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 56 12 74 24 25 58 73 36
Progeria 56 12 74 52 25 58 54 43 15 71
Hgps 56 12 52 25 58 73
Hutchinson-Gilford Syndrome 25 29 6
Hutchinson-Gilford Progeria 56 13
Hutchinson Gilford Syndrome 12 52
Syndrome, Hutchinson-Gilford Progeria 39
Hutchinson-Gilford-Progeria Syndrome 74
Hutchinson Gilford Progeria Syndrome 52
Hutchinson-Gilford Disease 12
Progeria of Childhood 25

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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:

24
Penetrance Penetrance is complete.

Classifications:

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


Summaries for Hutchinson-Gilford Progeria Syndrome

OMIM : 56 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 progeroid syndrome and atypical werner 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 Chks in Checkpoint Regulation. The drugs Everolimus and Clotrimazole have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and bone, and related phenotypes are joint stiffness 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.

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. 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.

NIH Rare Diseases : 52 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.

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 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 238)
# Related Disease Score Top Affiliating Genes
1 progeroid syndrome 34.1 WRN LMNA ERCC4
2 atypical werner syndrome 33.6 WRN LMNA
3 cockayne syndrome a 32.4 ERCC6 ERCC4
4 laminopathy 32.1 ZMPSTE24 LMNA EMD
5 werner syndrome 32.1 WRN PRKDC LMNA
6 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 32.1 ZMPSTE24 LMNA ADIPOQ
7 acroosteolysis 31.8 ZMPSTE24 LMNA
8 emery-dreifuss muscular dystrophy 31.7 LMNB1 LMNA EMD
9 calcinosis 31.6 ZMPSTE24 LMNA ENPP1
10 skin atrophy 31.6 ZMPSTE24 WRN LMNA ERCC6
11 xeroderma pigmentosum, variant type 31.5 WRN PRKDC H2AX ERCC6 ERCC4
12 mandibuloacral dysplasia with type a lipodystrophy 31.5 ZMPSTE24 LMNA
13 arthropathy 31.2 ZMPSTE24 TNFRSF11B ACAN
14 muscular dystrophy, congenital, lmna-related 31.0 ZMPSTE24 NAT10 LMNB1 LMNA EMD
15 lipodystrophy, familial partial, type 2 30.9 ZMPSTE24 LMNA ADIPOQ
16 emery-dreifuss muscular dystrophy 3, autosomal recessive 30.8 LMNB1 LMNA EMD
17 cardiomyopathy, dilated, 1a 30.8 ZMPSTE24 LMNB1 LMNA EMD
18 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 30.7 ZMPSTE24 LMNA ERCC6
19 xfe progeroid syndrome 30.7 WRN ERCC6 ERCC4
20 nestor-guillermo progeria syndrome 12.8
21 lmna-related cardiocutaneous progeria syndrome 12.3
22 premature aging 12.2
23 progeroid short stature with pigmented nevi 12.1
24 cockayne syndrome 12.0
25 wiedemann-rautenstrauch syndrome 11.5
26 cutis laxa, autosomal recessive, type iiia 11.3
27 autosomal recessive cutis laxa type iii 11.3
28 clark-baraitser syndrome 11.2
29 cockayne syndrome b 11.1
30 cutis laxa, autosomal recessive, type iia 11.1
31 xeroderma pigmentosum, complementation group f 11.1
32 dyskeratosis congenita 11.1
33 cockayne syndrome type iii 11.1
34 alopecia 11.1
35 systemic scleroderma 10.9
36 restrictive dermopathy, lethal 10.8
37 aging 10.8
38 cerebrovascular disease 10.8
39 cardiomyopathy, dilated, 1h 10.7 LMNB1 LMNA EMD
40 reynolds syndrome 10.7 ZMPSTE24 LMNB1 LMNA
41 acquired generalized lipodystrophy 10.7 ZMPSTE24 LMNA ADIPOQ
42 bone disease 10.7
43 arteriosclerosis 10.7
44 charcot-marie-tooth disease, axonal, type 2b1 10.7 ZMPSTE24 LMNB1 LMNA EMD
45 lipodystrophy, familial partial, type 5 10.7 ZMPSTE24 LMNB1 LMNA EMD
46 leukodystrophy, demyelinating, adult-onset, autosomal dominant 10.7 ZMPSTE24 LMNB1 LMNA EMD
47 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.7 ZMPSTE24 LMNB1 LMNA EMD
48 emerinopathy 10.7 LMNA EMD
49 emery-dreifuss muscular dystrophy 1, x-linked 10.7 LMNB1 LMNA EMD
50 lipodystrophy, congenital generalized, type 1 10.7 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 162)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 58 31 hallmark (90%) Occasional (29-5%) HP:0001387
2 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
3 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
4 delayed eruption of teeth 58 31 hallmark (90%) Occasional (29-5%) HP:0000684
5 high pitched voice 58 31 hallmark (90%) Frequent (79-30%) HP:0001620
6 short clavicles 58 31 hallmark (90%) Occasional (29-5%) HP:0000894
7 craniofacial disproportion 58 31 hallmark (90%) Frequent (79-30%) HP:0005461
8 sensorineural hearing impairment 31 hallmark (90%) HP:0000407
9 short stature 31 hallmark (90%) HP:0004322
10 failure to thrive 31 hallmark (90%) HP:0001508
11 prominent forehead 31 hallmark (90%) HP:0011220
12 lipoatrophy 31 hallmark (90%) HP:0100578
13 osteoporosis 31 hallmark (90%) HP:0000939
14 hyperinsulinemia 31 hallmark (90%) HP:0000842
15 alopecia 31 hallmark (90%) HP:0001596
16 multiple joint contractures 31 hallmark (90%) HP:0002828
17 proptosis 31 hallmark (90%) HP:0000520
18 nasal speech 31 hallmark (90%) HP:0001611
19 infertility 31 hallmark (90%) HP:0000789
20 sparse hair 31 hallmark (90%) HP:0008070
21 decreased serum estradiol 31 hallmark (90%) HP:0008214
22 bird-like facies 31 hallmark (90%) HP:0000320
23 thrombocytosis 31 hallmark (90%) HP:0001894
24 decreased serum testosterone level 31 hallmark (90%) HP:0040171
25 absence of pubertal development 31 hallmark (90%) HP:0008197
26 thin bony cortex 31 hallmark (90%) HP:0002753
27 abnormal trabecular bone morphology 31 hallmark (90%) HP:0100671
28 prominent scalp veins 31 hallmark (90%) HP:0001043
29 bilateral coxa valga 31 hallmark (90%) HP:0010665
30 hypogonadotropic hypogonadism 31 hallmark (90%) HP:0000044
31 aplastic clavicle 31 hallmark (90%) HP:0006660
32 hypoplastic facial bones 31 hallmark (90%) HP:0002692
33 lack of skin elasticity 58 31 frequent (33%) Frequent (79-30%) HP:0100679
34 hypertension 58 31 frequent (33%) Occasional (29-5%) HP:0000822
35 angina pectoris 58 31 frequent (33%) Very rare (<4-1%) HP:0001681
36 hypodontia 58 31 frequent (33%) Occasional (29-5%) HP:0000668
37 osteoarthritis 58 31 frequent (33%) Occasional (29-5%) HP:0002758
38 thin vermilion border 58 31 frequent (33%) Very frequent (99-80%) HP:0000233
39 cyanosis 58 31 frequent (33%) Occasional (29-5%) HP:0000961
40 narrow nasal tip 58 31 frequent (33%) Frequent (79-30%) HP:0011832
41 macrotia 31 frequent (33%) HP:0000400
42 kyphosis 31 frequent (33%) HP:0002808
43 aminoaciduria 31 frequent (33%) HP:0003355
44 ovoid vertebral bodies 31 frequent (33%) HP:0003300
45 hypohidrosis 31 frequent (33%) HP:0000966
46 hepatic steatosis 31 frequent (33%) HP:0001397
47 premature graying of hair 31 frequent (33%) HP:0002216
48 aplasia/hypoplasia of the earlobes 31 frequent (33%) HP:0009906
49 broad-based gait 31 frequent (33%) HP:0002136
50 prolonged prothrombin time 31 frequent (33%) HP:0008151

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Hutchinson-Gilford Progeria Syndrome:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.38 ADIPOQ CYCS EMD ENPP1 ERCC4 ERCC6
2 growth/size/body region MP:0005378 10.32 ADIPOQ CYCS ENPP1 ERCC4 ERCC6 GGT1
3 homeostasis/metabolism MP:0005376 10.29 ADIPOQ EMD ENPP1 ERCC4 ERCC6 GGT1
4 hematopoietic system MP:0005397 10.27 ADIPOQ CYCS ERCC6 GGT1 H2AX LMNA
5 immune system MP:0005387 10.23 ADIPOQ CYCS ENPP1 ERCC6 GGT1 H2AX
6 mortality/aging MP:0010768 10.22 ADIPOQ ANK3 CYCS ENPP1 ERCC4 ERCC6
7 craniofacial MP:0005382 10.13 CYCS ENPP1 LMNA LMNB1 PRKDC TNFRSF11B
8 adipose tissue MP:0005375 10.09 ADIPOQ ENPP1 ERCC6 LMNA PRKDC WRN
9 integument MP:0010771 10.09 ADIPOQ ENPP1 ERCC6 GGT1 LMNA LMNB1
10 limbs/digits/tail MP:0005371 9.95 ENPP1 ERCC6 GGT1 LMNA TNFRSF11B WRN
11 liver/biliary system MP:0005370 9.91 ADIPOQ ENPP1 ERCC4 ERCC6 LMNA PRKDC
12 muscle MP:0005369 9.86 ADIPOQ EMD ENPP1 ERCC6 LMNA LMNB1
13 renal/urinary system MP:0005367 9.7 ADIPOQ ANK3 ENPP1 GGT1 LMNA PRKDC
14 skeleton MP:0005390 9.7 ADIPOQ CYCS ENPP1 ERCC6 GGT1 LMNA
15 vision/eye MP:0005391 9.23 ENPP1 ERCC6 GGT1 H2AX 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 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 1, Phase 2 159351-69-6 70789204 6442177
2
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
3
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
4
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
5
Zoledronic Acid Approved Phase 2 118072-93-8 68740
6
Pravastatin Approved Phase 2 81093-37-0 54687
7
Lonafarnib Investigational Phase 2 193275-84-2 148195
8 Pharmaceutical Solutions Phase 2
9 Anti-Infective Agents Phase 1, Phase 2
10 Immunologic Factors Phase 1, Phase 2
11 Immunosuppressive Agents Phase 1, Phase 2
12 Anti-Bacterial Agents Phase 1, Phase 2
13 Antifungal Agents Phase 1, Phase 2
14 Antibiotics, Antitubercular Phase 1, Phase 2
15 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
16 Lipid Regulating Agents Phase 2
17 Hypolipidemic Agents Phase 2
18 Anticholesteremic Agents Phase 2
19 Antimetabolites Phase 2
20 Anti-Retroviral Agents
21 Anesthetics

Interventional clinical trials:

(show all 12)
# 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 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 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
4 Phase I/II Trial of Everolimus in Combination With Lonafarnib in Progeria Recruiting NCT02579044 Phase 1, Phase 2 Everolimus and lonafarnib
5 Safety and Efficacy of Umbilical Cord Blood Transfusion in Patients With Hutchinson-Gilford Progeria Syndrome Enrolling by invitation NCT03871972 Phase 1, Phase 2 Umbilical Cord Blood Unit
6 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
7 Clinical Investigations Into Hutchison-Gilford Progeria Syndrome Completed NCT00094393
8 Influence of Physical Activity on Promising Atherosclerosis Biomarkers Completed NCT02097199
9 Identification of a New Gene Involved in Hereditary Lipodystrophy - LIPOGENE Completed NCT02056912
10 Accelerated Aging, HIV Infection, Antiretroviral Therapies Completed NCT01038999
11 NUCLEAR LAMINA, OVARIAN AGE AND MEDICAL ASSISTANCE TO PROCREATION Recruiting NCT03686111
12 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
Skin, Heart, Bone, Eye, Smooth Muscle, Endothelial, Brain

