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 58 12 77 25 26 60 76 38
Progeria 58 12 77 54 26 60 56 45 15 74
Hgps 58 12 54 26 60 76
Hutchinson-Gilford Syndrome 26 30 6
Hutchinson-Gilford Progeria 58 13
Hutchinson Gilford Syndrome 12 54
Syndrome, Hutchinson-Gilford Progeria 41
Hutchinson-Gilford-Progeria Syndrome 77
Hutchinson Gilford Progeria Syndrome 54
Hutchinson-Gilford Disease 12
Progeria of Childhood 26

Characteristics:

Orphanet epidemiological data:

60
hutchinson-gilford progeria syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
hutchinson-gilford progeria syndrome:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


GeneReviews:

25
Penetrance Penetrance is complete...

Classifications:



Summaries for Hutchinson-Gilford Progeria Syndrome

OMIM : 58 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 restrictive dermopathy, lethal. An important gene associated with Hutchinson-Gilford Progeria Syndrome is LMNA (Lamin A/C), and among its related pathways/superpathways are DNA Damage and DREAM Repression and Dynorphin Expression. The drugs Pravastatin and Zoledronic Acid have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and bone, and related phenotypes are failure to thrive and joint stiffness

Genetics Home Reference : 26 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 : 54 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 : 76 Hutchinson-Gilford progeria syndrome: Rare genetic disorder characterized by features reminiscent of marked premature aging.

Wikipedia : 77 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 102)
# Related Disease Score Top Affiliating Genes
1 atypical werner syndrome 32.7 LMNA WRN
2 restrictive dermopathy, lethal 31.5 LMNA ZMPSTE24
3 mandibuloacral dysplasia with type a lipodystrophy 31.2 LMNA ZMPSTE24
4 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 30.3 ADIPOQ LMNA
5 acroosteolysis 30.0 LMNA ZMPSTE24
6 nestor-guillermo progeria syndrome 12.6
7 progeria variant syndrome ruvalcaba type 12.1
8 lmna-related cardiocutaneous progeria syndrome 12.1
9 cockayne syndrome 11.9
10 wiedemann-rautenstrauch syndrome 11.4
11 progeroid short stature with pigmented nevi 11.2
12 cutis laxa, autosomal recessive, type iiia 11.2
13 autosomal recessive cutis laxa type iii 11.2
14 clark-baraitser syndrome 11.1
15 aging 11.1
16 cutis laxa, autosomal recessive, type iia 11.0
17 xeroderma pigmentosum, complementation group f 11.0
18 dyskeratosis congenita 11.0
19 cockayne syndrome type i 11.0
20 cockayne syndrome type ii 11.0
21 cockayne syndrome type iii 11.0
22 atherosclerosis susceptibility 10.6
23 werner syndrome 10.6
24 fontaine progeroid syndrome 10.6
25 aortic valve disease 2 10.6
26 retinoblastoma 10.4
27 ichthyosis prematurity syndrome 10.4
28 gingival recession 10.4
29 systemic scleroderma 10.4
30 bone disease 10.4
31 pigmentation disease 10.4
32 hypoparathyroidism 10.4
33 vascular disease 10.4
34 calcinosis 10.4
35 aortic disease 10.4
36 cerebrovascular disease 10.4
37 scleredema 10.4
38 leukodystrophy, demyelinating, adult-onset, autosomal dominant 10.3 LMNA LMNB1
39 complete generalized lipodystrophy 10.2 LMNA ZMPSTE24
40 lipodystrophy, congenital generalized, type 1 10.2 ADIPOQ LMNA ZMPSTE24
41 adrenomyodystrophy 10.2
42 skin disease 10.2
43 arthropathy 10.1 ACAN TNFRSF11B ZMPSTE24
44 ovarian cystadenoma 10.1 LMNA ZMPSTE24
45 otitis media 10.0
46 hyperglycemia 10.0
47 congenital giant megaureter 10.0
48 haemophilus influenzae 10.0
49 coloboma of macula 10.0
50 diabetes mellitus, noninsulin-dependent 10.0

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:

60 33 (show top 50) (show all 105)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
2 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
3 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
4 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
5 osteoporosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000939
6 prominent forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0011220
7 lipoatrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0100578
8 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
9 delayed eruption of teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000684
10 hyperinsulinemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000842
11 alopecia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001596
12 multiple joint contractures 60 33 hallmark (90%) Very frequent (99-80%) HP:0002828
13 narrow mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000160
14 nasal speech 60 33 hallmark (90%) Very frequent (99-80%) HP:0001611
15 thrombocytosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001894
16 proptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000520
17 high pitched voice 60 33 hallmark (90%) Very frequent (99-80%) HP:0001620
18 infertility 60 33 hallmark (90%) Very frequent (99-80%) HP:0000789
19 sparse hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0008070
20 bird-like facies 60 33 hallmark (90%) Very frequent (99-80%) HP:0000320
21 short clavicles 60 33 hallmark (90%) Very frequent (99-80%) HP:0000894
22 decreased serum estradiol 60 33 hallmark (90%) Very frequent (99-80%) HP:0008214
23 prominent scalp veins 60 33 hallmark (90%) Very frequent (99-80%) HP:0001043
24 hypoplastic facial bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0002692
25 thin bony cortex 60 33 hallmark (90%) Very frequent (99-80%) HP:0002753
26 craniofacial disproportion 60 33 hallmark (90%) Very frequent (99-80%) HP:0005461
27 absence of pubertal development 60 33 hallmark (90%) Very frequent (99-80%) HP:0008197
28 bilateral coxa valga 60 33 hallmark (90%) Very frequent (99-80%) HP:0010665
29 abnormal trabecular bone morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0100671
30 hypogonadotrophic hypogonadism 33 hallmark (90%) HP:0000044
31 decreased serum testosterone level 33 hallmark (90%) HP:0040171
32 aplastic clavicle 33 hallmark (90%) HP:0006660
33 osteoarthritis 60 33 frequent (33%) Frequent (79-30%) HP:0002758
34 hypertension 60 33 frequent (33%) Frequent (79-30%) HP:0000822
35 kyphosis 60 33 frequent (33%) Frequent (79-30%) HP:0002808
36 macrotia 60 33 frequent (33%) Frequent (79-30%) HP:0000400
37 aminoaciduria 60 33 frequent (33%) Frequent (79-30%) HP:0003355
38 angina pectoris 60 33 frequent (33%) Frequent (79-30%) HP:0001681
39 ovoid vertebral bodies 60 33 frequent (33%) Frequent (79-30%) HP:0003300
40 thin skin 60 33 frequent (33%) Frequent (79-30%) HP:0000963
41 lack of skin elasticity 60 33 frequent (33%) Frequent (79-30%) HP:0100679
42 hypohidrosis 60 33 frequent (33%) Frequent (79-30%) HP:0000966
43 hepatic steatosis 60 33 frequent (33%) Frequent (79-30%) HP:0001397
44 premature graying of hair 60 33 frequent (33%) Frequent (79-30%) HP:0002216
45 keratoconjunctivitis sicca 60 33 frequent (33%) Frequent (79-30%) HP:0001097
46 thin ribs 60 33 frequent (33%) Frequent (79-30%) HP:0000883
47 hypotrichosis 60 33 frequent (33%) Frequent (79-30%) HP:0001006
48 hypodontia 60 33 frequent (33%) Frequent (79-30%) HP:0000668
49 nail dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0002164
50 thin vermilion border 60 33 frequent (33%) Frequent (79-30%) HP:0000233

Symptoms via clinical synopsis from OMIM:

58
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

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

27 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-10 9.58 ANK3
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.58 PRKDC
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.58 ROCK1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.58 PRKDC
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.58 ROCK1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.58 GGT1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.58 GGT1 ROCK1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.58 GGT1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.58 ANK3 GGT1 PRKDC ROCK1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.58 ROCK1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.58 ANK3 GGT1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.58 PRKDC
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.58 GGT1

MGI Mouse Phenotypes related to Hutchinson-Gilford Progeria Syndrome:

