HGPS
MCID: HTC003
MIFTS: 68

Hutchinson-Gilford Progeria Syndrome (HGPS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Hutchinson-Gilford Progeria Syndrome

MalaCards integrated aliases for Hutchinson-Gilford Progeria Syndrome:

Name: Hutchinson-Gilford Progeria Syndrome 57 11 24 42 58 75 73 38
Progeria 57 11 19 42 58 75 53 43 14 71
Hgps 57 11 19 42 58 73
Hutchinson-Gilford Syndrome 42 28 5
Hutchinson-Gilford Progeria 57 12
Hutchinson Gilford Syndrome 11 19
Hutchinson Gilford Progeria Syndrome 19
Hutchinson-Gilford-Progeria Syndrome 75
Hutchinson-Gilford Disease 11
Progeria of Childhood 42

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58 , Autosomal dominant 57

Prevelance:

<1/1000000 (Worldwide, Worldwide) 58

Age Of Onset:

Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
paternal age effect
premature aging
median age of clinical diagnosis 19 months (in most patients)
median life expectancy 13 years (in most patients)
majority of classic cases have a single de novo mutation (gly608gly, )
some patients have an atypical phenotype with a later age at diagnosis and more protracted disease course
somatic mosaicism and apparent germline mosaicism have been reported


GeneReviews:

24
Penetrance Penetrance is complete.

Classifications:

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


Summaries for Hutchinson-Gilford Progeria Syndrome

OMIM®: 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) (Updated 08-Dec-2022)

MalaCards based summary: Hutchinson-Gilford Progeria Syndrome, also known as progeria, is related to aging and progeroid syndrome. An important gene associated with Hutchinson-Gilford Progeria Syndrome is LMNA (Lamin A/C), and among its related pathways/superpathways are Gene expression (Transcription) and Disease. The drugs Sirolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and heart, and related phenotypes are micrognathia and narrow mouth

MedlinePlus Genetics: 42 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.

GARD: 19 Progeria leads to extreme premature aging and affects many different body systems. The symptoms begin within a year of life with poor growth and weight gain. Children with Progeria have a characteristic facial appearance with a large head, small mouth and chin, narrow nose and large eyes. Other symptoms include baldness, loss of fat under the skin, and dental and joint abnormalities. They also often have symptoms typically seen in much older people including joint stiffness, hip dislocations and severe, progressive heart disease. Intelligence is typically normal. Progeria is caused by a genetic variant in the LMNA gene. This variant usually arises as a new change in the genetic material and is not inherited from a parent. Diagnosis is based on the symptoms, clinical exam, and may be confirmed by the results of genetic testing.

Orphanet: 58 Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

Disease Ontology: 11 A syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has material basis in mutation in LMNA on chromosome 1q22.

UniProtKB/Swiss-Prot: 73 Rare genetic disorder characterized by features reminiscent of marked premature aging.

Wikipedia: 75 Progeria is a specific type of progeroid syndrome, also known as Hutchinson-Gilford syndrome. Progeroid... 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 297)
# Related Disease Score Top Affiliating Genes
1 aging 31.8 WRN TP53 LMNA
2 progeroid syndrome 31.3 WRN ERCC4
3 restrictive dermopathy 31.3 ZMPSTE24 LMNA
4 werner syndrome 31.3 WRN TP53 PRKDC LMNA
5 mandibuloacral dysplasia with type a lipodystrophy 31.1 ZMPSTE24 LMNA
6 muscular dystrophy 31.0 TP53 LMNB1 LMNA HDAC2 EMD
7 skin atrophy 30.9 ZMPSTE24 WRN LMNA
8 emery-dreifuss muscular dystrophy 30.9 ZMPSTE24 LMNB1 LMNA EMD
9 cockayne syndrome 30.8 TP53 RBBP4 HDAC1 ERCC4
10 congenital generalized lipodystrophy 30.4 ZMPSTE24 SREBF1 LMNA
11 xeroderma pigmentosum, variant type 30.3 WRN TP53 PRKDC ERCC4
12 lethal restrictive dermopathy 30.2 ZMPSTE24 LMNA
13 acroosteolysis 30.2 ZMPSTE24 LMNA
14 lipodystrophy, familial partial, type 2 30.2 ZMPSTE24 SREBF1 LMNB1 LMNA EMD
15 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 30.1 ZMPSTE24 LMNA EMD
16 muscular dystrophy, congenital, lmna-related 30.1 ZMPSTE24 NAT10 LMNB1 LMNA EMD
17 emery-dreifuss muscular dystrophy 3, autosomal recessive 30.0 ZMPSTE24 LMNB1 LMNA EMD
18 cardiomyopathy, dilated, 1a 30.0 ZMPSTE24 LMNB1 LMNA EMD
19 trichothiodystrophy 30.0 WRN TP53 PRKDC ERCC4
20 familial partial lipodystrophy 30.0 ZMPSTE24 SREBF1 LMNB1 LMNA EMD
21 xfe progeroid syndrome 29.6 WRN ERCC4
22 nestor-guillermo progeria syndrome 11.7
23 premature aging 11.7
24 marbach-rustad progeroid syndrome 11.4
25 progeroid short stature with pigmented nevi 11.4
26 lmna-related cardiocutaneous progeria syndrome 11.2
27 cutis laxa, autosomal recessive, type iiia 11.0
28 autosomal recessive cutis laxa type iii 11.0
29 clark-baraitser syndrome 10.9
30 alopecia 10.9
31 wiedemann-rautenstrauch syndrome 10.9
32 cockayne syndrome a 10.9
33 mandibuloacral dysplasia with type b lipodystrophy 10.9
34 cockayne syndrome b 10.9
35 cutis laxa, autosomal recessive, type iia 10.9
36 xeroderma pigmentosum, complementation group f 10.9
37 short stature, oligodontia, dysmorphic facies, and motor delay 10.9
38 dyskeratosis congenita 10.9
39 cockayne syndrome type iii 10.9
40 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.8
41 charcot-marie-tooth disease, axonal, type 2e 10.8
42 systemic scleroderma 10.8
43 laminopathy 10.7
44 cerebrovascular disease 10.6
45 atherosclerosis susceptibility 10.6
46 restrictive dermopathy 2 10.6
47 bone disease 10.6
48 vascular disease 10.6
49 arteriosclerosis 10.6
50 aortic valve disease 2 10.5

Graphical network of the top 20 diseases related to Hutchinson-Gilford Progeria Syndrome:



Diseases related to Hutchinson-Gilford Progeria Syndrome

Symptoms & Phenotypes for Hutchinson-Gilford Progeria Syndrome

Human phenotypes related to Hutchinson-Gilford Progeria Syndrome:

58 30 (show top 50) (show all 102)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micrognathia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000347
2 narrow mouth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000160
3 conductive hearing impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000405
4 weight loss 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001824
5 thin vermilion border 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000233
6 premature skin wrinkling 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100678
7 severe failure to thrive 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001525
8 absence of subcutaneous fat 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007485
9 prominent superficial blood vessels 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007394
10 prominent umbilicus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001544
11 pubertal developmental failure in females 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008647
12 high palate 58 30 Frequent (33%) Frequent (79-30%)
HP:0000218
13 retrognathia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000278
14 hip dislocation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002827
15 high pitched voice 58 30 Frequent (33%) Frequent (79-30%)
HP:0001620
16 coxa valga 58 30 Frequent (33%) Frequent (79-30%)
HP:0002673
17 lack of skin elasticity 58 30 Frequent (33%) Frequent (79-30%)
HP:0100679
18 dystrophic toenail 58 30 Frequent (33%) Frequent (79-30%)
HP:0001810
19 atherosclerosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002621
20 dystrophic fingernails 58 30 Frequent (33%) Frequent (79-30%)
HP:0008391
21 relative macrocephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0004482
22 insulin resistance 58 30 Frequent (33%) Frequent (79-30%)
HP:0000855
23 exertional dyspnea 58 30 Frequent (33%) Frequent (79-30%)
HP:0002875
24 alopecia totalis 58 30 Frequent (33%) Frequent (79-30%)
HP:0007418
25 hypoplastic male external genitalia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000050
26 ankyloglossia 58 30 Frequent (33%) Frequent (79-30%)
HP:0010296
27 patchy alopecia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002232
28 short lingual frenulum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000200
29 female hypogonadism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000134
30 shallow orbits 58 30 Frequent (33%) Frequent (79-30%)
HP:0000586
31 decreased serum leptin 58 30 Frequent (33%) Frequent (79-30%)
HP:0003292
32 narrow nasal tip 58 30 Frequent (33%) Frequent (79-30%)
HP:0011832
33 shuffling gait 58 30 Frequent (33%) Frequent (79-30%)
HP:0002362
34 delayed menarche 58 30 Frequent (33%) Frequent (79-30%)
HP:0012569
35 narrow nasal ridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0000418
36 craniofacial disproportion 58 30 Frequent (33%) Frequent (79-30%)
HP:0005461
37 low-frequency sensorineural hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0008573
38 left ventricular diastolic dysfunction 58 30 Frequent (33%) Frequent (79-30%)
HP:0025168
39 hypertension 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000822
40 corneal opacity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007957
41 avascular necrosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010885
42 joint stiffness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001387
43 reduced bone mineral density 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004349
44 myocardial infarction 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001658
45 mitral regurgitation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001653
46 transient ischemic attack 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002326
47 dental crowding 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000678
48 mitral valve calcification 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004382
49 delayed eruption of teeth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000684
50 hypodontia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000668

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive

Growth Height:
short stature

Skeletal Limbs:
genu valgum
flexion contractures

Skin Nails Hair Hair:
alopecia
sparse eyelashes
sparse eyebrows

Muscle Soft Tissue:
lipodystrophy
muscular atrophy

Neurologic Central Nervous System:
stroke
transient ischemic attacks (tias)

Skeletal Pelvis:
coxa valga

Head And Neck Eyes:
sparse eyelashes
nocturnal lagophthalmos
sparse eyebrows
prominent eyes
farsightedness
more
Head And Neck Mouth:
ankyloglossia
circumoral cyanosis
ogival palate

Head And Neck Head:
prominent scalp veins
delayed closure of fontanel

Head And Neck Ears:
conductive hearing loss

Skin Nails Hair Nails:
short nails
dystrophic nails

Skin Nails Hair Skin:
skin hyperpigmentation
sclerodermatous skin changes
skin dimpling
skin mottling
prominent cutaneous vasculature
more
Skeletal Spine:
ovoid vertebrae

