HGPS
MCID: PRG004
MIFTS: 44

Progeria (HGPS) malady

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Progeria

Aliases & Descriptions for Progeria:

Name: Progeria 12 71 50 52 42 14 69
Hutchinson Gilford Syndrome 12 50
Hgps 12 50
Hutchinson–gilford Progeria Syndrome 71
Hutchinson-Gilford Progeria Syndrome 12
Hutchinson Gilford Progeria Syndrome 50
Hutchinson-Gilford Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:3911
ICD10 33 E34.8
MeSH 42 D011371
NCIt 47 C34951
UMLS 69 C0033300

Summaries for Progeria

NIH Rare Diseases : 50 progeria is a rare condition characterized by dramatic, rapid aging beginning in childhood. affected newborns usually appear normal but within a year, their growth rate slows significantly. affected children develop a distinctive appearance characterized by baldness, aged-looking skin, a pinched nose, and a small face and jaw relative to head size. they also often have symptoms typically seen in much older people including joint stiffness, hip dislocations and severe, progressive cardiovascular disease. intelligence is typically normal. the average lifespan is age 13-14; death is usually due to heart attack or stroke. progeria is caused by mutations in the lmna gene, but almost always results from a new mutation rather than being inherited from a parent. management focuses on the individual signs and symptoms of the condition. although there is currently no cure, research involving treatment is ongoing and progress is being made. last updated: 10/28/2015

MalaCards based summary : Progeria, also known as hutchinson gilford syndrome, is related to hutchinson-gilford progeria and nestor-guillermo progeria syndrome. An important gene associated with Progeria is LMNA (Lamin A/C), and among its related pathways/superpathways are Granzyme Pathway and DNA damage_NHEJ mechanisms of DSBs repair. The drugs Pravastatin and Zoledronic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and smooth muscle, and related phenotypes are cellular and hematopoietic system

Wikipedia : 71 Progeria is an extremely rare genetic disorder in which symptoms resembling aspects of aging are... more...

Related Diseases for Progeria

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

(show top 50) (show all 70)
id Related Disease Score Top Affiliating Genes
1 hutchinson-gilford progeria 33.8 BANF1 LMNA ZMPSTE24
2 nestor-guillermo progeria syndrome 12.2
3 progeria variant syndrome ruvalcaba type 11.7
4 lmna-related cardiocutaneous progeria syndrome 11.7
5 progeria-associated arthropathy 11.7
6 werner syndrome 11.7
7 cockayne syndrome 11.5
8 progeroid short stature with pigmented nevi 10.9
9 cutis laxa, autosomal recessive, type iiia 10.7
10 xeroderma pigmentosum, group f 10.7
11 dyskeratosis congenita 10.7
12 cockayne syndrome type i 10.7
13 cockayne syndrome type ii 10.7
14 cockayne syndrome type iii 10.7
15 autoimmune enteropathy 10.2 LMNA WRN
16 muscular dystrophy-dystroglycanopathy , type a, 3 10.2 LMNA ZMPSTE24
17 tooth agenesis 10.2 LMNA ZMPSTE24
18 mitochondrial complex iii deficiency, nuclear type 8 10.2 LMNA LMNB1
19 thymus cancer 10.1 LMNA ZMPSTE24
20 ventricular tachycardia, catecholaminergic polymorphic, 1 10.1 LMNA LMNB1 ZMPSTE24
21 parametrium malignant neoplasm 10.1 BANF1 LMNA LMNB1
22 greenberg skeletal dysplasia 10.0 LMNA LMNB1
23 mandibuloacral dysplasia 9.9
24 atherosclerosis 9.9
25 cataract 9.7
26 vascular disease 9.7
27 cerebritis 9.7
28 retinitis 9.7
29 myopathy 9.7
30 lipodystrophy 9.7
31 muscular dystrophy 9.7
32 dwarfism 9.7
33 cardiomyopathy 9.7
34 schizophrenia 9.6
35 hiv-1 9.6
36 coronary artery disease 9.6
37 osteoporosis 9.6
38 xeroderma pigmentosum, group a 9.6
39 ataxia-telangiectasia 9.6
40 phenylketonuria 9.6
41 hallermann-streiff syndrome 9.6
42 marcus gunn phenomenon 9.6
43 pulmonary hypertension 9.6
44 alopecia 9.6
45 glomerulonephritis 9.6
46 osteoarthritis 9.6
47 atrioventricular block 9.6
48 artery disease 9.6
49 atrial fibrillation 9.6
50 microcephaly 9.6

Graphical network of the top 20 diseases related to Progeria:



Diseases related to Progeria

Symptoms & Phenotypes for Progeria

MGI Mouse Phenotypes related to Progeria:

44 (show all 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.15 B4GALT1 LMNA LMNB1 NLRP12 PRKDC TNFRSF11B
2 hematopoietic system MP:0005397 10.13 WRN ZMPSTE24 B4GALT1 LMNA LMNB1 NLRP12
3 homeostasis/metabolism MP:0005376 10.06 B4GALT1 LMNA LMNB1 NLRP12 PRKDC RFC1
4 craniofacial MP:0005382 10.02 LMNA LMNB1 PRKDC TNFRSF11B TWIST2 WRN
5 digestive/alimentary MP:0005381 10 B4GALT1 LMNA NLRP12 PRKDC TWIST2 WRN
6 adipose tissue MP:0005375 9.99 B4GALT1 LMNA PRKDC TWIST2 WRN ZMPSTE24
7 immune system MP:0005387 9.97 B4GALT1 LMNA NLRP12 PRKDC TNFRSF11B TWIST2
8 integument MP:0010771 9.87 B4GALT1 LMNA LMNB1 PRKDC TWIST2 WRN
9 mortality/aging MP:0010768 9.85 RFC1 TNFRSF11B TWIST2 WRN ZMPSTE24 ANK3
10 limbs/digits/tail MP:0005371 9.73 LMNA PRELP TNFRSF11B TWIST2 WRN ZMPSTE24
11 respiratory system MP:0005388 9.43 ANK3 B4GALT1 LMNA LMNB1 PRKDC TWIST2
12 skeleton MP:0005390 9.23 ZMPSTE24 LMNA LMNB1 PRELP PRKDC TNFRSF11B

Drugs & Therapeutics for Progeria

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

(show all 20)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pravastatin Approved Phase 2 81093-37-0 54687
2
Zoledronic acid Approved Phase 2 118072-93-8 68740
3
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
4
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
5
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
6
s 1 (combination) Phase 2
7 Diphosphonates Phase 2
8 Pharmaceutical Solutions Phase 2
9 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
10 Hypolipidemic Agents Phase 2
11 Anticholesteremic Agents Phase 2
12 Lipid Regulating Agents Phase 2
13 Antimetabolites Phase 2
14 Bone Density Conservation Agents Phase 2
15 Anti-Bacterial Agents Phase 1, Phase 2
16 Anti-Infective Agents Phase 1, Phase 2
17 Immunosuppressive Agents Phase 1, Phase 2
18 Antifungal Agents Phase 1, Phase 2
19 Antibiotics, Antitubercular Phase 1, Phase 2
20
Menthol Approved 2216-51-5 16666

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Study of Zoledronic Acid, Pravastatin, and Lonafarnib for Patients With Progeria Completed NCT00879034 Phase 2
2 Treatment of the Hutchinson-Gilford Progeria Syndrome With a Combination of Pravastatin and Zoledronic Acid Completed NCT00731016 Phase 2
3 Phase II Trial of Lonafarnib (a Farnesyltransferase Inhibitor) for Progeria Completed NCT00425607 Phase 2
4 Phase I/II Trial of Everolimus in Combination With Lonafarnib in Progeria Recruiting NCT02579044 Phase 1, Phase 2
5 Study of Zoledronic Acid, Pravastatin, and Lonafarnib for Patients With Progeria Enrolling by invitation NCT00916747 Phase 2
6 Clinical Studies of Progeria Completed NCT00094393
7 Accelerated Aging, HIV Infection, Antiretroviral Therapies Completed NCT01038999
8 Identification of a New Gene Involved in Hereditary Lipodystrophy Completed NCT02056912

Search NIH Clinical Center for Progeria

Cochrane evidence based reviews: progeria

Genetic Tests for Progeria

Anatomical Context for Progeria

MalaCards organs/tissues related to Progeria:

39
Skin, Heart, Smooth Muscle, Bone, T Cells, Kidney, Skeletal Muscle

Publications for Progeria

Articles related to Progeria:

(show top 50) (show all 516)
id Title Authors Year
1
Metformin alleviates ageing cellular phenotypes in Hutchinson-Gilford progeria syndrome dermal fibroblasts. ( 28192606 )
2017
2
Nailfold scleroderma-like capillary abnormalities in Werner syndrome (adult progeria). ( 28466674 )
2017
3
Mechanics in human fibroblasts and progeria: Lamin A mutation E145K results in stiffening of nuclei. ( 27677907 )
2017
4
Progerin-Induced Replication Stress Facilitates Premature Senescence in Hutchinson Gilford Progeria Syndrome. ( 28483909 )
2017
5
Chemical screening identifies ROCK as a target for recovering mitochondrial function in Hutchinson-Gilford progeria syndrome. ( 28317242 )
2017
6
Progeria and the early aging in children: a case report. ( 27267192 )
2016
7
Potential therapeutic effects of the mtor inhibitors for preventing ageing and progeria-related disorders. ( 26952863 )
2016
8
Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation. ( 27334370 )
2016
9
Temsirolimus Partially Rescues the Hutchinson-Gilford Progeria Cellular Phenotype. ( 28033363 )
2016
10
Clinical Trial of the Protein Farnesylation Inhibitors Lonafarnib, Pravastatin, and Zoledronic Acid in Children With Hutchinson-Gilford Progeria Syndrome. ( 27400896 )
2016
11
Enhanced SRSF5 Protein Expression Reinforces Lamin A mRNA Production in HeLa Cells and Fibroblasts of Progeria Patients. ( 26670336 )
2016
12
Permanent farnesylation of lamin A mutants linked to progeria impairs its phosphorylation at serine 22 during interphase. ( 26922519 )
2016
13
Cardiac electrical defects in progeroid mice and Hutchinson-Gilford progeria syndrome patients with nuclear lamina alterations. ( 27799555 )
2016
14
Seeking a Cure for One of the Rarest Diseases: Progeria. ( 27400897 )
2016
15
Speeding up the clock: The past, present and future of progeria. ( 26691051 )
2016
16
The decision-making process and criteria in selecting candidate drugs for progeria clinical trials. ( 27234439 )
2016
17
Interruption of progerin-lamin A/C binding ameliorates Hutchinson-Gilford progeria syndrome phenotype. ( 27617860 )
2016
18
Adult Progeria: Werner Syndrome. ( 27734655 )
2016
19
Hutchinson-Gilford Progeria Syndrome: A premature aging disease caused by LMNA gene mutations. ( 27374873 )
2016
20
Progerin impairs chromosome maintenance by depleting CENP-F from metaphase kinetochores in Hutchinson-Gilford progeria fibroblasts. ( 27015553 )
2016
21
Drug screening on Hutchinson Gilford progeria pluripotent stem cells reveals aminopyrimidines as new modulators of farnesylation. ( 26890144 )
2016
22
Vitamin D receptor signaling improves Hutchinson-Gilford progeria syndrome cellular phenotypes. ( 27145372 )
2016
23
Coronary artery stenting in a patient with progeria. ( 27567006 )
2016
24
Methylene blue alleviates nuclear and mitochondrial abnormalities in progeria. ( 26663466 )
2016
25
Loss of H3K9me3 Correlates with ATM Activation and Histone H2AX Phosphorylation Deficiencies in Hutchinson-Gilford Progeria Syndrome. ( 27907109 )
2016
26
Radiographic presentation of musculoskeletal involvement in Werner syndrome (adult progeria). ( 27931782 )
2016
27
Molecular insights into the premature aging disease progeria. ( 26847180 )
2016
28
A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome. ( 27920058 )
2016
29
Anaesthesia and orphan disease: Hutchinson-Gilford progeria syndrome, a case report and summary of previous cases. ( 27749465 )
2016
30
Gene-rich chromosomal regions are preferentially localized in the lamin B deficient nuclear blebs of atypical progeria cells. ( 25738644 )
2015
31
Hutchinson-Gilford progeria. ( 25946677 )
2015
32
Stem cell aging in adult progeria. ( 26435834 )
2015
33
DNA repair defects and genome instability in Hutchinson-Gilford Progeria Syndrome. ( 26079711 )
2015
34
Proliferation of progeria cells is enhanced by lamina-associated polypeptide 2I+ (LAP2I+) through expression of extracellular matrix proteins. ( 26443848 )
2015
35
Hutchinson-Gilford progeria syndrome. ( 26753148 )
2015
36
Sulforaphane enhances progerin clearance in Hutchinson-Gilford progeria fibroblasts. ( 25510262 )
2015
37
Treatment considerations in hutchinson-gilford progeria syndrome: a case report. ( 25823488 )
2015
38
Hutchinson-Gilford progeria syndrome. ( 26564085 )
2015
39
Can Hutchinson-Gilford progeria syndrome be cured in the future? ( 25984432 )
2015
40
Restoring SIRT6 Expression in Hutchinson-Gilford Progeria Syndrome Cells Impedes Premature Senescence and Formation of Dysmorphic Nuclei. ( 25765721 )
2015
41
Signaling pathway activation drift during aging: Hutchinson-Gilford Progeria Syndrome fibroblasts are comparable to normal middle-age and old-age cells. ( 25587796 )
2015
42
Barrier to Autointegration Factor (BANF1): interwoven roles in nuclear structure, genome integrity, innate immunity, stress responses and progeria. ( 26072104 )
2015
43
Medicine. Progeria accelerates adult stem cell aging. ( 26045423 )
2015
44
Pluripotent stem cells to model Hutchinson-Gilford progeria syndrome (HGPS): Current trends and future perspectives for drug discovery. ( 26474742 )
2015
45
Progerin reduces LAP2I+-telomere association in Hutchinson-Gilford progeria. ( 26312502 )
2015
46
Reactivation of latently infected HIV-1 viral reservoirs and correction of aberrant alternative splicing in the LMNA gene via AMPK activation: Common mechanism of action linking HIV-1 latency and Hutchinson-Gilford progeria syndrome. ( 26115946 )
2015
47
Hutchinson-Gilford Progeria Syndrome Caused by an LMNA Mutation: A Case Report. ( 25556323 )
2015
48
All-trans retinoic acid and rapamycin normalize Hutchinson Gilford progeria fibroblast phenotype. ( 26359359 )
2015
49
Transgene silencing of the Hutchinson-Gilford progeria syndrome mutation results in a reversible bone phenotype, whereas resveratrol treatment does not show overall beneficial effects. ( 25877214 )
2015
50
Vascular disease modeling using induced pluripotent stem cells: Focus in Hutchinson-Gilford Progeria Syndrome. ( 26474704 )
2015

Variations for Progeria

ClinVar genetic disease variations for Progeria:

