MCID: PRG139
MIFTS: 29

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 wiedemann-rautenstrauch syndrome and xfe progeroid 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 skin, myeloid and bone marrow, and related phenotypes are cellular and mortality/aging

Wikipedia : 73 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 147)
# Related Disease Score Top Affiliating Genes
1 wiedemann-rautenstrauch syndrome 33.0 POLR3A LMNA
2 xfe progeroid syndrome 32.7 WRN ERCC4
3 hutchinson-gilford progeria syndrome 31.4 WRN SLC25A24 LMNA ERCC4 BANF1
4 acroosteolysis 30.5 MTX2 LMNA
5 skin atrophy 29.6 WRN LMNA
6 ruijs-aalfs syndrome 29.5 WRN SPRTN
7 marfan syndrome 29.3 FBN1 DCN COL1A1
8 ehlers-danlos syndrome 29.3 FBN1 DCN COL1A1 B4GALT7
9 fontaine progeroid syndrome 11.7
10 ehlers-danlos syndrome, spondylodysplastic type, 2 11.5
11 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 11.4
12 progeroid syndrome petty type 11.4
13 marfanoid-progeroid-lipodystrophy syndrome 11.4
14 mandibuloacral dysplasia progeroid syndrome 11.3
15 cutis laxa, autosomal recessive, type iiia 11.2
16 autosomal recessive cutis laxa type iii 11.2
17 atypical werner syndrome 11.2
18 nestor-guillermo progeria syndrome 11.2
19 premature aging 11.2
20 werner syndrome 11.2
21 spondylodysplastic ehlers-danlos syndrome 11.1
22 generalized lipodystrophy-associated progeroid syndrome 11.1
23 genetic progeroid syndrome 11.0
24 premature aging syndrome, penttinen type 10.9
25 lessel-kubisch syndrome 10.9
26 autosomal dominant deafness-onychodystrophy syndrome 10.9
27 alopecia 10.3
28 cutis laxa, autosomal recessive, type ib 10.2 PYCR1 FBN1
29 mandibuloacral dysplasia with type a lipodystrophy 10.2
30 leukodystrophy, hypomyelinating, 10 10.2 PYCR1 POLR3A
31 emery-dreifuss muscular dystrophy 1, x-linked 10.2 LMNA BANF1
32 cutis laxa, autosomal recessive, type ia 10.2 PYCR1 FBN1
33 dowling-degos disease 1 10.2
34 adrenomyodystrophy 10.2
35 cataract 10.2
36 neonatal marfan syndrome 10.1 FBN1 DCN
37 autosomal recessive cutis laxa type ii classic type 10.1 PYCR1 FBN1
38 autosomal recessive cutis laxa type i 10.1 PYCR1 FBN1
39 scleredema adultorum 10.1 FBN1 DCN
40 scoliosis 10.1
41 microcephaly 10.1
42 lipid metabolism disorder 10.1
43 osteopoikilosis 10.1 LMNA BANF1
44 hypertriglyceridemia, familial 10.1
45 osteoporosis 10.1
46 teeth present at birth 10.1
47 charcot-marie-tooth disease, axonal, type 2e 10.1
48 autosomal recessive disease 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.02 COL1A1 DCN ERCC4 FBN1 LMNA MDM2
2 mortality/aging MP:0010768 10 COL1A1 DCN ERCC4 FBN1 LMNA MDM2
3 craniofacial MP:0005382 9.8 COL1A1 DCN FBN1 LMNA MDM2 WRN
4 muscle MP:0005369 9.63 COL1A1 DCN FBN1 LMNA MDM2 SPRTN
5 renal/urinary system MP:0005367 9.43 COL1A1 DCN FBN1 LMNA MDM2 POLR3A
6 skeleton MP:0005390 9.23 COL1A1 DCN FBN1 LMNA MDM2 POLR3A

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, Myeloid, Bone Marrow

Publications for Progeroid Syndrome

Articles related to Progeroid Syndrome:

