HGPS
MCID: HTC003
MIFTS: 65

Hutchinson-Gilford Progeria Syndrome (HGPS)

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Hutchinson-Gilford Progeria Syndrome

MalaCards integrated aliases for Hutchinson-Gilford Progeria Syndrome:

Name: Hutchinson-Gilford Progeria Syndrome 57 12 24 25 59 75 37
Progeria 57 12 76 53 25 59 55 44 15 73
Hgps 57 12 53 25 59 75
Hutchinson-Gilford Syndrome 25 29 6
Hutchinson-Gilford Progeria 57 13
Hutchinson Gilford Syndrome 12 53
Syndrome, Hutchinson-Gilford Progeria 40
Hutchinson Gilford Progeria Syndrome 53
Hutchinsongilfordprogeria Syndrome 76
Hutchinson-Gilford Disease 12
Progeria of Childhood 25
Hutchinson-Gilford 76

Characteristics:

Orphanet epidemiological data:

59
hutchinson-gilford progeria syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
paternal age effect
premature aging
median life expectancy, 13.4 years
most patients have de novo mutations
recessive inheritance is rare
some patients have an atypical phenotype with a more protracted disease course resulting in death in middle age


HPO:

32
hutchinson-gilford progeria syndrome:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance is complete...

Classifications:



Summaries for Hutchinson-Gilford Progeria Syndrome

OMIM : 57 Hutchinson-Gilford progeria syndrome is a rare disorder characterized by short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons. Cardiovascular compromise leads to early death. Cognitive development is normal. Onset is usually within the first year of life (review by Hennekam, 2006). The designation Hutchinson-Gilford progeria syndrome appears to have been first used by DeBusk (1972). A subset of patients with heterozygous mutations in the LMNA gene and a phenotype similar to HGPS have shown onset of the disorder in late childhood or in the early teenage years, and have longer survival than observed in classic HGPS (Chen et al., 2003; Hegele, 2003). Other disorders with a less severe, but overlapping phenotype include mandibuloacral dysplasia (MADA; 248370), an autosomal disorder caused by homozygous or compound heterozygous mutations in the LMNA gene, dilated cardiomyopathy with hypergonadotropic hypogonadism (212112), caused by heterozygous mutation in the LMNA gene, and Werner syndrome (277700), an autosomal recessive progeroid syndrome caused by homozygous or compound heterozygous mutations in the RECQL2 gene (604611). (176670)

MalaCards based summary : Hutchinson-Gilford Progeria Syndrome, also known as progeria, is related to atypical werner syndrome and mandibuloacral dysplasia with type a lipodystrophy. An important gene associated with Hutchinson-Gilford Progeria Syndrome is LMNA (Lamin A/C), and among its related pathways/superpathways are DNA Damage and G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins. The drugs Zoledronic acid and Pravastatin have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and eye, and related phenotypes are osteoarthritis and hypertension

Genetics Home Reference : 25 Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and do not gain weight at the expected rate (failure to thrive). They develop a characteristic facial appearance including prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding ears. Hutchinson-Gilford progeria syndrome also causes hair loss (alopecia), aged-looking skin, joint abnormalities, and a loss of fat under the skin (subcutaneous fat). This condition does not affect intellectual development or the development of motor skills such as sitting, standing, and walking.

NIH Rare Diseases : 53 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.

UniProtKB/Swiss-Prot : 75 Hutchinson-Gilford progeria syndrome: Rare genetic disorder characterized by features reminiscent of marked premature aging.

Wikipedia : 76 Progeria is an extremely rare autosomal dominant genetic disorder in which symptoms resembling aspects... more...

GeneReviews: NBK1121

Related Diseases for Hutchinson-Gilford Progeria Syndrome

Diseases related to Hutchinson-Gilford Progeria Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 atypical werner syndrome 32.5 WRN LMNA
2 mandibuloacral dysplasia with type a lipodystrophy 30.6 ZMPSTE24 LMNA
3 nestor-guillermo progeria syndrome 12.5
4 progeria variant syndrome ruvalcaba type 12.0
5 lmna-related cardiocutaneous progeria syndrome 12.0
6 progeria-associated arthropathy 12.0
7 cockayne syndrome 11.8
8 progeroid short stature with pigmented nevi 11.2
9 cutis laxa, autosomal recessive, type iiia 11.2
10 autosomal recessive cutis laxa type iii 11.2
11 aging 11.1
12 clark-baraitser syndrome 11.0
13 cutis laxa, autosomal recessive, type iia 11.0
14 xeroderma pigmentosum, complementation group f 11.0
15 dyskeratosis congenita 11.0
16 cockayne syndrome type i 11.0
17 cockayne syndrome type ii 11.0
18 cockayne syndrome type iii 11.0
19 werner syndrome 10.5
20 aortic valve disease 2 10.5
21 ichthyosis prematurity syndrome 10.4
22 gingival recession 10.4
23 bone disease 10.4
24 pigmentation disease 10.4
25 hypoparathyroidism 10.4
26 vascular disease 10.4
27 calcinosis 10.4
28 aortic disease 10.4
29 cerebrovascular disease 10.4
30 scleredema 10.4
31 leukodystrophy, demyelinating, adult-onset, autosomal dominant 10.2 LMNB1 LMNA
32 adrenomyodystrophy 10.2
33 complete generalized lipodystrophy 10.2 ZMPSTE24 LMNA
34 skin disease 10.2
35 restrictive dermopathy, lethal 10.2 ZMPSTE24 LMNA
36 reynolds syndrome 10.1 ZMPSTE24 LMNB1 LMNA
37 ovarian cystadenoma 10.1 ZMPSTE24 LMNA
38 acroosteolysis 10.0 ZMPSTE24 LMNA
39 atherosclerosis susceptibility 10.0
40 hyperglycemia 10.0
41 congenital giant megaureter 10.0
42 xeroderma pigmentosum, variant type 10.0
43 stroke, ischemic 10.0
44 myopathy 10.0
45 muscular dystrophy 10.0
46 dwarfism 10.0
47 acquired generalized lipodystrophy 9.9 ZMPSTE24 WRN LMNA ACAN
48 alzheimer disease 9.8
49 arteries, anomalies of 9.8
50 fish-eye disease 9.8

Graphical network of the top 20 diseases related to Hutchinson-Gilford Progeria Syndrome:



Diseases related to Hutchinson-Gilford Progeria Syndrome

Symptoms & Phenotypes for Hutchinson-Gilford Progeria Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
micrognathia
midface hypoplasia

Skin Nails Hair Skin:
absence of subcutaneous fat

Skeletal:
generalized osteoporosis with pathologic fractures

Skin Nails Hair Hair:
alopecia

Growth Other:
postnatal onset growth retardation


Clinical features from OMIM:

176670

Human phenotypes related to Hutchinson-Gilford Progeria Syndrome:

59 32 (show top 50) (show all 104)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 59 32 frequent (33%) Frequent (79-30%) HP:0002758
2 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
3 osteopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000938
4 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
5 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
6 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
7 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
8 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
9 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
10 delayed puberty 59 32 very rare (1%) Very rare (<4-1%) HP:0000823
11 aminoaciduria 59 32 frequent (33%) Frequent (79-30%) HP:0003355
12 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
13 prominent forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0011220
14 lipoatrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100578
15 hypertriglyceridemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002155
16 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
17 angina pectoris 59 32 frequent (33%) Frequent (79-30%) HP:0001681
18 transient ischemic attack 59 32 occasional (7.5%) Occasional (29-5%) HP:0002326
19 acanthosis nigricans 59 32 occasional (7.5%) Occasional (29-5%) HP:0000956
20 ovoid vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0003300
21 delayed eruption of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000684
22 thin skin 59 32 frequent (33%) Frequent (79-30%) HP:0000963
23 lack of skin elasticity 59 32 frequent (33%) Frequent (79-30%) HP:0100679
24 hypohidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000966
25 growth delay 59 32 Very frequent (99-80%) HP:0001510
26 hepatic steatosis 59 32 frequent (33%) Frequent (79-30%) HP:0001397
27 hyperinsulinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000842
28 alopecia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001596
29 prolonged qt interval 59 32 occasional (7.5%) Occasional (29-5%) HP:0001657
30 premature graying of hair 59 32 frequent (33%) Frequent (79-30%) HP:0002216
31 hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002827
32 keratoconjunctivitis sicca 59 32 frequent (33%) Frequent (79-30%) HP:0001097
33 thin ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000883
34 left ventricular hypertrophy 59 32 very rare (1%) Very rare (<4-1%) HP:0001712
35 dental crowding 59 32 occasional (7.5%) Occasional (29-5%) HP:0000678
36 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
37 hypotrichosis 59 32 frequent (33%) Frequent (79-30%) HP:0001006
38 nasal speech 59 32 hallmark (90%) Very frequent (99-80%) HP:0001611
39 thrombocytosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001894
40 hypodontia 59 32 frequent (33%) Frequent (79-30%) HP:0000668
41 nail dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002164
42 proptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000520
43 thin vermilion border 59 32 frequent (33%) Frequent (79-30%) HP:0000233
44 high pitched voice 59 32 hallmark (90%) Very frequent (99-80%) HP:0001620
45 infertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000789
46 sparse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0008070
47 absent eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0000561
48 hypoplastic nipples 59 32 frequent (33%) Frequent (79-30%) HP:0002557
49 bird-like facies 59 32 hallmark (90%) Very frequent (99-80%) HP:0000320
50 aplasia/hypoplasia of the earlobes 59 32 frequent (33%) Frequent (79-30%) HP:0009906

GenomeRNAi Phenotypes related to Hutchinson-Gilford Progeria Syndrome according to GeneCards Suite gene sharing:

26 (show all 32)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-10 9.91 ANK3
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.91 PRKDC
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.91 ROCK1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.91 PRKDC
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.91 ROCK1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.91 GGT1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.91 GGT1 ROCK1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.91 GGT1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.91 ANK3 GGT1 PRKDC ROCK1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.91 ROCK1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.91 ANK3 GGT1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.91 PRKDC
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.91 GGT1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.64 RAN
15 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.64 LMNB1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.64 RAN
17 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.64 RAN
18 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.64 RAN
19 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.64 RAN
20 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.64 RAN
21 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.64 RAN
22 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.64 LMNB1 RAC1 RAN
23 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.64 LMNB1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.64 RAN
25 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.64 RAN
26 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.64 RAC1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.64 RAN
28 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.64 RAN
29 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.64 RAN
30 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.64 RAN
31 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.64 LMNB1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.64 LMNB1

MGI Mouse Phenotypes related to Hutchinson-Gilford Progeria Syndrome:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.36 ENPP1 GGT1 H2AFX LAMA1 LMNA LMNB1
2 cellular MP:0005384 10.35 ENPP1 GGT1 H2AFX LAMA1 LMNA LMNB1
3 behavior/neurological MP:0005386 10.26 ANK3 ENPP1 GGT1 LAMA1 LMNA PRKDC
4 homeostasis/metabolism MP:0005376 10.26 ENPP1 GGT1 H2AFX LMNA LMNB1 PRKDC
5 hematopoietic system MP:0005397 10.24 GGT1 H2AFX LMNA LMNB1 PRKDC RAC1
6 mortality/aging MP:0010768 10.21 ANK3 ENPP1 GGT1 H2AFX LAMA1 LMNA
7 cardiovascular system MP:0005385 10.2 ENPP1 H2AFX LAMA1 LMNA RAC1 ROCK1
8 immune system MP:0005387 10.16 ENPP1 GGT1 H2AFX LMNA PRKDC RAC1
9 craniofacial MP:0005382 10.13 LMNA LMNB1 PRKDC RAC1 RFC1 TWIST2
10 integument MP:0010771 10.13 ENPP1 GGT1 LMNA LMNB1 PRKDC RAC1
11 adipose tissue MP:0005375 10.11 ENPP1 LMNA PRKDC ROCK1 TWIST2 WRN
12 nervous system MP:0003631 9.96 ANK3 ENPP1 LAMA1 LMNA LMNB1 PRKDC
13 limbs/digits/tail MP:0005371 9.95 ENPP1 GGT1 LMNA RAC1 TWIST2 WRN
14 muscle MP:0005369 9.92 ENPP1 LMNA LMNB1 PRKDC RAC1 ROCK1
15 renal/urinary system MP:0005367 9.7 ANK3 ENPP1 GGT1 LMNA PRKDC ROCK1
16 skeleton MP:0005390 9.65 ENPP1 GGT1 LMNA LMNB1 PRKDC ROCK1
17 vision/eye MP:0005391 9.28 ENPP1 GGT1 H2AFX LAMA1 LMNA PRKDC

Drugs & Therapeutics for Hutchinson-Gilford Progeria Syndrome

Drugs for Hutchinson-Gilford Progeria Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zoledronic acid Approved Phase 2 118072-93-8 68740
2
Pravastatin Approved Phase 2 81093-37-0 54687
3
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
4
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
5
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 46835353 6436030 5284616
6
Lonafarnib Investigational Phase 2,Phase 1 193275-84-2 148195
7
s 1 (combination) Phase 2
8 Pharmaceutical Solutions Phase 2
9 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
10 Bone Density Conservation Agents Phase 2
11 Diphosphonates Phase 2
12 Anticholesteremic Agents Phase 2
13 Lipid Regulating Agents Phase 2
14 Antimetabolites Phase 2
15 Hypolipidemic Agents Phase 2
16 Anti-Infective Agents Phase 1, Phase 2
17 Anti-Bacterial Agents Phase 1, Phase 2
18 Immunosuppressive Agents Phase 1, Phase 2
19 Antifungal Agents Phase 1, Phase 2
20 Antibiotics, Antitubercular Phase 1, Phase 2
21 Immunologic Factors Phase 1, Phase 2
22 Anesthetics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of the Hutchinson-Gilford Progeria Syndrome With a Combination of Pravastatin and Zoledronic Acid Completed NCT00731016 Phase 2 Zoledronic acid, pravastatin
2 A Study of Zoledronic Acid, Pravastatin, and Lonafarnib for Patients With Progeria Completed NCT00879034 Phase 2 Lonafarnib;Zoledronic Acid;Pravastatin
3 Phase II Trial of Lonafarnib (a Farnesyltransferase Inhibitor) for Progeria Completed NCT00425607 Phase 2 Lonafarnib
4 Phase I/II Trial of Everolimus in Combination With Lonafarnib in Progeria Recruiting NCT02579044 Phase 1, Phase 2 Everolimus and lonafarnib
5 Study of Zoledronic Acid, Pravastatin, and Lonafarnib for Patients With Progeria Enrolling by invitation NCT00916747 Phase 2 Lonafarnib, Zoledronic Acid, and Pravastatin
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 Not Applicable
9 The LD Lync Study - Natural History Study of Genetic Lipodystrophy Syndromes Recruiting NCT03087253
10 NUCLEAR LAMINA, OVARIAN AGE AND MEDICAL ASSISTANCE TO PROCREATION Recruiting NCT03686111

Search NIH Clinical Center for Hutchinson-Gilford Progeria Syndrome

Cochrane evidence based reviews: progeria

Genetic Tests for Hutchinson-Gilford Progeria Syndrome

Genetic tests related to Hutchinson-Gilford Progeria Syndrome:

# Genetic test Affiliating Genes
1 Hutchinson-Gilford Syndrome 29 LMNA

Anatomical Context for Hutchinson-Gilford Progeria Syndrome

MalaCards organs/tissues related to Hutchinson-Gilford Progeria Syndrome:

41
Skin, Heart, Eye, Bone, Cortex, Kidney, Pancreas

Publications for Hutchinson-Gilford Progeria Syndrome

Articles related to Hutchinson-Gilford Progeria Syndrome:

(show top 50) (show all 255)
# Title Authors Year
1
Vascular Smooth Muscle-Specific Progerin Expression Accelerates Atherosclerosis and Death in a Mouse Model of Hutchinson-Gilford Progeria Syndrome. ( 29490993 )
2018
2
Cardiac Abnormalities in Patients With Hutchinson-Gilford Progeria Syndrome. ( 29466530 )
2018
3
An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome. ( 29619863 )
2018
4
Microbiome at sites of gingival recession in children with Hutchinson-Gilford progeria syndrome. ( 29520806 )
2018
5
Farnesyltransferase inhibitor and rapamycin correct aberrant genome organisation and decreaseA DNA damage respectively, in Hutchinson-Gilford progeria syndrome fibroblasts. ( 29907918 )
2018
6
Precision Medicine and Progress in the Treatment of Hutchinson-Gilford Progeria Syndrome. ( 29710145 )
2018
7
Left Ventricular Diastolic Dysfunction in Hutchinson-Gilford Progeria Syndrome. ( 29466548 )
2018
8
Abnormal nuclear morphology is independent of longevity in a zmpste24-deficient fish model of Hutchinson-Gilford progeria syndrome (HGPS). ( 29567411 )
2018
9
Differential stem cell aging kinetics in Hutchinson-Gilford progeria syndrome and Werner syndrome. ( 29476423 )
2018
10
Association of Lonafarnib Treatment vs No Treatment With Mortality Rate in Patients With Hutchinson-Gilford Progeria Syndrome. ( 29710166 )
2018
11
Mechanisms of vascular aging: What can we learn from Hutchinson-Gilford progeria syndrome? ( 29602596 )
2018
12
Next-Generation Sequencing and Quantitative Proteomics of Hutchinson-Gilford progeria syndrome-derived cells point to a role of nucleotide metabolism in premature aging. ( 30379953 )
2018
13
Methionine restriction for improving progeria: another autophagy-inducing anti-aging strategy? ( 30304972 )
2018
14
Disrupting the LINC complex in smooth muscle cells reduces aortic disease in a mouse model of Hutchinson-Gilford progeria syndrome. ( 30257952 )
2018
15
Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes. ( 29904107 )
2018
16
Erythrocyte Senescence in a Model of Rat Displaying Hutchinson-Gilford Progeria Syndrome. ( 30003010 )
2018
17
EFFECTIVE PAIN CONTROL IN HUTCHINSON-GILFORD PROGERIA SYNDROME. ( 30013813 )
2018
18
Cellular stress and AMPK activation as a common mechanism of action linking the effects of metformin and diverse compounds that alleviate accelerated aging defects in Hutchinson-Gilford progeria syndrome. ( 30037605 )
2018
19
Electrocardiographic Abnormalities in Patients With Hutchinson-Gilford Progeria Syndrome. ( 30046820 )
2018
20
Electrocardiographic Abnormalities in Patients With Hutchinson-Gilford Progeria Syndrome-Reply. ( 30046839 )
2018
21
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies. ( 30048243 )
2018
22
Epigenetic clocks galore: a new improved clock predicts age-acceleration in Hutchinson Gilford Progeria Syndrome patients. ( 30130743 )
2018
23
BK channel overexpression on plasma membrane of fibroblasts from Hutchinson-Gilford progeria syndrome. ( 30398975 )
2018
24
Telomere elongation through hTERT immortalisation leads to chromosome repositioning in control cells and genomic instability in Hutchinson-Gilford Progeria syndrome fibroblasts, expressing a novel SUN1 isoform. ( 30474255 )
2018
25
Modeling Alzheimer's disease in progeria mice. An age-related concept. ( 30319737 )
2018
26
Permanently Farnesylated Prelamin A, Progeria, and Atherosclerosis. ( 30012702 )
2018
27
Doubled lifespan and patient-like pathologies in progeria mice fed high-fat diet. ( 30548460 )
2018
28
Pubertal Progression in Female Adolescents with Progeria. ( 29258958 )
2018
29
Survey of plasma proteins in children with progeria pre-therapy and on-therapy with lonafarnib. ( 29342131 )
2018
30
Nucleoplasmic lamins define growth-regulating functions of lamina-associated polypeptide 2α in progeria cells. ( 29361532 )
2018
31
Progeria: case report and new drugs perspectives. ( 29377371 )
2018
32
Dual role for LAP2α in progeria cell proliferation. ( 29439159 )
2018
33
Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria. ( 29572490 )
2018
34
Boosting ATM activity alleviates aging and extends lifespan in a mouse model of progeria. ( 29717979 )
2018
35
Diminished Canonical β-Catenin Signaling During Osteoblast Differentiation Contributes to Osteopenia in Progeria. ( 30001457 )
2018
36
Increased transport of acetyl-CoA into the endoplasmic reticulum causes a progeria-like phenotype. ( 30051577 )
2018
37
Assessment of the Aging of the Brown Adipose Tissue by 18F-FDG PET/CT Imaging in the Progeria Mouse Model Lmna-/. ( 30116163 )
2018
38
Expression of the Hutchinson-Gilford Progeria Mutation Leads to Aberrant Dentin Formation. ( 30337599 )
2018
39
A Tissue Engineered Blood Vessel Model of Hutchinson-Gilford Progeria Syndrome Using Human iPSC-derived Smooth Muscle Cells. ( 28811655 )
2017
40
Progerin-Induced Replication Stress Facilitates Premature Senescence in Hutchinson Gilford Progeria Syndrome. ( 28483909 )
2017
41
The clinical characteristics of Asian patients with classical-type Hutchinson-Gilford progeria syndrome. ( 28878338 )
2017
42
Metformin alleviates ageing cellular phenotypes in Hutchinson-Gilford progeria syndrome dermal fibroblasts. ( 28192606 )
2017
43
Chemical screening identifies ROCK as a target for recovering mitochondrial function in Hutchinson-Gilford progeria syndrome. ( 28317242 )
2017
44
Aging in the Cardiovascular System: Lessons from Hutchinson-Gilford Progeria Syndrome. ( 28934587 )
2017
45
Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease. ( 28660486 )
2017
46
Redox imbalance in a model of rat mimicking Hutchinson-Gilford progeria syndrome. ( 28728841 )
2017
47
Emerging candidate treatment strategies for Hutchinson-Gilford progeria syndrome. ( 29127216 )
2017
48
CDKN2A/p16INK4a expression is associated with vascular progeria in chronic kidney disease. ( 28192277 )
2017
49
Biomechanical Strain Exacerbates Inflammation on a Progeria-on-a-Chip Model. ( 28211642 )
2017
50
Progeria of the Heart in Type 1 Diabetic Children? ( 28400928 )
2017