Skeletal:
osteopenia
osteoporosis

Laboratory Abnormalities:
aminoaciduria
elevated serum phosphorus

Head And Neck Face:
retrognathia
micrognathia
craniofacial disproportion

Cardiovascular Heart:
myocardial infarction
angina

Head And Neck Teeth:
dental crowding
hypodontia
delayed tooth eruption

Head And Neck Nose:
narrow nasal bridge
broad nasal tip

Hematology:
prolonged prothrombin time
elevated platelet count

Metabolic Features:
insulin resistance

Skeletal Skull:
thin calvarium
hypoplastic mandible
delayed closure of anterior and posterior fontanel
widened sutures
bitemporal bossing

Cardiovascular Vascular:
elevated systolic blood pressure
elevated diastolic blood pressure
premature atherosclerosis

Growth Weight:
normal birth weight

Skeletal Feet:
calcaneovalgus
acroosteolysis of distal phalanges

Chest Ribs Sternum Clavicles And Scapulae:
lateral clavicle resorption

Skeletal Hands:
distal phalangeal tufting
phalangeal contractures
acroosteolysis of distal phalanges

Clinical features from OMIM®:

176670 (Updated 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in pancreas lineage GR00235-A 8.62 SREBF1 TP53

MGI Mouse Phenotypes related to Hutchinson-Gilford Progeria Syndrome:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.32 ERCC4 HDAC1 HDAC2 LEF1 LMNA LMNB1
2 cellular MP:0005384 10.18 EMD ERCC4 HDAC1 HDAC2 LEF1 LMNA
3 endocrine/exocrine gland MP:0005379 10.16 CBX3 HDAC1 HDAC2 LEF1 LMNA PRKDC
4 immune system MP:0005387 10.15 CBX3 CBX5 HDAC1 HDAC2 LEF1 LMNA
5 muscle MP:0005369 10.13 EMD HDAC1 HDAC2 LMNA LMNB1 PRKDC
6 liver/biliary system MP:0005370 10.11 ERCC4 HDAC1 LMNA PRKDC RBBP4 SREBF1
7 skeleton MP:0005390 10.1 CBX5 HDAC2 LEF1 LMNA LMNB1 NAT10
8 craniofacial MP:0005382 10.09 HDAC1 LEF1 LMNA LMNB1 PRKDC RBBP7
9 limbs/digits/tail MP:0005371 10.04 HDAC1 HDAC2 LEF1 LMNA TP53 WRN
10 pigmentation MP:0001186 10.01 HDAC1 HDAC2 LEF1 LMNA PRKDC TP53
11 vision/eye MP:0005391 9.96 ERCC4 HDAC1 HDAC2 LEF1 LMNA NAT10
12 hematopoietic system MP:0005397 9.93 CBX5 HDAC1 HDAC2 LEF1 LMNA LMNB1
13 mortality/aging MP:0010768 9.91 CBX1 CBX3 CBX5 ERCC4 HDAC1 HDAC2
14 integument MP:0010771 9.28 HDAC1 HDAC2 LEF1 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 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030
2
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
3
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
4
Pravastatin Approved Phase 2 81093-37-0 54687
5
Zoledronic acid Approved Phase 2 118072-93-8 68740
6
Lonafarnib Approved, Investigational Phase 1, Phase 2 193275-84-2 148195
7
Everolimus Approved Phase 1, Phase 2 159351-69-6 70789204 6442177
8 Anti-Bacterial Agents Phase 1, Phase 2
9 Anti-Infective Agents Phase 1, Phase 2
10 Antifungal Agents Phase 1, Phase 2
11 Antibiotics, Antitubercular Phase 1, Phase 2
12 Pharmaceutical Solutions Phase 2
13 Antimetabolites Phase 2
14 Hypolipidemic Agents Phase 2
15 Anticholesteremic Agents Phase 2
16 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
17 Lipid Regulating Agents Phase 2
18 Immunosuppressive Agents Phase 1, Phase 2
19 Immunologic Factors Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Umbilical Cord Blood Transfusion in Patients With Hutchinson-Gilford Progeria Syndrome Completed NCT03871972 Phase 1, Phase 2 Umbilical Cord Blood Unit
2 Treatment of the Hutchinson-Gilford Progeria Syndrome With a Combination of Pravastatin and Zoledronic Acid Completed NCT00731016 Phase 2 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 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
5 An Open Label Phase II Trial of Zoledronic Acid, Pravastatin, and Lonafarnib for Patients With Hutchinson-Gilford Progeria Syndrome(HGPS) and Progeroid Laminopathies Active, not recruiting NCT00916747 Phase 2 Lonafarnib, Zoledronic Acid, and Pravastatin
6 Phase I/II Trial of Everolimus in Combination With Lonafarnib in Progeria Enrolling by invitation NCT02579044 Phase 1, Phase 2 Everolimus and lonafarnib
7 A Phase I, Randomized, Double-Blind, Placebo-Controlled, Single Ascending Dose (SAD) Study Including a Food Interaction Study, Followed by a Multiple Ascending Dose (MAD) Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamic Profile of Progerinin in Healthy Volunteers Completed NCT04512963 Phase 1 Progerinin;Placebo
8 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 Approved for marketing NCT03895528 Lonafarnib
9 Clinical Investigations Into Hutchison-Gilford Progeria Syndrome Completed NCT00094393

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 28 LMNA

Anatomical Context for Hutchinson-Gilford Progeria Syndrome

Organs/tissues related to Hutchinson-Gilford Progeria Syndrome:

MalaCards : Skin, Bone, Heart, Smooth Muscle, Liver, Endothelial, Skeletal Muscle
ODiseA: Skin

Publications for Hutchinson-Gilford Progeria Syndrome

Articles related to Hutchinson-Gilford Progeria Syndrome:

(show top 50) (show all 1809)
# Title Authors PMID Year
1
Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes. 53 62 24 57 5
17469202 2007
2
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). 53 62 24 57 5
12768443 2003
3
Truncated prelamin A expression in HGPS-like patients: a transcriptional study. 62 24 57 5
25649378 2015
4
Somatic and gonadal mosaicism in Hutchinson-Gilford progeria. 62 24 57 5
15793835 2005
5
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. 62 24 57 5
12714972 2003
6
Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition. 53 62 57 5
16126733 2005
7
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. 24 57 5
15317753 2004
8
Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. 62 57 5
15184648 2004
9
A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome. 62 24 57
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. 62 24 57
22065502 2011
11
Hutchinson-Gilford progeria syndrome: review of the phenotype. 62 24 57
16838330 2006
12
Lamin a truncation in Hutchinson-Gilford progeria. 62 24 57
12702809 2003
13
Increased expression of the Hutchinson-Gilford progeria syndrome truncated lamin A transcript during cell aging. 53 62 5
19172989 2009
14
Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation. 53 62 57
19283854 2009
15
Reversible phenotype in a mouse model of Hutchinson-Gilford progeria syndrome. 53 62 57
18708427 2008
16
Hutchinson-Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature. 53 62 5
17459035 2007
17
Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation. 53 62 57
16825282 2006
18
Distinct structural and mechanical properties of the nuclear lamina in Hutchinson-Gilford progeria syndrome. 53 62 57
16801550 2006
19
Inhibiting farnesylation reverses the nuclear morphology defect in a HeLa cell model for Hutchinson-Gilford progeria syndrome. 53 62 57
16186497 2005
20
Paternal origin of LMNA mutations in Hutchinson-Gilford progeria. 53 62 5
15032975 2004
21
Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation. 62 5
27334370 2016
22
Systematic identification of pathological lamin A interactors. 62 5
24623722 2014
23
Chemical inhibition of NAT10 corrects defects of laminopathic cells. 62 57
24786082 2014
24
LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset. 62 57
23666920 2013
25
Correlated alterations in genome organization, histone methylation, and DNA-lamin A/C interactions in Hutchinson-Gilford progeria syndrome. 62 57
23152449 2013
26
Clinical imaging findings in a girl with Hutchinson-Gilford progeria syndrome. 62 5
22611635 2012
27
A conserved splicing mechanism of the LMNA gene controls premature aging. 62 5
21875900 2011
28
Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells. 62 57
21715679 2011
29
Recapitulation of premature ageing with iPSCs from Hutchinson-Gilford progeria syndrome. 62 57
21346760 2011
30
Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging. 62 57
18587406 2008
31
Phenotype and course of Hutchinson-Gilford progeria syndrome. 62 57
18256394 2008
32
A farnesyltransferase inhibitor improves disease phenotypes in mice with a Hutchinson-Gilford progeria syndrome mutation. 62 57
16862216 2006
33
Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging. 62 5
16738054 2006
34
A protein farnesyltransferase inhibitor ameliorates disease in a mouse model of progeria. 62 57
16484451 2006
35
Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson-Gilford progeria syndrome. 62 57
16492728 2006
36
Ankyrin G overexpression in Hutchinson-Gilford progeria syndrome fibroblasts identified through biological filtering of expression profiles. 62 57
17033732 2006
37
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. 53 62 24
15622532 2005
38
Lamin A expression levels are unperturbed at the normal and mutant alleles but display partial splice site selection in Hutchinson-Gilford progeria syndrome. 62 5
15342704 2004
39
Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome. 62 57
15286156 2004
40
Drawing the line in progeria syndromes. 62 57
12927424 2003
41
PRELP, collagen, and a theory of Hutchinson-Gilford progeria. 62 57
12437997 2003
42
Del(1)(q23) in a patient with Hutchinson-Gilford progeria. 62 57
12439901 2002
43
Severe bone changes in a case of Hutchinson-Gilford syndrome. 62 57
12381448 2002
44
Hutchinson-Gilford progeria: familial occurrence. 62 57
2389799 1990
45
Hutchinson-Gilford progeria syndrome: report of a Libyan family and evidence of autosomal recessive inheritance. 62 57
2721021 1989
46
Evidence for autosomal recessive inheritance of progeria (Hutchinson Gilford). 62 57
3228132 1988
47
Management of coronary artery disease in Hutchinson-Gilford syndrome. 62 57
2957478 1987
48
[Neonatal Hutchinson-Gilford progeria with cutaneous sclerodermiform involvement]. 62 57
3579140 1987
49
Hutchinson-Gilford progeria syndrome in a 45-year-old man. 62 57
3728539 1986
50
Decreased sensitivity of old and progeric human fibroblasts to a preparation of factors with insulinlike activity. 62 57
7026617 1981

Variations for Hutchinson-Gilford Progeria Syndrome

ClinVar genetic disease variations for Hutchinson-Gilford Progeria Syndrome:

5 (show top 50) (show all 96)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LMNA NM_170707.4(LMNA):c.1821G>A (p.Val607=) SNV Pathogenic
14516 rs59886214 GRCh37: 1:156108401-156108401
GRCh38: 1:156138610-156138610
2 LMNA NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) SNV Pathogenic
14498 rs59885338 GRCh37: 1:156105059-156105059
GRCh38: 1:156135268-156135268
3 LMNA NM_170707.4(LMNA):c.1824C>T (p.Gly608=) SNV Pathogenic
Pathogenic
14500 rs58596362 GRCh37: 1:156108404-156108404
GRCh38: 1:156138613-156138613
4 LMNA NM_170707.4(LMNA):c.1822G>A (p.Gly608Ser) SNV Pathogenic
14501 rs61064130 GRCh37: 1:156108402-156108402
GRCh38: 1:156138611-156138611
5 LMNA NM_170707.4(LMNA):c.1968+1G>A SNV Pathogenic
66879 rs113436208 GRCh37: 1:156108549-156108549
GRCh38: 1:156138758-156138758
6 LMNA NM_170707.4(LMNA):c.1619T>C (p.Met540Thr) SNV Pathogenic
66858 rs267607547 GRCh37: 1:156107455-156107455
GRCh38: 1:156137664-156137664
7 LMNA NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) SNV Pathogenic
36473 rs386134243 GRCh37: 1:156105758-156105758
GRCh38: 1:156135967-156135967
8 LMNA NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) SNV Pathogenic
14486 rs11575937 GRCh37: 1:156106776-156106776
GRCh38: 1:156136985-156136985
9 ERCC4 NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) SNV Likely Pathogenic
16580 rs121913049 GRCh37: 16:14041848-14041848
GRCh38: 16:13947991-13947991
10 ERCC4 NM_005236.3(ERCC4):c.388+1164_792+795del DEL Likely Pathogenic
625138 GRCh37: 16:14017229-14022884
GRCh38: 16:13923372-13929027
11 LMNA NM_170707.4(LMNA):c.164A>G (p.Glu55Gly) SNV Likely Pathogenic
1308669 GRCh37: 1:156084873-156084873
GRCh38: 1:156115082-156115082
12 LMNA NM_170707.4(LMNA):c.1622G>A (p.Arg541His) SNV Likely Pathogenic
66860 rs61444459 GRCh37: 1:156107458-156107458
GRCh38: 1:156137667-156137667
13 LMNA NM_170707.4(LMNA):c.784G>A (p.Glu262Lys) SNV Likely Pathogenic
1698456 GRCh37: 1:156104740-156104740
GRCh38: 1:156134949-156134949
14 LMNA NM_170707.4(LMNA):c.1391T>A (p.Met464Lys) SNV Likely Pathogenic
561054 rs1281896947 GRCh37: 1:156106722-156106722
GRCh38: 1:156136931-156136931
15 LMNA NM_170707.4(LMNA):c.168C>G (p.Asn56Lys) SNV Likely Pathogenic
1341358 GRCh37: 1:156084877-156084877
GRCh38: 1:156115086-156115086
16 LMNA NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys) SNV Likely Pathogenic
66849 rs57629361 GRCh37: 1:156106998-156106998
GRCh38: 1:156137207-156137207
17 LMNA NM_170707.4(LMNA):c.936+2T>C SNV Likely Pathogenic
208496 rs797045011 GRCh37: 1:156105105-156105105
GRCh38: 1:156135314-156135314
18 LMNA NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) SNV Uncertain Significance
Uncertain Significance
245964 rs200466188 GRCh37: 1:156106818-156106818
GRCh38: 1:156137027-156137027
19 LMNA NM_170707.4(LMNA):c.1634G>A (p.Arg545His) SNV Uncertain Significance
163878 rs142191737 GRCh37: 1:156107470-156107470
GRCh38: 1:156137679-156137679
20 LMNA NM_170707.4(LMNA):c.1517A>C (p.His506Pro) SNV Uncertain Significance
242003 rs878855233 GRCh37: 1:156106932-156106932
GRCh38: 1:156137141-156137141
21 LMNA NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu) SNV Uncertain Significance
876083 rs505058 GRCh37: 1:156106185-156106185
GRCh38: 1:156136394-156136394
22 LMNA NM_170707.4(LMNA):c.-44T>A SNV Uncertain Significance
873801 rs1185731069 GRCh37: 1:156084666-156084666
GRCh38: 1:156114875-156114875
23 LMNA NM_170707.4(LMNA):c.1698+83G>A SNV Uncertain Significance
875382 rs555844506 GRCh37: 1:156107617-156107617
GRCh38: 1:156137826-156137826
24 LMNA NM_170707.4(LMNA):c.749C>T (p.Ala250Val) SNV Uncertain Significance
48078 rs397517907 GRCh37: 1:156104705-156104705
GRCh38: 1:156134914-156134914
25 LMNA NM_170707.4(LMNA):c.356+12C>A SNV Uncertain Significance
875747 rs1649747809 GRCh37: 1:156085077-156085077
GRCh38: 1:156115286-156115286
26 LMNA NM_170707.4(LMNA):c.985C>G (p.Arg329Gly) SNV Uncertain Significance
224680 rs775159300 GRCh37: 1:156105740-156105740
GRCh38: 1:156135949-156135949
27 LMNA NM_170707.4(LMNA):c.937-3C>A SNV Uncertain Significance
976132 rs756694090 GRCh37: 1:156105689-156105689
GRCh38: 1:156135898-156135898
28 LMNA NM_170707.4(LMNA):c.187A>C (p.Ile63Leu) SNV Uncertain Significance
1029259 rs899373360 GRCh37: 1:156084896-156084896
GRCh38: 1:156115105-156115105
29 LMNA NM_170707.4(LMNA):c.1698+124C>T SNV Uncertain Significance
368833 rs1057516022 GRCh37: 1:156107658-156107658
GRCh38: 1:156137867-156137867
30 LMNA NM_170707.4(LMNA):c.936+12C>T SNV Uncertain Significance
292837 rs199881992 GRCh37: 1:156105115-156105115
GRCh38: 1:156135324-156135324
31 LMNA NM_170707.4(LMNA):c.-62C>A SNV Uncertain Significance
292832 rs886045361 GRCh37: 1:156084648-156084648
GRCh38: 1:156114857-156114857
32 LMNA NM_170707.4(LMNA):c.-5C>A SNV Uncertain Significance
292833 rs886045362 GRCh37: 1:156084705-156084705
GRCh38: 1:156114914-156114914
33 LMNA NM_170707.4(LMNA):c.-142C>A SNV Uncertain Significance
292827 rs886045358 GRCh37: 1:156084568-156084568
GRCh38: 1:156114777-156114777
34 LMNA NM_170707.4(LMNA):c.-109G>T SNV Uncertain Significance
292830 rs886045360 GRCh37: 1:156084601-156084601
GRCh38: 1:156114810-156114810
35 LMNA NM_170707.4(LMNA):c.985C>A (p.Arg329Ser) SNV Uncertain Significance
292838 rs775159300 GRCh37: 1:156105740-156105740
GRCh38: 1:156135949-156135949
36 LMNA NM_170707.4(LMNA):c.-183C>A SNV Uncertain Significance
292826 rs886045357 GRCh37: 1:156084527-156084527
GRCh38: 1:156114736-156114736
37 ERCC4 NM_005236.3(ERCC4):c.1488A>T (p.Gln496His) SNV Uncertain Significance
134150 rs146601373 GRCh37: 16:14029277-14029277
GRCh38: 16:13935420-13935420
38 ERCC4 NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp) SNV Uncertain Significance
134138 rs4986933 GRCh37: 16:14042032-14042032
GRCh38: 16:13948175-13948175
39 LMNA NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) SNV Uncertain Significance
66802 rs150840924 GRCh37: 1:156106150-156106150
GRCh38: 1:156136359-156136359
40 LMNA NM_005572.3(LMNA):c.-225C>A SNV Uncertain Significance
292824 rs886045355 GRCh37: 1:156084485-156084485
GRCh38: 1:156114694-156114694
41 LMNA NM_170707.4(LMNA):c.295C>A (p.Arg99Ser) SNV Uncertain Significance
292835 rs886045364 GRCh37: 1:156085004-156085004
GRCh38: 1:156115213-156115213
42 LMNA NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) SNV Uncertain Significance
66797 rs267607606 GRCh37: 1:156106090-156106090
GRCh38: 1:156136299-156136299
43 LMNA NM_170707.4(LMNA):c.1381-5G>A SNV Uncertain Significance
180405 rs730880133 GRCh37: 1:156106707-156106707
GRCh38: 1:156136916-156136916
44 LMNA NM_170707.4(LMNA):c.1756G>A (p.Val586Met) SNV Uncertain Significance
487635 rs758048062 GRCh37: 1:156108336-156108336
GRCh38: 1:156138545-156138545
45 LMNA NM_170707.4(LMNA):c.796A>G (p.Thr266Ala) SNV Uncertain Significance
874034 rs1651418246 GRCh37: 1:156104752-156104752
GRCh38: 1:156134961-156134961
46 LMNA NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) SNV Uncertain Significance
656550 rs749784223 GRCh37: 1:156105782-156105782
GRCh38: 1:156135991-156135991
47 LMNA NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) SNV Uncertain Significance
200934 rs60864230 GRCh37: 1:156100449-156100449
GRCh38: 1:156130658-156130658
48 LMNA NM_170707.4(LMNA):c.937-8C>A SNV Uncertain Significance
222694 rs751707982 GRCh37: 1:156105684-156105684
GRCh38: 1:156135893-156135893
49 LMNA NM_170707.4(LMNA):c.953C>T (p.Ala318Val) SNV Uncertain Significance
586129 rs1212920276 GRCh37: 1:156105708-156105708
GRCh38: 1:156135917-156135917
50 LMNA NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) SNV Uncertain Significance
14490 rs11575937 GRCh37: 1:156106776-156106776
GRCh38: 1:156136985-156136985

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

73
# Symbol AA change Variation ID SNP ID
1 LMNA p.Leu140Arg VAR_017658 rs60652225
2 LMNA p.Glu145Lys VAR_017659 rs60310264
3 LMNA p.Arg471Cys VAR_017662 rs28928902
4 LMNA p.Arg527Cys VAR_017663 rs57318642
5 LMNA p.Gly608Ser VAR_017664 rs61064130
6 LMNA p.Ser143Phe VAR_034707 rs58912633
7 LMNA p.Lys542Asn VAR_034710 rs56673169
8 LMNA p.Glu138Lys VAR_070175 rs267607649
9 LMNA p.Asp300Gly VAR_070178 rs79907212

Expression for Hutchinson-Gilford Progeria Syndrome

Search GEO for disease gene expression data for Hutchinson-Gilford Progeria Syndrome.

Pathways for Hutchinson-Gilford Progeria Syndrome

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

(show all 41)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14 WRN TP53 SUV39H1 SREBF1 RBBP7 RBBP4
2
Show member pathways
13.75 WRN TP53 RBBP7 RBBP4 MTA3 LMNB1
3
Show member pathways
13.72 TP53 SUV39H1 RBBP7 RBBP4 MTA3 LMNB1
4 13.71 TP53 SREBF1 RBBP7 RBBP4 MTA3 LMNB1
5
Show member pathways
13.48 WRN TP53 RBBP7 RBBP4 LMNB1 LMNA
6
Show member pathways
13.42 WRN TP53 LMNB1 LMNA HDAC2 HDAC1
7
Show member pathways
13.03 HDAC1 HDAC2 MTA3 RBBP4 RBBP7 TP53
8
Show member pathways
12.94 SUV39H1 RBBP7 RBBP4 MTA3 HDAC2 HDAC1
9
Show member pathways
12.9 HDAC1 HDAC2 RBBP4 RBBP7 TP53 WRN
10
Show member pathways
12.73 PRKDC LMNB1 LMNA LEF1 EMD
11
Show member pathways
12.57 TP53 SREBF1 PRKDC LMNB1 LMNA ERCC4
12 12.46 ERCC4 LMNA PRKDC TP53 WRN
13
Show member pathways
12.3 SREBF1 PRKDC LMNB1 LMNA
14
Show member pathways
12.21 TP53 PRKDC HDAC2 HDAC1
15
Show member pathways
12.21 HDAC1 HDAC2 MTA3 RBBP4 RBBP7
16
Show member pathways
12.16 HDAC1 HDAC2 PRKDC TP53
17 12.02 SUV39H1 RBBP7 RBBP4 HDAC2 HDAC1 EMD
18
Show member pathways
11.96 RBBP7 RBBP4 HDAC2 HDAC1
19 11.87 RBBP7 RBBP4 MTA3 HDAC2 HDAC1
20
Show member pathways
11.8 HDAC1 HDAC2 MTA3 RBBP4 RBBP7
21
Show member pathways
11.78 TP53 HDAC2 HDAC1
22 11.76 WRN TP53 PRKDC
23 11.75 RBBP7 RBBP4 HDAC2 HDAC1
24 11.74 TP53 HDAC2 HDAC1
25
Show member pathways
11.7 ZMPSTE24 SREBF1 LMNA LEF1 HDAC1 EMD
26
Show member pathways
11.68 TP53 LMNB1 LMNA
27 11.67 TP53 RBBP7 RBBP4 HDAC2 HDAC1
28 11.66 RBBP4 HDAC1 CBX5
29 11.6 WRN RBBP7 RBBP4 HDAC2 HDAC1
30 11.58 SUV39H1 RBBP4 HDAC1
31 11.57 HDAC1 PRKDC RBBP4 RBBP7 SUV39H1 TP53
32
Show member pathways
11.54 PRKDC LMNB1 LMNA
33
Show member pathways
11.54 RBBP7 RBBP4 HDAC2 HDAC1
34 11.39 RBBP7 RBBP4 HDAC2 HDAC1
35
Show member pathways
11.35 TP53 RBBP7 RBBP4 HDAC2 HDAC1
36 11.34 RBBP7 RBBP4 CBX5 CBX3
37 11.15 ZMPSTE24 SREBF1 LMNB1 LMNA
38
Show member pathways
11.05 ZMPSTE24 WRN LMNB1 LMNA
39 10.97 TP53 SUV39H1 SREBF1 RBBP7 RBBP4 MTA3
40 10.89 RBBP7 RBBP4
41 10.68 LMNB1 LMNA

GO Terms for Hutchinson-Gilford Progeria Syndrome

Cellular components related to Hutchinson-Gilford Progeria Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.7 CBX1 CBX3 CBX5 EMD ERCC4 HDAC1
2 nucleoplasm GO:0005654 10.43 CBX1 CBX3 CBX5 EMD ERCC4 HDAC1
3 protein-containing complex GO:0032991 10.41 ZMPSTE24 TP53 SREBF1 RBBP4 PRKDC HDAC2
4 nuclear envelope GO:0005635 10.13 ZMPSTE24 SREBF1 LMNB1 LMNA EMD CBX5
5 nuclear inner membrane GO:0005637 10.1 CBX3 EMD LMNB1 ZMPSTE24
6 chromosome, centromeric region GO:0000775 10.08 CBX1 CBX3 CBX5 SUV39H1
7 heterochromatin GO:0000792 10.07 SUV39H1 HDAC1 CBX5 CBX3 CBX1
8 transcription repressor complex GO:0017053 10.05 TP53 HDAC1 CBX5
9 site of DNA damage GO:0090734 10.02 CBX5 CBX3 CBX1
10 Sin3 complex GO:0016580 10.01 HDAC1 HDAC2 RBBP4 RBBP7
11 pericentric heterochromatin GO:0005721 10 CBX5 CBX3 CBX1
12 histone deacetylase complex GO:0000118 9.96 CBX5 HDAC1 HDAC2 RBBP4 RBBP7
13 ESC/E(Z) complex GO:0035098 9.95 RBBP7 RBBP4 HDAC2
14 nuclear lamina GO:0005652 9.93 SUV39H1 LMNB1 LMNA
15 NURF complex GO:0016589 9.87 RBBP7 RBBP4
16 lamin filament GO:0005638 9.86 LMNB1 LMNA
17 NuRD complex GO:0016581 9.65 HDAC1 HDAC2 MTA3 RBBP4 RBBP7
18 chromosome, telomeric region GO:0000781 9.62 WRN RBBP7 RBBP4 PRKDC NAT10 HDAC2

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of DNA-templated transcription GO:0045893 10.41 HDAC1 HDAC2 LEF1 MTA3 RBBP4 RBBP7
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.4 CBX1 CBX3 CBX5 HDAC1 HDAC2 LEF1
3 cellular response to DNA damage stimulus GO:0006974 10.27 ZMPSTE24 WRN TP53 SUV39H1 PRKDC ERCC4
4 chromatin remodeling GO:0006338 10.26 CBX3 HDAC1 HDAC2 MTA3 RBBP4 RBBP7
5 negative regulation of cell migration GO:0030336 10.25 RBBP7 RBBP4 HDAC2 HDAC1
6 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 10.19 TP53 RBBP7 RBBP4 HDAC2 HDAC1
7 negative regulation of DNA-templated transcription GO:0045892 10.18 CBX1 CBX3 CBX5 HDAC1 HDAC2 LEF1
8 odontogenesis of dentin-containing tooth GO:0042475 10.13 LEF1 HDAC2 HDAC1
9 histone deacetylation GO:0016575 10.13 RBBP7 RBBP4 MTA3 HDAC2 HDAC1
10 telomere maintenance GO:0000723 10.12 WRN PRKDC ERCC4
11 cellular senescence GO:0090398 10.12 WRN TP53 LMNA
12 positive regulation of stem cell population maintenance GO:1902459 10.11 RBBP7 RBBP4 HDAC2 HDAC1
13 somitogenesis GO:0001756 10.09 TP53 PRKDC LEF1
14 negative regulation of stem cell population maintenance GO:1902455 10.06 RBBP7 RBBP4 HDAC2 HDAC1
15 rhythmic process GO:0048511 10.06 CBX3 HDAC1 HDAC2 PRKDC SUV39H1 TP53
16 heterochromatin formation GO:0031507 10.05 LMNB1 LMNA CBX3
17 cellular response to gamma radiation GO:0071480 10.04 ZMPSTE24 WRN TP53
18 nuclear envelope organization GO:0006998 10.02 ZMPSTE24 LMNB1 LMNA
19 positive regulation of histone deacetylation GO:0031065 10 TP53 SUV39H1 SREBF1
20 epidermal cell differentiation GO:0009913 9.96 HDAC2 HDAC1
21 regulation of stem cell differentiation GO:2000736 9.96 RBBP7 RBBP4 MTA3 HDAC2 HDAC1
22 histone H4 deacetylation GO:0070933 9.94 HDAC1 HDAC2
23 protein localization to nuclear envelope GO:0090435 9.93 LMNA LMNB1
24 negative regulation of miRNA maturation GO:1903799 9.93 TP53 ZMPSTE24
25 regulation of DNA damage response, signal transduction by p53 class mediator GO:0043516 9.92 ZMPSTE24 TP53
26 T cell lineage commitment GO:0002360 9.91 TP53 PRKDC
27 T cell receptor V(D)J recombination GO:0033153 9.91 PRKDC LEF1
28 B cell lineage commitment GO:0002326 9.9 TP53 PRKDC
29 hair follicle placode formation GO:0060789 9.89 HDAC2 HDAC1
30 nuclear pore localization GO:0051664 9.88 LMNA LMNB1
31 fungiform papilla formation GO:0061198 9.86 HDAC2 HDAC1
32 chromatin organization GO:0006325 9.83 ZMPSTE24 SUV39H1 RBBP7 RBBP4 HDAC2 HDAC1
33 regulation of cell fate specification GO:0042659 9.32 RBBP7 RBBP4 MTA3 HDAC2 HDAC1

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

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 10.1 TP53 PRKDC HDAC2 HDAC1 CBX3 CBX1
2 protein N-terminus binding GO:0047485 9.97 TP53 SUV39H1 HDAC1 ERCC4
3 nucleosomal DNA binding GO:0031492 9.91 RBBP4 HDAC2 HDAC1
4 histone deacetylase binding GO:0042826 9.8 TP53 RBBP4 MTA3 LEF1 HDAC2 HDAC1
5 TFIID-class transcription factor complex binding GO:0001094 9.76 TP53 ERCC4
6 promoter-specific chromatin binding GO:1990841 9.76 ERCC4 HDAC1 HDAC2 TP53
7 histone decrotonylase activity GO:0160009 9.71 HDAC2 HDAC1
8 chromatin binding GO:0003682 9.64 WRN TP53 SUV39H1 SREBF1 MTA3 LEF1
9 protein decrotonylase activity GO:0160008 9.26 HDAC2 HDAC1

Sources for Hutchinson-Gilford Progeria Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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