47 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.35 ADIPOQ GGT1 H2AFX LMNA LMNB1 LMNB2
2 growth/size/body region MP:0005378 10.32 ADIPOQ GGT1 H2AFX LMNA LMNB1 LMNB2
3 hematopoietic system MP:0005397 10.31 ADIPOQ GGT1 H2AFX LMNA LMNB1 NAT10
4 mortality/aging MP:0010768 10.27 ADIPOQ ANK3 GGT1 H2AFX LMNA LMNB1
5 homeostasis/metabolism MP:0005376 10.26 ADIPOQ GGT1 H2AFX LMNA LMNB1 LMNB2
6 immune system MP:0005387 10.2 ADIPOQ GGT1 H2AFX LMNA NAT10 PRKDC
7 craniofacial MP:0005382 10.13 LMNA LMNB1 PRKDC RFC1 TNFRSF11B TWIST2
8 integument MP:0010771 10.13 ADIPOQ GGT1 LMNA LMNB1 LMNB2 PRKDC
9 adipose tissue MP:0005375 10.09 ADIPOQ LMNA PRKDC ROCK1 TWIST2 WRN
10 muscle MP:0005369 9.92 ADIPOQ LMNA LMNB1 LMNB2 PRKDC ROCK1
11 limbs/digits/tail MP:0005371 9.88 GGT1 LMNA TNFRSF11B TWIST2 WRN ZMPSTE24
12 renal/urinary system MP:0005367 9.8 ADIPOQ ANK3 GGT1 LMNA PRKDC ROCK1
13 respiratory system MP:0005388 9.76 ADIPOQ ANK3 LMNA LMNB1 LMNB2 PRKDC
14 skeleton MP:0005390 9.65 ADIPOQ GGT1 LMNA LMNB1 PRKDC ROCK1
15 vision/eye MP:0005391 9.23 GGT1 H2AFX LMNA PRKDC PRPS1 ROCK1

Drugs & Therapeutics for Hutchinson-Gilford Progeria Syndrome

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pravastatin Approved Phase 2 81093-37-0 54687
2
Zoledronic Acid Approved Phase 2 118072-93-8 68740
3
Sirolimus Approved, Investigational Phase 1, Phase 2,Phase 2 53123-88-9 46835353 5284616 6436030
4
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2,Phase 2 22916-47-8 4189
5
Everolimus Approved Phase 1, Phase 2 159351-69-6 70789204 6442177
6
Lonafarnib Investigational Phase 2,Phase 1 193275-84-2 148195
7 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
8 Lipid Regulating Agents Phase 2
9 Pharmaceutical Solutions Phase 2
10 Hypolipidemic Agents Phase 2
11
s 1 (combination) Phase 2
12 Anticholesteremic Agents Phase 2
13 Antimetabolites Phase 2
14 Bone Density Conservation Agents Phase 2
15 Anti-Infective Agents Phase 1, Phase 2,Phase 2
16 Anti-Bacterial Agents Phase 1, Phase 2,Phase 2
17 Antibiotics, Antitubercular Phase 1, Phase 2,Phase 2
18 Immunosuppressive Agents Phase 1, Phase 2,Phase 2
19 Antifungal Agents Phase 1, Phase 2,Phase 2
20 Immunologic Factors Phase 1, Phase 2,Phase 2
21 Anti-Retroviral Agents
22 Antiviral Agents
23 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 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 Umbilical Cord Blood Transfusion in Progeria Syndrome Enrolling by invitation NCT03871972 Phase 1, Phase 2 Umbilical Cord Blood Unit
7 Clinical Studies of Progeria Completed NCT00094393
8 Accelerated Aging, HIV Infection, Antiretroviral Therapies Completed NCT01038999
9 Identification of a New Gene Involved in Hereditary Lipodystrophy Completed NCT02056912 Not Applicable
10 The LD Lync Study - Natural History Study of Genetic Lipodystrophy Syndromes Recruiting NCT03087253
11 NUCLEAR LAMINA, OVARIAN AGE AND MEDICAL ASSISTANCE TO PROCREATION Recruiting NCT03686111
12 Lonafarnib for Patients With Hutchinson-Gilford Progeria Syndrome 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 30 LMNA

Anatomical Context for Hutchinson-Gilford Progeria Syndrome

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

42
Skin, Heart, Bone, Eye, Kidney, Cortex, Smooth Muscle

Publications for Hutchinson-Gilford Progeria Syndrome

Articles related to Hutchinson-Gilford Progeria Syndrome:

(show top 50) (show all 601)
# Title Authors Year
1
Lamin A buffers CK2 kinase activity to modulate aging in a progeria mouse model. ( 30906869 )
2019
2
Imbalanced nucleocytoskeletal connections create common polarity defects in progeria and physiological aging. ( 30808750 )
2019
3
Methionine restriction for improving progeria: another autophagy-inducing anti-aging strategy? ( 30304972 )
2019
4
Telomere elongation through hTERT immortalization leads to chromosome repositioning in control cells and genomic instability in Hutchinson-Gilford progeria syndrome fibroblasts, expressing a novel SUN1 isoform. ( 30474255 )
2019
5
Hutchinson-Gilford Progeria Syndrome-Current Status and Prospects for Gene Therapy Treatment. ( 30691039 )
2019
6
Development of a CRISPR/Cas9-based therapy for Hutchinson-Gilford progeria syndrome. ( 30778239 )
2019
7
Single-dose CRISPR-Cas9 therapy extends lifespan of mice with Hutchinson-Gilford progeria syndrome. ( 30778240 )
2019
8
Vascular smooth muscle cell-specific progerin expression in a mouse model of Hutchinson-Gilford progeria syndrome promotes arterial stiffness: Therapeutic effect of dietary nitrite. ( 30884114 )
2019
9
Hutchinson-Gilford Progeria Syndrome: Challenges at Bench and Bedside. ( 30888661 )
2019
10
Vascular smooth muscle cell loss underpins the accelerated atherosclerosis in Hutchinson-Gilford progeria syndrome. ( 30900948 )
2019
11
Generation and characterization of a novel knockin minipig model of Hutchinson-Gilford progeria syndrome. ( 30911407 )
2019
12
Hutchinson-Gilford Progeria Syndrome: Cardiovascular Pathologies and Potential Therapies. ( 31036409 )
2019
13
Extraskeletal calcifications in Hutchinson-Gilford progeria syndrome. ( 31077852 )
2019
14
Therapeutic Target Identified for Slowing Early Atherosclerosis in Progeria: Researchers have identifi ed a new molecular mechanism involved in the premature development of atherosclerosis in progeria. ( 31033169 )
2019
15
Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis. ( 30902910 )
2019
16
A Very Rare Case of Coronary Artery Bypass Grafting in a Progeria Child. ( 31014187 )
2019
17
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
18
Assessment of the Aging of the Brown Adipose Tissue by 18F-FDG PET/CT Imaging in the Progeria Mouse Model Lmna-/. ( 30116163 )
2018
19
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
20
Disrupting the LINC complex in smooth muscle cells reduces aortic disease in a mouse model of Hutchinson-Gilford progeria syndrome. ( 30257952 )
2018
21
Microbiome at sites of gingival recession in children with Hutchinson-Gilford progeria syndrome. ( 29520806 )
2018
22
Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease. ( 28660486 )
2018
23
Aging in the Cardiovascular System: Lessons from Hutchinson-Gilford Progeria Syndrome. ( 28934587 )
2018
24
Cardiac Abnormalities in Patients With Hutchinson-Gilford Progeria Syndrome. ( 29466530 )
2018
25
Left Ventricular Diastolic Dysfunction in Hutchinson-Gilford Progeria Syndrome. ( 29466548 )
2018
26
Differential stem cell aging kinetics in Hutchinson-Gilford progeria syndrome and Werner syndrome. ( 29476423 )
2018
27
Vascular Smooth Muscle-Specific Progerin Expression Accelerates Atherosclerosis and Death in a Mouse Model of Hutchinson-Gilford Progeria Syndrome. ( 29490993 )
2018
28
Abnormal nuclear morphology is independent of longevity in a zmpste24-deficient fish model of Hutchinson-Gilford progeria syndrome (HGPS). ( 29567411 )
2018
29
Mechanisms of vascular aging: What can we learn from Hutchinson-Gilford progeria syndrome? ( 29602596 )
2018
30
An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome. ( 29619863 )
2018
31
Precision Medicine and Progress in the Treatment of Hutchinson-Gilford Progeria Syndrome. ( 29710145 )
2018
32
Association of Lonafarnib Treatment vs No Treatment With Mortality Rate in Patients With Hutchinson-Gilford Progeria Syndrome. ( 29710166 )
2018
33
Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes. ( 29904107 )
2018
34
Farnesyltransferase inhibitor and rapamycin correct aberrant genome organisation and decrease DNA damage respectively, in Hutchinson-Gilford progeria syndrome fibroblasts. ( 29907918 )
2018
35
Erythrocyte Senescence in a Model of Rat Displaying Hutchinson-Gilford Progeria Syndrome. ( 30003010 )
2018
36
EFFECTIVE PAIN CONTROL IN HUTCHINSON-GILFORD PROGERIA SYNDROME. ( 30013813 )
2018
37
Electrocardiographic Abnormalities in Patients With Hutchinson-Gilford Progeria Syndrome. ( 30046820 )
2018
38
Electrocardiographic Abnormalities in Patients With Hutchinson-Gilford Progeria Syndrome-Reply. ( 30046839 )
2018
39
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies. ( 30048243 )
2018
40
Epigenetic clocks galore: a new improved clock predicts age-acceleration in Hutchinson Gilford Progeria Syndrome patients. ( 30130743 )
2018
41
BK channel overexpression on plasma membrane of fibroblasts from Hutchinson-Gilford progeria syndrome. ( 30398975 )
2018
42
Modeling Alzheimer's disease in progeria mice. An age-related concept. ( 30319737 )
2018
43
Permanently Farnesylated Prelamin A, Progeria, and Atherosclerosis. ( 30012702 )
2018
44
Doubled lifespan and patient-like pathologies in progeria mice fed high-fat diet. ( 30548460 )
2018
45
A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome. ( 30573803 )
2018
46
Expression of the Hutchinson-Gilford Progeria Mutation Leads to Aberrant Dentin Formation. ( 30337599 )
2018
47
Increased transport of acetyl-CoA into the endoplasmic reticulum causes a progeria-like phenotype. ( 30051577 )
2018
48
Diminished Canonical β-Catenin Signaling During Osteoblast Differentiation Contributes to Osteopenia in Progeria. ( 30001457 )
2018
49
Boosting ATM activity alleviates aging and extends lifespan in a mouse model of progeria. ( 29717979 )
2018
50
Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria. ( 29572490 )
2018

