefit when treated with rapamycin and dimethylsulfoxide. 38
28050601 2017
32
Werner syndrome: Clinical features, pathogenesis and potential therapeutic interventions. 38
26993153 2017
33
Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A. 38
27612211 2016
34
Potential therapeutic effects of the MTOR inhibitors for preventing ageing and progeria-related disorders. 38
26952863 2016
35
SPRTN is a mammalian DNA-binding metalloprotease that resolves DNA-protein crosslinks. 38
27852435 2016
36
Absence of premature senescence in Werner's syndrome keratinocytes. 38
27492502 2016
37
Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7. 38
27793082 2016
38
A Case of Novel Lamin A/C Mutation Manifesting as Atypical Progeroid Syndrome and Cardiomyopathy. 38
27265359 2016
39
Defective DNA repair increases susceptibility to senescence through extension of Chk1-mediated G2 checkpoint activation. 38
27507734 2016
40
Increased susceptibility to oxidative stress- and ultraviolet A-induced apoptosis in fibroblasts in atypical progeroid syndrome/atypical Werner syndrome with LMNA mutation. 38
27539898 2016
41
The Werner syndrome RECQ helicase targets G4 DNA in human cells to modulate transcription. 38
26984941 2016
42
The effect of RO3201195 and a pyrazolyl ketone P38 MAPK inhibitor library on the proliferation of Werner syndrome cells. 38
26611938 2016
43
Oxidative Stress in Cancer-Prone Genetic Diseases in Pediatric Age: The Role of Mitochondrial Dysfunction. 38
27239251 2016
44
Genomic diagnosis by whole genome sequencing in a Korean family with atypical progeroid syndrome. 38
26122271 2015
45
Anesthesia in an Aging Infant: Neonatal Progeroid Syndrome. 38
26422454 2015
46
Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies. 38
26350127 2015
47
POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome. 38
26172944 2015
48
Barrier to Autointegration Factor (BANF1): interwoven roles in nuclear structure, genome integrity, innate immunity, stress responses and progeria. 38
26072104 2015
49
"...Rewritten in the skin": clues to skin biology and aging from inherited disease. 38
25810110 2015
50
Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience. 38
25367549 2015

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 double-strand break repair via homologous recombination GO:0000724 9.16 WRN ERCC4
2 telomere maintenance GO:0000723 8.96 WRN ERCC4
3 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....