(show top 50) (show all 242)
# Title Authors PMID Year
1
Increased insulin sensitivity and diminished pancreatic beta-cell function in DNA repair deficient Ercc1d/- mice. 61
33493548 2021
2
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
3
Severe metabolic disorders coexisting with Werner syndrome: a case report. 61
33087645 2021
4
SMAD4 mutations and cross-talk between TGF-β/IFNγ signaling accelerate rates of DNA damage and cellular senescence, resulting in a segmental progeroid syndrome-the Myhre syndrome. 61
33428109 2021
5
Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome. 61
32555393 2020
6
Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations. 61
33134517 2020
7
Cutaneous and metabolic defects associated with nuclear abnormalities in a transgenic mouse model expressing R527H lamin A mutation causing mandibuloacral dysplasia type A (MADA) syndrome. 61
33458588 2020
8
Pathophysiology of premature aging characteristics in Mendelian progeroid disorders. 61
32791128 2020
9
Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant. 61
32939435 2020
10
Atypical Progeroid Syndrome and Partial Lipodystrophy Due to LMNA Gene p.R349W Mutation. 61
32913962 2020
11
Is Gorlin-Chaudhry-Moss syndrome associated with aortopathy? 61
32355952 2020
12
A Novel Syndrome With Short Stature, Mandibular Hypoplasia, and Osteoporosis May Be Associated With a PRRT3 Variant. 61
32803092 2020
13
Mitochondrial Dysfunction, Oxidative Stress, and Neuroinflammation: Intertwined Roads to Neurodegeneration. 61
32707949 2020
14
Fibrillin-1 and fibrillin-1-derived asprosin in adipose tissue function and metabolic disorders. 61
32279186 2020
15
Epigenetic deregulation of lamina-associated domains in Hutchinson-Gilford progeria syndrome. 61
32450911 2020
16
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review. 61
32340404 2020
17
A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL. 61
31695177 2020
18
Energy Regulation Mechanism and Therapeutic Potential of Asprosin. 61
32198197 2020
19
Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice. 61
32245113 2020
20
Recurrent Femoral Fractures in a Boy with an Atypical Progeroid Syndrome: A Case Report. 61
31807803 2020
21
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
22
Inactivating Mutations in Exonuclease and Polymerase Domains in DNA Polymerase Delta Alter Sensitivities to Inhibitors of dNTP Synthesis. 61
31750734 2020
23
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
24
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
25
ATP-based therapy prevents vascular calcification and extends longevity in a mouse model of Hutchinson-Gilford progeria syndrome. 61
31690656 2019
26
Diabetes mellitus coexisted with progeria: a case report of atypical Werner syndrome with novel LMNA mutations and literature review. 61
31270292 2019
27
Epigenetic signatures of Werner syndrome occur early in life and are distinct from normal epigenetic aging processes. 61
31259468 2019
28
The Shape of Mitochondrial Dysfunction in Down Syndrome. 61
30830726 2019
29
Accelerated bio-cognitive aging in Down syndrome: State of the art and possible deceleration strategies. 61
30768754 2019
30
Growing Old Too Fast: A Rare Case of Werner Syndrome. 61
31363425 2019
31
Special-needs patients in pediatric dentistry: Progeroid syndrome. A case of dental management and oral rehabilitation. 61
31214300 2019
32
Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome. 61
31998237 2019
33
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
34
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. 61
30414627 2018
35
A Transcriptome Study of Progeroid Neurocutaneous Syndrome Reveals POSTN As a New Element in Proline Metabolic Disorder. 61
30574417 2018
36
A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24. 61
30329211 2018
37
Fisetin is a senotherapeutic that extends health and lifespan. 61
30279143 2018
38
RECQ helicase disease and related progeroid syndromes: RECQ2018 meeting. 61
29752965 2018
39
A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation. 61
29267953 2018
40
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes. 61
29105242 2018
41
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
42
The Continuum of Aging and Age-Related Diseases: Common Mechanisms but Different Rates. 61
29662881 2018
43
Modeling Alzheimer's disease in progeria mice. An age-related concept. 61
30319737 2018
44
Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis. 61
29610677 2018
45
A De Novo POLD1 Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome. 61
30023403 2018
46
Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A. 61
29057985 2017
47
Dysfunction of the MDM2/p53 axis is linked to premature aging. 61
28846075 2017
48
Identification of HSP90 inhibitors as a novel class of senolytics. 61
28871086 2017
49
Recent Trends in WRN Gene Mutation Patterns in Individuals with Werner Syndrome. 61
28394436 2017
50
Uncommon cause of cirrhosis-A case of Werner syndrome with a novel WRN mutation. 61
28795391 2017

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 11.49 WRN SMC2 MDM2 LMNA ERCC4
2
Show member pathways
10.47 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 condensed chromosome GO:0000793 8.62 SMC2 BANF1

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

# Name GO ID Score Top Affiliating Genes
1 response to steroid hormone GO:0048545 9.37 MDM2 COL1A1
2 cellular response to gamma radiation GO:0071480 9.32 WRN MDM2
3 chromosome condensation GO:0030261 9.26 SMC2 BANF1
4 mitochondrial transport GO:0006839 9.16 SLC25A24 MTX2
5 mitotic nuclear envelope reassembly GO:0007084 8.96 LMNA BANF1
6 protein localization to nucleus GO:0034504 8.8 MDM2 LMNA COL1A1

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.5 PYCR1 MDM2 LMNA FBN1 ERCC4 COL1A1
2 single-stranded DNA binding GO:0003697 9.33 SPRTN SMC2 ERCC4
3 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
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
Content
Loading form....