Variations for Hutchinson-Gilford Progeria Syndrome

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

76
# 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 108)
# Gene Variation Type Significance SNP ID Assembly Location
1 LMNA NM_170707.3(LMNA): c.1445G> A (p.Arg482Gln) single nucleotide variant Pathogenic rs11575937 GRCh37 Chromosome 1, 156106776: 156106776
2 LMNA NM_170707.3(LMNA): c.1445G> A (p.Arg482Gln) single nucleotide variant Pathogenic rs11575937 GRCh38 Chromosome 1, 156136985: 156136985
3 LMNA NM_170707.3(LMNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Pathogenic rs57318642 GRCh37 Chromosome 1, 156106994: 156106994
4 LMNA NM_170707.3(LMNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Pathogenic rs57318642 GRCh38 Chromosome 1, 156137203: 156137203
5 LMNA NM_170707.3(LMNA): c.1824C> T (p.Gly608=) single nucleotide variant Pathogenic rs58596362 GRCh37 Chromosome 1, 156108404: 156108404
6 LMNA NM_170707.3(LMNA): c.1824C> T (p.Gly608=) single nucleotide variant Pathogenic rs58596362 GRCh38 Chromosome 1, 156138613: 156138613
7 LMNA NM_170707.3(LMNA): c.1822G> A (p.Gly608Ser) single nucleotide variant Pathogenic rs61064130 GRCh37 Chromosome 1, 156108402: 156108402
8 LMNA NM_170707.3(LMNA): c.1822G> A (p.Gly608Ser) single nucleotide variant Pathogenic rs61064130 GRCh38 Chromosome 1, 156138611: 156138611
9 LMNA NM_170707.3(LMNA): c.433G> A (p.Glu145Lys) single nucleotide variant Pathogenic rs60310264 GRCh37 Chromosome 1, 156100484: 156100484
10 LMNA NM_170707.3(LMNA): c.433G> A (p.Glu145Lys) single nucleotide variant Pathogenic rs60310264 GRCh38 Chromosome 1, 156130693: 156130693
11 LMNA NM_170707.3(LMNA): c.1821G> A (p.Val607=) single nucleotide variant Pathogenic rs59886214 GRCh37 Chromosome 1, 156108401: 156108401
12 LMNA NM_170707.3(LMNA): c.1821G> A (p.Val607=) single nucleotide variant Pathogenic rs59886214 GRCh38 Chromosome 1, 156138610: 156138610
13 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh37 Chromosome 1, 156105758: 156105758
14 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh38 Chromosome 1, 156135967: 156135967
15 LMNA NM_005572.3(LMNA): c.51C> T (p.Ser17=) single nucleotide variant Benign/Likely benign rs11549668 GRCh37 Chromosome 1, 156084760: 156084760
16 LMNA NM_005572.3(LMNA): c.51C> T (p.Ser17=) single nucleotide variant Benign/Likely benign rs11549668 GRCh38 Chromosome 1, 156114969: 156114969
17 LMNA NM_170707.3(LMNA): c.810+13G> T single nucleotide variant Benign rs11264444 GRCh37 Chromosome 1, 156104779: 156104779
18 LMNA NM_170707.3(LMNA): c.810+13G> T single nucleotide variant Benign rs11264444 GRCh38 Chromosome 1, 156134988: 156134988
19 LMNA NM_005572.3(LMNA): c.1338T> C (p.Asp446=) single nucleotide variant Benign rs505058 GRCh37 Chromosome 1, 156106185: 156106185
20 LMNA NM_005572.3(LMNA): c.1338T> C (p.Asp446=) single nucleotide variant Benign rs505058 GRCh38 Chromosome 1, 156136394: 156136394
21 LMNA NM_170707.3(LMNA): c.1566C> T (p.Cys522=) single nucleotide variant Conflicting interpretations of pathogenicity rs149339264 GRCh37 Chromosome 1, 156106981: 156106981
22 LMNA NM_170707.3(LMNA): c.1566C> T (p.Cys522=) single nucleotide variant Conflicting interpretations of pathogenicity rs149339264 GRCh38 Chromosome 1, 156137190: 156137190
23 LMNA NM_005572.3(LMNA): c.1584G> A (p.Thr528=) single nucleotide variant Benign/Likely benign rs80356812 GRCh37 Chromosome 1, 156106999: 156106999
24 LMNA NM_005572.3(LMNA): c.1584G> A (p.Thr528=) single nucleotide variant Benign/Likely benign rs80356812 GRCh38 Chromosome 1, 156137208: 156137208
25 LMNA NM_005572.3(LMNA): c.1698C> T (p.His566=) single nucleotide variant Benign rs4641 GRCh37 Chromosome 1, 156107534: 156107534