6 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1 LMNA NM_170707.3(LMNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Pathogenic rs57318642 GRCh37 Chromosome 1, 156106994: 156106994
2 LMNA NM_170707.3(LMNA): c.1824C> T (p.Gly608=) single nucleotide variant Pathogenic rs58596362 GRCh37 Chromosome 1, 156108404: 156108404
3 LMNA NM_170707.3(LMNA): c.1822G> A (p.Gly608Ser) single nucleotide variant Pathogenic rs61064130 GRCh37 Chromosome 1, 156108402: 156108402
4 LMNA NM_170707.3(LMNA): c.433G> A (p.Glu145Lys) single nucleotide variant Pathogenic rs60310264 GRCh37 Chromosome 1, 156100484: 156100484
5 LMNA NM_170707.3(LMNA): c.1821G> A (p.Val607=) single nucleotide variant Pathogenic rs59886214 GRCh37 Chromosome 1, 156108401: 156108401
6 LMNA NM_170707.3(LMNA): c.1619T> C (p.Met540Thr) single nucleotide variant Pathogenic rs267607547 GRCh37 Chromosome 1, 156107455: 156107455
7 LMNA NM_170707.3(LMNA): c.1868C> G (p.Thr623Ser) single nucleotide variant Pathogenic rs59267781 GRCh37 Chromosome 1, 156108448: 156108448
8 LMNA NM_170707.3(LMNA): c.1968+1G> A single nucleotide variant Pathogenic rs113436208 GRCh37 Chromosome 1, 156108549: 156108549
9 LMNA NM_170707.3(LMNA): c.667G> A (p.Glu223Lys) single nucleotide variant Pathogenic rs797044485 GRCh38 Chromosome 1, 156134832: 156134832
10 LMNA NM_170707.3(LMNA): c.1699_1968del270 (p.Gly567_Gln656del) deletion Pathogenic GRCh38 Chromosome 1, 156138488: 156138757
11 LMNA NM_170707.3(LMNA): c.1771T> A (p.Cys591Ser) single nucleotide variant Pathogenic rs797044486 GRCh38 Chromosome 1, 156138560: 156138560
12 LMNA NM_170707.3(LMNA): c.1968G> A (p.Gln656=) single nucleotide variant Pathogenic rs797044487 GRCh38 Chromosome 1, 156138757: 156138757
13 LMNA NM_170707.3(LMNA): c.1968+1G> C single nucleotide variant Pathogenic rs113436208 GRCh38 Chromosome 1, 156138758: 156138758
14 LMNA NM_170707.3(LMNA): c.1968+2T> A single nucleotide variant Pathogenic rs113860699 GRCh38 Chromosome 1, 156138759: 156138759
15 LMNA NM_170707.3(LMNA): c.1968+2T> C single nucleotide variant Pathogenic rs113860699 GRCh38 Chromosome 1, 156138759: 156138759
16 LMNA NM_170707.3(LMNA): c.1968+5G> A single nucleotide variant Pathogenic rs797044488 GRCh38 Chromosome 1, 156138762: 156138762
17 LMNA NM_170707.3(LMNA): c.1968+5G> C single nucleotide variant Pathogenic rs797044488 GRCh38 Chromosome 1, 156138762: 156138762

Expression for Progeria

Search GEO for disease gene expression data for Progeria.

Pathways for Progeria

Pathways related to Progeria according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.81 LMNA LMNB1 PRKDC
2 10.54 PRKDC WRN
3
Show member pathways
10.32 BANF1 LMNA LMNB1

GO Terms for Progeria

Cellular components related to Progeria according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lamin filament GO:0005638 8.62 LMNA LMNB1

Biological processes related to Progeria according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.5 B4GALT1 ELN TNFRSF11B
2 keratan sulfate biosynthetic process GO:0018146 9.26 B4GALT1 PRELP
3 cell aging GO:0007569 9.16 PRELP WRN
4 nuclear envelope organization GO:0006998 8.96 LMNA ZMPSTE24
5 mitotic nuclear envelope reassembly GO:0007084 8.62 BANF1 LMNA

Sources for Progeria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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