HGPS
MCID: PRG004
MIFTS: 68

Progeria (HGPS) malady

Eye, Bone, Skin, Fetal categories

Summaries for Progeria

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 failure to thrive/difficulties for feeding in infancy/growth delay, abnormal gait and osteoporosis/osteopenia/demineralisation/osteomalacia/rickets. An important gene associated with Progeria is LMNA (lamin A/C), and among its related pathways are Breakdown of the nuclear lamina and Initiation of Nuclear Envelope Reformation. The compounds 8-hydroxyadenine and 8-hydroxyguanine have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and kidney, 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:64 Progeria (pronunciation: /proʊˈdʒɪəriə/) (Hutchinson-Gilford Progeria Syndrome,HGPS, Progeria... more...

Description from OMIM:47 176670

GeneReviews summary for hgps

Aliases & Classifications for Progeria

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 40NCIt, 57SNOMED-CT, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
progeria:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

progeria 8 64 43 21 10 45 49 61
hutchinson-gilford progeria syndrome 8 64 19 21 49
hgps 8 64 19 43 21
hutchinson gilford progeria syndrome 64 43 20 61
hutchinson gilford syndrome 8 19 43
hutchinson-gilford syndrome 8 22 21
hutchinson-gilford progeria 9 47
hutchinson-gilford disease 8
progeria of childhood 21
progeria syndrome 8


External Ids:

Disease Ontology8 DOID:3911
MeSH35 D011371
OMIM47 176670
NCIt40 C34951
ICD10 via Orphanet26 E34.8
SNOMED-CT via Orphanet58 238870004
UMLS via Orphanet62 C0033300
MESH via Orphanet36 D011371

Related Diseases for Progeria

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 82)
idRelated DiseaseScoreTop Affiliating Genes
1werner syndrome31.0HELLS, LMNA, WRN
2atherosclerosis30.2LMNA, ELN, GGT1, SOD2, WRN
3mandibuloacral dysplasia30.1ZMPSTE24, LMNA
4adenocarcinoma29.8GGT1, SOD2, ELN
5n syndrome10.6
6adult syndrome10.5
7nestor-guillermo progeria syndrome10.4
8cockayne syndrome10.3
9char syndrome10.2
10progeria - short stature - pigmented nevi10.1
11coloboma10.0
12xeroderma pigmentosum10.0
13aortic valve stenosis10.0
14dwarfism10.0
15neonatal progeroid syndrome10.0
16progeria variant syndrome ruvalcaba type10.0
17insulin resistance10.0
18lmna-related cardiocutaneous progeria syndrome10.0
19progeria-associated arthropathy10.0
20epidermodysplasia verruciformis10.0TAF7
21tight skin contracture syndrome, lethal10.0ZMPSTE24, LMNA
22emery-dreifuss muscular dystrophy 2, ad10.0LMNA, EMD
23familial partial lipodystrophy10.0LMNA, EMD
24emery-dreifuss muscular dystrophy10.0LMNA, EMD
25congenital generalized lipodystrophy type 210.0LMNA, ZMPSTE24
26chronic progressive external ophthalmoplegia10.0SOD2, HELLS
27herpes simplex10.0SOD2, HELLS
28muscular dystrophy10.0LMNA, EMD, LMNB1
29lipodystrophy10.0ZMPSTE24, LMNB1, EMD, LMNA
30hyperhomocysteinemia10.0ELN
31leukemia10.0LMNB1, BANF1, HELLS
32rothmund-thomson syndrome10.0WRN, HELLS
33cataract10.0WRN
34congenital heart defect10.0SOD2, LMNA, EMD
35neuropathy10.0LMNA, EMD, SOD2
36coronary artery disease,9.9
37carotid stenosis9.9
38dyskeratosis congenita9.9
39mitral valve stenosis9.9
40ataxia telangiectasia9.9
41hypoparathyroidism9.9
42calciphylaxis9.9
43osteoarthritis9.9
44microcephaly9.9
45phenylketonuria9.9
46pseudo-torch syndrome9.9
47conn's syndrome9.9
48down syndrome9.9
49arc syndrome9.9
50vitiligo9.9

Graphical network of the top 20 diseases related to Progeria:



Diseases related to progeria

Clinical Features for Progeria

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

176670

Clinical synopsis from OMIM:

176670

Symptoms:

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

Drugs & Therapeutics for Progeria

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Progeria:

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

Anatomical Context for Progeria

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Progeria:

33
Skin, Liver, Kidney, Heart, Smooth muscle, Skeletal muscle, T cells, B cells, Fetal liver

Animal Models for Progeria or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Progeria

Sources:
51PubMed
See all sources

Articles related to Progeria:

(show top 50)    (show all 441)
idTitleAuthorsYear
1
Moving from gene discovery to clinical trials in Hutchinson-Gilford progeria syndrome. (23897868)
2013
2
LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset. (23666920)
2013
3
Replication factor C1, the large subunit of replication factor C, is proteolytically truncated in Hutchinson-Gilford progeria syndrome. (22168243)
2012
4
Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome. (23012407)
2012
5
Expression of the Hutchinson-Gilford progeria mutation during osteoblast development results in loss of osteocytes, irregular mineralization, and poor biomechanical properties. (22893709)
2012
6
Hypoparathyroidism in an Egyptian child with Hutchinson-Gilford progeria syndrome: a case report. (22251708)
2012
7
NAcstor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations. (21932319)
2011
8
Pancreatic Adenocarcinoma Associated With Werner's Syndrome (Adult-Onset Progeria). (21464868)
2011
9
Blocking protein farnesylation improves nuclear shape abnormalities in keratinocytes of mice expressing the prelamin A variant in Hutchinson-Gilford progeria syndrome. (21326826)
2010
10
Progeria. (20139583)
2009
11
Genomic instability and DNA damage responses in progeria arising from defective maturation of prelamin A. (19851476)
2009
12
Hutchinson-Gilford progeria syndrome: clinical and genetical traits. (19776715)
2009
13
Different prelamin A forms accumulate in human fibroblasts: a study in experimental models and progeria. (19351612)
2009
14
Increased expression of the Hutchinson-Gilford progeria syndrome truncated lamin A transcript during cell aging. (19172989)
2009
15
Involvement of xeroderma pigmentosum group A (XPA) in progeria arising from defective maturation of prelamin A. (17848622)
2008
16
A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse model. (18838683)
2008
17
The mutant form of lamin A that causes Hutchinson-Gilford progeria is a biomarker of cellular aging in human skin. (18060063)
2007
18
Gene discovery speeds progeria research. (16493093)
2006
19
Hutchinson-Gilford progeria in the light of contemporary genetics]. (17028399)
2006
20
Prelamin A, Zmpste24, misshapen cell nuclei, and progeria--new evidence suggesting that protein farnesylation could be important for disease pathogenesis. (16207929)
2005
21
Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome. (16129833)
2005
22
Inhibiting farnesylation reverses the nuclear morphology defect in a HeLa cell model for Hutchinson-Gilford progeria syndrome. (16186497)
2005
23
Aging of Hutchinson-Gilford progeria syndrome fibroblasts is characterised by hyperproliferation and increased apoptosis. (15130666)
2004
24
Genome-scale expression profiling of Hutchinson-Gilford progeria syndrome reveals widespread transcriptional misregulation leading to mesodermal/mesenchymal defects and accelerated atherosclerosis. (15268757)
2004
25
PRELP, collagen, and a theory of Hutchinson-Gilford progeria. (12437997)
2003
26
Oral and maxillofacial surgical considerations for a case of Hutchinson-Gilford progeria. (12452985)
2002
27
Del(1)(q23) in a patient with Hutchinson-Gilford progeria. (12439901)
2002
28
Hutchinson-Guilford progeria syndrome. (11320273)
2001
29
A novel b(1-4)galactosyltransferase gene silent mutation (594C&gt;T) associated with Hutchinson-Gilford progeria. (11295846)
2001
30
Diagnosis of progeria syndrome is the only one possible (10594889)
1999
31
Can Hutchinson-Gilford progeria syndrome be a neonatal condition? (10594888)
1999
32
Report on a case of Hutchinson-Gilford progeria, with special reference to orthopedic problems. (1477072)
1992
33
Immunological aspects of progeria (Hutchinson-Gilford syndrome) in a 15-month-old child. (2079076)
1990
34
Altered regulation of platelet-derived growth factor A-chain and c-fos gene expression in senescent progeria fibroblasts. (2166059)
1990
35
Fertility in a case of progeria. (2735343)
1989
36
Progeria: report of two cases and literature review. (3582231)
1986
37
Molecular basis of the accumulation of abnormal proteins in progeria and aging fibroblasts. (4062822)
1985
38
Cardiovascular abnormalities in progeria. Case report and review of the literature. (6894691)
1981
39
Detection of HLA antigens on progeria syndrome fibroblasts. (6988117)
1980
40
Progeria: a cell culture study and clinical report of familial incidence. (319005)
1977
41
Progeria. Case report with long-term studies of serum lipids. (5506943)
1970
42
An unusual case of progeria-like dwarfism with bilateral macular coloboma. (5490625)
1970
43
PROGERIA IN THE ADULT. (14254284)
1965
44
Progeria with unusual ocular manifestations: report of a case with a review of the literature. (5825824)
1965
45
Cardiovascular manifestations in progeria. Report of clinical and pathologic findings in a patient with severe arteriosclerotic heart disease and aortic stenosis. (14468738)
1962
46
Werner's syndrome (progeria of the adult); further pathological and biochemical observations. (13803556)
1959
47
Amino-aciduria and hypermetabolism in progeria. (13479144)
1957
48
Progeria; review of the literature with report of a case. (13139804)
1954
49
Two brothers with infantilism, showing some features of progeria, associated with microcephaly, retinal degeneration and intracranial calcification. (18864720)
1948
50
Progeria with nanism and congenital cataracts in a five year old child. (21001611)
1946

Genetic Variations for Progeria

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Progeria:

63
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 12EMD Millipore, 52QIAGEN, 30KEGG, 38NCBI BioSystems Database
See all sources

Pathways related to Progeria according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Progeria

Sources:
45Novoseek, 11DrugBank
See all sources

Compounds related to Progeria according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
18-hydroxyadenine4510.5WRN, HELLS
28-hydroxyguanine4510.5HELLS, SOD2
38-oxoguanine4510.5HELLS, SOD2, WRN
4tripeptide4510.4ZMPSTE24, GGT1, RCE1
5lutein4510.3SOD2, GGT1
6betacarotene4510.3ELN, SOD2, GGT1
7bleomycin45 1111.3ELN, WRN, SOD2
8arginine4510.1ELN, NLRP12, HELLS, SOD2, WRN, PRELP
9cysteine4510.1NLRP12, HELLS, SOD2, WRN, RCE1, LMNB1
10thermolysin4510.1ZMPSTE24, ELN
11h2o24510.0HELLS, SOD2, ELN, WRN, GGT1

GO Terms for genes affiliated with Progeria

Sources:
16Gene Ontology
See all sources

Cellular components related to Progeria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear envelopeGO:00563510.3EMD, LMNA, LMNB1
2nuclear inner membraneGO:00563710.3LMNB1, ZMPSTE24, EMD
3transcription factor TFTC complexGO:03327610.2TAF5, TAF6, TAF7, TAF10
4transcription factor TFIID complexGO:00566910.1TAF10, TAF6, TAF7, TAF5
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:07158610.4RCE1, ZMPSTE24
2mitotic nuclear envelope reassemblyGO:00708410.4BANF1, EMD, LMNA
3mitotic nuclear envelope disassemblyGO:00707710.3BANF1, LMNA, EMD
4DNA-dependent transcription, initiationGO:00635210.3TAF6, TAF7, TAF10, TAF5
5transcription initiation from RNA polymerase II promoterGO:00636710.1TAF7, TAF10, TAF5, TAF6
6transcription from RNA polymerase II promoterGO:00636610.1TAF7, TAF10, TAF6, TAF5
7transcription elongation from RNA polymerase II promoterGO:00636810.1TAF10, TAF5, TAF6
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Progeria

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet