HGPS
MCID: PRG004
MIFTS: 76

Progeria (HGPS) malady

Eye diseases, Bone diseases, Skin diseases, Fetal diseases categories

Summaries for Progeria

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42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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; 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: 11/19/2012

MalaCards: Progeria, also known as hutchinson-gilford progeria syndrome, is related to werner syndrome and atherosclerosis, and has symptoms including acrocyanosis/raynaud's phenomenon/vasomotor disorders, angor pectoris/myocardial infarction and abnormal cry/voice/phonation disorder/nasal speech. An important gene associated with Progeria is LMNA (lamin A/C), and among its related pathways are Breakdown of the nuclear lamina and M Phase. The compounds 8-hydroxyadenine and 8-hydroxyguanine have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and heart, and related mouse phenotypes are adipose tissue and limbs/digits/tail.

Genetics Home Reference:21 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 disrupt intellectual development or the development of motor skills such as sitting, standing, and walking.

Wikipedia:63 Progeria (pronunciation: /proʊˈdʒɪəriə/) (Hutchinson–Gilford progeria syndrome,HGPS, progeria... more...

Description from OMIM:46 176670

GeneReviews summary for hgps

Aliases & Classifications for Progeria

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Sources:
8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 19GeneReviews, 22GTR, 9diseasecard, 46OMIM, 20GeneTests, 34MeSH, 39NCIt, 56SNOMED-CT, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Eye diseases, Bone diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
progeria:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

progeria 8 63 42 21 10 44 48 60
hutchinson-gilford progeria syndrome 8 63 19 21 48
hgps 8 63 19 42 21
hutchinson gilford progeria syndrome 63 42 20 60
hutchinson gilford syndrome 8 19 42
hutchinson-gilford syndrome 8 22 21
hutchinson-gilford progeria 9 46
hutchinson-gilford disease 8
progeria of childhood 21
progeria syndrome 8


External Ids:

Disease Ontology8 DOID:3911
MeSH34 D011371
OMIM46 176670
NCIt39 C34951
ICD10 via Orphanet26 E34.8
SNOMED-CT via Orphanet57 238870004
UMLS via Orphanet61 C0033300
MESH via Orphanet35 D011371

Related Diseases for Progeria

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Progeria via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 80)
idRelated DiseaseScoreTop Affiliating Genes
1werner syndrome30.7HELLS, LMNA, WRN
2atherosclerosis30.2LMNA, ELN, GGT1, SOD2, WRN
3muscular dystrophy30.0LMNA, EMD, LMNB1
4lipodystrophy30.0ZMPSTE24, LMNB1, EMD, LMNA
5cataract30.0WRN
6adenocarcinoma29.8GGT1, SOD2, ELN
7neuropathy29.8LMNA, EMD, SOD2
8adult syndrome10.5
9nestor-guillermo progeria syndrome10.4
10cockayne syndrome10.3
11scleroderma10.2
12skin disease10.2
13progeria - short stature - pigmented nevi10.1
14coloboma10.0
15cerebritis10.0
16xeroderma pigmentosum10.0
17aortic valve stenosis10.0
18hypertension10.0
19myopathy10.0
20osteosarcoma10.0
21retinitis10.0
22dwarfism10.0
23image syndrome10.0
24neonatal progeroid syndrome10.0
25progeria variant syndrome ruvalcaba type10.0
26lmna-related cardiocutaneous progeria syndrome10.0
27progeria-associated arthropathy10.0
28epidermodysplasia verruciformis10.0TAF7
29mandibuloacral dysplasia10.0ZMPSTE24, LMNA
30tight skin contracture syndrome, lethal10.0ZMPSTE24, LMNA
31emery-dreifuss muscular dystrophy 2, ad10.0LMNA, EMD
32familial partial lipodystrophy10.0LMNA, EMD
33emery-dreifuss muscular dystrophy10.0LMNA, EMD
34congenital generalized lipodystrophy type 210.0LMNA, ZMPSTE24
35chronic progressive external ophthalmoplegia10.0SOD2, HELLS
36herpes simplex10.0SOD2, HELLS
37hyperhomocysteinemia10.0ELN
38leukemia10.0LMNB1, BANF1, HELLS
39rothmund-thomson syndrome10.0WRN, HELLS
40congenital heart defect10.0SOD2, LMNA, EMD
41coronary artery disease9.9
42carotid stenosis9.9
43dyskeratosis congenita9.9
44mitral valve stenosis9.9
45ataxia telangiectasia9.9
46hypoparathyroidism9.9
47calciphylaxis9.9
48osteoarthritis9.9
49microcephaly9.9
50phenylketonuria9.9

Graphical network of the top 20 diseases related to Progeria:



Diseases related to progeria

Clinical Features for Progeria

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

176670

Clinical synopsis from OMIM:

176670

Symptoms:

48 (show all 43)
  • acrocyanosis/raynaud's phenomenon/vasomotor disorders
  • angor pectoris/myocardial infarction
  • abnormal cry/voice/phonation disorder/nasal speech
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • tight skin/lack of elasticity
  • rippled skin
  • global upper and lower limbs anomalies
  • arterial atheroma/precocious atherosclerosis/arteriosclerosis
  • abnormal gait
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • osteolysis/osteoclasia/bone destruction/erosions
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • nephrosclerosis
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • articular/joint pain/arthralgia
  • terminal/third phalangeal bone of fingers hypoplasia
  • clavicle absent/abnormal
  • external ear anomalies
  • anomalies of teeth and dentition
  • thin/hypoplastic/hyperconvex fingernails
  • alopecia
  • decreased body hair/axillar/pubic hairlessness
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • thin skin
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • anodontia/oligodontia/hypodontia
  • micrognathia/retrognathia/micrognathism/retrognathism
  • proptosis/exophthalmos
  • narrow face
  • thin/hypoplastic toenails
  • late puberty/hypogonadism/hypogenitalism
  • abnormal fat distribution/lipodystrophy
  • thin/retracted lips
  • beaked nose
  • anomalies of eyelids, eyelashes and lacrimal system
  • large fontanelle/delayed fontanelle closure
  • asthenia/fatigue/weakness
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • premature ageing
  • early death/lethality
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • short stature/dwarfism/nanism
  • skull/cranial anomalies

Drugs & Therapeutics for Progeria

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Progeria

Drug clinical trials:

Search ClinicalTrials for Progeria

Search NIH Clinical Center for Progeria

Search CenterWatch for Progeria

Genetic Tests for Progeria

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Progeria:

id Genetic test Affiliating Genes
1 Hutchinson-Gilford Progeria Syndrome20 LMNA
2 Hutchinson-Gilford Syndrome22

Anatomical Context for Progeria

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32MalaCards
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MalaCards organs/tissues related to Progeria:

32
Skin, Eye, Heart, Bone, Smooth muscle, Skeletal muscle, T cells, Kidney, Liver

Animal Models for Progeria or affiliated genes

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36MGI
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Publications for Progeria

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Sources:
50PubMed
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Articles related to Progeria:

(show top 50)    (show all 441)
idTitleAuthorsYear
1
Hutchinson-gilford progeria syndrome: a rare genetic disorder. (24288630)
2013
2
Targeting isoprenylcysteine methylation ameliorates disease in a mouse model of progeria. (23686339)
2013
3
Hutchinson-gilford progeria syndrome and its relevance to cardiovascular diseases and normal aging. (23611131)
2013
4
Bilateral stenosis of carotid siphon in Hutchinson-Gilford progeria syndrome. (23141186)
2013
5
Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports. (23497705)
2013
6
Rapamycin activates autophagy in Hutchinson-Gilford progeria syndrome: implications for normal aging and age-dependent neurodegenerative disorders. (22170152)
2012
7
A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome. (22549407)
2012
8
Skeletal muscle contractile function and neuromuscular performance in Zmpste24 -/- mice, a murine model of human progeria. (21713376)
2012
9
Rapamycin as an antiaging therapeutic?: targeting mammalian target of rapamycin to treat Hutchinson-Gilford progeria and neurodegenerative diseases. (21851176)
2011
10
Schizophrenia as segmental progeria. (22048679)
2011
11
Amphibian oocyte nuclei expressing lamin A with the progeria mutation E145K exhibit an increased elastic modulus. (21941106)
2011
12
Assessing the efficacy of protein farnesyltransferase inhibitors in mouse models of progeria. (19965595)
2010
13
Importance of molecular cell biology investigations in human medicine in the story of the Hutchinson-Gilford progeria syndrome. (21217880)
2010
14
Bilateral shoulder dislocation in a 7-year-old child with progeria syndrome. (19240685)
2009
15
Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model. (19379495)
2009
16
Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. (18796515)
2008
17
Research on Hutchinson-Gilford progeria syndrome. (18772464)
2008
18
An association of Hutchinson-Gilford progeria and malignancy. (17618517)
2007
19
Hutchinson-Gilford progeria syndrome with severe skin calcinosis. (17459069)
2007
20
Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson-Gilford progeria syndrome. (16492728)
2006
21
Adaptive stress response in segmental progeria resembles long-lived dwarfism and calorie restriction in mice. (17173483)
2006
22
Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome. (15286156)
2004
23
Fibroblast clones from patients with Hutchinson-Gilford progeria can senesce despite the presence of telomerase. (15050279)
2004
24
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). (12768443)
2003
25
Epidural hematomas in a child with Hutchinson-Gilford progeria syndrome. (12541091)
2003
26
Anaesthesia in a child with Hutchinson-Gildford progeria. (11696128)
2001
27
Histological and ultrastructural features of atherosclerosis in progeria. (10722246)
1999
28
Excess of rare cancers in Werner syndrome (adult progeria). (8722214)
1996
29
Progeria: medical aspects, psychosocial perspectives, and intervention guidelines. (10160542)
1995
30
Does progeria provide the best model of accelerated ageing in humans? (2376331)
1990
31
Progeria in a pediatric dental patient: literature review and case report. (2978820)
1988
32
A case of the Hutchinson-Gilford progeria syndrome. (7167089)
1982
33
Subpopulations of human T lymphocytes. XVII. Imbalance of T cell subsets in patients with progeria and Werner's syndrome. (6974677)
1981
34
Progeria and anesthesia. (573568)
1979
35
Progeria: clinical considerations of an isolated case. (290644)
1979
36
Hutchinson-Gilford progeria syndrome: report of a case presenting with hypertensive cerebrovascular disease. (710351)
1978
37
Progeria, a case report from Iran. (1272599)
1976
38
Letter: Progeria in twins. (933116)
1976
39
Progeria cells are stimulated to repair DNA by co-cultivation with normal cells. (1248520)
1976
40
Letter: Progeria: a possible therapeutic approach. (4406015)
1974
41
Progeria: reduced growth of human progeric-mouse hybrids. (4606949)
1974
42
A progeria-like syndrome produced by dihydrotachysterol: its prevention by conjugated estrogens (Premarin). (4313216)
1970
43
Progeria. (5930811)
1966
44
PROGERIA, OR MARKED SENILITY IN CHILDHOOD. (14261241)
1965
45
EFFECT OF VITAMIN E AND METHYLTESTOSTERONE UPON THE PROGERIA-LIKE SYNDROME PRODUCED BY DIHYDROTACHYSTEROL. (14067448)
1963
46
Heredity in progeria; with follow-up of two affected sisters. (13171984)
1954
47
Progeria. (14782720)
1950
48
A syndrome resembling progeria: A review of two cases. (14783428)
1950
49
Progeria? with erythema of hands and feet, partial alopecia, congenital coloboma and osteoporosis. (18210563)
1949
50
Progeria. (19986191)
1927

Genetic Variations for Progeria

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Progeria:

62
id Symbol AA change Variation ID SNP ID
1LMNAp.Leu140ArgVAR_017658rs60652225
2LMNAp.Glu145LysVAR_017659rs60310264
3LMNAp.Arg471CysVAR_017662rs28928902
4LMNAp.Arg527CysVAR_017663
5LMNAp.Gly608SerVAR_017664
6LMNAp.Ser143PheVAR_034707rs58912633
7LMNAp.Lys542AsnVAR_034710
8LMNAp.Glu138LysVAR_070175

Expression for genes affiliated with Progeria

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Progeria

Search GEO for disease gene expression data for Progeria.

Pathways for genes affiliated with Progeria

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Sources:
53Reactome, 51QIAGEN, 29KEGG, 12EMD Millipore, 37NCBI BioSystems Database
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Pathways related to Progeria according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4LMNB1, LMNA
2
Hide members
10.2BANF1, EMD, LMNA, LMNB1
3
Hide members
10.2LMNB1, LMNA, EMD, BANF1
4
Hide members
10.2LMNB1, LMNA, EMD, BANF1
5
Hide members
10.1BANF1, TAF5, TAF10, TAF6
6
Hide members
10.1TAF5, TAF10, TAF7, TAF6
7
Hide members
10.1TAF5, TAF10, TAF7, TAF6
8
Transcription Ligand-Dependent Transcription of Retinoid-Target genes
Hide members
10.1TAF5, TAF10, TAF7, TAF6
9
Hide members
10.1TAF5, TAF10, TAF7, TAF6
1010.0TAF6, TAF10, TAF5, BANF1, PRELP
11
Hide members
9.9HELLS, SOD2, TAF5, TAF10, TAF7, TAF6

Compounds for genes affiliated with Progeria

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44Novoseek, 11DrugBank
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Compounds related to Progeria according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
18-hydroxyadenine4410.5HELLS, WRN
28-hydroxyguanine4410.5SOD2, HELLS
38-oxoguanine4410.5WRN, SOD2, HELLS
4tripeptide4410.4ZMPSTE24, RCE1, GGT1
5lutein4410.3GGT1, SOD2
6betacarotene4410.3ELN, GGT1, SOD2
7bleomycin44 1111.3SOD2, WRN, ELN
8arginine4410.1ELN, NLRP12, HELLS, SOD2, WRN, PRELP
9cysteine4410.1NLRP12, HELLS, SOD2, WRN, RCE1, LMNB1
10thermolysin4410.1ELN, ZMPSTE24
11h2o24410.0HELLS, SOD2, WRN, GGT1, ELN

GO Terms for genes affiliated with Progeria

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16Gene Ontology
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Cellular components related to Progeria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear envelopeGO:00563510.3LMNB1, LMNA, EMD
2nuclear inner membraneGO:00563710.3LMNB1, EMD, ZMPSTE24
3transcription factor TFTC complexGO:03327610.2TAF6, TAF7, TAF10, TAF5
4transcription factor TFIID complexGO:00566910.1TAF5, TAF10, TAF7, TAF6
5lamin filamentGO:00563810.1LMNB1, LMNA
6nucleoplasmGO:0056549.8WRN, BANF1, TAF5, TAF10, TAF6, LMNA

Biological processes related to Progeria according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1CAAX-box protein processingGO:07158610.4ZMPSTE24, RCE1
2mitotic nuclear envelope reassemblyGO:00708410.4LMNA, EMD, BANF1
3mitotic nuclear envelope disassemblyGO:00707710.3LMNA, EMD, BANF1
4DNA-dependent transcription, initiationGO:00635210.3TAF6, TAF7, TAF10, TAF5
5transcription initiation from RNA polymerase II promoterGO:00636710.1TAF5, TAF10, TAF7, TAF6
6transcription from RNA polymerase II promoterGO:00636610.1TAF6, TAF7, TAF10, TAF5
7transcription elongation from RNA polymerase II promoterGO:00636810.1TAF6, TAF10, TAF5
8viral processGO:0160329.8BANF1, TAF5, TAF10, TAF6

Molecular functions related to Progeria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055159.4ELN, HELLS, WRN, BANF1, EMD, TAF5

Products for genes affiliated with Progeria

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Progeria

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet