HGPS
MCID: HTC003
MIFTS: 65

Hutchinson-Gilford Progeria Syndrome (HGPS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hutchinson-Gilford Progeria Syndrome

MalaCards integrated aliases for Hutchinson-Gilford Progeria Syndrome:

Name: Hutchinson-Gilford Progeria Syndrome 57 12 74 25 43 58 73 36
Progeria 57 12 74 20 43 58 54 44 15 71
Hgps 57 12 20 43 58 73
Hutchinson-Gilford Syndrome 43 29 6
Hutchinson-Gilford Progeria 57 13
Hutchinson Gilford Syndrome 12 20
Syndrome, Hutchinson-Gilford Progeria 39
Hutchinson-Gilford-Progeria Syndrome 74
Hutchinson Gilford Progeria Syndrome 20
Hutchinson-Gilford Disease 12
Progeria of Childhood 43

Characteristics:

Orphanet epidemiological data:

58
hutchinson-gilford progeria syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
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:

31
hutchinson-gilford progeria syndrome:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


GeneReviews:

25
Penetrance Penetrance is complete.

Classifications:

Orphanet: 58  
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


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) (Updated 05-Mar-2021)

MalaCards based summary : Hutchinson-Gilford Progeria Syndrome, also known as progeria, is related to premature aging and progeroid syndrome. An important gene associated with Hutchinson-Gilford Progeria Syndrome is LMNA (Lamin A/C), and among its related pathways/superpathways are Mitotic Prophase and Cytoskeletal Signaling. The drugs Clotrimazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and bone, and related phenotypes are micrognathia and narrow mouth

Disease Ontology : 12 A syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has material basis in mutation in LMNA on chromosome 1q22.

MedlinePlus Genetics : 43 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.People with Hutchinson-Gilford progeria syndrome experience severe hardening of the arteries (arteriosclerosis) beginning in childhood. This condition greatly increases the chances of having a heart attack or stroke at a young age. These serious complications can worsen over time and are life-threatening for affected individuals.

GARD : 20 Progeria leads to extreme premature aging and affects many different body systems. The symptoms begin within a year of life with poor growth and weight gain. Children with progeria have a characteristic facial appearance with a large head, small mouth and chin, narrow nose and large eyes. Other symptoms include baldness, loss of fat under the skin, and dental and joint abnormalities. They also often have symptoms typically seen in much older people including joint stiffness, hip dislocations and severe, progressive heart disease. Intelligence is typically normal. Most people with progeria die in their teens from a heart attack or stroke. Progeria is caused by a genetic variant in the LMNA gene. This variant usually arises as a new change in the genetic material and is not inherited from a parent. Diagnosis is based on the symptoms, clinical exam, and may be confirmed by the results of genetic testing. Treatment is focused on managing the symptoms. A new treatment is available that may help people with progeria live longer.

KEGG : 36 Hutchinson-Gilford progeria syndrome (HGPS) is a rare hereditary disorder characterized by premature aging. Children born with HGPS begin to develop micrognathia, alopecia, prominent scalp vein, and wrinkled, aged-looking skin within the first year of life. Severe premature atherosclerosis can cause the death at an average age of 13.5 years. Mutations in lamin A/C, an important structural component of the nuclear envelope, have been reported.

UniProtKB/Swiss-Prot : 73 Hutchinson-Gilford progeria syndrome: Rare genetic disorder characterized by features reminiscent of marked premature aging.

Wikipedia : 74 Progeria is a specific type of progeroid syndrome called Hutchinson-Gilford syndrome. Progeroid... 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 236)
# Related Disease Score Top Affiliating Genes
1 premature aging 33.0 WRN LMNA
2 progeroid syndrome 32.9 WRN LMNA ERCC4
3 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 31.6 ZMPSTE24 LMNA ADIPOQ
4 laminopathy 31.6 ZMPSTE24 LMNA EMD
5 acroosteolysis 31.3 ZMPSTE24 LMNA
6 calcinosis 31.2 ZMPSTE24 LMNA ENPP1
7 emery-dreifuss muscular dystrophy 31.1 ZMPSTE24 LMNB1 LMNA EMD
8 werner syndrome 31.1 WRN PRKDC LMNA
9 mandibuloacral dysplasia with type a lipodystrophy 31.0 ZMPSTE24 LMNA
10 xeroderma pigmentosum, variant type 31.0 WRN PRKDC H2AX ERCC6 ERCC4
11 skin atrophy 31.0 ZMPSTE24 WRN LMNA ERCC6
12 lipodystrophy, familial partial, type 2 30.4 ZMPSTE24 LMNA ADIPOQ
13 muscular dystrophy, congenital, lmna-related 30.4 ZMPSTE24 LMNB1 LMNA EMD
14 emery-dreifuss muscular dystrophy 3, autosomal recessive 30.3 ZMPSTE24 LMNA EMD
15 cardiomyopathy, dilated, 1a 30.3 ZMPSTE24 LMNB1 LMNA EMD
16 peripheral nervous system disease 30.3 SPG7 MIR9-1 LMNA ERCC6 CYCS
17 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 30.2 ZMPSTE24 LMNA ERCC6
18 xfe progeroid syndrome 30.1 WRN ERCC6 ERCC4
19 nestor-guillermo progeria syndrome 11.7
20 atypical werner syndrome 11.4
21 cockayne syndrome 11.2
22 progeroid short stature with pigmented nevi 11.1
23 cutis laxa, autosomal recessive, type iiia 11.0
24 autosomal recessive cutis laxa type iii 11.0
25 lmna-related cardiocutaneous progeria syndrome 10.9
26 alopecia 10.9
27 clark-baraitser syndrome 10.9
28 aging 10.9
29 wiedemann-rautenstrauch syndrome 10.9
30 cockayne syndrome a 10.9
31 cockayne syndrome b 10.8
32 cutis laxa, autosomal recessive, type iia 10.8
33 xeroderma pigmentosum, complementation group f 10.8
34 dyskeratosis congenita 10.8
35 cockayne syndrome type iii 10.8
36 systemic scleroderma 10.8
37 restrictive dermopathy, lethal 10.6
38 arterial calcification, generalized, of infancy, 1 10.6
39 cerebrovascular disease 10.6
40 atherosclerosis susceptibility 10.6
41 bone disease 10.6
42 arteriosclerosis 10.6
43 myocardial infarction 10.5
44 cyanosis, transient neonatal 10.5
45 aortic valve disease 2 10.5
46 vascular disease 10.5
47 avascular necrosis 10.5
48 reynolds syndrome 10.5 ZMPSTE24 LMNB1 LMNA
49 emerinopathy 10.5 LMNA EMD
50 acquired generalized lipodystrophy 10.5 ZMPSTE24 LMNA ADIPOQ

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

Human phenotypes related to Hutchinson-Gilford Progeria Syndrome:

58 31 (show top 50) (show all 102)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
2 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
3 conductive hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000405
4 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
5 thin vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0000233
6 premature skin wrinkling 58 31 hallmark (90%) Very frequent (99-80%) HP:0100678
7 absence of subcutaneous fat 58 31 hallmark (90%) Very frequent (99-80%) HP:0007485
8 prominent superficial blood vessels 58 31 hallmark (90%) Very frequent (99-80%) HP:0007394
9 severe failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001525
10 prominent umbilicus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001544
11 pubertal developmental failure in females 58 31 hallmark (90%) Very frequent (99-80%) HP:0008647
12 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
13 retrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000278
14 hip dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0002827
15 high pitched voice 58 31 frequent (33%) Frequent (79-30%) HP:0001620
16 coxa valga 58 31 frequent (33%) Frequent (79-30%) HP:0002673
17 lack of skin elasticity 58 31 frequent (33%) Frequent (79-30%) HP:0100679
18 dystrophic toenail 58 31 frequent (33%) Frequent (79-30%) HP:0001810
19 atherosclerosis 58 31 frequent (33%) Frequent (79-30%) HP:0002621
20 dystrophic fingernails 58 31 frequent (33%) Frequent (79-30%) HP:0008391
21 relative macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0004482
22 insulin resistance 58 31 frequent (33%) Frequent (79-30%) HP:0000855
23 exertional dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0002875
24 alopecia totalis 58 31 frequent (33%) Frequent (79-30%) HP:0007418
25 hypoplastic male external genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0000050
26 ankyloglossia 58 31 frequent (33%) Frequent (79-30%) HP:0010296
27 patchy alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0002232
28 short lingual frenulum 58 31 frequent (33%) Frequent (79-30%) HP:0000200
29 female hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000134
30 shallow orbits 58 31 frequent (33%) Frequent (79-30%) HP:0000586
31 decreased serum leptin 58 31 frequent (33%) Frequent (79-30%) HP:0003292
32 narrow nasal tip 58 31 frequent (33%) Frequent (79-30%) HP:0011832
33 shuffling gait 58 31 frequent (33%) Frequent (79-30%) HP:0002362
34 delayed menarche 58 31 frequent (33%) Frequent (79-30%) HP:0012569
35 narrow nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000418
36 craniofacial disproportion 58 31 frequent (33%) Frequent (79-30%) HP:0005461
37 left ventricular diastolic dysfunction 58 31 frequent (33%) Frequent (79-30%) HP:0025168
38 low-frequency sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0008573
39 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
40 corneal opacity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007957
41 avascular necrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0010885
42 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
43 reduced bone mineral density 58 31 occasional (7.5%) Occasional (29-5%) HP:0004349
44 myocardial infarction 58 31 occasional (7.5%) Occasional (29-5%) HP:0001658
45 mitral regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001653
46 transient ischemic attack 58 31 occasional (7.5%) Occasional (29-5%) HP:0002326
47 dental crowding 58 31 occasional (7.5%) Occasional (29-5%) HP:0000678
48 mitral valve calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0004382
49 delayed eruption of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000684
50 hypodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000668

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Cardiovascular Heart:
congestive heart failure
myocardial infarction
angina pectoris

Skin Nails Hair Hair:
alopecia

Growth Other:
postnatal onset growth retardation

Skeletal:
generalized osteoporosis with pathologic fractures

Head And Neck Face:
micrognathia
midface hypoplasia

Skin Nails Hair Skin:
absence of subcutaneous fat

Cardiovascular Vascular:
premature atherosclerosis
premature coronary artery disease

Clinical features from OMIM®:

176670 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Hutchinson-Gilford Progeria Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.18 ADIPOQ CYCS EMD ENPP1 ERCC4 ERCC6
2 homeostasis/metabolism MP:0005376 10.13 ADIPOQ EMD ENPP1 ERCC4 ERCC6 H2AX
3 mortality/aging MP:0010768 10 ADIPOQ ANK3 CYCS ENPP1 ERCC4 ERCC6
4 adipose tissue MP:0005375 9.98 ADIPOQ ENPP1 ERCC6 LMNA PRKDC WRN
5 craniofacial MP:0005382 9.91 CYCS ENPP1 LMNA LMNB1 PRKDC WRN
6 liver/biliary system MP:0005370 9.8 ADIPOQ ENPP1 ERCC4 ERCC6 LMNA PRKDC
7 muscle MP:0005369 9.56 ADIPOQ EMD ENPP1 ERCC6 LMNA LMNB1
8 skeleton MP:0005390 9.32 ADIPOQ CYCS ENPP1 ERCC6 LMNA LMNB1