26 LMNA NM_005572.3(LMNA): c.1698C> T (p.His566=) single nucleotide variant Benign rs4641 GRCh38 Chromosome 1, 156137743: 156137743
27 LMNA NM_170707.3(LMNA): c.612G> A (p.Leu204=) single nucleotide variant Benign/Likely benign rs12117552 GRCh37 Chromosome 1, 156104292: 156104292
28 LMNA NM_170707.3(LMNA): c.612G> A (p.Leu204=) single nucleotide variant Benign/Likely benign rs12117552 GRCh38 Chromosome 1, 156134501: 156134501
29 LMNA NM_170707.3(LMNA): c.811-13T> A single nucleotide variant Benign/Likely benign rs80356809 GRCh37 Chromosome 1, 156104965: 156104965
30 LMNA NM_170707.3(LMNA): c.811-13T> A single nucleotide variant Benign/Likely benign rs80356809 GRCh38 Chromosome 1, 156135174: 156135174
31 LMNA NM_005572.3(LMNA): c.861T> C (p.Ala287=) single nucleotide variant Benign rs538089 GRCh37 Chromosome 1, 156105028: 156105028
32 LMNA NM_005572.3(LMNA): c.861T> C (p.Ala287=) single nucleotide variant Benign rs538089 GRCh38 Chromosome 1, 156135237: 156135237
33 LMNA NM_170707.3(LMNA): c.1149G> A (p.Glu383=) single nucleotide variant Conflicting interpretations of pathogenicity rs267607603 GRCh37 Chromosome 1, 156105904: 156105904
34 LMNA NM_170707.3(LMNA): c.1149G> A (p.Glu383=) single nucleotide variant Conflicting interpretations of pathogenicity rs267607603 GRCh38 Chromosome 1, 156136113: 156136113
35 LMNA NM_170707.3(LMNA): c.1243G> A (p.Val415Ile) single nucleotide variant Uncertain significance rs267607606 GRCh37 Chromosome 1, 156106090: 156106090
36 LMNA NM_170707.3(LMNA): c.1243G> A (p.Val415Ile) single nucleotide variant Uncertain significance rs267607606 GRCh38 Chromosome 1, 156136299: 156136299
37 LMNA NM_170707.3(LMNA): c.1303C> T (p.Arg435Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150840924 GRCh37 Chromosome 1, 156106150: 156106150
38 LMNA NM_170707.3(LMNA): c.1303C> T (p.Arg435Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150840924 GRCh38 Chromosome 1, 156136359: 156136359
39 LMNA NM_170707.3(LMNA): c.1619T> C (p.Met540Thr) single nucleotide variant Pathogenic rs267607547 GRCh37 Chromosome 1, 156107455: 156107455
40 LMNA NM_170707.3(LMNA): c.1619T> C (p.Met540Thr) single nucleotide variant Pathogenic rs267607547 GRCh38 Chromosome 1, 156137664: 156137664
41 LMNA NM_170707.3(LMNA): c.1868C> G (p.Thr623Ser) single nucleotide variant Pathogenic rs59267781 GRCh37 Chromosome 1, 156108448: 156108448
42 LMNA NM_170707.3(LMNA): c.1868C> G (p.Thr623Ser) single nucleotide variant Pathogenic rs59267781 GRCh38 Chromosome 1, 156138657: 156138657
43 LMNA NM_170707.3(LMNA): c.1968+1G> A single nucleotide variant Pathogenic rs113436208 GRCh37 Chromosome 1, 156108549: 156108549
44 LMNA NM_170707.3(LMNA): c.1968+1G> A single nucleotide variant Pathogenic rs113436208 GRCh38 Chromosome 1, 156138758: 156138758
45 LMNA NM_170707.3(LMNA): c.667G> A (p.Glu223Lys) single nucleotide variant Pathogenic rs797044485 GRCh38 Chromosome 1, 156134832: 156134832
46 LMNA NM_170707.3(LMNA): c.667G> A (p.Glu223Lys) single nucleotide variant Pathogenic rs797044485 GRCh37 Chromosome 1, 156104623: 156104623
47 LMNA NM_170707.3(LMNA): c.1699_1968del270 (p.Gly567_Gln656del) deletion Pathogenic rs1553266460 GRCh38 Chromosome 1, 156138488: 156138757
48 LMNA NM_170707.3(LMNA): c.1699_1968del270 (p.Gly567_Gln656del) deletion Pathogenic rs1553266460 GRCh37 Chromosome 1, 156108279: 156108548
49 LMNA NM_170707.3(LMNA): c.1771T> A (p.Cys591Ser) single nucleotide variant Pathogenic rs797044486 GRCh38 Chromosome 1, 156138560: 156138560
50 LMNA NM_170707.3(LMNA): c.1771T> A (p.Cys591Ser) single nucleotide variant Pathogenic rs797044486 GRCh37 Chromosome 1, 156108351: 156108351

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 protein-containing complex GO:0032991 9.72 ADIPOQ PRKDC RAN RFC1 ZMPSTE24
2 replication fork GO:0005657 9.37 H2AFX WRN
3 nuclear envelope GO:0005635 9.35 LMNA LMNB1 LMNB2 RAN ZMPSTE24
4 nuclear inner membrane GO:0005637 9.33 LMNB1 LMNB2 ZMPSTE24
5 male germ cell nucleus GO:0001673 9.26 H2AFX RAN
6 lamin filament GO:0005638 8.8 LMNA LMNB1 LMNB2

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 protein localization to plasma membrane GO:0072659 9.65 ADIPOQ ANK3 ROCK1
3 DNA recombination GO:0006310 9.58 H2AFX PRKDC WRN
4 regulation of glucose metabolic process GO:0010906 9.46 ADIPOQ ZMPSTE24
5 nuclear envelope organization GO:0006998 9.43 LMNA ZMPSTE24
6 double-strand break repair GO:0006302 9.43 H2AFX PRKDC WRN
7 determination of adult lifespan GO:0008340 9.37 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 9.62 ACAN ADIPOQ ANK3 ELN GGT1 H2AFX
2 ATP binding GO:0005524 9.5 NAT10 PRKDC PRPS1 RFC1 ROCK1 UBA7
3 double-stranded DNA binding GO:0003690 9.43 PRKDC RFC1 ZMPSTE24
4 extracellular matrix structural constituent GO:0005201 9.33 ACAN ADIPOQ ELN

Sources for Hutchinson-Gilford Progeria Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....