MCID: HTC002
MIFTS: 63

Hutchinson-Gilford Progeria

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

Aliases & Classifications for Hutchinson-Gilford Progeria

MalaCards integrated aliases for Hutchinson-Gilford Progeria:

Name: Hutchinson-Gilford Progeria 54 13
Progeria 12 72 50 25 56 52 42 14 69
Hutchinson-Gilford Progeria Syndrome 12 23 24 25 56 71
Hgps 12 50 24 25 56 71
Hutchinson Gilford Syndrome 12 50 24
Hutchinson-Gilford Syndrome 25 29
Hutchinson–gilford Progeria Syndrome 72
Hutchinson Gilford Progeria Syndrome 50
Hutchinson Gilford Progeria 24
Hutchinson-Gilford Disease 12
Progeria of Childhood 25

Characteristics:

Orphanet epidemiological data:

56
hutchinson-gilford progeria syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant
autosomal recessive

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:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Penetrance is complete...

Classifications:



Summaries for Hutchinson-Gilford Progeria

OMIM : 54
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, also known as progeria, is related to nestor-guillermo progeria syndrome and progeria-associated arthropathy, and has symptoms including short stature, failure to thrive and hypertriglyceridemia. An important gene associated with Hutchinson-Gilford Progeria is LMNA (Lamin A/C), and among its related pathways/superpathways are Mitotic Prophase and Cytoskeletal Signaling. The drugs Pravastatin and Zoledronic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cellular

NIH Rare Diseases : 50 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. last updated: 10/28/2015

UniProtKB/Swiss-Prot : 71 Hutchinson-Gilford progeria syndrome: Rare genetic disorder characterized by features reminiscent of marked premature aging.

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.

Wikipedia : 72 Progeria is an extremely rare genetic disorder in which symptoms resembling aspects of aging are... more...

GeneReviews: NBK1121

Related Diseases for Hutchinson-Gilford Progeria

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



Diseases related to Hutchinson-Gilford Progeria

Symptoms & Phenotypes for Hutchinson-Gilford Progeria

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Face:
micrognathia
midface hypoplasia

Growth- Other:
postnatal onset growth retardation

Skin Nails & Hair- Skin:
absence of subcutaneous fat

Skin Nails & Hair- Hair:
alopecia

Skeletal:
generalized osteoporosis with pathologic fractures


Clinical features from OMIM:

176670

Human phenotypes related to Hutchinson-Gilford Progeria:

56 32 (show top 50) (show all 102)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 failure to thrive 56 32 hallmark (90%) Very frequent (99-80%) HP:0001508
3 hypertriglyceridemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002155
4 micrognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000347
5 prominent forehead 56 32 hallmark (90%) Very frequent (99-80%) HP:0011220
6 proptosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000520
7 thin ribs 56 32 frequent (33%) Frequent (79-30%) HP:0000883
8 kyphosis 56 32 frequent (33%) Frequent (79-30%) HP:0002808
9 alopecia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001596
10 bird-like facies 56 32 hallmark (90%) Very frequent (99-80%) HP:0000320
11 sparse hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0008070
12 hyperinsulinemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000842
13 hip dislocation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002827
14 osteoporosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000939
15 aminoaciduria 56 32 frequent (33%) Frequent (79-30%) HP:0003355
16 thin skin 56 32 frequent (33%) Frequent (79-30%) HP:0000963
17 left ventricular hypertrophy 56 32 very rare (1%) Very rare (<4-1%) HP:0001712
18 infertility 56 32 hallmark (90%) Very frequent (99-80%) HP:0000789
19 thin vermilion border 56 32 frequent (33%) Frequent (79-30%) HP:0000233
20 delayed puberty 56 32 very rare (1%) Very rare (<4-1%) HP:0000823
21 osteopenia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000938
22 hypertension 56 32 frequent (33%) Frequent (79-30%) HP:0000822
23 absent eyelashes 56 32 frequent (33%) Frequent (79-30%) HP:0000561
24 hypodontia 56 32 frequent (33%) Frequent (79-30%) HP:0000668
25 hepatic steatosis 56 32 frequent (33%) Frequent (79-30%) HP:0001397
26 joint stiffness 56 32 hallmark (90%) Very frequent (99-80%) HP:0001387
27 osteoarthritis 56 32 frequent (33%) Frequent (79-30%) HP:0002758
28 hypermetropia 56 32 frequent (33%) Frequent (79-30%) HP:0000540
29 broad-based gait 56 32 frequent (33%) Frequent (79-30%) HP:0002136
30 hyperphosphatemia 56 32 frequent (33%) Frequent (79-30%) HP:0002905
31 hypoplastic nipples 56 32 frequent (33%) Frequent (79-30%) HP:0002557
32 nasal speech 56 32 hallmark (90%) Very frequent (99-80%) HP:0001611
33 prominent scalp veins 56 32 hallmark (90%) Very frequent (99-80%) HP:0001043
34 acanthosis nigricans 56 32 occasional (7.5%) Occasional (29-5%) HP:0000956
35 cyanosis 56 32 frequent (33%) Frequent (79-30%) HP:0000961
36 hypohidrosis 56 32 frequent (33%) Frequent (79-30%) HP:0000966
37 hypotrichosis 56 32 frequent (33%) Frequent (79-30%) HP:0001006
38 metaphyseal widening 56 32 frequent (33%) Frequent (79-30%) HP:0003016
39 sensorineural hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000407
40 ovoid vertebral bodies 56 32 frequent (33%) Frequent (79-30%) HP:0003300
41 high pitched voice 56 32 hallmark (90%) Very frequent (99-80%) HP:0001620
42 intermittent claudication 56 32 frequent (33%) Frequent (79-30%) HP:0004417
43 premature graying of hair 56 32 frequent (33%) Frequent (79-30%) HP:0002216
44 dental crowding 56 32 occasional (7.5%) Occasional (29-5%) HP:0000678
45 nail dysplasia 56 32 frequent (33%) Frequent (79-30%) HP:0002164
46 short clavicles 56 32 hallmark (90%) Very frequent (99-80%) HP:0000894
47 thrombocytosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001894
48 lipoatrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0100578
49 prolonged prothrombin time 56 32 frequent (33%) Frequent (79-30%) HP:0008151
50 aplastic clavicles 56 32 hallmark (90%) Very frequent (99-80%) HP:0006660

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.53 TMPO
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.53 TMPO
3 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.53 TMPO
4 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.53 TMPO LMNA LMNB1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.53 TMPO
6 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.53 LMNA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.53 TMPO
8 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.53 LMNB1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.53 TMPO LMNB1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.53 TMPO
11 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.53 LMNB1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.53 LMNB1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.53 LMNA

MGI Mouse Phenotypes related to Hutchinson-Gilford Progeria:

44 (show all 18)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.34 ADIPOQ B4GALT1 H2AFX LAMA1 LMNA LMNB1
2 growth/size/body region MP:0005378 10.29 LMNA LMNB1 PRKDC TWIST2 WRN ZMPSTE24
3 hematopoietic system MP:0005397 10.27 ADIPOQ B4GALT1 GGT1 H2AFX LMNA LMNB1
4 homeostasis/metabolism MP:0005376 10.26 ADIPOQ B4GALT1 ENPP1 GGT1 H2AFX LMNA
5 cardiovascular system MP:0005385 10.22 ADIPOQ B4GALT1 ENPP1 H2AFX LAMA1 LMNA
6 endocrine/exocrine gland MP:0005379 10.22 WRN ZMPSTE24 ADIPOQ B4GALT1 GGT1 H2AFX
7 mortality/aging MP:0010768 10.21 ADIPOQ ANK3 B4GALT1 ENPP1 GGT1 H2AFX
8 adipose tissue MP:0005375 10.18 ADIPOQ B4GALT1 ENPP1 LMNA PRKDC TWIST2
9 integument MP:0010771 10.17 WRN ZMPSTE24 ADIPOQ B4GALT1 ENPP1 GGT1
10 immune system MP:0005387 10.16 ADIPOQ B4GALT1 ENPP1 GGT1 H2AFX LMNA
11 digestive/alimentary MP:0005381 10.08 B4GALT1 LMNA PRKDC TMPO TWIST2 WRN
12 craniofacial MP:0005382 10.02 TWIST2 WRN ZMPSTE24 LMNA LMNB1 PRKDC
13 limbs/digits/tail MP:0005371 9.88 GGT1 LMNA TMPO TWIST2 WRN ZMPSTE24
14 muscle MP:0005369 9.87 ADIPOQ ENPP1 LMNA LMNB1 PRKDC TWIST2
15 renal/urinary system MP:0005367 9.8 ADIPOQ ANK3 ENPP1 GGT1 LMNA PRKDC
16 respiratory system MP:0005388 9.7 ANK3 B4GALT1 LMNA LMNB1 PRKDC TWIST2
17 skeleton MP:0005390 9.61 ADIPOQ ENPP1 GGT1 LMNA LMNB1 PRKDC
18 vision/eye MP:0005391 9.23 ENPP1 GGT1 H2AFX LAMA1 LMNA PRKDC

Drugs & Therapeutics for Hutchinson-Gilford Progeria

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

(show all 19)
id 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

Interventional clinical trials:


id 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

Search NIH Clinical Center for Hutchinson-Gilford Progeria

Cochrane evidence based reviews: progeria

Genetic Tests for Hutchinson-Gilford Progeria

Genetic tests related to Hutchinson-Gilford Progeria:

id Genetic test Affiliating Genes
1 Hutchinson-Gilford Syndrome 29
2 Hutchinson-Gilford Progeria Syndrome 24 LMNA

Anatomical Context for Hutchinson-Gilford Progeria

MalaCards organs/tissues related to Hutchinson-Gilford Progeria:

39
Skin, Heart, Eye, Bone, Cortex, Smooth Muscle

Publications for Hutchinson-Gilford Progeria

Articles related to Hutchinson-Gilford Progeria:

(show top 50) (show all 208)
id Title Authors Year
1
Metformin alleviates ageing cellular phenotypes in Hutchinson-Gilford progeria syndrome dermal fibroblasts. ( 28192606 )
2017
2
Progerin-Induced Replication Stress Facilitates Premature Senescence in Hutchinson Gilford Progeria Syndrome. ( 28483909 )
2017
3
A Tissue Engineered Blood Vessel Model of Hutchinson-Gilford Progeria Syndrome Using Human iPSC-derived Smooth Muscle Cells. ( 28811655 )
2017
4
Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease. ( 28660486 )
2017
5
Aging in the Cardiovascular System: Lessons from Hutchinson-Gilford Progeria Syndrome. ( 28934587 )
2017
6
Redox imbalance in a model of rat mimicking Hutchinson-Gilford progeria syndrome. ( 28728841 )
2017
7
Chemical screening identifies ROCK as a target for recovering mitochondrial function in Hutchinson-Gilford progeria syndrome. ( 28317242 )
2017
8
The clinical characteristics of Asian patients with classical-type Hutchinson-Gilford progeria syndrome. ( 28878338 )
2017
9
Interruption of progerin-lamin A/C binding ameliorates Hutchinson-Gilford progeria syndrome phenotype. ( 27617860 )
2016
10
Vitamin D receptor signaling improves Hutchinson-Gilford progeria syndrome cellular phenotypes. ( 27145372 )
2016
11
Temsirolimus Partially Rescues the Hutchinson-Gilford Progeria Cellular Phenotype. ( 28033363 )
2016
12
A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome. ( 27920058 )
2016
13
Hutchinson-Gilford Progeria Syndrome: A premature aging disease caused by LMNA gene mutations. ( 27374873 )
2016
14
Cardiac electrical defects in progeroid mice and Hutchinson-Gilford progeria syndrome patients with nuclear lamina alterations. ( 27799555 )
2016
15
Anaesthesia and orphan disease: Hutchinson-Gilford progeria syndrome, a case report and summary of previous cases. ( 27749465 )
2016
16
Clinical Trial of the Protein Farnesylation Inhibitors Lonafarnib, Pravastatin, and Zoledronic Acid in Children With Hutchinson-Gilford Progeria Syndrome. ( 27400896 )
2016
17
Drug screening on Hutchinson Gilford progeria pluripotent stem cells reveals aminopyrimidines as new modulators of farnesylation. ( 26890144 )
2016
18
Metformin decreases progerin expression and alleviates pathological defects of Hutchinson-Gilford progeria syndrome cells. ( 28721276 )
2016
19
Loss of H3K9me3 Correlates with ATM Activation and Histone H2AX Phosphorylation Deficiencies in Hutchinson-Gilford Progeria Syndrome. ( 27907109 )
2016
20
Progerin impairs chromosome maintenance by depleting CENP-F from metaphase kinetochores in Hutchinson-Gilford progeria fibroblasts. ( 27015553 )
2016
21
Hutchinson-Gilford progeria syndrome as a model for vascular aging. ( 26330290 )
2015
22
Vascular disease modeling using induced pluripotent stem cells: Focus in Hutchinson-Gilford Progeria Syndrome. ( 26474704 )
2015
23
Restoring SIRT6 Expression in Hutchinson-Gilford Progeria Syndrome Cells Impedes Premature Senescence and Formation of Dysmorphic Nuclei. ( 25765721 )
2015
24
All-trans retinoic acid and rapamycin normalize Hutchinson Gilford progeria fibroblast phenotype. ( 26359359 )
2015
25
Hutchinson-Gilford progeria syndrome. ( 26564085 )
2015
26
Progerin reduces LAP2I+-telomere association in Hutchinson-Gilford progeria. ( 26312502 )
2015
27
Can Hutchinson-Gilford progeria syndrome be cured in the future? ( 25984432 )
2015
28
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
29
Sulforaphane enhances progerin clearance in Hutchinson-Gilford progeria fibroblasts. ( 25510262 )
2015
30
Hutchinson-Gilford progeria. ( 25946677 )
2015
31
Hutchinson-Gilford Progeria Syndrome Caused by an LMNA Mutation: A Case Report. ( 25556323 )
2015
32
Treatment considerations in hutchinson-gilford progeria syndrome: a case report. ( 25823488 )
2015
33
DNA repair defects and genome instability in Hutchinson-Gilford Progeria Syndrome. ( 26079711 )
2015
34
Hutchinson-Gilford progeria syndrome. ( 26753148 )
2015
35
Signaling pathway activation drift during aging: Hutchinson-Gilford Progeria Syndrome fibroblasts are comparable to normal middle-age and old-age cells. ( 25587796 )
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
Clinical and radiographic features of Hutchinson-Gilford progeria syndrome: A case report. ( 24653988 )
2014
39
Hutchinson-gilford progeria versus mandibuloacral dysplasia. ( 24700965 )
2014
40
Epigenetic involvement in Hutchinson-Gilford progeria syndrome: a mini-review. ( 24603298 )
2014
41
Impact of farnesylation inhibitors on survival in Hutchinson-Gilford progeria syndrome. ( 24795390 )
2014
42
Hutchinson - Gilford progeria syndrome: A rare case report. ( 25396134 )
2014
43
Interfacial binding and aggregation of lamin A tail domains associated with Hutchinson-Gilford progeria syndrome. ( 25194277 )
2014
44
Dental and craniofacial characteristics in a patient with Hutchinson-Gilford progeria syndrome. ( 25001855 )
2014
45
Hutchinson-Gilford progeria syndrome with scleroderma-like skin changes due to a homozygous missense LMNA mutation. ( 25371241 )
2014
46
Hutchinson-Gilford progeria syndrome alters nuclear shape and reduces cell motility in three dimensional model substrates. ( 23370891 )
2013
47
Neurologic features of Hutchinson-Gilford progeria syndrome after lonafarnib treatment. ( 23897869 )
2013
48
Extradural hematoma surgery in a child with Hutchinson-Gilford progeria syndrome: Perioperative concerns. ( 24082942 )
2013
49
New Lmna knock-in mice provide a molecular mechanism for the 'segmental aging' in Hutchinson-Gilford progeria syndrome. ( 24203701 )
2013
50
Aberrant DNA methylation profiles in the premature aging disorders Hutchinson-Gilford Progeria and Werner syndrome. ( 23257959 )
2013

Variations for Hutchinson-Gilford Progeria

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

71
id 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:

6 (show all 17)
id 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.1824C> T (p.Gly608=) single nucleotide variant Pathogenic rs58596362 GRCh37 Chromosome 1, 156108404: 156108404
3 LMNA NM_170707.3(LMNA): c.1822G> A (p.Gly608Ser) single nucleotide variant Pathogenic rs61064130 GRCh37 Chromosome 1, 156108402: 156108402
4 LMNA NM_170707.3(LMNA): c.433G> A (p.Glu145Lys) single nucleotide variant Pathogenic rs60310264 GRCh37 Chromosome 1, 156100484: 156100484
5 LMNA NM_170707.3(LMNA): c.1821G> A (p.Val607=) single nucleotide variant Pathogenic rs59886214 GRCh37 Chromosome 1, 156108401: 156108401
6 LMNA NM_170707.3(LMNA): c.1619T> C (p.Met540Thr) single nucleotide variant Pathogenic rs267607547 GRCh37 Chromosome 1, 156107455: 156107455
7 LMNA NM_170707.3(LMNA): c.1868C> G (p.Thr623Ser) single nucleotide variant Pathogenic rs59267781 GRCh37 Chromosome 1, 156108448: 156108448
8 LMNA NM_170707.3(LMNA): c.1968+1G> A single nucleotide variant Pathogenic rs113436208 GRCh37 Chromosome 1, 156108549: 156108549
9 LMNA NM_170707.3(LMNA): c.667G> A (p.Glu223Lys) single nucleotide variant Pathogenic rs797044485 GRCh38 Chromosome 1, 156134832: 156134832
10 LMNA NM_170707.3(LMNA): c.1699_1968del270 (p.Gly567_Gln656del) deletion Pathogenic GRCh38 Chromosome 1, 156138488: 156138757
11 LMNA NM_170707.3(LMNA): c.1771T> A (p.Cys591Ser) single nucleotide variant Pathogenic rs797044486 GRCh38 Chromosome 1, 156138560: 156138560
12 LMNA NM_170707.3(LMNA): c.1968G> A (p.Gln656=) single nucleotide variant Pathogenic rs797044487 GRCh38 Chromosome 1, 156138757: 156138757
13 LMNA NM_170707.3(LMNA): c.1968+1G> C single nucleotide variant Pathogenic rs113436208 GRCh38 Chromosome 1, 156138758: 156138758
14 LMNA NM_170707.3(LMNA): c.1968+2T> A single nucleotide variant Pathogenic rs113860699 GRCh38 Chromosome 1, 156138759: 156138759
15 LMNA NM_170707.3(LMNA): c.1968+2T> C single nucleotide variant Pathogenic rs113860699 GRCh38 Chromosome 1, 156138759: 156138759
16 LMNA NM_170707.3(LMNA): c.1968+5G> A single nucleotide variant Pathogenic rs797044488 GRCh38 Chromosome 1, 156138762: 156138762
17 LMNA NM_170707.3(LMNA): c.1968+5G> C single nucleotide variant Pathogenic rs797044488 GRCh38 Chromosome 1, 156138762: 156138762

Expression for Hutchinson-Gilford Progeria

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

Pathways for Hutchinson-Gilford Progeria

GO Terms for Hutchinson-Gilford Progeria

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

id Name GO ID Score Top Affiliating Genes
1 nuclear envelope GO:0005635 9.46 LMNA LMNB1 RAN TMPO
2 nuclear inner membrane GO:0005637 9.43 LMNB1 TMPO ZMPSTE24
3 extracellular matrix GO:0031012 9.1 ACAN LAMA1 LMNA PRELP PRKDC RAN
4 lamin filament GO:0005638 8.96 LMNA LMNB1

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

id Name GO ID Score Top Affiliating Genes
1 DNA recombination GO:0006310 9.58 H2AFX PRKDC WRN
2 cellular response to insulin stimulus GO:0032869 9.5 ADIPOQ ENPP1 PRKDC
3 extracellular matrix organization GO:0030198 9.46 ACAN B4GALT1 ELN LAMA1
4 nuclear envelope organization GO:0006998 9.43 LMNA ZMPSTE24
5 keratan sulfate catabolic process GO:0042340 9.37 ACAN PRELP
6 negative regulation of protein autophosphorylation GO:0031953 9.26 ADIPOQ ENPP1
7 double-strand break repair GO:0006302 9.13 H2AFX PRKDC WRN
8 keratan sulfate biosynthetic process GO:0018146 8.8 ACAN B4GALT1 PRELP

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

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.91 ACAN ADIPOQ ANK3 ELN ENPP1 GGT1
2 extracellular matrix structural constituent GO:0005201 8.92 ACAN ELN LAMA1 PRELP

Sources for Hutchinson-Gilford Progeria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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