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
See all sources

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
Prelamin A causes progeria through cell-extrinsic mechanisms and prevents cancer invasion. (23917225)
2013
2
Progeria with post-streptococcal glomerulonephritis: a rare case report with differential diagnosis. (23396468)
2013
3
Lifespan extension by dietary intervention in a mouse model of Cockayne syndrome uncouples early postnatal development from segmental progeria. (23895664)
2013
4
An inherited LMNA gene mutation in atypical Progeria syndrome. (22991222)
2012
5
Progeria: pathogenesis and oral manifestation--a review. (22971867)
2012
6
Lonafarnib for cancer and progeria. (22620979)
2012
7
Simultaneous shoulder and hip dislocation in a 12-year-old girl with Hutchinson-Gilford progeria syndrome. (22837124)
2012
8
A prospective study of radiographic manifestations in Hutchinson-Gilford progeria syndrome. (22752073)
2012
9
Do you know this syndrome? Huntchinson-Gilford Syndrome (Progeria). (21437546)
2011
10
In vitro pathological modelling using patient-specific induced pluripotent stem cells: the case of progeria. (22103524)
2011
11
Otologic and audiologic manifestations of Hutchinson-Gilford progeria syndrome. (21898437)
2011
12
Ocular manifestations in the Hutchinson-Gilford progeria syndrome. (22011502)
2011
13
A-type lamins and Hutchinson-Gilford progeria syndrome: pathogenesis and therapy. (21622261)
2011
14
Discordant gene expression signatures and related phenotypic differences in lamin A- and A/C-related Hutchinson-Gilford progeria syndrome (HGPS). (21738662)
2011
15
Hutchinson-Gilford progeria syndrome, cardiovascular disease and oxidative stress. (21622271)
2011
16
Dedifferentiation rescues senescence of progeria cells but only while pluripotent. (21639955)
2011
17
Reflections: neurology and the humanities. Description of a family with progeria by Charles Dickens. (20697111)
2010
18
Homozygous LMNA mutation R527C in atypical Hutchinson-Gilford progeria syndrome: evidence for autosomal recessive inheritance. (19432833)
2009
19
Gone with the Wnt/Notch: stem cells in laminopathies, progeria, and aging. (18378774)
2008
20
Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation. (18339564)
2008
21
Prematurely aged children: molecular alterations leading to Hutchinson-Gilford progeria and Werner syndromes. (20021393)
2008
22
Reversible phenotype in a mouse model of Hutchinson-Gilford progeria syndrome. (18708427)
2008
23
New approaches to progeria. (17908771)
2007
24
Aggrecan expression is substantially and abnormally upregulated in Hutchinson-Gilford Progeria Syndrome dermal fibroblasts. (16650460)
2006
25
Blocking protein farnesyltransferase improves nuclear blebbing in mouse fibroblasts with a targeted Hutchinson-Gilford progeria syndrome mutation. (16014412)
2005
26
Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. (15184648)
2004
27
LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome. (15121795)
2004
28
Hutchinson-Gilford progeria syndrome with severe calcific aortic valve stenosis and calcific mitral valve. (15473493)
2004
29
Hyaluronan is not elevated in urine or serum in Hutchinson-Gilford Progeria Syndrome. (12728312)
2003
30
Drawing the line in progeria syndromes. (12927424)
2003
31
Anaesthesia for a child with progeria. (11359600)
2001
32
Human aging and progeria. (11202224)
2000
33
Lethal neonatal Hutchinson-Gilford progeria syndrome. (10215548)
1999
34
Images in clinical practice. Progeria. (9567562)
1997
35
No detectable mutations at Werner helicase locus in progeria. (8874483)
1996
36
A case of Hutchinson-Gilford progeria syndrome mimicking scleredema in early infancy. (8193408)
1994
37
A ScaI RFLP at the E-selectin (SELE) locus in a progeria family. (7689014)
1993
38
Progeria. (2649013)
1989
39
Evidence for autosomal recessive inheritance of progeria (Hutchinson Gilford). (3228132)
1988
40
Scar and keloidlike lesions in progeria. An electron-microscopic and immunohistochemical study. (3401034)
1988
41
Increased secretion of fibronectin and collagen by progeria (Hutchinson-Gilford) fibroblasts. (3396601)
1988
42
Urinary hyaluronic acid elevation in Hutchinson-Gilford progeria syndrome. (3736130)
1986
43
Progeria, a model disease for the study of accelerated aging. (4062819)
1985
44
Orthopaedic aspects of progeria. (7068697)
1982
45
Osteosarcoma in a patient with Hutchinson-Gilford progeria. (284134)
1978
46
Unstable enzymes in erythrocytes of a family with the Hutchinson--Gilford progeria syndrome. (662891)
1978
47
Radiological findings in progeria. (5153663)
1971
48
Progeria and scleroderma in infancy. (5567408)
1971
49
Progeria (Hastings Gilford) Presenting as Scleroderma in Early Infancy. (19994154)
1962
50
Progeria (Hutchinson-Gilford syndrome). Report of a case and review of the literature. (14783429)
1950

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
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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