Drugs & Therapeutics for Hutchinson-Gilford Progeria Syndrome

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

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
2
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030
4
Lonafarnib Approved, Investigational Phase 2 193275-84-2 148195
5
Pravastatin Approved Phase 2 81093-37-0 54687
6
Zoledronic Acid Approved Phase 2 118072-93-8 68740
7
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177 70789204
8 Pharmaceutical Solutions Phase 2
9 Antifungal Agents Phase 1, Phase 2
10 Antibiotics, Antitubercular Phase 1, Phase 2
11 Anti-Infective Agents Phase 1, Phase 2
12 Anti-Bacterial Agents Phase 1, Phase 2
13 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
14 Antimetabolites Phase 2
15 Lipid Regulating Agents Phase 2
16 Hypolipidemic Agents Phase 2
17 Anticholesteremic Agents Phase 2
18 Immunosuppressive Agents Phase 1, Phase 2
19 Immunologic Factors Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open Label Dose Adjusted Phase II Trial of the Oral Farnesyltransferase Inhibitor (FTI) Lonafarnib (SCH66336) for Patients With Hutchinson-Gilford Progeria Syndrome (HGPS) and Progeroid Laminopathies Completed NCT00425607 Phase 2 Lonafarnib
2 A Phase II Pilot Study of Zoledronic Acid, Pravastatin, and Lonafarnib (SCH66336) for Patients With Hutchinson-Gilford Progeria Syndrome (HGPS) and Progeroid Laminopathies Completed NCT00879034 Phase 2 Lonafarnib;Zoledronic Acid;Pravastatin
3 Treatment of the Hutchinson-Gilford Progeria Syndrome With a Combination of Pravastatin and Zoledronic Acid Completed NCT00731016 Phase 2 Zoledronic acid, pravastatin
4 Safety and Efficacy of Umbilical Cord Blood Transfusion in Patients With Hutchinson-Gilford Progeria Syndrome Completed NCT03871972 Phase 1, Phase 2 Umbilical Cord Blood Unit
5 An Open Label Phase II Trial of Zoledronic Acid, Pravastatin, and Lonafarnib for Patients With Hutchinson-Gilford Progeria Syndrome(HGPS) and Progeroid Laminopathies Enrolling by invitation NCT00916747 Phase 2 Lonafarnib, Zoledronic Acid, and Pravastatin
6 Phase I/II Trial of Everolimus in Combination With Lonafarnib in Progeria Enrolling by invitation NCT02579044 Phase 1, Phase 2 Everolimus and lonafarnib
7 A Phase I, Randomized, Double-Blind, Placebo-Controlled, Single Ascending Dose (SAD) Study Including a Food Interaction Study, Followed by a Multiple Ascending Dose (MAD) Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamic Profile of Progerinin in Healthy Volunteers Recruiting NCT04512963 Phase 1 Progerinin;Placebo
8 Increased Gluconeogenesis is One Cause of CFRD Completed NCT00082238
9 Clinical Investigations Into Hutchison-Gilford Progeria Syndrome Completed NCT00094393
10 A Treatment IND (Investigational New Drug) Protocol for EAP (Expanded Access Program) for the Use of Lonafarnib in Patients With Hutchinson-Gilford Progeria Syndrome (HGPS) or Progeroid Laminopathy Available NCT03895528 Lonafarnib

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:

40
Heart, Skin, Bone, Smooth Muscle, Endothelial, Brain, Liver

Publications for Hutchinson-Gilford Progeria Syndrome

Articles related to Hutchinson-Gilford Progeria Syndrome:

(show top 50) (show all 1526)
# Title Authors PMID Year
1
Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes. 6 57 25 54 61
17469202 2007
2
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). 54 61 6 25 57
12768443 2003
3
Truncated prelamin A expression in HGPS-like patients: a transcriptional study. 57 6 25 61
25649378 2015
4
Somatic and gonadal mosaicism in Hutchinson-Gilford progeria. 57 25 6 61
15793835 2005
5
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. 61 6 25 57
12714972 2003
6
Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition. 57 54 61 6
16126733 2005
7
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. 25 57 6
15317753 2004
8
Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. 6 57 61
15184648 2004
9
A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome. 61 57 25
27920058 2017
10
Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A. 25 57 61
22065502 2011
11
Hutchinson-Gilford progeria syndrome: review of the phenotype. 57 25 61
16838330 2006
12
LMNA mutations in atypical Werner's syndrome. 57 6
12927431 2003
13
Lamin a truncation in Hutchinson-Gilford progeria. 25 57 61
12702809 2003
14
Increased expression of the Hutchinson-Gilford progeria syndrome truncated lamin A transcript during cell aging. 6 61 54
19172989 2009
15
Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation. 54 57 61
19283854 2009
16
Reversible phenotype in a mouse model of Hutchinson-Gilford progeria syndrome. 57 61 54
18708427 2008
17
Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation. 54 61 57
16825282 2006
18
Distinct structural and mechanical properties of the nuclear lamina in Hutchinson-Gilford progeria syndrome. 61 54 57
16801550 2006
19
Inhibiting farnesylation reverses the nuclear morphology defect in a HeLa cell model for Hutchinson-Gilford progeria syndrome. 54 61 57
16186497 2005
20
Paternal origin of LMNA mutations in Hutchinson-Gilford progeria. 61 54 6
15032975 2004
21
Chemical inhibition of NAT10 corrects defects of laminopathic cells. 61 57
24786082 2014
22
LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset. 61 57
23666920 2013
23
Correlated alterations in genome organization, histone methylation, and DNA-lamin A/C interactions in Hutchinson-Gilford progeria syndrome. 57 61
23152449 2013
24
Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells. 61 57
21715679 2011
25
Recapitulation of premature ageing with iPSCs from Hutchinson-Gilford progeria syndrome. 61 57
21346760 2011
26
Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging. 57 61
18587406 2008
27
Phenotype and course of Hutchinson-Gilford progeria syndrome. 61 57
18256394 2008
28
A farnesyltransferase inhibitor improves disease phenotypes in mice with a Hutchinson-Gilford progeria syndrome mutation. 61 57
16862216 2006
29
Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging. 6 61
16738054 2006
30
A protein farnesyltransferase inhibitor ameliorates disease in a mouse model of progeria. 61 57
16484451 2006
31
Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson-Gilford progeria syndrome. 61 57
16492728 2006
32
Ankyrin G overexpression in Hutchinson-Gilford progeria syndrome fibroblasts identified through biological filtering of expression profiles. 57 61
17033732 2006
33
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. 61 54 25
15622532 2005
34
Lamin A expression levels are unperturbed at the normal and mutant alleles but display partial splice site selection in Hutchinson-Gilford progeria syndrome. 61 6
15342704 2004
35
Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome. 61 57
15286156 2004
36
Drawing the line in progeria syndromes. 57 61
12927424 2003
37
PRELP, collagen, and a theory of Hutchinson-Gilford progeria. 57 61
12437997 2003
38
Del(1)(q23) in a patient with Hutchinson-Gilford progeria. 57 61
12439901 2002
39
Severe bone changes in a case of Hutchinson-Gilford syndrome. 61 57
12381448 2002
40
Hutchinson-Gilford progeria: familial occurrence. 61 57
2389799 1990
41
Hutchinson-Gilford progeria syndrome: report of a Libyan family and evidence of autosomal recessive inheritance. 57 61
2721021 1989
42
Evidence for autosomal recessive inheritance of progeria (Hutchinson Gilford). 57 61
3228132 1988
43
[Neonatal Hutchinson-Gilford progeria with cutaneous sclerodermiform involvement]. 61 57
3579140 1987
44
Hutchinson-Gilford progeria syndrome in a 45-year-old man. 61 57
3728539 1986
45
Decreased sensitivity of old and progeric human fibroblasts to a preparation of factors with insulinlike activity. 57 61
7026617 1981
46
Thermolabile enzymes in progeria and Werner syndrome: evidence contrary to the protein error hypothesis. 57 61
6930821 1980
47
Detection of HLA antigens on progeria syndrome fibroblasts. 57 61
6988117 1980
48
Human mutations affecting aging--a review. 61 57
155763 1979
49
Heat-labile enzymes in circulating erythrocytes of a progeria family. 57 61
655163 1978
50
Progeria: a cell culture study and clinical report of familial incidence. 57 61
319005 1977

Variations for Hutchinson-Gilford Progeria Syndrome

ClinVar genetic disease variations for Hutchinson-Gilford Progeria Syndrome:

6 (show top 50) (show all 93)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LMNA NM_170707.4(LMNA):c.917T>G (p.Leu306Arg) SNV Pathogenic 183362 rs730882262 1:156105084-156105084 1:156135293-156135293
2 LMNA NM_170707.4(LMNA):c.419T>G (p.Leu140Arg) SNV Pathogenic 14507 rs60652225 1:156100470-156100470 1:156130679-156130679
3 LMNA NM_170707.4(LMNA):c.1968+1G>A SNV Pathogenic 66879 rs113436208 1:156108549-156108549 1:156138758-156138758
4 LMNA NM_170707.4(LMNA):c.1968+1G>C SNV Pathogenic 162413 rs113436208 1:156108549-156108549 1:156138758-156138758
5 LMNA NM_170707.4(LMNA):c.1968+2T>A SNV Pathogenic 162414 rs113860699 1:156108550-156108550 1:156138759-156138759
6 LMNA NM_170707.4(LMNA):c.1968+2T>C SNV Pathogenic 162415 rs113860699 1:156108550-156108550 1:156138759-156138759
7 LMNA NM_170707.4(LMNA):c.1968+5G>C SNV Pathogenic 162416 rs797044488 1:156108553-156108553 1:156138762-156138762
8 LMNA NM_170707.4(LMNA):c.1968+5G>A SNV Pathogenic 162417 rs797044488 1:156108553-156108553 1:156138762-156138762
9 LMNA NM_170707.4(LMNA):c.398G>T (p.Arg133Leu) SNV Pathogenic 14488 rs60864230 1:156100449-156100449 1:156130658-156130658
10 LMNA NM_170707.4(LMNA):c.1824C>T (p.Gly608=) SNV Pathogenic 14500 rs58596362 1:156108404-156108404 1:156138613-156138613
11 LMNA NM_170707.4(LMNA):c.1822G>A (p.Gly608Ser) SNV Pathogenic 14501 rs61064130 1:156108402-156108402 1:156138611-156138611
12 LMNA NM_170707.4(LMNA):c.1821G>A (p.Val607=) SNV Pathogenic 14516 rs59886214 1:156108401-156108401 1:156138610-156138610
13 LMNA NM_170707.4(LMNA):c.1824C>T (p.Gly608=) SNV Pathogenic 14500 rs58596362 1:156108404-156108404 1:156138613-156138613
14 LMNA NM_170707.4(LMNA):c.433G>A (p.Glu145Lys) SNV Pathogenic 14502 rs60310264 1:156100484-156100484 1:156130693-156130693
15 LMNA NM_170707.4(LMNA):c.667G>A (p.Glu223Lys) SNV Pathogenic 162409 rs797044485 1:156104623-156104623 1:156134832-156134832
16 LMNA NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) SNV Pathogenic 14487 rs57318642 1:156106994-156106994 1:156137203-156137203
17 LMNA NM_170707.4(LMNA):c.1619T>C (p.Met540Thr) SNV Pathogenic 66858 rs267607547 1:156107455-156107455 1:156137664-156137664
18 LMNA NM_170707.4(LMNA):c.1700_1968+1del Deletion Pathogenic 162410 rs1553266460 1:156108274-156108543 1:156138483-156138752
19 LMNA NM_170707.4(LMNA):c.1771T>A (p.Cys591Ser) SNV Pathogenic 162411 rs797044486 1:156108351-156108351 1:156138560-156138560
20 LMNA NM_170707.4(LMNA):c.1968G>A (p.Gln656=) SNV Pathogenic 162412 rs797044487 1:156108548-156108548 1:156138757-156138757
21 LMNA NM_170707.4(LMNA):c.1868C>G (p.Thr623Ser) SNV Pathogenic 66869 rs59267781 1:156108448-156108448 1:156138657-156138657
22 LMNA NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) SNV Pathogenic 14486 rs11575937 1:156106776-156106776 1:156136985-156136985
23 LMNA NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) SNV Pathogenic 36473 rs386134243 1:156105758-156105758 1:156135967-156135967
24 LMNA NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) SNV Pathogenic 14498 rs59885338 1:156105059-156105059 1:156135268-156135268
25 ERCC4 NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) SNV Likely pathogenic 16580 rs121913049 16:14041848-14041848 16:13947991-13947991
26 ERCC4 NM_005236.3(ERCC4):c.388+1164_792+795del Deletion Likely pathogenic 625138 16:14017229-14022884 16:13923372-13929027
27 LMNA NM_170707.4(LMNA):c.936+2T>C SNV Likely pathogenic 208496 rs797045011 1:156105105-156105105 1:156135314-156135314
28 LMNA NM_170707.4(LMNA):c.1391T>A (p.Met464Lys) SNV Likely pathogenic 561054 rs1281896947 1:156106722-156106722 1:156136931-156136931
29 LMNA NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys) SNV Likely pathogenic 66849 rs57629361 1:156106998-156106998 1:156137207-156137207
30 LMNA NM_170707.4(LMNA):c.1969-2A>T SNV Likely pathogenic 801558 rs1572370360 1:156108869-156108869 1:156139078-156139078
31 LMNA NM_170707.4(LMNA):c.1698+124C>T SNV Uncertain significance 368833 rs1057516022 1:156107658-156107658 1:156137867-156137867
32 LMNA NM_170707.4(LMNA):c.-62C>A SNV Uncertain significance 292832 rs886045361 1:156084648-156084648 1:156114857-156114857
33 LMNA NM_170707.4(LMNA):c.-5C>A SNV Uncertain significance 292833 rs886045362 1:156084705-156084705 1:156114914-156114914
34 LMNA NM_170707.4(LMNA):c.-142C>A SNV Uncertain significance 292827 rs886045358 1:156084568-156084568 1:156114777-156114777
35 LMNA NM_170707.4(LMNA):c.-109G>T SNV Uncertain significance 292830 rs886045360 1:156084601-156084601 1:156114810-156114810
36 LMNA NM_170707.4(LMNA):c.985C>A (p.Arg329Ser) SNV Uncertain significance 292838 rs775159300 1:156105740-156105740 1:156135949-156135949
37 LMNA NM_005572.3(LMNA):c.-225C>A SNV Uncertain significance 292824 rs886045355 1:156084485-156084485 1:156114694-156114694
38 LMNA NM_170707.4(LMNA):c.-183C>A SNV Uncertain significance 292826 rs886045357 1:156084527-156084527 1:156114736-156114736
39 ERCC4 NM_005236.2(ERCC4):c.1488A>T (p.Gln496His) SNV Uncertain significance 134150 rs146601373 16:14029277-14029277 16:13935420-13935420
40 ERCC4 NM_005236.2(ERCC4):c.2579C>A (p.Ala860Asp) SNV Uncertain significance 134138 rs4986933 16:14042032-14042032 16:13948175-13948175
41 LMNA NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) SNV Uncertain significance 66802 rs150840924 1:156106150-156106150 1:156136359-156136359
42 LMNA NM_170707.4(LMNA):c.-138T>C SNV Uncertain significance 292828 rs886045359 1:156084572-156084572 1:156114781-156114781
43 LMNA NM_170707.4(LMNA):c.-44T>A SNV Uncertain significance 873801 1:156084666-156084666 1:156114875-156114875
44 LMNA NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) SNV Uncertain significance 245964 rs200466188 1:156106818-156106818 1:156137027-156137027
45 LMNA NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) SNV Uncertain significance 66797 rs267607606 1:156106090-156106090 1:156136299-156136299
46 LMNA NM_170707.4(LMNA):c.1381-5G>A SNV Uncertain significance 180405 rs730880133 1:156106707-156106707 1:156136916-156136916
47 LMNA NM_170707.4(LMNA):c.1756G>A (p.Val586Met) SNV Uncertain significance 487635 rs758048062 1:156108336-156108336 1:156138545-156138545
48 LMNA NM_170707.4(LMNA):c.796A>G (p.Thr266Ala) SNV Uncertain significance 874034 1:156104752-156104752 1:156134961-156134961
49 LMNA NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) SNV Uncertain significance 656550 rs749784223 1:156105782-156105782 1:156135991-156135991
50 LMNA NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) SNV Uncertain significance 200934 rs60864230 1:156100449-156100449 1:156130658-156130658

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

73
# 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

Expression for Hutchinson-Gilford Progeria Syndrome

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

Pathways for Hutchinson-Gilford Progeria Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.43 RAN LMNB1 LMNA H2AX EMD
2 12.22 RAN LMNB1 LMNA EMD
3 12.19 WRN PRKDC LMNA H2AX ERCC4
4
Show member pathways
12.04 PRKDC LMNB1 LMNA ERCC6 ERCC4 CYCS
5
Show member pathways
11.93 PRKDC LMNB1 LMNA CYCS
6
Show member pathways
10.95 LMNB1 LMNA EMD
7 10.69 PRKDC H2AX CYCS
8
Show member pathways
10.65 PRKDC LMNB1 LMNA CYCS

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 inner membrane GO:0005637 9.43 ZMPSTE24 LMNB1 EMD
2 nuclear envelope GO:0005635 9.35 ZMPSTE24 RAN LMNB1 LMNA EMD
3 lamin filament GO:0005638 9.16 LMNB1 LMNA
4 chromosome, telomeric region GO:0000781 9.02 WRN PRKDC NAT10 H2AX ERCC4

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 DNA recombination GO:0006310 9.69 WRN PRKDC H2AX
2 cellular response to insulin stimulus GO:0032869 9.67 PRKDC ENPP1 ADIPOQ
3 double-strand break repair via homologous recombination GO:0000724 9.65 WRN H2AX ERCC4
4 cellular response to DNA damage stimulus GO:0006974 9.63 ZMPSTE24 WRN PRKDC H2AX ERCC6 ERCC4
5 double-strand break repair via nonhomologous end joining GO:0006303 9.58 PRKDC H2AX ERCC4
6 double-strand break repair GO:0006302 9.54 WRN PRKDC H2AX
7 nuclear envelope organization GO:0006998 9.52 ZMPSTE24 LMNA
8 negative regulation of protein autophosphorylation GO:0031953 9.46 ENPP1 ADIPOQ
9 mitotic nuclear envelope reassembly GO:0007084 9.43 LMNA EMD
10 telomere maintenance GO:0000723 9.43 WRN PRKDC ERCC4
11 protein localization to nucleolus GO:1902570 9.32 WRN RAN
12 cellular response to gamma radiation GO:0071480 9.13 ZMPSTE24 WRN H2AX
13 DNA repair GO:0006281 9.1 ZMPSTE24 WRN PRKDC H2AX ERCC6 ERCC4

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 ZMPSTE24 WRN SPG7 RAN PRPS1 PRKDC
2 ATP binding GO:0005524 9.5 WRN SPG7 PRPS1 PRKDC NAT10 ERCC6

Sources for Hutchinson-Gilford Progeria 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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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