Publications for Hutchinson-Gilford Progeria Syndrome

Articles related to Hutchinson-Gilford Progeria Syndrome:

(show top 50) (show all 1449)
# Title Authors PMID Year
1
Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes. 61 54 6 56 24
17469202 2007
2
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). 61 54 24 56 6
12768443 2003
3
Truncated prelamin A expression in HGPS-like patients: a transcriptional study. 61 6 56 24
25649378 2015
4
Somatic and gonadal mosaicism in Hutchinson-Gilford progeria. 24 56 6 61
15793835 2005
5
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. 61 6 24 56
12714972 2003
6
Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition. 56 6 54 61
16126733 2005
7
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. 24 56 6
15317753 2004
8
Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. 61 6 56
15184648 2004
9
A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome. 61 56 24
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. 24 56 61
22065502 2011
11
Hutchinson-Gilford progeria syndrome: review of the phenotype. 56 24 61
16838330 2006
12
LMNA mutations in atypical Werner's syndrome. 56 6
12927431 2003
13
Lamin a truncation in Hutchinson-Gilford progeria. 61 56 24
12702809 2003
14
Increased expression of the Hutchinson-Gilford progeria syndrome truncated lamin A transcript during cell aging. 6 54 61
19172989 2009
15
Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation. 54 61 56
19283854 2009
16
Reversible phenotype in a mouse model of Hutchinson-Gilford progeria syndrome. 56 54 61
18708427 2008
17
Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation. 61 54 56
16825282 2006
18
Distinct structural and mechanical properties of the nuclear lamina in Hutchinson-Gilford progeria syndrome. 54 61 56
16801550 2006
19
Inhibiting farnesylation reverses the nuclear morphology defect in a HeLa cell model for Hutchinson-Gilford progeria syndrome. 61 54 56
16186497 2005
20
Paternal origin of LMNA mutations in Hutchinson-Gilford progeria. 54 6 61
15032975 2004
21
A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy. 24 6
12629077 2003
22
Chemical inhibition of NAT10 corrects defects of laminopathic cells. 61 56
24786082 2014
23
LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset. 56 61
23666920 2013
24
Correlated alterations in genome organization, histone methylation, and DNA-lamin A/C interactions in Hutchinson-Gilford progeria syndrome. 61 56
23152449 2013
25
Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells. 61 56
21715679 2011
26
Recapitulation of premature ageing with iPSCs from Hutchinson-Gilford progeria syndrome. 61 56
21346760 2011
27
Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging. 56 61
18587406 2008
28
Phenotype and course of Hutchinson-Gilford progeria syndrome. 61 56
18256394 2008
29
A farnesyltransferase inhibitor improves disease phenotypes in mice with a Hutchinson-Gilford progeria syndrome mutation. 56 61
16862216 2006
30
Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging. 61 6
16738054 2006
31
A protein farnesyltransferase inhibitor ameliorates disease in a mouse model of progeria. 61 56
16484451 2006
32
Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson-Gilford progeria syndrome. 61 56
16492728 2006
33
Ankyrin G overexpression in Hutchinson-Gilford progeria syndrome fibroblasts identified through biological filtering of expression profiles. 56 61
17033732 2006
34
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. 24 54 61
15622532 2005
35
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
36
Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome. 56 61
15286156 2004
37
Hutchinson-Gilford Progeria Syndrome 61 6
20301300 2003
38
Drawing the line in progeria syndromes. 61 56
12927424 2003
39
PRELP, collagen, and a theory of Hutchinson-Gilford progeria. 61 56
12437997 2003
40
Del(1)(q23) in a patient with Hutchinson-Gilford progeria. 61 56
12439901 2002
41
Severe bone changes in a case of Hutchinson-Gilford syndrome. 61 56
12381448 2002
42
Hutchinson-Gilford progeria: familial occurrence. 61 56
2389799 1990
43
Hutchinson-Gilford progeria syndrome: report of a Libyan family and evidence of autosomal recessive inheritance. 56 61
2721021 1989
44
Evidence for autosomal recessive inheritance of progeria (Hutchinson Gilford). 61 56
3228132 1988
45
[Neonatal Hutchinson-Gilford progeria with cutaneous sclerodermiform involvement]. 56 61
3579140 1987
46
Hutchinson-Gilford progeria syndrome in a 45-year-old man. 56 61
3728539 1986
47
Decreased sensitivity of old and progeric human fibroblasts to a preparation of factors with insulinlike activity. 56 61
7026617 1981
48
Thermolabile enzymes in progeria and Werner syndrome: evidence contrary to the protein error hypothesis. 61 56
6930821 1980
49
Detection of HLA antigens on progeria syndrome fibroblasts. 61 56
6988117 1980
50
Human mutations affecting aging--a review. 61 56
155763 1979

Variations for Hutchinson-Gilford Progeria Syndrome

ClinVar genetic disease variations for Hutchinson-Gilford Progeria Syndrome:

6 (show top 50) (show all 88) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LMNA NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)SNV Pathogenic 14498 rs59885338 1:156105059-156105059 1:156135268-156135268
2 LMNA NM_170707.4(LMNA):c.1824C>T (p.Gly608=)SNV Pathogenic 14500 rs58596362 1:156108404-156108404 1:156138613-156138613
3 LMNA NM_170707.4(LMNA):c.1822G>A (p.Gly608Ser)SNV Pathogenic 14501 rs61064130 1:156108402-156108402 1:156138611-156138611
4 LMNA NM_170707.4(LMNA):c.433G>A (p.Glu145Lys)SNV Pathogenic 14502 rs60310264 1:156100484-156100484 1:156130693-156130693
5 LMNA NM_170707.4(LMNA):c.1821G>A (p.Val607=)SNV Pathogenic 14516 rs59886214 1:156108401-156108401 1:156138610-156138610
6 LMNA NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)SNV Pathogenic 14486 rs11575937 1:156106776-156106776 1:156136985-156136985
7 LMNA NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys)SNV Pathogenic 14487 rs57318642 1:156106994-156106994 1:156137203-156137203
8 LMNA NM_170707.4(LMNA):c.1968+1G>CSNV Pathogenic 162413 rs113436208 1:156108549-156108549 1:156138758-156138758
9 LMNA NM_170707.4(LMNA):c.667G>A (p.Glu223Lys)SNV Pathogenic 162409 rs797044485 1:156104623-156104623 1:156134832-156134832
10 LMNA NM_170707.4(LMNA):c.1700_1968+1deldeletion Pathogenic 162410 rs1553266460 1:156108274-156108543 1:156138483-156138752
11 LMNA NM_170707.4(LMNA):c.1771T>A (p.Cys591Ser)SNV Pathogenic 162411 rs797044486 1:156108351-156108351 1:156138560-156138560
12 LMNA NM_170707.4(LMNA):c.1968G>A (p.Gln656=)SNV Pathogenic 162412 rs797044487 1:156108548-156108548 1:156138757-156138757
13 LMNA NM_170707.4(LMNA):c.1968+2T>ASNV Pathogenic 162414 rs113860699 1:156108550-156108550 1:156138759-156138759
14 LMNA NM_170707.4(LMNA):c.1968+2T>CSNV Pathogenic 162415 rs113860699 1:156108550-156108550 1:156138759-156138759
15 LMNA NM_170707.4(LMNA):c.1968+5G>ASNV Pathogenic 162417 rs797044488 1:156108553-156108553 1:156138762-156138762
16 LMNA NM_170707.4(LMNA):c.1968+5G>CSNV Pathogenic 162416 rs797044488 1:156108553-156108553 1:156138762-156138762
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.1868C>G (p.Thr623Ser)SNV Pathogenic 66869 rs59267781 1:156108448-156108448 1:156138657-156138657
19 LMNA NM_170707.4(LMNA):c.1968+1G>ASNV Pathogenic 66879 rs113436208 1:156108549-156108549 1:156138758-156138758
20 LMNA NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)SNV Pathogenic/Likely pathogenic 36473 rs386134243 1:156105758-156105758 1:156135967-156135967
21 LMNA NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)SNV Pathogenic/Likely pathogenic 66762 rs267607555 1:156105800-156105800 1:156136009-156136009
22 ERCC4 NM_005236.2(ERCC4):c.388+1164_792+795deldeletion Pathogenic/Likely pathogenic 625138
23 LMNA NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys)SNV Pathogenic/Likely pathogenic 66849 rs57629361 1:156106998-156106998 1:156137207-156137207
24 LMNA NM_170707.4(LMNA):c.1969-2A>TSNV Likely pathogenic 801558 1:156108869-156108869 1:156139078-156139078
25 LMNA NM_170707.4(LMNA):c.936+2T>CSNV Likely pathogenic 208496 rs797045011 1:156105105-156105105 1:156135314-156135314
26 LMNA NM_170707.4(LMNA):c.937-8C>ASNV Conflicting interpretations of pathogenicity 222694 rs751707982 1:156105684-156105684 1:156135893-156135893
27 LMNA NM_170707.4(LMNA):c.1488+14C>TSNV Conflicting interpretations of pathogenicity 178061 rs377700689 1:156106833-156106833 1:156137042-156137042
28 LMNA NM_170707.4(LMNA):c.1634G>A (p.Arg545His)SNV Conflicting interpretations of pathogenicity 163878 rs142191737 1:156107470-156107470 1:156137679-156137679
29 LMNA NM_170707.4(LMNA):c.1551G>A (p.Gln517=)SNV Conflicting interpretations of pathogenicity 199111 rs41314035 1:156106966-156106966 1:156137175-156137175
30 LMNA NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)SNV Conflicting interpretations of pathogenicity 200934 rs60864230 1:156100449-156100449 1:156130658-156130658
31 LMNA NM_170707.4(LMNA):c.471G>A (p.Thr157=)SNV Conflicting interpretations of pathogenicity 200936 rs150645079 1:156100522-156100522 1:156130731-156130731
32 LMNA NM_170707.4(LMNA):c.936+12C>TSNV Conflicting interpretations of pathogenicity 292837 rs199881992 1:156105115-156105115 1:156135324-156135324
33 LMNA NM_170707.4(LMNA):c.1488G>A (p.Thr496=)SNV Conflicting interpretations of pathogenicity 292839 rs375516745 1:156106819-156106819 1:156137028-156137028
34 LMNA NC_000001.11:g.156114696C>TSNV Conflicting interpretations of pathogenicity 874656 1:156084487-156084487 1:156114696-156114696
35 ERCC4 NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)SNV Conflicting interpretations of pathogenicity 16580 rs121913049 16:14041848-14041848 16:13947991-13947991
36 LMNA NM_170707.4(LMNA):c.1227A>G (p.Thr409=)SNV Conflicting interpretations of pathogenicity 698186 1:156106074-156106074 1:156136283-156136283
37 LMNA NM_170707.4(LMNA):c.1324G>A (p.Val442Met)SNV Conflicting interpretations of pathogenicity 519022 rs368542816 1:156106171-156106171 1:156136380-156136380
38 LMNA NM_170707.4(LMNA):c.1391T>A (p.Met464Lys)SNV Conflicting interpretations of pathogenicity 561054 rs1281896947 1:156106722-156106722 1:156136931-156136931
39 LMNA NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln)SNV Conflicting interpretations of pathogenicity 570103 rs267607598 1:156106205-156106205 1:156136414-156136414
40 LMNA NM_170707.4(LMNA):c.1149G>A (p.Glu383=)SNV Conflicting interpretations of pathogenicity 66780 rs267607603 1:156105904-156105904 1:156136113-156136113
41 LMNA NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys)SNV Conflicting interpretations of pathogenicity 66802 rs150840924 1:156106150-156106150 1:156136359-156136359
42 LMNA NM_170707.4(LMNA):c.357C>T (p.Arg119=)SNV Conflicting interpretations of pathogenicity 48062 rs41313880 1:156100408-156100408 1:156130617-156130617
43 LMNA NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)SNV Conflicting interpretations of pathogenicity 48063 rs397517901 1:156085059-156085059 1:156115268-156115268
44 LMNA NM_170707.4(LMNA):c.811-13T>ASNV Conflicting interpretations of pathogenicity 48086 rs80356809 1:156104965-156104965 1:156135174-156135174
45 LMNA NM_170707.4(LMNA):c.1566C>T (p.Cys522=)SNV Conflicting interpretations of pathogenicity 48043 rs149339264 1:156106981-156106981 1:156137190-156137190
46 LMNA NM_170707.4(LMNA):c.514-11C>TSNV Conflicting interpretations of pathogenicity 292836 rs886045365 1:156104183-156104183 1:156134392-156134392
47 LMNA NM_170707.4(LMNA):c.1698+57G>ASNV Conflicting interpretations of pathogenicity 292840 rs557334569 1:156107591-156107591 1:156137800-156137800
48 LMNA NM_170707.4(LMNA):c.294G>A (p.Glu98=)SNV Conflicting interpretations of pathogenicity 292834 rs886045363 1:156085003-156085003 1:156115212-156115212
49 LMNA NM_170707.4(LMNA):c.1698+124C>TSNV Uncertain significance 368833 rs1057516022 1:156107658-156107658 1:156137867-156137867
50 LMNA NM_170707.4(LMNA):c.985C>A (p.Arg329Ser)SNV Uncertain significance 292838 rs775159300 1:156105740-156105740 1:156135949-156135949

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
Show member pathways
12.24 PRKDC LMNB1 LMNA ERCC6 ERCC4 CYCS
3 12.22 RAN LMNB1 LMNA EMD
4 12.19 WRN PRKDC LMNA H2AX ERCC4
5
Show member pathways
11.93 PRKDC LMNB1 LMNA CYCS
6
Show member pathways
10.95 LMNB1 LMNA EMD
7
Show member pathways
10.65 PRKDC LMNB1 LMNA CYCS
8 10.49 PRKDC H2AX 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 nucleus GO:0005634 10.17 ZMPSTE24 WRN RAN PRKDC NAT10 MIR9-1
2 chromosome, telomeric region GO:0000781 9.43 WRN H2AX ERCC4
3 nuclear inner membrane GO:0005637 9.33 ZMPSTE24 LMNB1 EMD
4 nuclear envelope GO:0005635 9.02 ZMPSTE24 RAN LMNB1 LMNA EMD
5 lamin filament GO:0005638 8.96 LMNB1 LMNA

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 9.63 WRN H2AX ERCC4
4 double-strand break repair via nonhomologous end joining GO:0006303 9.58 PRKDC H2AX ERCC4
5 double-strand break repair GO:0006302 9.54 WRN PRKDC H2AX
6 nuclear envelope organization GO:0006998 9.52 ZMPSTE24 LMNA
7 negative regulation of protein autophosphorylation GO:0031953 9.48 ENPP1 ADIPOQ
8 mitotic nuclear envelope reassembly GO:0007084 9.43 LMNA EMD
9 telomere maintenance GO:0000723 9.43 WRN PRKDC ERCC4
10 cellular response to DNA damage stimulus GO:0006974 9.43 ZMPSTE24 WRN PRKDC H2AX ERCC6 ERCC4
11 cellular response to gamma radiation GO:0071480 9.33 ZMPSTE24 WRN H2AX
12 protein localization to nucleolus GO:1902570 9.32 WRN RAN
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 TNFRSF11B RAN PRPS1 PRKDC

Sources for Hutchinson-Gilford Progeria Syndrome

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
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68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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