Variations for Hutchinson-Gilford Progeria Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Hutchinson-Gilford Progeria Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 LMNA p.Leu140Arg VAR_017658 rs60652225
2 LMNA p.Glu145Lys VAR_017659 rs60310264
3 LMNA p.Arg471Cys VAR_017662 rs28928902
4 LMNA p.Arg527Cys VAR_017663 rs57318642
5 LMNA p.Gly608Ser VAR_017664 rs61064130
6 LMNA p.Ser143Phe VAR_034707 rs58912633
7 LMNA p.Lys542Asn VAR_034710 rs56673169
8 LMNA p.Arg644Cys VAR_039792 rs142000963
9 LMNA p.Glu138Lys VAR_070175 rs267607649
10 LMNA p.Asp300Gly VAR_070178 rs79907212

ClinVar genetic disease variations for Hutchinson-Gilford Progeria Syndrome:

6 (show top 50) (show all 100)
# 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.1579C> T (p.Arg527Cys) single nucleotide variant Pathogenic rs57318642 GRCh38 Chromosome 1, 156137203: 156137203
3 LMNA NM_170707.3(LMNA): c.1824C> T (p.Gly608=) single nucleotide variant Pathogenic rs58596362 GRCh37 Chromosome 1, 156108404: 156108404
4 LMNA NM_170707.3(LMNA): c.1824C> T (p.Gly608=) single nucleotide variant Pathogenic rs58596362 GRCh38 Chromosome 1, 156138613: 156138613
5 LMNA NM_170707.3(LMNA): c.1822G> A (p.Gly608Ser) single nucleotide variant Pathogenic rs61064130 GRCh37 Chromosome 1, 156108402: 156108402
6 LMNA NM_170707.3(LMNA): c.1822G> A (p.Gly608Ser) single nucleotide variant Pathogenic rs61064130 GRCh38 Chromosome 1, 156138611: 156138611
7 LMNA NM_170707.3(LMNA): c.433G> A (p.Glu145Lys) single nucleotide variant Pathogenic rs60310264 GRCh37 Chromosome 1, 156100484: 156100484
8 LMNA NM_170707.3(LMNA): c.433G> A (p.Glu145Lys) single nucleotide variant Pathogenic rs60310264 GRCh38 Chromosome 1, 156130693: 156130693
9 LMNA NM_170707.3(LMNA): c.1821G> A (p.Val607=) single nucleotide variant Pathogenic rs59886214 GRCh37 Chromosome 1, 156108401: 156108401
10 LMNA NM_170707.3(LMNA): c.1821G> A (p.Val607=) single nucleotide variant Pathogenic rs59886214 GRCh38 Chromosome 1, 156138610: 156138610
11 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh37 Chromosome 1, 156105758: 156105758
12 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh38 Chromosome 1, 156135967: 156135967
13 LMNA NM_005572.3(LMNA): c.51C> T (p.Ser17=) single nucleotide variant Benign/Likely benign rs11549668 GRCh37 Chromosome 1, 156084760: 156084760
14 LMNA NM_005572.3(LMNA): c.51C> T (p.Ser17=) single nucleotide variant Benign/Likely benign rs11549668 GRCh38 Chromosome 1, 156114969: 156114969
15 LMNA NM_170707.3(LMNA): c.810+13G> T single nucleotide variant Benign rs11264444 GRCh37 Chromosome 1, 156104779: 156104779
16 LMNA NM_170707.3(LMNA): c.810+13G> T single nucleotide variant Benign rs11264444 GRCh38 Chromosome 1, 156134988: 156134988
17 LMNA NM_005572.3(LMNA): c.1338T> C (p.Asp446=) single nucleotide variant Benign rs505058 GRCh37 Chromosome 1, 156106185: 156106185
18 LMNA NM_005572.3(LMNA): c.1338T> C (p.Asp446=) single nucleotide variant Benign rs505058 GRCh38 Chromosome 1, 156136394: 156136394
19 LMNA NM_170707.3(LMNA): c.1566C> T (p.Cys522=) single nucleotide variant Conflicting interpretations of pathogenicity rs149339264 GRCh37 Chromosome 1, 156106981: 156106981
20 LMNA NM_170707.3(LMNA): c.1566C> T (p.Cys522=) single nucleotide variant Conflicting interpretations of pathogenicity rs149339264 GRCh38 Chromosome 1, 156137190: 156137190
21 LMNA NM_005572.3(LMNA): c.1584G> A (p.Thr528=) single nucleotide variant Benign/Likely benign rs80356812 GRCh37 Chromosome 1, 156106999: 156106999
22 LMNA NM_005572.3(LMNA): c.1584G> A (p.Thr528=) single nucleotide variant Benign/Likely benign rs80356812 GRCh38 Chromosome 1, 156137208: 156137208
23 LMNA NM_005572.3(LMNA): c.1698C> T (p.His566=) single nucleotide variant Benign rs4641 GRCh37 Chromosome 1, 156107534: 156107534
24 LMNA NM_005572.3(LMNA): c.1698C> T (p.His566=) single nucleotide variant Benign rs4641 GRCh38 Chromosome 1, 156137743: 156137743
25 LMNA NM_170707.3(LMNA): c.612G> A (p.Leu204=) single nucleotide variant Benign/Likely benign rs12117552 GRCh37 Chromosome 1, 156104292: 156104292
26 LMNA NM_170707.3(LMNA): c.612G> A (p.Leu204=) single nucleotide variant Benign/Likely benign rs12117552 GRCh38 Chromosome 1, 156134501: 156134501
27 LMNA NM_170707.3(LMNA): c.811-13T> A single nucleotide variant Benign/Likely benign rs80356809 GRCh37 Chromosome 1, 156104965: 156104965
28 LMNA NM_170707.3(LMNA): c.811-13T> A single nucleotide variant Benign/Likely benign rs80356809 GRCh38 Chromosome 1, 156135174: 156135174
29 LMNA NM_005572.3(LMNA): c.861T> C (p.Ala287=) single nucleotide variant Benign rs538089 GRCh37 Chromosome 1, 156105028: 156105028
30 LMNA NM_005572.3(LMNA): c.861T> C (p.Ala287=) single nucleotide variant Benign rs538089 GRCh38 Chromosome 1, 156135237: 156135237
31 LMNA NM_170707.3(LMNA): c.1149G> A (p.Glu383=) single nucleotide variant Conflicting interpretations of pathogenicity rs267607603 GRCh37 Chromosome 1, 156105904: 156105904
32 LMNA NM_170707.3(LMNA): c.1149G> A (p.Glu383=) single nucleotide variant Conflicting interpretations of pathogenicity rs267607603 GRCh38 Chromosome 1, 156136113: 156136113
33 LMNA NM_170707.3(LMNA): c.1303C> T (p.Arg435Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150840924 GRCh37 Chromosome 1, 156106150: 156106150
34 LMNA NM_170707.3(LMNA): c.1303C> T (p.Arg435Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150840924 GRCh38 Chromosome 1, 156136359: 156136359
35 LMNA NM_170707.3(LMNA): c.1619T> C (p.Met540Thr) single nucleotide variant Pathogenic rs267607547 GRCh37 Chromosome 1, 156107455: 156107455
36 LMNA NM_170707.3(LMNA): c.1619T> C (p.Met540Thr) single nucleotide variant Pathogenic rs267607547 GRCh38 Chromosome 1, 156137664: 156137664
37 LMNA NM_170707.3(LMNA): c.1868C> G (p.Thr623Ser) single nucleotide variant Pathogenic rs59267781 GRCh37 Chromosome 1, 156108448: 156108448
38 LMNA NM_170707.3(LMNA): c.1868C> G (p.Thr623Ser) single nucleotide variant Pathogenic rs59267781 GRCh38 Chromosome 1, 156138657: 156138657
39 LMNA NM_170707.3(LMNA): c.1968+1G> A single nucleotide variant Pathogenic rs113436208 GRCh37 Chromosome 1, 156108549: 156108549
40 LMNA NM_170707.3(LMNA): c.1968+1G> A single nucleotide variant Pathogenic rs113436208 GRCh38 Chromosome 1, 156138758: 156138758
41 LMNA NM_170707.3(LMNA): c.1968+1G> C single nucleotide variant Pathogenic rs113436208 GRCh38 Chromosome 1, 156138758: 156138758
42 LMNA NM_170707.3(LMNA): c.667G> A (p.Glu223Lys) single nucleotide variant Pathogenic rs797044485 GRCh38 Chromosome 1, 156134832: 156134832
43 LMNA NM_170707.3(LMNA): c.667G> A (p.Glu223Lys) single nucleotide variant Pathogenic rs797044485 GRCh37 Chromosome 1, 156104623: 156104623
44 LMNA NM_170707.3(LMNA): c.1699_1968del270 (p.Gly567_Gln656del) deletion Pathogenic GRCh38 Chromosome 1, 156138488: 156138757
45 LMNA NM_170707.3(LMNA): c.1699_1968del270 (p.Gly567_Gln656del) deletion Pathogenic GRCh37 Chromosome 1, 156108279: 156108548
46 LMNA NM_170707.3(LMNA): c.1771T> A (p.Cys591Ser) single nucleotide variant Pathogenic rs797044486 GRCh38 Chromosome 1, 156138560: 156138560
47 LMNA NM_170707.3(LMNA): c.1771T> A (p.Cys591Ser) single nucleotide variant Pathogenic rs797044486 GRCh37 Chromosome 1, 156108351: 156108351
48 LMNA NM_170707.3(LMNA): c.1968G> A (p.Gln656=) single nucleotide variant Pathogenic rs797044487 GRCh38 Chromosome 1, 156138757: 156138757
49 LMNA NM_170707.3(LMNA): c.1968G> A (p.Gln656=) single nucleotide variant Pathogenic rs797044487 GRCh37 Chromosome 1, 156108548: 156108548
50 LMNA NM_170707.3(LMNA): c.1968+1G> C single nucleotide variant Pathogenic rs113436208 GRCh37 Chromosome 1, 156108549: 156108549

Expression for Hutchinson-Gilford Progeria Syndrome

Search GEO for disease gene expression data for Hutchinson-Gilford Progeria Syndrome.

Pathways for Hutchinson-Gilford Progeria Syndrome

GO Terms for Hutchinson-Gilford Progeria Syndrome

Cellular components related to Hutchinson-Gilford Progeria Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear envelope GO:0005635 9.26 LMNA LMNB1 RAN ZMPSTE24
2 male germ cell nucleus GO:0001673 9.16 H2AFX RAN
3 lamin filament GO:0005638 8.62 LMNA LMNB1

Biological processes related to Hutchinson-Gilford Progeria Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.72 H2AFX PRKDC UBA7 WRN ZMPSTE24
2 DNA recombination GO:0006310 9.63 H2AFX PRKDC WRN
3 regulation of cell migration GO:0030334 9.54 LAMA1 LMNA RAC1
4 nuclear envelope organization GO:0006998 9.48 LMNA ZMPSTE24
5 regulation of stress fiber assembly GO:0051492 9.43 RAC1 ROCK1
6 double-strand break repair GO:0006302 9.43 H2AFX PRKDC WRN
7 determination of adult lifespan GO:0008340 9.4 WRN ZMPSTE24
8 DNA repair GO:0006281 9.35 H2AFX PRKDC RFC1 WRN ZMPSTE24
9 protein localization to nucleolus GO:1902570 9.16 RAN WRN
10 cellular response to gamma radiation GO:0071480 8.8 H2AFX WRN ZMPSTE24

Molecular functions related to Hutchinson-Gilford Progeria Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.6 ACAN ANK3 ELN ENPP1 GGT1 H2AFX
2 ATP binding GO:0005524 9.5 ENPP1 PRKDC RFC1 ROCK1 SPG7 UBA7
3 extracellular matrix structural constituent GO:0005201 9.33 ACAN ELN LAMA1

Sources for Hutchinson-Gilford Progeria Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
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44 MeSH
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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