HGPS
MCID: PRG004
MIFTS: 76

Progeria (HGPS) malady

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

Summaries for Progeria

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 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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8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 39NCIt, 56SNOMED-CT, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet
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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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50PubMed
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Articles related to Progeria:

(show top 50)    (show all 441)
idTitleAuthorsYear
1
Defective nuclear import of Tpr in Progeria reflects the Ran sensitivity of large cargo transport. (23649804)
2013
2
Hutchinson-Gilford progeria syndrome through the lens of transcription. (23496208)
2013
3
Special issue on the segmental progeria Cockayne syndrome. (23584053)
2013
4
Hutchinson-Gilford progeria syndrome alters nuclear shape and reduces cell motility in three dimensional model substrates. (23370891)
2013
5
Suspected progeria in Nigeria: a case report. (24122691)
2013
6
DNA damage triggers a chronic autoinflammatory response, leading to fat depletion in NER progeria. (24011075)
2013
7
A proteomic study of Hutchinson-Gilford progeria syndrome: Application of 2D-chromotography in a premature aging disease. (22210539)
2012
8
Medicine. Drug trial offers uncertain start in race to save children with progeria. (23019622)
2012
9
Progeria: translational insights from cell biology. (23027899)
2012
10
Abberent expression analysis of LMNA gene in hutchinson-gilford progeria syndrome. (22493523)
2012
11
Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells. (21715679)
2011
12
Effect of progerin on the accumulation of oxidized proteins in fibroblasts from Hutchinson Gilford progeria patients. (19958786)
2010
13
Progeria, the nucleolus and farnesyltransferase inhibitors. (20074076)
2010
14
Aortic calcification in a patient with hutchinson-gilford progeria syndrome. (20401475)
2010
15
Signaling defects and the nuclear envelope in progeria. (20833355)
2010
16
Cardiovascular pathology in Hutchinson-Gilford progeria: correlation with the vascular pathology of aging. (20798379)
2010
17
Telomere length in Hutchinson-Gilford progeria syndrome. (19428457)
2009
18
Progeria syndrome: a case report. (19823665)
2008
19
Hutchinson-Gilford progeria syndrome: clinical and molecular analysis in an African patient]. (17511383)
2007
20
The truncated prelamin A in Hutchinson-Gilford progeria syndrome alters segregation of A-type and B-type lamin homopolymers. (16481358)
2006
21
Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation. (16825282)
2006
22
Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition. (16126733)
2005
23
Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome. (15750600)
2005
24
Genome instability in progeria: when repair gets old. (16015360)
2005
25
Molecular cytogenetic insights into the ageing syndrome Hutchinson-Gilford Progeria (HGPS). (16093717)
2005
26
Reduced adiponectin and HDL cholesterol without elevated C-reactive protein: clues to the biology of premature atherosclerosis in Hutchinson-Gilford Progeria Syndrome. (15756215)
2005
27
Hutchinson-Gilford progeria syndrome: a pathologic study. (11842974)
2002
28
P53-status of cells from patients with progeria and ataxia-telangiectasia exposed to ionizing irradiation]. (10563391)
1999
29
A case of progeria in a Saudi child presenting with cerebral infarction. (17589026)
1995
30
Hyaluronic acid in progeria and the aged phenotype? (1624142)
1992
31
Reduced DNA-repair capacity in cells originating from a progeria patient. (2079964)
1990
32
Hutchinson-Gilford progeria syndrome: report of a Libyan family and evidence of autosomal recessive inheritance. (2721021)
1989
33
The musculoskeletal manifestations of progeria. A literature review. (3041391)
1988
34
Werner's syndrome (progeria of the adult) and Rothmund's syndrome: two types of closely related heredofamilial atrophic dermatoses with juvenile cataracts and endocrine features; a critical study with five new cases. S.J. Tannhauser. Reprinted from Annals of Internal Medicine, 23:559 (1945). (3909764)
1985
35
Heat-labile enzymes in circulating erythrocytes of a progeria family. (655163)
1978
36
Progeria: autopsy report of one case, with a review of pathologic findings reported in the literature. (1262674)
1976
37
Increased procoagulant activity in cultured fibroblasts from progeria and Werner's syndromes of premature ageing. (1264243)
1976
38
Study of a family with atypic progeria. (1186689)
1975
39
Hallermann-Streiff syndrome and progeria. (1162428)
1975
40
Progeria in twins. (4443987)
1974
41
Progeria--a follow up of 8 years. (4720052)
1973
42
Absence of detectable HL-A antigens on cultured fibroblasts in progeria. (4727457)
1973
43
Metabolic studies in two boys with classical progeria. (5763859)
1969
44
PROGERIA. (14186646)
1964
45
Progeria: audiologic aspects. (14478928)
1962
46
Progeria; report of a case. (13578348)
1958
47
Werner's syndrome (progeria in the adult). (13519584)
1957
48
Progeria: report of a case with post-mortem findings. (13165959)
1954
49
Progeria. (13062964)
1953
50
Werner's syndrome: progeria genito-dystrophicum. (13123745)
1953

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