HGPS
MCID: PRG004
MIFTS: 72

Progeria (HGPS) malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases categories
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Summaries for Progeria

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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 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 HGPS, is related to werner syndrome and atherosclerosis, and has symptoms including angor pectoris/myocardial infarction, abnormal cry/voice/phonation disorder/nasal speech and abnormal pigmentary skin changes/skin pigmentation anomalies. An important gene associated with Progeria is LMNA (lamin A/C), and among its related pathways are Apoptosis and survival Caspase cascade and Apoptotic cleavage of cellular proteins. The compounds thermolysin and benzene have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and bone, and related mouse phenotypes are pigmentation and respiratory system.

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:65 Progeria (pronunciation: /pro??d???ri?/) (Hutchinson?Gilford progeria syndrome,HGPS, progeria syndrome)... more...

Description from OMIM:47 176670

GeneReviews summary for hgps

Aliases & Classifications for Progeria

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8Disease Ontology, 9diseasecard, 65Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 58SNOMED-CT, 40NCIt, 35MeSH, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

progeria 8 65 43 21 10 45 49 62
hgps 8 65 19 43 21 49
hutchinson-gilford progeria syndrome 8 65 19 21 49
hutchinson gilford progeria syndrome 65 43 20 62
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
OMIM47 176670
NCIt40 C34951
MeSH35 D011371
ICD10 via Orphanet26 E34.8
SNOMED-CT via Orphanet59 238870004
UMLS via Orphanet63 C0033300
MESH via Orphanet36 D011371

Related Diseases for Progeria

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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 73)
idRelated DiseaseScoreTop Affiliating Genes
1werner syndrome30.8WRN, LMNA
2atherosclerosis30.2WRN, SOD2, LMNA, ELN
3mandibuloacral dysplasia30.2LMNA, ZMPSTE24
4lipodystrophy30.1ZMPSTE24, LMNB1, LMNA
5muscular dystrophy29.9LMNB1, LMNA
6ataxia telangiectasia29.8WRN, SOD2, XPA
7nestor-guillermo progeria syndrome10.4
8cockayne syndrome10.3
9scleroderma10.2
10skin disease10.2
11tight skin contracture syndrome, lethal10.1ZMPSTE24, LMNA
12congenital generalized lipodystrophy type 210.1ZMPSTE24, LMNA
13coloboma10.1
14cerebritis10.1
15xeroderma pigmentosum10.1
16aortic valve stenosis10.1
17cataract10.1
18hypertension10.1
19myopathy10.1
20osteosarcoma10.1
21retinitis10.1
22dwarfism10.1
23neonatal progeroid syndrome10.1
24progeria variant syndrome ruvalcaba type10.1
25insulin resistance10.1
26lmna-related cardiocutaneous progeria syndrome10.1
27progeria-associated arthropathy10.1
28emery-dreifuss muscular dystrophy10.0BANF1, LMNA
29developmental disabilities10.0ELN, LMNA
30coronary artery disease9.9
31dyskeratosis congenita9.9
32choanal atresia9.9
33neuronitis9.9
34phenylketonuria9.9
35microcephaly9.9
36osteoarthritis9.9
37hallermann-streiff syndrome9.9
38retinal vasculitis9.9
39hypoparathyroidism9.9
40calciphylaxis9.9
41vitiligo9.9
42pseudo-torch syndrome9.9
43adenocarcinoma9.9
44alopecia9.9
45artery disease9.9
46calcinosis9.9
47cerebrovascular disease9.9
48hyperglycemia9.9
49neuropathy9.9
50osteoporosis9.9

Graphical network of the top 20 diseases related to Progeria:



Diseases related to progeria

Symptoms for Progeria

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

176670

Clinical features from OMIM:

176670

Symptoms:

49 (show all 43)
  • 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
  • clavicle absent/abnormal
  • acrocyanosis/raynaud's phenomenon/vasomotor disorders
  • 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
  • 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:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Progeria

Search NIH Clinical Center for Progeria

Genetic Tests for Progeria

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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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33MalaCards
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MalaCards organs/tissues related to Progeria:

33
Skin, Heart, Bone, Eye, Smooth muscle, Skeletal muscle, T cells, Kidney

Animal Models for Progeria or affiliated genes

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37MGI
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Publications for Progeria

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52PubMed
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Articles related to Progeria:

(show top 50)    (show all 435)
idTitleAuthorsYear
1
New Lmna knock-in mice provide a molecular mechanism for the 'segmental aging' in Hutchinson-Gilford progeria syndrome. (24203701)
2013
2
Defective nuclear import of Tpr in Progeria reflects the Ran sensitivity of large cargo transport. (23649804)
2013
3
Hutchinson-gilford progeria syndrome: a rare genetic disorder. (24288630)
2013
4
A ceRNA analysis on LMNA gene focusing on the Hutchinson-Gilford progeria syndrome. (23317481)
2013
5
Leg ulcer in Werner syndrome (adult progeria): a case report. (23552003)
2013
6
An inherited LMNA gene mutation in atypical Progeria syndrome. (22991222)
2012
7
Rapamycin activates autophagy in Hutchinson-Gilford progeria syndrome: implications for normal aging and age-dependent neurodegenerative disorders. (22170152)
2012
8
Progeria: pathogenesis and oral manifestation--a review. (22971867)
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
Absence of progeria-like disease phenotypes in knock-in mice expressing a non-farnesylated version of progerin. (21088111)
2011
12
An accumulation of non-farnesylated prelamin A causes cardiomyopathy but not progeria. (20421363)
2010
13
Prelamin A prenylation and the treatment of progeria. (19965579)
2010
14
Effect of progerin on the accumulation of oxidized proteins in fibroblasts from Hutchinson Gilford progeria patients. (19958786)
2010
15
Progeria. (20139583)
2009
16
Increased mechanosensitivity and nuclear stiffness in Hutchinson-Gilford progeria cells: effects of farnesyltransferase inhibitors. (18331619)
2008
17
Model of human aging: recent findings on Werner's and Hutchinson-Gilford progeria syndromes. (18982914)
2008
18
Phenotype and course of Hutchinson-Gilford progeria syndrome. (18256394)
2008
19
Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. (18796515)
2008
20
Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin. (18442998)
2008
21
Involvement of xeroderma pigmentosum group A (XPA) in progeria arising from defective maturation of prelamin A. (17848622)
2008
22
Knockdown of mitochondrial heat shock protein 70 promotes progeria-like phenotypes in caenorhabditis elegans. (17189267)
2007
23
Distinct structural and mechanical properties of the nuclear lamina in Hutchinson-Gilford progeria syndrome. (16801550)
2006
24
Gene discovery speeds progeria research. (16493093)
2006
25
The truncated prelamin A in Hutchinson-Gilford progeria syndrome alters segregation of A-type and B-type lamin homopolymers. (16481358)
2006
26
A-type nuclear lamins, progerias and other degenerative disorders. (15722103)
2005
27
Prelamin A, Zmpste24, misshapen cell nuclei, and progeria--new evidence suggesting that protein farnesylation could be important for disease pathogenesis. (16207929)
2005
28
Hyaluronan is not elevated in urine or serum in Hutchinson-Gilford Progeria Syndrome. (12728312)
2003
29
Gene profile of replicative senescence is different from progeria or elderly donor. (11352641)
2001
30
Werner's syndrome (adult progeria): an affected mother and son presenting with resistant psychosis. (11704945)
2001
31
Progeria (Hutchinson-Gilford): a case report. (10380434)
1999
32
Hutchinson-Gilford progeria: faithful DNA maintenance, inheritance and allelic transcription of beta(1-4) galactosyltransferase. (9593312)
1998
33
Familial co-segregation of the elastin phenotype in skin fibroblasts from Hutchinson-Gilford progeria. (8246632)
1993
34
Report on a case of Hutchinson-Gilford progeria, with special reference to orthopedic problems. (1477072)
1992
35
Cell-cycle defect of DNA repair in progeria skin fibroblasts. (2615778)
1989
36
Progeria in two brothers. (3426482)
1987
37
Progeria: report of two cases and literature review. (3582231)
1986
38
A comparison of adult and childhood progerias: Werner syndrome and Hutchinson-Gilford progeria syndrome. (3909767)
1985
39
Cardiovascular abnormalities in progeria. Case report and review of the literature. (6894691)
1981
40
Progeria. (6176539)
1981
41
Progeria, a case report from Iran. (1272599)
1976
42
Letter: Progeria: a possible therapeutic approach. (4406015)
1974
43
Progeria (Hutchinson-Gilford). (4265458)
1973
44
Radiological findings in progeria. (5153663)
1971
45
EFFECT OF VITAMIN E AND METHYLTESTOSTERONE UPON THE PROGERIA-LIKE SYNDROME PRODUCED BY DIHYDROTACHYSTEROL. (14067448)
1963
46
Progeria; report of a case. (13578348)
1958
47
Ocular abnormalities in progeria. (13394266)
1956
48
Progeria: report of a case with post-mortem findings. (13165959)
1954
49
Progeria. (13062964)
1953
50
Progeria. (19986191)
1927

Variations for Progeria

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Progeria:

64
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

Clinvar genetic disease variations for Progeria:

1
id Gene Name Type Significance SNP ID Assembly Location
1LMNANM_170707.3(LMNA): c.1824C> T (p.Gly608=)single nucleotide variantPathogenicrs58596362GRCh37Chr 1, 156108404: 156108404
2LMNANM_170707.3(LMNA): c.1822G> A (p.Gly608Ser)single nucleotide variantPathogenicrs61064130GRCh37Chr 1, 156108402: 156108402
3LMNALMNA, IVS11, G-A, +1single nucleotide variantPathogenic
4LMNANM_170707.3(LMNA): c.1821G> A (p.Val607=)single nucleotide variantPathogenicrs59886214GRCh37Chr 1, 156108401: 156108401

Expression for genes affiliated with Progeria

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2BioGPS, 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:
50PathCards, 60Thomson Reuters, 55Reactome, 38NCBI BioSystems Database, 53QIAGEN, 30KEGG
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Pathways related to Progeria according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
FAS pathway and Stress induction of HSP regulation38
Apoptosis and survival FAS signaling cascades60
Caspase cascade in apoptosis38
9.8LMNB1, LMNA
2
Show member pathways
9.8LMNB1, LMNA
3
Show member pathways
9.8LMNA, LMNB1
4
Show member pathways
9.5BANF1, LMNB1, LMNA
5
Show member pathways
9.5BANF1, LMNB1, LMNA
6
Show member pathways
9.5LMNA, LMNB1, BANF1
7
Show member pathways
9.5LMNA, LMNB1, BANF1
8
Show member pathways
Proteasome Degradation38
Immune response Antigen presentation by MHC class I60
9.2UBA7, LMNB1, LMNA

Compounds for genes affiliated with Progeria

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45Novoseek, 24HMDB, 11DrugBank, 51PharmGKB, 61Tocris Bioscience, 29IUPHAR
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Compounds related to Progeria according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1thermolysin4510.0ZMPSTE24, ELN
2benzene459.9ELN, WRN
38-oxoguanine459.8WRN, SOD2
4hydroquinone45 2410.8SOD2, WRN
5procollagen459.7ZMPSTE24, ELN
6betacarotene459.6SOD2, ELN
7guanidine hydrochloride459.5ELN, SOD2
8bleomycin45 1110.4WRN, SOD2, ELN
9arginine459.0WRN, SOD2, LMNA, ELN
10zinc45 2410.0SOD2, LMNA, ZMPSTE24, XPA
11cisplatin45 51 61 1111.9WRN, SOD2, XPA
12creatinine458.9ELN, LMNA, SOD2
13atp45 299.8XPA, LMNA, SOD2, WRN
14alanine458.8SOD2, LMNA, ELN, XPA
15cysteine457.9UBA7, XPA, ELN, LMNB1, SOD2, WRN

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 inner membraneGO:0056379.8ZMPSTE24, LMNB1
2lamin filamentGO:0056389.7LMNB1, LMNA
3nucleoplasmGO:0056548.2BANF1, XPA, LMNB1, LMNA, WRN

Biological processes related to Progeria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitotic nuclear envelope reassemblyGO:0070849.8BANF1, LMNA
2mitotic nuclear envelope disassemblyGO:0070779.7BANF1, LMNA
3cellular component disassembly involved in execution phase of apoptosisGO:0069219.5LMNB1, LMNA
4intrinsic apoptotic signaling pathway in response to DNA damageGO:0086309.4XPA, SOD2

Molecular functions related to Progeria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1manganese ion bindingGO:0301459.5SOD2, WRN

Products for genes affiliated with Progeria

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Progeria

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet