HGPS
MCID: PRG004
MIFTS: 73

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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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 based summary: Progeria, also known as HGPS, is related to werner syndrome and mandibuloacral dysplasia, and has symptoms including skull/cranial anomalies, narrow face and proptosis/exophthalmos. 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, eye and heart, 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:46 176670

GeneReviews summary for hgps

Aliases & Classifications for Progeria

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Sources:
8Disease Ontology, 9diseasecard, 65Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 39NCIt, 57SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Progeria, Aliases & Descriptions:

Name: Progeria 8 65 42 21 10 44 48 62
Hgps 8 65 19 42 21 48
Hutchinson-Gilford Progeria Syndrome 8 65 19 21 48
Hutchinson Gilford Progeria Syndrome 65 42 20 62
Hutchinson Gilford Syndrome 8 19 42 22
 
Hutchinson-Gilford Syndrome 8 21 62
Hutchinson-Gilford Progeria 9 46
Hutchinson-Gilford Disease 8 62
Progeria of Childhood 21
Progeria Syndrome 8


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:3911
NCIt39 C34951
MeSH34 D011371
OMIM46 176670
MESH via Orphanet35 D011371
ICD10 via Orphanet26 E34.8
UMLS via Orphanet63 C0033300

Related Diseases for Progeria

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

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1werner syndrome31.0LMNA, WRN
2mandibuloacral dysplasia30.9ZMPSTE24, LMNA
3muscular dystrophy30.4LMNB1, LMNA
4lipodystrophy30.3ZMPSTE24, LMNA, LMNB1
5atherosclerosis30.0WRN, SOD2, ELN, LMNA
6ataxia telangiectasia29.8XPA, SOD2, WRN
7nestor-guillermo progeria syndrome10.5
8cockayne syndrome10.3
9tight skin contracture syndrome, lethal10.3LMNA, ZMPSTE24
10congenital generalized lipodystrophy type 210.3LMNA, ZMPSTE24
11scleroderma10.3
12emery-dreifuss muscular dystrophy10.2BANF1, LMNA
13skin disease10.2
14pyridoxine-refractory autosomal recessive sideroblastic anemia10.2WRN, LMNA
15cataract10.1
16hypertension10.1
17xeroderma pigmentosum10.1
18coloboma10.1
19cerebritis10.1
20aortic valve stenosis10.1
21myopathy10.1
22osteosarcoma10.1
23retinitis10.1
24dwarfism10.1
25neonatal progeroid syndrome10.1
26progeria variant syndrome ruvalcaba type10.1
27insulin resistance10.1
28lmna-related cardiocutaneous progeria syndrome10.1
29progeria-associated arthropathy10.1
30developmental disabilities10.0ELN, LMNA
31alopecia9.9
32glomerulonephritis9.9
33osteoarthritis9.9
34osteoporosis9.9
35phenylketonuria9.9
36pulmonary hypertension9.9
37schizophrenia9.9
38vitiligo9.9
39dyskeratosis congenita9.9
40choanal atresia9.9
41hallermann-streiff syndrome9.9
42calciphylaxis9.9
43pseudo-torch syndrome9.9
44neuronitis9.9
45microcephaly9.9
46retinal vasculitis9.9
47hypoparathyroidism9.9
48adenocarcinoma9.9
49artery disease9.9
50calcinosis9.9

Graphical network of the top 20 diseases related to Progeria:



Diseases related to progeria

Symptoms for Progeria

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Symptoms by clinical synopsis from OMIM:

176670

Clinical features from OMIM:

176670

Symptoms:

48 (show all 43)
  • skull/cranial anomalies
  • narrow face
  • proptosis/exophthalmos
  • micrognathia/retrognathia/micrognathism/retrognathism
  • anodontia/oligodontia/hypodontia
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • terminal/third phalangeal bone of fingers hypoplasia
  • thin skin
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • decreased body hair/axillar/pubic hairlessness
  • alopecia
  • thin/hypoplastic/hyperconvex fingernails
  • thin/hypoplastic toenails
  • late puberty/hypogonadism/hypogenitalism
  • abnormal fat distribution/lipodystrophy
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • early death/lethality
  • premature ageing
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • asthenia/fatigue/weakness
  • large fontanelle/delayed fontanelle closure
  • anomalies of eyelids, eyelashes and lacrimal system
  • beaked nose
  • thin/retracted lips
  • anomalies of teeth and dentition
  • external ear anomalies
  • clavicle absent/abnormal
  • global upper and lower limbs anomalies
  • rippled skin
  • tight skin/lack of elasticity
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • abnormal cry/voice/phonation disorder/nasal speech
  • angor pectoris/myocardial infarction
  • 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

HPO human phenotypes related to Progeria:

(show all 45)
id Description Frequency HPO Source Accession
1 abnormality of the genital system hallmark (90%) HP:0000078
2 narrow face hallmark (90%) HP:0000275
3 micrognathia hallmark (90%) HP:0000347
4 proptosis hallmark (90%) HP:0000520
5 delayed eruption of teeth hallmark (90%) HP:0000684
6 thin skin hallmark (90%) HP:0000963
7 abnormality of the fingernails hallmark (90%) HP:0001231
8 alopecia hallmark (90%) HP:0001596
9 hypoplastic toenails hallmark (90%) HP:0001800
10 weight loss hallmark (90%) HP:0001824
11 short stature hallmark (90%) HP:0004322
12 prematurely aged appearance hallmark (90%) HP:0007495
13 abnormality of adipose tissue hallmark (90%) HP:0009124
14 reduced number of teeth hallmark (90%) HP:0009804
15 short distal phalanx of finger hallmark (90%) HP:0009882
16 thin vermilion border typical (50%) HP:0000233
17 abnormality of the fontanelles or cranial sutures typical (50%) HP:0000235
18 convex nasal ridge typical (50%) HP:0000444
19 abnormality of the clavicles typical (50%) HP:0000889
20 abnormality of skin pigmentation typical (50%) HP:0001000
21 acrocyanosis typical (50%) HP:0001063
22 gait disturbance typical (50%) HP:0001288
23 abnormality of the voice typical (50%) HP:0001608
24 coronary artery disease typical (50%) HP:0001677
25 osteolysis typical (50%) HP:0002797
26 abnormality of the hip bone typical (50%) HP:0003272
27 reduced bone mineral density typical (50%) HP:0004349
28 external ear malformation typical (50%) HP:0008572
29 lack of skin elasticity typical (50%) HP:0100679
30 skeletal dysplasia occasional (7.5%) HP:0002652
31 arthralgia occasional (7.5%) HP:0002829
32 nephrosclerosis occasional (7.5%) HP:0009741
33 autosomal dominant inheritance HP:0000006
34 malar flattening HP:0000272
35 micrognathia HP:0000347
36 growth delay HP:0001510
37 alopecia HP:0001596
38 congestive heart failure HP:0001635
39 myocardial infarction HP:0001658
40 angina pectoris HP:0001681
41 precocious atherosclerosis HP:0004416
42 premature coronary artery disease HP:0005181
43 generalized osteoporosis with pathologic fractures HP:0005744
44 absence of subcutaneous fat HP:0007485
45 midface retrusion HP:0011800

Drugs & Therapeutics for Progeria

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Drug clinical trials:

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Search NIH Clinical Center for Progeria

Genetic Tests for Progeria

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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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MalaCards organs/tissues related to Progeria:

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

Animal Models for Progeria or affiliated genes

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Publications for Progeria

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Articles related to Progeria:

(show top 50)    (show all 459)
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
Defective extracellular pyrophosphate metabolism promotes vascular calcification in a mouse model of Hutchinson-Gilford progeria syndrome that is ameliorated on pyrophosphate treatment. (23690466)
2013
5
A ceRNA analysis on LMNA gene focusing on the Hutchinson-Gilford progeria syndrome. (23317481)
2013
6
Leg ulcer in Werner syndrome (adult progeria): a case report. (23552003)
2013
7
An inherited LMNA gene mutation in atypical Progeria syndrome. (22991222)
2012
8
Rapamycin activates autophagy in Hutchinson-Gilford progeria syndrome: implications for normal aging and age-dependent neurodegenerative disorders. (22170152)
2012
9
Progeria: pathogenesis and oral manifestation--a review. (22971867)
2012
10
Do you know this syndrome? Huntchinson-Gilford Syndrome (Progeria). (21437546)
2011
11
In vitro pathological modelling using patient-specific induced pluripotent stem cells: the case of progeria. (22103524)
2011
12
Absence of progeria-like disease phenotypes in knock-in mice expressing a non-farnesylated version of progerin. (21088111)
2011
13
An accumulation of non-farnesylated prelamin A causes cardiomyopathy but not progeria. (20421363)
2010
14
Prelamin A prenylation and the treatment of progeria. (19965579)
2010
15
Effect of progerin on the accumulation of oxidized proteins in fibroblasts from Hutchinson Gilford progeria patients. (19958786)
2010
16
Progeria. (20139583)
2009
17
Increased mechanosensitivity and nuclear stiffness in Hutchinson-Gilford progeria cells: effects of farnesyltransferase inhibitors. (18331619)
2008
18
Model of human aging: recent findings on Werner's and Hutchinson-Gilford progeria syndromes. (18982914)
2008
19
Phenotype and course of Hutchinson-Gilford progeria syndrome. (18256394)
2008
20
Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. (18796515)
2008
21
Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin. (18442998)
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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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:

6
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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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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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 regulation37
Apoptosis and survival FAS signaling cascades60
Caspase cascade in apoptosis37
9.8LMNA, LMNB1
2
Show member pathways
9.8LMNA, LMNB1
3
Show member pathways
9.8LMNA, LMNB1
4
Show member pathways
9.5BANF1, LMNB1, LMNA
5
Show member pathways
9.5LMNA, BANF1, LMNB1
6
Show member pathways
9.5LMNA, BANF1, LMNB1
7
Show member pathways
9.5LMNA, LMNB1, BANF1
8
Show member pathways
Proteasome Degradation37
Immune response Antigen presentation by MHC class I60
9.2UBA7, LMNB1, LMNA

Compounds for genes affiliated with Progeria

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Compounds related to Progeria according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1thermolysin4410.0ELN, ZMPSTE24
2benzene449.8ELN, WRN
38-oxoguanine449.8SOD2, WRN
4hydroquinone44 2410.8WRN, SOD2
5procollagen449.7ELN, ZMPSTE24
6betacarotene449.6SOD2, ELN
7guanidine hydrochloride449.5SOD2, ELN
8bleomycin44 1110.4ELN, WRN, SOD2
9arginine449.0ELN, WRN, LMNA, SOD2
10zinc44 2410.0SOD2, LMNA, ZMPSTE24, XPA
11cisplatin44 50 61 1111.9WRN, XPA, SOD2
12creatinine448.9LMNA, SOD2, ELN
13atp44 289.8WRN, SOD2, XPA, LMNA
14alanine448.8SOD2, XPA, ELN, LMNA
15cysteine447.9XPA, WRN, SOD2, LMNB1, ELN, UBA7

GO Terms for genes affiliated with Progeria

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet