MCID: HTC003
MIFTS: 62

Hutchinson-Gilford Progeria Syndrome

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

Aliases & Classifications for Hutchinson-Gilford Progeria Syndrome

MalaCards integrated aliases for Hutchinson-Gilford Progeria Syndrome:

Name: Hutchinson-Gilford Progeria Syndrome 57 12 24 25 59 75 37
Progeria 57 12 76 53 25 59 55 44 15 73
Hgps 57 12 53 25 59 75
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 53
Hutchinson-Gilford Disease 12
Progeria of Childhood 25
Hutchinson-Gilford 76

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 recessive inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance is complete...

Classifications:



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 nestor-guillermo progeria syndrome. An important gene associated with Hutchinson-Gilford Progeria Syndrome is LMNA (Lamin A/C), and among its related pathways/superpathways are DNA Damage and BMP Pathway. 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 osteoarthritis and hypertension

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.

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.

UniProtKB/Swiss-Prot : 75 Hutchinson-Gilford progeria syndrome: Rare genetic disorder characterized by features reminiscent of marked premature aging.

Wikipedia : 76 Progeria is an extremely rare autosomal dominant genetic disorder in which symptoms resembling aspects... more...

GeneReviews: NBK1121

Related Diseases for Hutchinson-Gilford Progeria Syndrome

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

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

Human phenotypes related to Hutchinson-Gilford Progeria Syndrome:

59 32 (show top 50) (show all 104)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 59 32 frequent (33%) Frequent (79-30%) HP:0002758
2 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
3 osteopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000938
4 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
5 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
6 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
7 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
8 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
9 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
10 delayed puberty 59 32 very rare (1%) Very rare (<4-1%) HP:0000823
11 aminoaciduria 59 32 frequent (33%) Frequent (79-30%) HP:0003355
12 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
13 prominent forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0011220
14 lipoatrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100578
15 hypertriglyceridemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002155
16 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
17 angina pectoris 59 32 frequent (33%) Frequent (79-30%) HP:0001681
18 transient ischemic attack 59 32 occasional (7.5%) Occasional (29-5%) HP:0002326
19 acanthosis nigricans 59 32 occasional (7.5%) Occasional (29-5%) HP:0000956
20 ovoid vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0003300
21 delayed eruption of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000684
22 thin skin 59 32 frequent (33%) Frequent (79-30%) HP:0000963
23 lack of skin elasticity 59 32 frequent (33%) Frequent (79-30%) HP:0100679
24 hypohidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000966
25 growth delay 59 32 Very frequent (99-80%) HP:0001510
26 hepatic steatosis 59 32 frequent (33%) Frequent (79-30%) HP:0001397
27 hyperinsulinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000842
28 alopecia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001596
29 prolonged qt interval 59 32 occasional (7.5%) Occasional (29-5%) HP:0001657
30 premature graying of hair 59 32 frequent (33%) Frequent (79-30%) HP:0002216
31 hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002827
32 keratoconjunctivitis sicca 59 32 frequent (33%) Frequent (79-30%) HP:0001097
33 thin ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000883
34 left ventricular hypertrophy 59 32 very rare (1%) Very rare (<4-1%) HP:0001712
35 dental crowding 59 32 occasional (7.5%) Occasional (29-5%) HP:0000678
36 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
37 hypotrichosis 59 32 frequent (33%) Frequent (79-30%) HP:0001006
38 nasal speech 59 32 hallmark (90%) Very frequent (99-80%) HP:0001611
39 thrombocytosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001894
40 hypodontia 59 32 frequent (33%) Frequent (79-30%) HP:0000668
41 nail dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002164
42 proptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000520
43 thin vermilion border 59 32 frequent (33%) Frequent (79-30%) HP:0000233
44 high pitched voice 59 32 hallmark (90%) Very frequent (99-80%) HP:0001620
45 infertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000789
46 sparse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0008070
47 absent eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0000561
48 hypoplastic nipples 59 32 frequent (33%) Frequent (79-30%) HP:0002557
49 bird-like facies 59 32 hallmark (90%) Very frequent (99-80%) HP:0000320
50 aplasia/hypoplasia of the earlobes 59 32 frequent (33%) Frequent (79-30%) HP:0009906

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

26 (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:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.43 ADIPOQ CYCS ENPP1 GGT1 H2AFX LAMA1
2 cellular MP:0005384 10.4 H2AFX LAMA1 LMNA LMNB1 PRKDC ROCK1
3 behavior/neurological MP:0005386 10.35 ADIPOQ ANK3 CYCS ENPP1 GGT1 LAMA1
4 hematopoietic system MP:0005397 10.32 ROCK1 TNFRSF11B TWIST2 WRN ZMPSTE24 ADIPOQ
5 cardiovascular system MP:0005385 10.31 ROCK1 TNFRSF11B TWIST2 WRN ZMPSTE24 ADIPOQ
6 mortality/aging MP:0010768 10.31 ADIPOQ ANK3 CYCS ENPP1 GGT1 H2AFX
7 homeostasis/metabolism MP:0005376 10.27 ADIPOQ ENPP1 GGT1 H2AFX LMNA LMNB1
8 immune system MP:0005387 10.26 ZMPSTE24 ADIPOQ CYCS ENPP1 GGT1 H2AFX
9 craniofacial MP:0005382 10.2 CYCS LMNA LMNB1 PRKDC RFC1 TNFRSF11B
10 adipose tissue MP:0005375 10.19 ADIPOQ ENPP1 LMNA PRKDC ROCK1 TWIST2
11 endocrine/exocrine gland MP:0005379 10.19 H2AFX LMNA PRKDC TWIST2 WRN ZMPSTE24
12 integument MP:0010771 10.16 ADIPOQ ENPP1 GGT1 LMNA LMNB1 PRKDC
13 nervous system MP:0003631 10.02 ANK3 CYCS ENPP1 LAMA1 LMNA LMNB1
14 muscle MP:0005369 9.97 ADIPOQ ENPP1 LMNA LMNB1 PRKDC ROCK1
15 limbs/digits/tail MP:0005371 9.91 TWIST2 WRN ZMPSTE24 GGT1 LMNA TNFRSF11B
16 renal/urinary system MP:0005367 9.86 ADIPOQ ANK3 ENPP1 GGT1 LMNA PRKDC
17 skeleton MP:0005390 9.77 LMNA LMNB1 PRKDC ROCK1 SPG7 TNFRSF11B
18 respiratory system MP:0005388 9.7 ADIPOQ ANK3 LMNA LMNB1 PRKDC ROCK1
19 vision/eye MP:0005391 9.28 ENPP1 GGT1 H2AFX LAMA1 LMNA PRKDC

Drugs & Therapeutics for Hutchinson-Gilford Progeria Syndrome

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

(show all 20)
# 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
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
4
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
5
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
6 Anticholesteremic Agents Phase 2
7 Antimetabolites Phase 2
8 Bone Density Conservation Agents Phase 2
9 Diphosphonates Phase 2
10 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
11 Hypolipidemic Agents Phase 2
12 Lipid Regulating Agents Phase 2
13 Pharmaceutical Solutions Phase 2
14
s 1 (combination) Phase 2
15 Anti-Bacterial Agents Phase 1, Phase 2
16 Antibiotics, Antitubercular Phase 1, Phase 2
17 Antifungal Agents Phase 1, Phase 2
18 Anti-Infective Agents Phase 1, Phase 2
19 Immunosuppressive Agents Phase 1, Phase 2
20
Menthol Approved Not Applicable 2216-51-5 16666

Interventional clinical trials:


# 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 Clinical Studies of Progeria Completed NCT00094393
7 Accelerated Aging, HIV Infection, Antiretroviral Therapies Completed NCT01038999
8 Identification of a New Gene Involved in Hereditary Lipodystrophy Completed NCT02056912 Not Applicable
9 The LD Lync Study - Natural History Study of Genetic Lipodystrophy Syndromes Recruiting NCT03087253

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, Eye, Bone, Cortex, Smooth Muscle

Publications for Hutchinson-Gilford Progeria Syndrome

Articles related to Hutchinson-Gilford Progeria Syndrome:

(show top 50) (show all 180)
# Title Authors Year
1
Vascular Smooth Muscle-Specific Progerin Expression Accelerates Atherosclerosis and Death in a Mouse Model of Hutchinson-Gilford Progeria Syndrome. ( 29490993 )
2018
2
Cardiac Abnormalities in Patients With Hutchinson-Gilford Progeria Syndrome. ( 29466530 )
2018
3
An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome. ( 29619863 )
2018
4
Microbiome at sites of gingival recession in children with Hutchinson-Gilford progeria syndrome. ( 29520806 )
2018
5
Farnesyltransferase inhibitor and rapamycin correct aberrant genome organisation and decreaseA DNA damage respectively, in Hutchinson-Gilford progeria syndrome fibroblasts. ( 29907918 )
2018
6
Precision Medicine and Progress in the Treatment of Hutchinson-Gilford Progeria Syndrome. ( 29710145 )
2018
7
Left Ventricular Diastolic Dysfunction in Hutchinson-Gilford Progeria Syndrome. ( 29466548 )
2018
8
Abnormal nuclear morphology is independent of longevity in a zmpste24-deficient fish model of Hutchinson-Gilford progeria syndrome (HGPS). ( 29567411 )
2018
9
Differential stem cell aging kinetics in Hutchinson-Gilford progeria syndrome and Werner syndrome. ( 29476423 )
2018
10
Association of Lonafarnib Treatment vs No Treatment With Mortality Rate in Patients With Hutchinson-Gilford Progeria Syndrome. ( 29710166 )
2018
11
Mechanisms of vascular aging: What can we learn from Hutchinson-Gilford progeria syndrome? ( 29602596 )
2018
12
Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes. ( 29904107 )
2018
13
A Tissue Engineered Blood Vessel Model of Hutchinson-Gilford Progeria Syndrome Using Human iPSC-derived Smooth Muscle Cells. ( 28811655 )
2017
14
Progerin-Induced Replication Stress Facilitates Premature Senescence in Hutchinson Gilford Progeria Syndrome. ( 28483909 )
2017
15
The clinical characteristics of Asian patients with classical-type Hutchinson-Gilford progeria syndrome. ( 28878338 )
2017
16
Metformin alleviates ageing cellular phenotypes in Hutchinson-Gilford progeria syndrome dermal fibroblasts. ( 28192606 )
2017
17
Chemical screening identifies ROCK as a target for recovering mitochondrial function in Hutchinson-Gilford progeria syndrome. ( 28317242 )
2017
18
Aging in the Cardiovascular System: Lessons from Hutchinson-Gilford Progeria Syndrome. ( 28934587 )
2017
19
Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease. ( 28660486 )
2017
20
Redox imbalance in a model of rat mimicking Hutchinson-Gilford progeria syndrome. ( 28728841 )
2017
21
Emerging candidate treatment strategies for Hutchinson-Gilford progeria syndrome. ( 29127216 )
2017
22
Loss of H3K9me3 Correlates with ATM Activation and Histone H2AX Phosphorylation Deficiencies in Hutchinson-Gilford Progeria Syndrome. ( 27907109 )
2016
23
A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome. ( 27920058 )
2016
24
Cardiac electrical defects in progeroid mice and Hutchinson-Gilford progeria syndrome patients with nuclear lamina alterations. ( 27799555 )
2016
25
Metformin decreases progerin expression and alleviates pathological defects of Hutchinson-Gilford progeria syndrome cells. ( 28721276 )
2016
26
Interruption of progerin-lamin A/C binding ameliorates Hutchinson-Gilford progeria syndrome phenotype. ( 27617860 )
2016
27
Clinical Trial of the Protein Farnesylation Inhibitors Lonafarnib, Pravastatin, and Zoledronic Acid in Children With Hutchinson-Gilford Progeria Syndrome. ( 27400896 )
2016
28
Hutchinson-Gilford Progeria Syndrome: A premature aging disease caused by LMNA gene mutations. ( 27374873 )
2016
29
Vitamin D receptor signaling improves Hutchinson-Gilford progeria syndrome cellular phenotypes. ( 27145372 )
2016
30
Anaesthesia and orphan disease: Hutchinson-Gilford progeria syndrome, a case report and summary of previous cases. ( 27749465 )
2016
31
Restoring SIRT6 Expression in Hutchinson-Gilford Progeria Syndrome Cells Impedes Premature Senescence and Formation of Dysmorphic Nuclei. ( 25765721 )
2015
32
Hutchinson-Gilford progeria syndrome. ( 26564085 )
2015
33
Hutchinson-Gilford progeria syndrome as a model for vascular aging. ( 26330290 )
2015
34
DNA repair defects and genome instability in Hutchinson-Gilford Progeria Syndrome. ( 26079711 )
2015
35
Treatment considerations in hutchinson-gilford progeria syndrome: a case report. ( 25823488 )
2015
36
Reactivation of latently infected HIV-1 viral reservoirs and correction of aberrant alternative splicing in the LMNA gene via AMPK activation: Common mechanism of action linking HIV-1 latency and Hutchinson-Gilford progeria syndrome. ( 26115946 )
2015
37
Pluripotent stem cells to model Hutchinson-Gilford progeria syndrome (HGPS): Current trends and future perspectives for drug discovery. ( 26474742 )
2015
38
Hutchinson-Gilford progeria syndrome. ( 26753148 )
2015
39
Vascular disease modeling using induced pluripotent stem cells: Focus in Hutchinson-Gilford Progeria Syndrome. ( 26474704 )
2015
40
Can Hutchinson-Gilford progeria syndrome be cured in the future? ( 25984432 )
2015
41
Hutchinson-Gilford Progeria Syndrome Caused by an LMNA Mutation: A Case Report. ( 25556323 )
2015
42
Signaling pathway activation drift during aging: Hutchinson-Gilford Progeria Syndrome fibroblasts are comparable to normal middle-age and old-age cells. ( 25587796 )
2015
43
Transgene silencing of the Hutchinson-Gilford progeria syndrome mutation results in a reversible bone phenotype, whereas resveratrol treatment does not show overall beneficial effects. ( 25877214 )
2015
44
Clinical and radiographic features of Hutchinson-Gilford progeria syndrome: A case report. ( 24653988 )
2014
45
Impact of farnesylation inhibitors on survival in Hutchinson-Gilford progeria syndrome. ( 24795390 )
2014
46
Dental and craniofacial characteristics in a patient with Hutchinson-Gilford progeria syndrome. ( 25001855 )
2014
47
Initial cutaneous manifestations of Hutchinson-Gilford progeria syndrome. ( 24456199 )
2014
48
Hutchinson - Gilford progeria syndrome: A rare case report. ( 25396134 )
2014
49
Interfacial binding and aggregation of lamin A tail domains associated with Hutchinson-Gilford progeria syndrome. ( 25194277 )
2014
50
Epigenetic involvement in Hutchinson-Gilford progeria syndrome: a mini-review. ( 24603298 )
2014

Variations for Hutchinson-Gilford Progeria Syndrome

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

75
# 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 76)
# Gene Variation Type Significance SNP ID Assembly Location
1 LMNA NM_170707.3(LMNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Pathogenic rs57318642 GRCh37 Chromosome 1, 156106994: 156106994
2 LMNA NM_170707.3(LMNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Pathogenic rs57318642 GRCh38 Chromosome 1, 156137203: 156137203
3 LMNA NM_170707.3(LMNA): c.1824C> T (p.Gly608=) single nucleotide variant Pathogenic rs58596362 GRCh37 Chromosome 1, 156108404: 156108404
4 LMNA NM_170707.3(LMNA): c.1824C> T (p.Gly608=) single nucleotide variant Pathogenic rs58596362 GRCh38 Chromosome 1, 156138613: 156138613
5 LMNA NM_170707.3(LMNA): c.1822G> A (p.Gly608Ser) single nucleotide variant Pathogenic rs61064130 GRCh37 Chromosome 1, 156108402: 156108402
6 LMNA NM_170707.3(LMNA): c.1822G> A (p.Gly608Ser) single nucleotide variant Pathogenic rs61064130 GRCh38 Chromosome 1, 156138611: 156138611
7 LMNA NM_170707.3(LMNA): c.433G> A (p.Glu145Lys) single nucleotide variant Pathogenic rs60310264 GRCh37 Chromosome 1, 156100484: 156100484
8 LMNA NM_170707.3(LMNA): c.433G> A (p.Glu145Lys) single nucleotide variant Pathogenic rs60310264 GRCh38 Chromosome 1, 156130693: 156130693
9 LMNA NM_170707.3(LMNA): c.1821G> A (p.Val607=) single nucleotide variant Pathogenic rs59886214 GRCh37 Chromosome 1, 156108401: 156108401
10 LMNA NM_170707.3(LMNA): c.1821G> A (p.Val607=) single nucleotide variant Pathogenic rs59886214 GRCh38 Chromosome 1, 156138610: 156138610
11 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh37 Chromosome 1, 156105758: 156105758
12 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh38 Chromosome 1, 156135967: 156135967
13 LMNA NM_170707.3(LMNA): c.1619T> C (p.Met540Thr) single nucleotide variant Pathogenic rs267607547 GRCh37 Chromosome 1, 156107455: 156107455
14 LMNA NM_170707.3(LMNA): c.1619T> C (p.Met540Thr) single nucleotide variant Pathogenic rs267607547 GRCh38 Chromosome 1, 156137664: 156137664
15 LMNA NM_170707.3(LMNA): c.1868C> G (p.Thr623Ser) single nucleotide variant Pathogenic rs59267781 GRCh37 Chromosome 1, 156108448: 156108448
16 LMNA NM_170707.3(LMNA): c.1868C> G (p.Thr623Ser) single nucleotide variant Pathogenic rs59267781 GRCh38 Chromosome 1, 156138657: 156138657
17 LMNA NM_170707.3(LMNA): c.1968+1G> A single nucleotide variant Pathogenic rs113436208 GRCh37 Chromosome 1, 156108549: 156108549
18 LMNA NM_170707.3(LMNA): c.1968+1G> A single nucleotide variant Pathogenic rs113436208 GRCh38 Chromosome 1, 156138758: 156138758
19 LMNA NM_170707.3(LMNA): c.667G> A (p.Glu223Lys) single nucleotide variant Pathogenic rs797044485 GRCh38 Chromosome 1, 156134832: 156134832
20 LMNA NM_170707.3(LMNA): c.667G> A (p.Glu223Lys) single nucleotide variant Pathogenic rs797044485 GRCh37 Chromosome 1, 156104623: 156104623
21 LMNA NM_170707.3(LMNA): c.1699_1968del270 (p.Gly567_Gln656del) deletion Pathogenic GRCh38 Chromosome 1, 156138488: 156138757
22 LMNA NM_170707.3(LMNA): c.1699_1968del270 (p.Gly567_Gln656del) deletion Pathogenic GRCh37 Chromosome 1, 156108279: 156108548
23 LMNA NM_170707.3(LMNA): c.1771T> A (p.Cys591Ser) single nucleotide variant Pathogenic rs797044486 GRCh38 Chromosome 1, 156138560: 156138560
24 LMNA NM_170707.3(LMNA): c.1771T> A (p.Cys591Ser) single nucleotide variant Pathogenic rs797044486 GRCh37 Chromosome 1, 156108351: 156108351
25 LMNA NM_170707.3(LMNA): c.1968G> A (p.Gln656=) single nucleotide variant Pathogenic rs797044487 GRCh38 Chromosome 1, 156138757: 156138757
26 LMNA NM_170707.3(LMNA): c.1968G> A (p.Gln656=) single nucleotide variant Pathogenic rs797044487 GRCh37 Chromosome 1, 156108548: 156108548
27 LMNA NM_170707.3(LMNA): c.1968+1G> C single nucleotide variant Pathogenic rs113436208 GRCh38 Chromosome 1, 156138758: 156138758
28 LMNA NM_170707.3(LMNA): c.1968+1G> C single nucleotide variant Pathogenic rs113436208 GRCh37 Chromosome 1, 156108549: 156108549
29 LMNA NM_170707.3(LMNA): c.1968+2T> A single nucleotide variant Pathogenic rs113860699 GRCh38 Chromosome 1, 156138759: 156138759
30 LMNA NM_170707.3(LMNA): c.1968+2T> A single nucleotide variant Pathogenic rs113860699 GRCh37 Chromosome 1, 156108550: 156108550
31 LMNA NM_170707.3(LMNA): c.1968+2T> C single nucleotide variant Pathogenic rs113860699 GRCh38 Chromosome 1, 156138759: 156138759
32 LMNA NM_170707.3(LMNA): c.1968+2T> C single nucleotide variant Pathogenic rs113860699 GRCh37 Chromosome 1, 156108550: 156108550
33 LMNA NM_170707.3(LMNA): c.1968+5G> A single nucleotide variant Pathogenic rs797044488 GRCh38 Chromosome 1, 156138762: 156138762
34 LMNA NM_170707.3(LMNA): c.1968+5G> A single nucleotide variant Pathogenic rs797044488 GRCh37 Chromosome 1, 156108553: 156108553
35 LMNA NM_170707.3(LMNA): c.1968+5G> C single nucleotide variant Pathogenic rs797044488 GRCh38 Chromosome 1, 156138762: 156138762
36 LMNA NM_170707.3(LMNA): c.1968+5G> C single nucleotide variant Pathogenic rs797044488 GRCh37 Chromosome 1, 156108553: 156108553
37 LMNA NM_170707.3(LMNA): c.1551G> A (p.Gln517=) single nucleotide variant Conflicting interpretations of pathogenicity rs41314035 GRCh37 Chromosome 1, 156106966: 156106966
38 LMNA NM_170707.3(LMNA): c.1551G> A (p.Gln517=) single nucleotide variant Conflicting interpretations of pathogenicity rs41314035 GRCh38 Chromosome 1, 156137175: 156137175
39 LMNA NM_005572.3(LMNA): c.-138T> C single nucleotide variant Uncertain significance rs886045359 GRCh37 Chromosome 1, 156084572: 156084572
40 LMNA NM_005572.3(LMNA): c.-138T> C single nucleotide variant Uncertain significance rs886045359 GRCh38 Chromosome 1, 156114781: 156114781
41 LMNA NM_005572.3(LMNA): c.-62C> A single nucleotide variant Uncertain significance rs886045361 GRCh37 Chromosome 1, 156084648: 156084648
42 LMNA NM_005572.3(LMNA): c.-62C> A single nucleotide variant Uncertain significance rs886045361 GRCh38 Chromosome 1, 156114857: 156114857
43 LMNA NM_005572.3(LMNA): c.295C> A (p.Arg99Ser) single nucleotide variant Uncertain significance rs886045364 GRCh37 Chromosome 1, 156085004: 156085004
44 LMNA NM_005572.3(LMNA): c.295C> A (p.Arg99Ser) single nucleotide variant Uncertain significance rs886045364 GRCh38 Chromosome 1, 156115213: 156115213
45 LMNA NM_005572.3(LMNA): c.936+12C> T single nucleotide variant Conflicting interpretations of pathogenicity rs199881992 GRCh37 Chromosome 1, 156105115: 156105115
46 LMNA NM_005572.3(LMNA): c.936+12C> T single nucleotide variant Conflicting interpretations of pathogenicity rs199881992 GRCh38 Chromosome 1, 156135324: 156135324
47 LMNA NM_005572.3(LMNA): c.1488G> A (p.Thr496=) single nucleotide variant Benign/Likely benign rs375516745 GRCh37 Chromosome 1, 156106819: 156106819
48 LMNA NM_005572.3(LMNA): c.1488G> A (p.Thr496=) single nucleotide variant Benign/Likely benign rs375516745 GRCh38 Chromosome 1, 156137028: 156137028
49 LMNA NM_005572.3(LMNA): c.-226C> T single nucleotide variant Uncertain significance rs886045354 GRCh37 Chromosome 1, 156084484: 156084484
50 LMNA NM_005572.3(LMNA): c.-226C> T single nucleotide variant Uncertain significance rs886045354 GRCh38 Chromosome 1, 156114693: 156114693

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 lamin filament GO:0005638 8.62 LMNA LMNB1

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

# Name GO ID Score Top Affiliating Genes
1 protein localization to plasma membrane GO:0072659 9.58 ADIPOQ ANK3 ROCK1
2 DNA recombination GO:0006310 9.5 H2AFX PRKDC WRN
3 cellular response to insulin stimulus GO:0032869 9.43 ADIPOQ ENPP1 PRKDC
4 nuclear envelope organization GO:0006998 9.37 LMNA ZMPSTE24
5 negative regulation of protein autophosphorylation GO:0031953 9.16 ADIPOQ ENPP1
6 double-strand break repair GO:0006302 9.13 H2AFX PRKDC WRN
7 extracellular matrix organization GO:0030198 8.92 ACAN ELN LAMA1 TNFRSF11B

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.7 ENPP1 PRKDC RFC1 ROCK1 SPG7 UBA7
2 protein binding GO:0005515 9.62 ACAN ADIPOQ ANK3 CYCS ELN ENPP1
3 extracellular matrix structural constituent GO:0005201 9.13 ACAN ELN LAMA1

Sources for Hutchinson-Gilford Progeria Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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