MCID: PRG004
MIFTS: 61

Progeria malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases categories

Summaries for Progeria

About this section


NIH Rare Diseases:41 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 hutchinson-gilford progeria syndrome, is related to werner syndrome and mandibuloacral dysplasia, and has symptoms including abnormality of the genital system, narrow face and micrognathia. 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 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:63 Progeria (pronunciation: /pro??d???ri?/) (Hutchinson?Gilford progeria syndrome,HGPS, progeria syndrome)... more...

GeneReviews summary for hgps

Aliases & Classifications for Progeria

About this section
Sources:
9Disease Ontology, 63Wikipedia, 41NIH Rare Diseases, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 19GeneReviews, 22GTR, 20GeneTests, 55SNOMED-CT, 38NCIt, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Progeria, Aliases & Descriptions:

Name: Progeria 9 63 41 21 11 43 47 60
Hutchinson-Gilford Progeria Syndrome 9 63 19 41 21 47
Hgps 9 63 41 21 47
Hutchinson Gilford Progeria Syndrome 63 41 20
Hutchinson-Gilford Syndrome 9 21 22
 
Hutchinson Gilford Syndrome 9 41
Hutchinson-Gilford Disease 9
Progeria of Childhood 21
Progeria Syndrome 9


Classifications:



Characteristics (Orphanet epidemiological data):

47
progeria:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Disease Ontology9 DOID:3911
NCIt38 C34951
MeSH33 D011371
Orphanet47 740
MESH via Orphanet34 D011371
ICD10 via Orphanet26 E34.8
UMLS via Orphanet61 C0033300

Related Diseases for Progeria

About this section

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

(show top 50)    (show all 69)
idRelated DiseaseScoreTop Affiliating Genes
1werner syndrome31.0WRN, LMNA
2mandibuloacral dysplasia30.9LMNA, ZMPSTE24
3muscular dystrophy30.4LMNB1, LMNA
4lipodystrophy30.3ZMPSTE24, LMNB1, LMNA
5atherosclerosis30.0WRN, SOD2, LMNA, ELN
6ataxia-telangiectasia29.8WRN, SOD2, XPA
7hutchinson-gilford progeria11.1
8nestor-guillermo progeria syndrome10.5
9cockayne syndrome10.3
10restrictive dermopathy, lethal10.3ZMPSTE24, LMNA
11scleroderma10.3
12berardinelli-seip congenital lipodystrophy10.3ZMPSTE24, LMNA
13emery-dreifuss muscular dystrophy10.2BANF1, LMNA
14skin disease10.2
15progeria variant syndrome ruvalcaba type10.2
16lmna-related cardiocutaneous progeria syndrome10.2
17progeria-associated arthropathy10.2
18anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.1WRN, LMNA
19cataract10.1
20coloboma10.1
21cerebritis10.1
22myopathy10.1
23retinitis10.1
24dwarfism10.1
25neonatal progeroid syndrome10.1
26developmental disabilities10.0ELN, LMNA
27schizophrenia9.9
28osteoporosis9.9
29cutis laxa, autosomal recessive, type iiia9.9
30phenylketonuria9.9
31trichothiodystrophy9.9
32coronary artery disease9.9
33xeroderma pigmentosum, group a9.9
34pulmonary hypertension9.9
35alopecia9.9
36glomerulonephritis9.9
37osteoarthritis9.9
38dyskeratosis congenita9.9
39choanal atresia9.9
40neuronitis9.9
41microcephaly9.9
42retinal vasculitis9.9
43hallermann-streiff syndrome9.9
44hypoparathyroidism9.9
45calciphylaxis9.9
46adenocarcinoma9.9
47artery disease9.9
48atrial fibrillation9.9
49atrioventricular block9.9
50calcinosis9.9

Graphical network of the top 20 diseases related to Progeria:



Diseases related to progeria

Symptoms for Progeria

About this section

Symptoms:

 47 (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 32)
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

Drugs & Therapeutics for Progeria

About this section

Drug clinical trials:

Search ClinicalTrials for Progeria

Search NIH Clinical Center for Progeria

Genetic Tests for Progeria

About this section

Genetic tests related to Progeria:

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

Anatomical Context for Progeria

About this section

MalaCards organs/tissues related to Progeria:

31
Skin, Eye, Bone, Heart, Smooth muscle, Skeletal muscle, Kidney, Liver, T cells

Animal Models for Progeria or affiliated genes

About this section

Publications for Progeria

About this section

Articles related to Progeria:

(show top 50)    (show all 467)
idTitleAuthorsYear
1
Hutchinson-Gilford Progeria Syndrome Caused by an LMNA Mutation: A Case Report. (25556323)
2015
2
New Lmna knock-in mice provide a molecular mechanism for the 'segmental aging' in Hutchinson-Gilford progeria syndrome. (24203701)
2013
3
Defective nuclear import of Tpr in Progeria reflects the Ran sensitivity of large cargo transport. (23649804)
2013
4
Hutchinson-gilford progeria syndrome: a rare genetic disorder. (24288630)
2013
5
Defective extracellular pyrophosphate metabolism promotes vascular calcification in a mouse model of Hutchinson-Gilford progeria syndrome that is ameliorated on pyrophosphate treatment. (23690466)
2013
6
A ceRNA analysis on LMNA gene focusing on the Hutchinson-Gilford progeria syndrome. (23317481)
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

About this section

Clinvar genetic disease variations for Progeria:

6
id Gene Variation 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

About this section
Search GEO for disease gene expression data for Progeria.

Pathways for genes affiliated with Progeria

About this section

Pathways related to Progeria according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
FAS pathway and Stress induction of HSP regulation36
Apoptosis and survival FAS signaling cascades58
Caspase cascade in apoptosis36
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 Degradation36
Immune response Antigen presentation by MHC class I58
9.2UBA7, LMNB1, LMNA

Compounds for genes affiliated with Progeria

About this section

Compounds related to Progeria according to GeneCards Suite gene sharing:

(show all 15)
idCompoundScoreTop Affiliating Genes
1thermolysin4310.0ZMPSTE24, ELN
2benzene439.9ELN, WRN
38-oxoguanine439.8WRN, SOD2
4hydroquinone43 2410.8SOD2, WRN
5procollagen439.7ZMPSTE24, ELN
6betacarotene439.6SOD2, ELN
7guanidine hydrochloride439.5ELN, SOD2
8bleomycin43 1210.4WRN, SOD2, ELN
9arginine439.0WRN, SOD2, LMNA, ELN
10zinc43 2410.0SOD2, LMNA, ZMPSTE24, XPA
11cisplatin43 49 59 1211.9WRN, SOD2, XPA
12creatinine438.9ELN, LMNA, SOD2
13atp43 289.8XPA, LMNA, SOD2, WRN
14alanine438.8SOD2, LMNA, ELN, XPA
15cysteine437.9UBA7, XPA, ELN, LMNB1, SOD2, WRN

GO Terms for genes affiliated with Progeria

About this section

Cellular components related to Progeria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear inner membraneGO:00056379.8ZMPSTE24, LMNB1
2lamin filamentGO:00056389.7LMNB1, LMNA
3nucleoplasmGO:00056548.2BANF1, XPA, LMNB1, LMNA, WRN

Biological processes related to Progeria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitotic nuclear envelope reassemblyGO:00070849.8BANF1, LMNA
2mitotic nuclear envelope disassemblyGO:00070779.7BANF1, LMNA
3cellular component disassembly involved in execution phase of apoptosisGO:00069219.5LMNB1, LMNA
4intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.4XPA, SOD2

Molecular functions related to Progeria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1manganese ion bindingGO:00301459.5SOD2, WRN

Products for genes affiliated with Progeria

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Progeria

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet