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 recessive inheritance autosomal dominant 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 mandibuloacral dysplasia with type a lipodystrophy. An important gene associated with Hutchinson-Gilford Progeria Syndrome is LMNA (Lamin A/C), and among its related pathways/superpathways are TNFR1 Pathway and Apoptosis Modulation and Signaling. The drugs Pravastatin and Zoledronic Acid have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and eye, 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 91)
# Related Disease Score Top Affiliating Genes
1 atypical werner syndrome 32.7 LMNA WRN
2 mandibuloacral dysplasia with type a lipodystrophy 30.8 LMNA ZMPSTE24
3 nestor-guillermo progeria syndrome 12.5
4 progeria variant syndrome ruvalcaba type 12.1
5 lmna-related cardiocutaneous progeria syndrome 12.1
6 cockayne syndrome 11.8
7 progeroid short stature with pigmented nevi 11.2
8 cutis laxa, autosomal recessive, type iiia 11.2
9 autosomal recessive cutis laxa type iii 11.2
10 aging 11.1
11 clark-baraitser syndrome 11.1
12 cutis laxa, autosomal recessive, type iia 11.0
13 wiedemann-rautenstrauch syndrome 11.0
14 xeroderma pigmentosum, complementation group f 11.0
15 dyskeratosis congenita 11.0
16 cockayne syndrome type i 11.0
17 cockayne syndrome type ii 11.0
18 cockayne syndrome type iii 11.0
19 werner syndrome 10.6
20 aortic valve disease 2 10.6
21 atherosclerosis susceptibility 10.4
22 gingival recession 10.4
23 bone disease 10.4
24 pigmentation disease 10.4
25 hypoparathyroidism 10.4
26 vascular disease 10.4
27 calcinosis 10.4
28 aortic disease 10.4
29 cerebrovascular disease 10.4
30 scleredema 10.4
31 distal trisomy 11q 10.4
32 leukodystrophy, demyelinating, adult-onset, autosomal dominant 10.3 LMNA LMNB1
33 restrictive dermopathy, lethal 10.3 LMNA ZMPSTE24
34 complete generalized lipodystrophy 10.2 LMNA ZMPSTE24
35 adrenomyodystrophy 10.2
36 acroosteolysis 10.2 LMNA ZMPSTE24
37 lipodystrophy, congenital generalized, type 1 10.2 ADIPOQ LMNA ZMPSTE24
38 skin disease 10.1
39 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.1 ADIPOQ LMNA
40 arthropathy 10.1 ACAN TNFRSF11B ZMPSTE24
41 ovarian cystadenoma 10.1 LMNA ZMPSTE24
42 otitis media 10.0
43 ichthyosis prematurity syndrome 10.0
44 hyperglycemia 10.0
45 congenital giant megaureter 10.0
46 haemophilus influenzae 10.0
47 diabetes mellitus, noninsulin-dependent 10.0
48 xeroderma pigmentosum, variant type 10.0
49 stroke, ischemic 10.0
50 myopathy 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 104)
# 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 decreased testosterone in males 60 33 hallmark (90%) Very frequent (99-80%) HP:0008230
24 prominent scalp veins 60 33 hallmark (90%) Very frequent (99-80%) HP:0001043
25 hypoplastic facial bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0002692
26 thin bony cortex 60 33 hallmark (90%) Very frequent (99-80%) HP:0002753
27 craniofacial disproportion 60 33 hallmark (90%) Very frequent (99-80%) HP:0005461
28 absence of pubertal development 60 33 hallmark (90%) Very frequent (99-80%) HP:0008197
29 bilateral coxa valga 60 33 hallmark (90%) Very frequent (99-80%) HP:0010665
30 abnormal trabecular bone morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0100671
31 hypogonadotrophic hypogonadism 33 hallmark (90%) HP:0000044
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

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 10.37 ADIPOQ CYCS GGT1 H2AFX LAMA1 LMNA
2 growth/size/body region MP:0005378 10.32 ADIPOQ CYCS GGT1 H2AFX LAMA1 LMNA
3 hematopoietic system MP:0005397 10.27 ADIPOQ CYCS GGT1 H2AFX LMNA LMNB1
4 mortality/aging MP:0010768 10.22 ADIPOQ ANK3 CYCS GGT1 H2AFX LAMA1
5 cardiovascular system MP:0005385 10.19 ADIPOQ CYCS H2AFX LAMA1 LMNA TNFRSF11B
6 immune system MP:0005387 10.17 ADIPOQ CYCS GGT1 H2AFX LMNA NAT10
7 craniofacial MP:0005382 10.16 CYCS LMNA LMNB1 PRKDC RFC1 TNFRSF11B
8 endocrine/exocrine gland MP:0005379 10.15 ADIPOQ CYCS GGT1 H2AFX LMNA PRKDC
9 integument MP:0010771 10.06 ADIPOQ GGT1 LMNA LMNB1 LMNB2 PRKDC
10 adipose tissue MP:0005375 10.02 ADIPOQ LMNA PRKDC TWIST2 WRN ZMPSTE24
11 limbs/digits/tail MP:0005371 9.85 GGT1 LMNA TNFRSF11B TWIST2 WRN ZMPSTE24
12 muscle MP:0005369 9.8 ADIPOQ LMNA LMNB1 LMNB2 PRKDC TWIST2
13 reproductive system MP:0005389 9.76 GGT1 H2AFX LAMA1 LMNA LMNB2 PRKDC
14 respiratory system MP:0005388 9.5 ADIPOQ ANK3 LMNA LMNB1 LMNB2 PRKDC
15 skeleton MP:0005390 9.32 ADIPOQ CYCS GGT1 LMNA LMNB1 PRKDC

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
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2,Phase 2 22916-47-8 4189
4
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177 70789204
5
Sirolimus Approved, Investigational Phase 1, Phase 2,Phase 2 53123-88-9 46835353 6436030 5284616
6
Lonafarnib Investigational Phase 2,Phase 1 193275-84-2 148195
7 Anticholesteremic Agents Phase 2
8 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
9 Pharmaceutical Solutions Phase 2
10
s 1 (combination) Phase 2
11 Lipid Regulating Agents Phase 2
12 Bone Density Conservation Agents Phase 2
13 Hypolipidemic Agents Phase 2
14 Antimetabolites Phase 2
15 Anti-Infective Agents Phase 1, Phase 2,Phase 2
16 Anti-Bacterial Agents Phase 1, Phase 2,Phase 2
17 Immunologic Factors Phase 1, Phase 2,Phase 2
18 Immunosuppressive Agents Phase 1, Phase 2,Phase 2
19 Antibiotics, Antitubercular Phase 1, Phase 2,Phase 2
20 Antifungal Agents 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, Eye, Bone, Smooth Muscle, Cortex, Kidney

Publications for Hutchinson-Gilford Progeria Syndrome

Articles related to Hutchinson-Gilford Progeria Syndrome:

(show top 50) (show all 240)
# 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
Development of a CRISPR/Cas9-based therapy for Hutchinson-Gilford progeria syndrome. ( 30778239 )
2019
5
Single-dose CRISPR-Cas9 therapy extends lifespan of mice with Hutchinson-Gilford progeria syndrome. ( 30778240 )
2019
6
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
7
Hutchinson-Gilford Progeria Syndrome: Challenges at Bench and Bedside. ( 30888661 )
2019
8
Vascular smooth muscle cell loss underpins the accelerated atherosclerosis in Hutchinson-Gilford progeria syndrome. ( 30900948 )
2019
9
Generation and characterization of a novel knockin minipig model of Hutchinson-Gilford progeria syndrome. ( 30911407 )
2019
10
Hutchinson-Gilford Progeria Syndrome-Current Status and Prospects for Gene Therapy Treatment. ( 30691039 )
2019
11
Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis. ( 30902910 )
2019
12
Doubled lifespan and patient-like pathologies in progeria mice fed high-fat diet. ( 30548460 )
2019
13
Vascular Smooth Muscle-Specific Progerin Expression Accelerates Atherosclerosis and Death in a Mouse Model of Hutchinson-Gilford Progeria Syndrome. ( 29490993 )
2018
14
Cardiac Abnormalities in Patients With Hutchinson-Gilford Progeria Syndrome. ( 29466530 )
2018
15
An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome. ( 29619863 )
2018
16
Microbiome at sites of gingival recession in children with Hutchinson-Gilford progeria syndrome. ( 29520806 )
2018
17
Farnesyltransferase inhibitor and rapamycin correct aberrant genome organisation and decreaseA DNA damage respectively, in Hutchinson-Gilford progeria syndrome fibroblasts. ( 29907918 )
2018
18
Precision Medicine and Progress in the Treatment of Hutchinson-Gilford Progeria Syndrome. ( 29710145 )
2018
19
Left Ventricular Diastolic Dysfunction in Hutchinson-Gilford Progeria Syndrome. ( 29466548 )
2018
20
Abnormal nuclear morphology is independent of longevity in a zmpste24-deficient fish model of Hutchinson-Gilford progeria syndrome (HGPS). ( 29567411 )
2018
21
Differential stem cell aging kinetics in Hutchinson-Gilford progeria syndrome and Werner syndrome. ( 29476423 )
2018
22
Association of Lonafarnib Treatment vs No Treatment With Mortality Rate in Patients With Hutchinson-Gilford Progeria Syndrome. ( 29710166 )
2018
23
Mechanisms of vascular aging: What can we learn from Hutchinson-Gilford progeria syndrome? ( 29602596 )
2018
24
Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes. ( 29904107 )
2018
25
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
26
Assessment of the Aging of the Brown Adipose Tissue by 18F-FDG PET/CT Imaging in the Progeria Mouse Model Lmna-/. ( 30116163 )
2018
27
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
28
Boosting ATM activity alleviates aging and extends lifespan in a mouse model of progeria. ( 29717979 )
2018
29
Disrupting the LINC complex in smooth muscle cells reduces aortic disease in a mouse model of Hutchinson-Gilford progeria syndrome. ( 30257952 )
2018
30
Erythrocyte Senescence in a Model of Rat Displaying Hutchinson-Gilford Progeria Syndrome. ( 30003010 )
2018
31
EFFECTIVE PAIN CONTROL IN HUTCHINSON-GILFORD PROGERIA SYNDROME. ( 30013813 )
2018
32
Electrocardiographic Abnormalities in Patients With Hutchinson-Gilford Progeria Syndrome. ( 30046820 )
2018
33
Electrocardiographic Abnormalities in Patients With Hutchinson-Gilford Progeria Syndrome-Reply. ( 30046839 )
2018
34
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies. ( 30048243 )
2018
35
Epigenetic clocks galore: a new improved clock predicts age-acceleration in Hutchinson Gilford Progeria Syndrome patients. ( 30130743 )
2018
36
BK channel overexpression on plasma membrane of fibroblasts from Hutchinson-Gilford progeria syndrome. ( 30398975 )
2018
37
Telomere elongation through hTERT immortalisation leads to chromosome repositioning in control cells and genomic instability in Hutchinson-Gilford Progeria syndrome fibroblasts, expressing a novel SUN1 isoform. ( 30474255 )
2018
38
Modeling Alzheimer's disease in progeria mice. An age-related concept. ( 30319737 )
2018
39
Permanently Farnesylated Prelamin A, Progeria, and Atherosclerosis. ( 30012702 )
2018
40
Pubertal Progression in Female Adolescents with Progeria. ( 29258958 )
2018
41
Survey of plasma proteins in children with progeria pre-therapy and on-therapy with lonafarnib. ( 29342131 )
2018
42
Nucleoplasmic lamins define growth-regulating functions of lamina-associated polypeptide 2α in progeria cells. ( 29361532 )
2018
43
Progeria: case report and new drugs perspectives. ( 29377371 )
2018
44
Dual role for LAP2α in progeria cell proliferation. ( 29439159 )
2018
45
Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria. ( 29572490 )
2018
46
Diminished Canonical β-Catenin Signaling During Osteoblast Differentiation Contributes to Osteopenia in Progeria. ( 30001457 )
2018
47
Increased transport of acetyl-CoA into the endoplasmic reticulum causes a progeria-like phenotype. ( 30051577 )
2018
48
Expression of the Hutchinson-Gilford Progeria Mutation Leads to Aberrant Dentin Formation. ( 30337599 )
2018
49
A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome. ( 30573803 )
2018
50
A Tissue Engineered Blood Vessel Model of Hutchinson-Gilford Progeria Syndrome Using Human iPSC-derived Smooth Muscle Cells. ( 28811655 )
2017

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 100)
# Gene Variation Type Significance SNP ID Assembly Location
1 LMNA NM_170707.3(LMNA): c.1968+5G> C single nucleotide variant Pathogenic rs797044488 GRCh37 Chromosome 1, 156108553: 156108553
2 LMNA NM_170707.3(LMNA): c.667G> A (p.Glu223Lys) single nucleotide variant Pathogenic rs797044485 GRCh38 Chromosome 1, 156134832: 156134832
3 LMNA NM_170707.3(LMNA): c.667G> A (p.Glu223Lys) single nucleotide variant Pathogenic rs797044485 GRCh37 Chromosome 1, 156104623: 156104623
4 LMNA NM_170707.3(LMNA): c.1699_1968del270 (p.Gly567_Gln656del) deletion Pathogenic rs1553266460 GRCh38 Chromosome 1, 156138488: 156138757
5 LMNA NM_170707.3(LMNA): c.1699_1968del270 (p.Gly567_Gln656del) deletion Pathogenic rs1553266460 GRCh37 Chromosome 1, 156108279: 156108548
6 LMNA NM_170707.3(LMNA): c.1771T> A (p.Cys591Ser) single nucleotide variant Pathogenic rs797044486 GRCh38 Chromosome 1, 156138560: 156138560
7 LMNA NM_170707.3(LMNA): c.1771T> A (p.Cys591Ser) single nucleotide variant Pathogenic rs797044486 GRCh37 Chromosome 1, 156108351: 156108351
8 LMNA NM_170707.3(LMNA): c.1968G> A (p.Gln656=) single nucleotide variant Pathogenic rs797044487 GRCh38 Chromosome 1, 156138757: 156138757
9 LMNA NM_170707.3(LMNA): c.1968G> A (p.Gln656=) single nucleotide variant Pathogenic rs797044487 GRCh37 Chromosome 1, 156108548: 156108548
10 LMNA NM_170707.3(LMNA): c.1968+1G> C single nucleotide variant Pathogenic rs113436208 GRCh38 Chromosome 1, 156138758: 156138758
11 LMNA NM_170707.3(LMNA): c.1968+1G> C single nucleotide variant Pathogenic rs113436208 GRCh37 Chromosome 1, 156108549: 156108549
12 LMNA NM_170707.3(LMNA): c.1968+2T> A single nucleotide variant Pathogenic rs113860699 GRCh38 Chromosome 1, 156138759: 156138759
13 LMNA NM_170707.3(LMNA): c.1968+2T> A single nucleotide variant Pathogenic rs113860699 GRCh37 Chromosome 1, 156108550: 156108550
14 LMNA NM_170707.3(LMNA): c.1968+2T> C single nucleotide variant Pathogenic rs113860699 GRCh38 Chromosome 1, 156138759: 156138759
15 LMNA NM_170707.3(LMNA): c.1968+2T> C single nucleotide variant Pathogenic rs113860699 GRCh37 Chromosome 1, 156108550: 156108550
16 LMNA NM_170707.3(LMNA): c.1968+5G> A single nucleotide variant Pathogenic rs797044488 GRCh38 Chromosome 1, 156138762: 156138762
17 LMNA NM_170707.3(LMNA): c.1968+5G> A single nucleotide variant Pathogenic rs797044488 GRCh37 Chromosome 1, 156108553: 156108553
18 LMNA NM_170707.3(LMNA): c.1968+5G> C single nucleotide variant Pathogenic rs797044488 GRCh38 Chromosome 1, 156138762: 156138762
19 LMNA NM_170707.3(LMNA): c.1551G> A (p.Gln517=) single nucleotide variant Conflicting interpretations of pathogenicity rs41314035 GRCh37 Chromosome 1, 156106966: 156106966
20 LMNA NM_170707.3(LMNA): c.1551G> A (p.Gln517=) single nucleotide variant Conflicting interpretations of pathogenicity rs41314035 GRCh38 Chromosome 1, 156137175: 156137175
21 LMNA NM_170707.3(LMNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Pathogenic rs57318642 GRCh37 Chromosome 1, 156106994: 156106994
22 LMNA NM_170707.3(LMNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Pathogenic rs57318642 GRCh38 Chromosome 1, 156137203: 156137203
23 LMNA NM_170707.3(LMNA): c.1824C> T (p.Gly608=) single nucleotide variant Pathogenic rs58596362 GRCh37 Chromosome 1, 156108404: 156108404
24 LMNA NM_170707.3(LMNA): c.1824C> T (p.Gly608=) single nucleotide variant Pathogenic rs58596362 GRCh38 Chromosome 1, 156138613: 156138613
25 LMNA NM_170707.3(LMNA): c.1822G> A (p.Gly608Ser) single nucleotide variant Pathogenic rs61064130 GRCh37 Chromosome 1, 156108402: 156108402
26 LMNA NM_170707.3(LMNA): c.1822G> A (p.Gly608Ser) single nucleotide variant Pathogenic rs61064130 GRCh38 Chromosome 1, 156138611: 156138611
27 LMNA NM_170707.3(LMNA): c.433G> A (p.Glu145Lys) single nucleotide variant Pathogenic rs60310264 GRCh37 Chromosome 1, 156100484: 156100484
28 LMNA NM_170707.3(LMNA): c.433G> A (p.Glu145Lys) single nucleotide variant Pathogenic rs60310264 GRCh38 Chromosome 1, 156130693: 156130693
29 LMNA NM_170707.3(LMNA): c.1821G> A (p.Val607=) single nucleotide variant Pathogenic rs59886214 GRCh37 Chromosome 1, 156108401: 156108401
30 LMNA NM_170707.3(LMNA): c.1821G> A (p.Val607=) single nucleotide variant Pathogenic rs59886214 GRCh38 Chromosome 1, 156138610: 156138610
31 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh37 Chromosome 1, 156105758: 156105758
32 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh38 Chromosome 1, 156135967: 156135967
33 LMNA NM_005572.3(LMNA): c.51C> T (p.Ser17=) single nucleotide variant Benign/Likely benign rs11549668 GRCh37 Chromosome 1, 156084760: 156084760
34 LMNA NM_005572.3(LMNA): c.51C> T (p.Ser17=) single nucleotide variant Benign/Likely benign rs11549668 GRCh38 Chromosome 1, 156114969: 156114969
35 LMNA NM_170707.3(LMNA): c.810+13G> T single nucleotide variant Benign rs11264444 GRCh37 Chromosome 1, 156104779: 156104779
36 LMNA NM_170707.3(LMNA): c.810+13G> T single nucleotide variant Benign rs11264444 GRCh38 Chromosome 1, 156134988: 156134988
37 LMNA NM_005572.3(LMNA): c.1338T> C (p.Asp446=) single nucleotide variant Benign rs505058 GRCh37 Chromosome 1, 156106185: 156106185
38 LMNA NM_005572.3(LMNA): c.1338T> C (p.Asp446=) single nucleotide variant Benign rs505058 GRCh38 Chromosome 1, 156136394: 156136394
39 LMNA NM_170707.3(LMNA): c.1566C> T (p.Cys522=) single nucleotide variant Conflicting interpretations of pathogenicity rs149339264 GRCh37 Chromosome 1, 156106981: 156106981
40 LMNA NM_170707.3(LMNA): c.1566C> T (p.Cys522=) single nucleotide variant Conflicting interpretations of pathogenicity rs149339264 GRCh38 Chromosome 1, 156137190: 156137190
41 LMNA NM_005572.3(LMNA): c.1584G> A (p.Thr528=) single nucleotide variant Benign/Likely benign rs80356812 GRCh37 Chromosome 1, 156106999: 156106999
42 LMNA NM_005572.3(LMNA): c.1584G> A (p.Thr528=) single nucleotide variant Benign/Likely benign rs80356812 GRCh38 Chromosome 1, 156137208: 156137208
43 LMNA NM_005572.3(LMNA): c.1698C> T (p.His566=) single nucleotide variant Benign rs4641 GRCh37 Chromosome 1, 156107534: 156107534
44 LMNA NM_005572.3(LMNA): c.1698C> T (p.His566=) single nucleotide variant Benign rs4641 GRCh38 Chromosome 1, 156137743: 156137743
45 LMNA NM_170707.3(LMNA): c.612G> A (p.Leu204=) single nucleotide variant Benign/Likely benign rs12117552 GRCh37 Chromosome 1, 156104292: 156104292
46 LMNA NM_170707.3(LMNA): c.612G> A (p.Leu204=) single nucleotide variant Benign/Likely benign rs12117552 GRCh38 Chromosome 1, 156134501: 156134501
47 LMNA NM_170707.3(LMNA): c.811-13T> A single nucleotide variant Benign/Likely benign rs80356809 GRCh37 Chromosome 1, 156104965: 156104965
48 LMNA NM_170707.3(LMNA): c.811-13T> A single nucleotide variant Benign/Likely benign rs80356809 GRCh38 Chromosome 1, 156135174: 156135174
49 LMNA NM_005572.3(LMNA): c.861T> C (p.Ala287=) single nucleotide variant Benign rs538089 GRCh37 Chromosome 1, 156105028: 156105028
50 LMNA NM_005572.3(LMNA): c.861T> C (p.Ala287=) single nucleotide variant Benign rs538089 GRCh38 Chromosome 1, 156135237: 156135237

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:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.69 CYCS LMNA LMNB1 LMNB2 PRKDC TNFRSF11B
2
Show member pathways
12.58 CYCS LMNA LMNB1 LMNB2 TNFRSF11B
3
Show member pathways
12.41 CYCS LMNA LMNB1 LMNB2 PRKDC
4 12.3 LMNA LMNB1 LMNB2 RAN
5 12.27 H2AFX LMNA PRKDC WRN
6
Show member pathways
12.13 CYCS H2AFX PRKDC RFC1
7
Show member pathways
12.12 CYCS LMNA LMNB1 LMNB2 PRKDC
8 11.94 CYCS LMNA LMNB1 LMNB2
9 11.82 ADIPOQ LMNA ZMPSTE24
10
Show member pathways
11.81 CYCS LMNA LMNB1 LMNB2 PRKDC
11 11.09 ACAN ELN LAMA1
12 10.92 PRKDC WRN
13
Show member pathways
10.71 CYCS LMNA LMNB1 LMNB2 PRKDC
14 10.49 CYCS H2AFX PRKDC

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 9.8 ADIPOQ PRKDC RAN RFC1 ZMPSTE24
2 extracellular matrix GO:0031012 9.62 ACAN ELN LAMA1 TNFRSF11B
3 collagen-containing extracellular matrix GO:0062023 9.56 ACAN ADIPOQ ELN LAMA1
4 replication fork GO:0005657 9.43 H2AFX WRN
5 nuclear envelope GO:0005635 9.35 LMNA LMNB1 LMNB2 RAN ZMPSTE24
6 nuclear inner membrane GO:0005637 9.33 LMNB1 LMNB2 ZMPSTE24
7 male germ cell nucleus GO:0001673 9.07 H2AFX
8 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 9.77 H2AFX PRKDC UBA7 WRN ZMPSTE24
2 extracellular matrix organization GO:0030198 9.62 ACAN ELN LAMA1 TNFRSF11B
3 DNA recombination GO:0006310 9.61 H2AFX PRKDC WRN
4 regulation of glucose metabolic process GO:0010906 9.48 ADIPOQ ZMPSTE24
5 nuclear envelope organization GO:0006998 9.46 LMNA ZMPSTE24
6 double-strand break repair GO:0006302 9.43 H2AFX PRKDC WRN
7 determination of adult lifespan GO:0008340 9.4 WRN ZMPSTE24
8 DNA repair GO:0006281 9.35 H2AFX PRKDC RFC1 WRN ZMPSTE24
9 protein localization to nucleolus GO:1902570 9.16 RAN WRN
10 cellular response to gamma radiation GO:0071480 8.8 H2AFX WRN ZMPSTE24

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.62 ACAN ADIPOQ ANK3 CYCS ELN GGT1
2 double-stranded DNA binding GO:0003690 9.33 PRKDC RFC1 ZMPSTE24
3 extracellular matrix structural constituent GO:0005201 9.26 ACAN ADIPOQ ELN LAMA1

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
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