HGPS
MCID: HTC003
MIFTS: 64

Hutchinson-Gilford Progeria Syndrome (HGPS)

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

Aliases & Classifications for Hutchinson-Gilford Progeria Syndrome

MalaCards integrated aliases for Hutchinson-Gilford Progeria Syndrome:

Name: Hutchinson-Gilford Progeria Syndrome 57 12 75 24 25 59 74 37
Progeria 57 12 75 53 25 59 55 44 15 72
Hgps 57 12 53 25 59 74
Hutchinson-Gilford Syndrome 25 29 6
Hutchinson-Gilford Progeria 57 13
Hutchinson Gilford Syndrome 12 53
Syndrome, Hutchinson-Gilford Progeria 40
Hutchinson-Gilford-Progeria Syndrome 75
Hutchinson Gilford Progeria Syndrome 53
Hutchinson-Gilford Disease 12
Progeria of Childhood 25

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

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


HPO:

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


GeneReviews:

24
Penetrance Penetrance is complete.

Classifications:



External Ids:

Disease Ontology 12 DOID:3911
KEGG 37 H00601
MeSH 44 D011371
NCIt 50 C34951
SNOMED-CT 68 46238000
ICD10 33 E34.8
MESH via Orphanet 45 D011371
ICD10 via Orphanet 34 E34.8
UMLS via Orphanet 73 C0033300
Orphanet 59 ORPHA740
UMLS 72 C0033300

Summaries for Hutchinson-Gilford Progeria Syndrome

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

MalaCards based summary : Hutchinson-Gilford Progeria Syndrome, also known as progeria, is related to atypical werner syndrome and restrictive dermopathy, lethal. An important gene associated with Hutchinson-Gilford Progeria Syndrome is LMNA (Lamin A/C), and among its related pathways/superpathways are Chks in Checkpoint Regulation and Cytoskeletal Signaling. The drugs Everolimus and Sirolimus 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 : 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 : 53 Progeria is a rare condition characterized by dramatic, rapid aging beginning in childhood. Affected newborns usually appear normal but within a year, their growth rate slows significantly. Affected children develop a distinctive appearance characterized by baldness, aged-looking skin, a pinched nose, and a small face and jaw relative to head size. They also often have symptoms typically seen in much older people including joint stiffness, hip dislocations and severe, progressive cardiovascular disease. Intelligence is typically normal. The average lifespan is age 13-14; death is usually due to heart attack or stroke. Progeria is caused by mutations in the LMNA gene, but almost always results from a new mutation rather than being inherited from a parent. Management focuses on the individual signs and symptoms of the condition. Although there is currently no cure, research involving treatment is ongoing and progress is being made.

KEGG : 37
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 : 74 Hutchinson-Gilford progeria syndrome: Rare genetic disorder characterized by features reminiscent of marked premature aging.

Wikipedia : 75 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 214)
# Related Disease Score Top Affiliating Genes
1 atypical werner syndrome 33.0 WRN LMNA
2 restrictive dermopathy, lethal 31.7 ZMPSTE24 LMNA
3 mandibuloacral dysplasia with type a lipodystrophy 31.4 ZMPSTE24 LMNA
4 acroosteolysis 31.0 ZMPSTE24 LMNA
5 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 30.2 LMNA ADIPOQ
6 nestor-guillermo progeria syndrome 12.8
7 lmna-related cardiocutaneous progeria syndrome 12.3
8 obsolete: progeria-associated arthropathy 12.2
9 premature aging 12.2
10 progeroid syndrome 12.1
11 cockayne syndrome 12.0
12 progeroid short stature with pigmented nevi 11.7
13 wiedemann-rautenstrauch syndrome 11.5
14 cutis laxa, autosomal recessive, type iiia 11.3
15 autosomal recessive cutis laxa type iii 11.3
16 clark-baraitser syndrome 11.2
17 cutis laxa, autosomal recessive, type iia 11.1
18 xeroderma pigmentosum, complementation group f 11.1
19 dyskeratosis congenita 11.1
20 cockayne syndrome type i 11.1
21 cockayne syndrome type ii 11.1
22 cockayne syndrome type iii 11.1
23 alopecia 11.1
24 aging 10.9
25 systemic scleroderma 10.9
26 werner syndrome 10.7
27 cerebrovascular disease 10.7
28 bone disease 10.7
29 arteriosclerosis 10.7
30 atherosclerosis susceptibility 10.6
31 arterial calcification, generalized, of infancy, 1 10.6
32 cyanosis, transient neonatal 10.6
33 vascular disease 10.6
34 avascular necrosis 10.6
35 laminopathy 10.6
36 dowling-degos disease 1 10.6
37 ataxia-telangiectasia 10.6
38 xeroderma pigmentosum, variant type 10.6
39 ataxia and polyneuropathy, adult-onset 10.6
40 myocardial infarction 10.6
41 fontaine progeroid syndrome 10.6
42 aortic valve disease 2 10.6
43 telangiectasis 10.6
44 calcinosis 10.6
45 muscular dystrophy 10.6
46 leukodystrophy, demyelinating, adult-onset, autosomal dominant 10.5 LMNB1 LMNA
47 complete generalized lipodystrophy 10.5 ZMPSTE24 LMNA
48 ankyloglossia with or without tooth anomalies 10.4
49 otitis media 10.4
50 enhanced s-cone syndrome 10.4

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:

59 32 (show top 50) (show all 105)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
3 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
4 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
5 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
6 prominent forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0011220
7 lipoatrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100578
8 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
9 delayed eruption of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000684
10 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
11 hyperinsulinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000842
12 alopecia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001596
13 multiple joint contractures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002828
14 nasal speech 59 32 hallmark (90%) Very frequent (99-80%) HP:0001611
15 thrombocytosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001894
16 proptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000520
17 high pitched voice 59 32 hallmark (90%) Very frequent (99-80%) HP:0001620
18 infertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000789
19 sparse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0008070
20 bird-like facies 59 32 hallmark (90%) Very frequent (99-80%) HP:0000320
21 short clavicles 59 32 hallmark (90%) Very frequent (99-80%) HP:0000894
22 decreased serum estradiol 59 32 hallmark (90%) Very frequent (99-80%) HP:0008214
23 prominent scalp veins 59 32 hallmark (90%) Very frequent (99-80%) HP:0001043
24 hypoplastic facial bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0002692
25 thin bony cortex 59 32 hallmark (90%) Very frequent (99-80%) HP:0002753
26 craniofacial disproportion 59 32 hallmark (90%) Very frequent (99-80%) HP:0005461
27 absence of pubertal development 59 32 hallmark (90%) Very frequent (99-80%) HP:0008197
28 bilateral coxa valga 59 32 hallmark (90%) Very frequent (99-80%) HP:0010665
29 abnormal trabecular bone morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0100671
30 hypogonadotrophic hypogonadism 32 hallmark (90%) HP:0000044
31 decreased serum testosterone level 32 hallmark (90%) HP:0040171
32 aplastic clavicle 32 hallmark (90%) HP:0006660
33 osteoarthritis 59 32 frequent (33%) Frequent (79-30%) HP:0002758
34 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
35 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
36 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
37 aminoaciduria 59 32 frequent (33%) Frequent (79-30%) HP:0003355
38 angina pectoris 59 32 frequent (33%) Frequent (79-30%) HP:0001681
39 ovoid vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0003300
40 thin skin 59 32 frequent (33%) Frequent (79-30%) HP:0000963
41 lack of skin elasticity 59 32 frequent (33%) Frequent (79-30%) HP:0100679
42 hypohidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000966
43 hepatic steatosis 59 32 frequent (33%) Frequent (79-30%) HP:0001397
44 premature graying of hair 59 32 frequent (33%) Frequent (79-30%) HP:0002216
45 keratoconjunctivitis sicca 59 32 frequent (33%) Frequent (79-30%) HP:0001097
46 thin ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000883
47 aplasia/hypoplasia of the earlobes 59 32 frequent (33%) Frequent (79-30%) HP:0009906
48 hypotrichosis 59 32 frequent (33%) Frequent (79-30%) HP:0001006
49 hypodontia 59 32 frequent (33%) Frequent (79-30%) HP:0000668
50 nail dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002164

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
micrognathia
midface hypoplasia

Skin Nails Hair Skin:
absence of subcutaneous fat

Skeletal:
generalized osteoporosis with pathologic fractures

Skin Nails Hair Hair:
alopecia

Growth Other:
postnatal onset growth retardation

Clinical features from OMIM:

176670

MGI Mouse Phenotypes related to Hutchinson-Gilford Progeria Syndrome:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.28 ADIPOQ CYCS ENPP1 GGT1 LMNA LMNB1
2 growth/size/body region MP:0005378 10.27 ADIPOQ CYCS ENPP1 GGT1 LMNA LMNB1
3 mortality/aging MP:0010768 10.24 ADIPOQ ANK3 CYCS ENPP1 GGT1 LMNA
4 hematopoietic system MP:0005397 10.22 ADIPOQ CYCS GGT1 LMNA LMNB1 NAT10
5 immune system MP:0005387 10.16 ADIPOQ CYCS ENPP1 GGT1 LMNA NAT10
6 craniofacial MP:0005382 10.13 CYCS LMNA LMNB1 PRKDC RFC1 TWIST2
7 integument MP:0010771 10.13 ADIPOQ ENPP1 GGT1 LMNA LMNB1 LMNB2
8 endocrine/exocrine gland MP:0005379 10.11 ADIPOQ CYCS GGT1 LMNA PRKDC TWIST2
9 adipose tissue MP:0005375 10.09 ADIPOQ ENPP1 LMNA PRKDC TWIST2 WRN
10 muscle MP:0005369 9.92 ADIPOQ ENPP1 LMNA LMNB1 LMNB2 PRKDC
11 limbs/digits/tail MP:0005371 9.88 ENPP1 GGT1 LMNA TWIST2 WRN ZMPSTE24
12 renal/urinary system MP:0005367 9.8 ADIPOQ ANK3 ENPP1 GGT1 LMNA PRKDC
13 respiratory system MP:0005388 9.7 ADIPOQ ANK3 LMNA LMNB1 LMNB2 PRKDC
14 skeleton MP:0005390 9.65 ADIPOQ CYCS ENPP1 GGT1 LMNA LMNB1
15 vision/eye MP:0005391 9.17 ENPP1 GGT1 LMNA PRKDC PRPS1 TWIST2

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
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177 70789204
2
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 6436030 5284616 46835353
3
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
4
Zoledronic Acid Approved Phase 2 118072-93-8 68740
5
Pravastatin Approved Phase 2 81093-37-0 54687
6
Lonafarnib Investigational Phase 2 193275-84-2 148195
7
s 1 (combination) Phase 2
8 Pharmaceutical Solutions Phase 2
9 Anti-Infective Agents Phase 1, Phase 2
10 Antifungal Agents Phase 1, Phase 2
11 Anti-Bacterial Agents Phase 1, Phase 2
12 Immunosuppressive Agents Phase 1, Phase 2
13 Antibiotics, Antitubercular Phase 1, Phase 2
14 Immunologic Factors 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 Bone Density Conservation Agents Phase 2
20 Antimetabolites Phase 2
21 Antiviral Agents
22 Anti-Retroviral 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 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:

41
Skin, Heart, Bone, Eye, Smooth Muscle, Brain, Cortex

Publications for Hutchinson-Gilford Progeria Syndrome

Articles related to Hutchinson-Gilford Progeria Syndrome:

(show top 50) (show all 1380)
# Title Authors PMID Year
1
Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes. 9 38 4 8 71
17469202 2007
2
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). 9 38 4 8 71
12768443 2003
3
Truncated prelamin A expression in HGPS-like patients: a transcriptional study. 38 4 8 71
25649378 2015
4
Somatic and gonadal mosaicism in Hutchinson-Gilford progeria. 38 4 8 71
15793835 2005
5
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. 38 4 8 71
12714972 2003
6
Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition. 9 38 8 71
16126733 2005
7
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. 4 8 71
15317753 2004
8
Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. 38 8 71
15184648 2004
9
A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome. 38 4 8
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. 38 4 8
22065502 2011
11
Hutchinson-Gilford progeria syndrome: review of the phenotype. 38 4 8
16838330 2006
12
LMNA mutations in atypical Werner's syndrome. 8 71
12927431 2003
13
Lamin a truncation in Hutchinson-Gilford progeria. 38 4 8
12702809 2003
14
Increased expression of the Hutchinson-Gilford progeria syndrome truncated lamin A transcript during cell aging. 9 38 71
19172989 2009
15
Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation. 9 38 8
19283854 2009
16
Reversible phenotype in a mouse model of Hutchinson-Gilford progeria syndrome. 9 38 8
18708427 2008
17
Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation. 9 38 8
16825282 2006
18
Distinct structural and mechanical properties of the nuclear lamina in Hutchinson-Gilford progeria syndrome. 9 38 8
16801550 2006
19
Inhibiting farnesylation reverses the nuclear morphology defect in a HeLa cell model for Hutchinson-Gilford progeria syndrome. 9 38 8
16186497 2005
20
Paternal origin of LMNA mutations in Hutchinson-Gilford progeria. 9 38 71
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. 4 71
12629077 2003
22
Chemical inhibition of NAT10 corrects defects of laminopathic cells. 38 8
24786082 2014
23
LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset. 38 8
23666920 2013
24
Correlated alterations in genome organization, histone methylation, and DNA-lamin A/C interactions in Hutchinson-Gilford progeria syndrome. 38 8
23152449 2013
25
Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells. 38 8
21715679 2011
26
Recapitulation of premature ageing with iPSCs from Hutchinson-Gilford progeria syndrome. 38 8
21346760 2011
27
Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging. 38 8
18587406 2008
28
Phenotype and course of Hutchinson-Gilford progeria syndrome. 38 8
18256394 2008
29
A farnesyltransferase inhibitor improves disease phenotypes in mice with a Hutchinson-Gilford progeria syndrome mutation. 38 8
16862216 2006
30
Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging. 38 71
16738054 2006
31
A protein farnesyltransferase inhibitor ameliorates disease in a mouse model of progeria. 38 8
16484451 2006
32
Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson-Gilford progeria syndrome. 38 8
16492728 2006
33
Ankyrin G overexpression in Hutchinson-Gilford progeria syndrome fibroblasts identified through biological filtering of expression profiles. 38 8
17033732 2006
34
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. 9 38 4
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. 38 71
15342704 2004
36
Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome. 38 8
15286156 2004
37
Hutchinson-Gilford Progeria Syndrome 38 71
20301300 2003
38
Drawing the line in progeria syndromes. 38 8
12927424 2003
39
PRELP, collagen, and a theory of Hutchinson-Gilford progeria. 38 8
12437997 2003
40
Del(1)(q23) in a patient with Hutchinson-Gilford progeria. 38 8
12439901 2002
41
Severe bone changes in a case of Hutchinson-Gilford syndrome. 38 8
12381448 2002
42
Hutchinson-Gilford progeria: familial occurrence. 38 8
2389799 1990
43
Hutchinson-Gilford progeria syndrome: report of a Libyan family and evidence of autosomal recessive inheritance. 38 8
2721021 1989
44
Evidence for autosomal recessive inheritance of progeria (Hutchinson Gilford). 38 8
3228132 1988
45
[Neonatal Hutchinson-Gilford progeria with cutaneous sclerodermiform involvement]. 38 8
3579140 1987
46
Hutchinson-Gilford progeria syndrome in a 45-year-old man. 38 8
3728539 1986
47
Decreased sensitivity of old and progeric human fibroblasts to a preparation of factors with insulinlike activity. 38 8
7026617 1981
48
Thermolabile enzymes in progeria and Werner syndrome: evidence contrary to the protein error hypothesis. 38 8
6930821 1980
49
Detection of HLA antigens on progeria syndrome fibroblasts. 38 8
6988117 1980
50
Human mutations affecting aging--a review. 38 8
155763 1979

Variations for Hutchinson-Gilford Progeria Syndrome

ClinVar genetic disease variations for Hutchinson-Gilford Progeria Syndrome:

6 (show top 50) (show all 54)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LMNA NM_005572.3(LMNA): c.1445G> A (p.Arg482Gln) single nucleotide variant Pathogenic rs11575937 1:156106776-156106776 1:156136985-156136985
2 LMNA NM_005572.3(LMNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Pathogenic rs57318642 1:156106994-156106994 1:156137203-156137203
3 LMNA NM_170707.4(LMNA): c.1824C> T (p.Gly608=) single nucleotide variant Pathogenic rs58596362 1:156108404-156108404 1:156138613-156138613
4 LMNA NM_170707.4(LMNA): c.1822G> A (p.Gly608Ser) single nucleotide variant Pathogenic rs61064130 1:156108402-156108402 1:156138611-156138611
5 LMNA NM_005572.3(LMNA): c.433G> A (p.Glu145Lys) single nucleotide variant Pathogenic rs60310264 1:156100484-156100484 1:156130693-156130693
6 LMNA NM_170707.4(LMNA): c.1821G> A (p.Val607=) single nucleotide variant Pathogenic rs59886214 1:156108401-156108401 1:156138610-156138610
7 LMNA NM_005572.3(LMNA): c.1619T> C (p.Met540Thr) single nucleotide variant Pathogenic rs267607547 1:156107455-156107455 1:156137664-156137664
8 LMNA NM_170707.4(LMNA): c.1868C> G (p.Thr623Ser) single nucleotide variant Pathogenic rs59267781 1:156108448-156108448 1:156138657-156138657
9 LMNA NM_170707.4(LMNA): c.1968+1G> A single nucleotide variant Pathogenic rs113436208 1:156108549-156108549 1:156138758-156138758
10 LMNA NM_005572.3(LMNA): c.667G> A (p.Glu223Lys) single nucleotide variant Pathogenic rs797044485 1:156104623-156104623 1:156134832-156134832
11 LMNA NM_170707.4(LMNA): c.1700_1968+1del deletion Pathogenic rs1553266460 1:156108279-156108548 1:156138488-156138757
12 LMNA NM_170707.4(LMNA): c.1771T> A (p.Cys591Ser) single nucleotide variant Pathogenic rs797044486 1:156108351-156108351 1:156138560-156138560
13 LMNA NM_170707.4(LMNA): c.1968G> A (p.Gln656=) single nucleotide variant Pathogenic rs797044487 1:156108548-156108548 1:156138757-156138757
14 LMNA NM_170707.4(LMNA): c.1968+1G> C single nucleotide variant Pathogenic rs113436208 1:156108549-156108549 1:156138758-156138758
15 LMNA NM_170707.4(LMNA): c.1968+2T> A single nucleotide variant Pathogenic rs113860699 1:156108550-156108550 1:156138759-156138759
16 LMNA NM_170707.4(LMNA): c.1968+2T> C single nucleotide variant Pathogenic rs113860699 1:156108550-156108550 1:156138759-156138759
17 LMNA NM_170707.4(LMNA): c.1968+5G> A single nucleotide variant Pathogenic rs797044488 1:156108553-156108553 1:156138762-156138762
18 LMNA NM_170707.4(LMNA): c.1968+5G> C single nucleotide variant Pathogenic rs797044488 1:156108553-156108553 1:156138762-156138762
19 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 1:156105758-156105758 1:156135967-156135967
20 LMNA NM_005572.3(LMNA): c.1566C> T (p.Cys522=) single nucleotide variant Conflicting interpretations of pathogenicity rs149339264 1:156106981-156106981 1:156137190-156137190
21 LMNA NM_005572.3(LMNA): c.1149G> A (p.Glu383=) single nucleotide variant Conflicting interpretations of pathogenicity rs267607603 1:156105904-156105904 1:156136113-156136113
22 LMNA NM_005572.3(LMNA): c.936+12C> T single nucleotide variant Conflicting interpretations of pathogenicity rs199881992 1:156105115-156105115 1:156135324-156135324
23 LMNA NM_005572.3(LMNA): c.1488G> A (p.Thr496=) single nucleotide variant Conflicting interpretations of pathogenicity rs375516745 1:156106819-156106819 1:156137028-156137028
24 LMNA NM_005572.3(LMNA): c.1551G> A (p.Gln517=) single nucleotide variant Conflicting interpretations of pathogenicity rs41314035 1:156106966-156106966 1:156137175-156137175
25 LMNA NM_005572.3(LMNA): c.1303C> T (p.Arg435Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150840924 1:156106150-156106150 1:156136359-156136359
26 LMNA NM_005572.3(LMNA): c.294G> A (p.Glu98=) single nucleotide variant Conflicting interpretations of pathogenicity rs886045363 1:156085003-156085003 1:156115212-156115212
27 LMNA NM_005572.3(LMNA): c.-109G> T single nucleotide variant Uncertain significance rs886045360 1:156084601-156084601 1:156114810-156114810
28 LMNA NM_005572.3(LMNA): c.1487C> T (p.Thr496Met) single nucleotide variant Uncertain significance rs200466188 1:156106818-156106818 1:156137027-156137027
29 LMNA NM_005572.3(LMNA): c.-138T> C single nucleotide variant Uncertain significance rs886045359 1:156084572-156084572 1:156114781-156114781
30 LMNA NM_005572.3(LMNA): c.-62C> A single nucleotide variant Uncertain significance rs886045361 1:156084648-156084648 1:156114857-156114857
31 LMNA NM_005572.3(LMNA): c.295C> A (p.Arg99Ser) single nucleotide variant Uncertain significance rs886045364 1:156085004-156085004 1:156115213-156115213
32 LMNA NM_005572.3(LMNA): c.-5C> A single nucleotide variant Uncertain significance rs886045362 1:156084705-156084705 1:156114914-156114914
33 LMNA NM_005572.3(LMNA): c.514-11C> T single nucleotide variant Uncertain significance rs886045365 1:156104183-156104183 1:156134392-156134392
34 LMNA NM_005572.3(LMNA): c.985C> A (p.Arg329Ser) single nucleotide variant Uncertain significance rs775159300 1:156105740-156105740 1:156135949-156135949
35 LMNA NM_005572.3(LMNA): c.-226C> T single nucleotide variant Uncertain significance rs886045354 1:156084484-156084484 1:156114693-156114693
36 LMNA NM_005572.3(LMNA): c.-225C> A single nucleotide variant Uncertain significance rs886045355 1:156084485-156084485 1:156114694-156114694
37 LMNA NM_005572.3(LMNA): c.-210T> C single nucleotide variant Uncertain significance rs886045356 1:156084500-156084500 1:156114709-156114709
38 LMNA NM_005572.3(LMNA): c.-183C> A single nucleotide variant Uncertain significance rs886045357 1:156084527-156084527 1:156114736-156114736
39 LMNA NM_005572.3(LMNA): c.-142C> A single nucleotide variant Uncertain significance rs886045358 1:156084568-156084568 1:156114777-156114777
40 LMNA NM_005572.3(LMNA): c.1381-5G> A single nucleotide variant Uncertain significance rs730880133 1:156106707-156106707 1:156136916-156136916
41 LMNA NM_005572.3(LMNA): c.1243G> A (p.Val415Ile) single nucleotide variant Uncertain significance rs267607606 1:156106090-156106090 1:156136299-156136299
42 LMNA NM_170707.4(LMNA): c.1698+124C> T single nucleotide variant Uncertain significance rs1057516022 1:156107658-156107658 1:156137867-156137867
43 LMNA NM_170707.4(LMNA): c.1756G> A (p.Val586Met) single nucleotide variant Uncertain significance rs758048062 1:156108336-156108336 1:156138545-156138545
44 LMNA NM_005572.3(LMNA): c.-128T> C single nucleotide variant Likely benign rs80356803 1:156084582-156084582 1:156114791-156114791
45 LMNA NM_170707.4(LMNA): c.1698+57G> A single nucleotide variant Likely benign rs557334569 1:156107591-156107591 1:156137800-156137800
46 LMNA NM_005572.3(LMNA): c.-88G> T single nucleotide variant Likely benign rs115800510 1:156084622-156084622 1:156114831-156114831
47 LMNA NM_005572.3(LMNA): c.1584G> A (p.Thr528=) single nucleotide variant Benign/Likely benign rs80356812 1:156106999-156106999 1:156137208-156137208
48 LMNA NM_005572.3(LMNA): c.612G> A (p.Leu204=) single nucleotide variant Benign/Likely benign rs12117552 1:156104292-156104292 1:156134501-156134501
49 LMNA NM_005572.3(LMNA): c.811-13T> A single nucleotide variant Benign/Likely benign rs80356809 1:156104965-156104965 1:156135174-156135174
50 LMNA NM_005572.3(LMNA): c.51C> T (p.Ser17=) single nucleotide variant Benign/Likely benign rs11549668 1:156084760-156084760 1:156114969-156114969

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

74
# 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

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 9.65 ZMPSTE24 RFC1 RAN PRKDC ADIPOQ
2 nuclear envelope GO:0005635 9.35 ZMPSTE24 RAN LMNB2 LMNB1 LMNA
3 nuclear inner membrane GO:0005637 9.33 ZMPSTE24 LMNB2 LMNB1
4 lamin filament GO:0005638 8.8 LMNB2 LMNB1 LMNA

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

# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.73 ZMPSTE24 WRN RFC1 PRKDC
2 regulation of glucose metabolic process GO:0010906 9.4 ZMPSTE24 ADIPOQ
3 regulation of bone mineralization GO:0030500 9.37 ZMPSTE24 ENPP1
4 cellular response to insulin stimulus GO:0032869 9.33 PRKDC ENPP1 ADIPOQ
5 nuclear envelope organization GO:0006998 9.32 ZMPSTE24 LMNA
6 determination of adult lifespan GO:0008340 8.96 ZMPSTE24
7 negative regulation of protein autophosphorylation GO:0031953 8.96 ENPP1 ADIPOQ
8 protein localization to nucleolus GO:1902570 8.62 WRN RAN

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 9.58 ZMPSTE24 WRN TWIST2 RFC1 RAN PRPS1
2 double-stranded DNA binding GO:0003690 9.33 ZMPSTE24 RFC1 PRKDC
3 extracellular matrix structural constituent GO:0005201 9.13 ELN ADIPOQ ACAN

Sources for Hutchinson-Gilford Progeria Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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