MCID: PRG004
MIFTS: 60

Progeria malady

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

Aliases & Classifications for Progeria

About this section
Sources:
10Disease Ontology, 68Wikipedia, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 65UMLS, 36MeSH, 21GeneReviews, 22GeneTests, 24GTR, 59SNOMED-CT, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Progeria:

Name: Progeria 10 68 45 23 47 12 51 65 36
Hgps 10 68 45 22 23 51
Hutchinson-Gilford Progeria Syndrome 10 68 21 23 51
Hutchinson Gilford Progeria Syndrome 68 45 22
Hutchinson-Gilford Disease 10 22 24
 
Hutchinson Gilford Syndrome 10 45
Hutchinson-Gilford Syndrome 10 23
Progeria of Childhood 23
Progeria Syndrome 10


Classifications:



Characteristics (Orphanet epidemiological data):

51
progeria:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Disease Ontology10 DOID:3911
MeSH36 D011371
NCIt42 C34951
Orphanet51 740
ICD10 via Orphanet28 E34.8
MESH via Orphanet37 D011371
UMLS via Orphanet66 C0033300

Summaries for Progeria

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NIH Rare Diseases:45 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 13-14; 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: 10/28/2015

MalaCards based summary: Progeria, also known as hgps, is related to hutchinson-gilford progeria 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 Initiation of Nuclear Envelope Reformation and Platinum Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include skin, eye and heart, and related mouse phenotypes are liver/biliary system and adipose tissue.

Genetics Home Reference:23 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:68 Progeria (pronunciation: /proʊˈdʒɪəriə/) (Hutchinson–Gilford progeria syndrome,HGPS, progeria... more...

GeneReviews summary for hgps

Related Diseases for Progeria

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

(show top 50)    (show all 130)
idRelated DiseaseScoreTop Affiliating Genes
1hutchinson-gilford progeria31.6LMNA, LMNB1, PRELP, WRN, ZMPSTE24
2mandibuloacral dysplasia30.7BANF1, LMNA, ZMPSTE24
3xeroderma pigmentosum, group a29.9ERCC4, XPA
4nestor-guillermo progeria syndrome10.5
5werner syndrome10.5
6cockayne syndrome10.3
7child syndrome10.3
8atherosclerosis10.3
9kid syndrome10.3
10restrictive dermopathy, lethal10.3LMNA, ZMPSTE24
11scleroderma10.3
12auditory neuropathy10.2LMNA, WRN
13marchiafava bignami disease10.2
14progeroid laminopathies10.2
15hereditary sensory and autonomic neuropathy with spastic paraplegia10.2BANF1, LMNA, ZMPSTE24
16emery-dreifuss muscular dystrophy 2, ad10.2LMNA, SYNE2
17reynolds syndrome10.2LMNA, LMNB1, ZMPSTE24
18ovarian disease10.2LMNA, ZMPSTE24
19farber lipogranulomatosis10.2
20alopecia10.2
21blood protein disease10.2
22bone structure disease10.2
23lipid metabolism disorder10.2
24lipodystrophy10.2
25vascular disease10.2
26progeria variant syndrome ruvalcaba type10.2
27progeria - short stature - pigmented nevi10.2
28lmna-related cardiocutaneous progeria syndrome10.2
29progeria-associated arthropathy10.2
30xfe progeroid syndrome10.1ERCC1, ERCC4
31anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.1
32coronary heart disease 510.1
33coronary heart disease 410.1
34alopecia areata 210.1
35cataract10.1
36good syndrome10.1
37coloboma10.1
38metabolic syndrome x10.1
39cerebritis10.1
40alopecia areata10.1
41congenital heart disease10.1
42hair disease10.1
43leukocyte disease10.1
44mineral metabolism disease10.1
45muscular dystrophy10.1
46myopathy10.1
47retinitis10.1
48dwarfism10.1
49wells syndrome10.1
50cardiomyopathy10.1

Graphical network of the top 20 diseases related to Progeria:



Diseases related to progeria

Symptoms for Progeria

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Symptoms:

 51 (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

Drugs & Therapeutics for Progeria

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Drugs for Progeria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PravastatinapprovedPhase 214281093-37-054687
Synonyms:
(+)-(3R,5R)-3,5-Dihydroxy-7-[(1S,2S,6S,8S,8ar)-6-hydroxy-2-methyl-8-{[(S)-2-methylbutyryl]oxy}-1,2,6,7,8,8a-hexahydro-1-naphthyl]heptanoic acid
(3R,5R)-3,5-dihydroxy-7-[(1S,2S,6S,8S,8aR)-6-hydroxy-2-methyl-8-{[(2S)-2-methylbutanoyl]oxy}-1,2,6,7,8,8a-hexahydronaphthalen-1-yl]heptanoic acid
(3R,5R)-7-[(1S,2S,6S,8S,8aR)-6-hydroxy-2-methyl-8-[(2S)-2-methylbutanoyl]oxy-1,2,6,7,8,8a-hexahydronaphthalen-1-yl]-3,5-dihydroxyheptanoic acid
1,2,6,7,8,8a-hexahydro-beta,delta,6-trihydroxy-2-methyl-8-(2-methyl-1-oxobutoxy)-, (1S-(1alpha(betaS*,deltaS*),2alpha,6alpha,8beta(R*),8aalpha))-1-Naphthaleneheptanoic acid
3beta-Hydroxycompactin
81093-37-0
81131-70-6 (hydrochloride salt)
AC1L1HJL
AC1Q5T3M
BIDD:GT0773
BRD-K60511616-236-01-4
C01844
C23H36O7
CCRIS 7557
CHEMBL1144
CID54687
Compactin
D08410
DB00175
Elisor
Eptastatin
FT-0082682
KS-5015
LS-94713
Lipostat
Mevalothin
Mevalotin
Mevastatin
Mevinolin
Oliprevin
 
Pravachol
Pravaselect
Pravastatin
Pravastatin (INN)
Pravastatin Sodium
Pravastatin Sodium Salt
Pravastatin [INN:BAN]
Pravastatin acid
Pravastatin sodium
Pravastatin tert-Octylamine Salt
Pravastatina
Pravastatina [Spanish]
Pravastatine
Pravastatine [French]
Pravastatinum
Pravastatinum [Latin]
Pravator
Pravator (TN)
RMS-431
SQ-31,000
Selectin
Selektine
Selipran
UNII-KXO2KT9N0G
Vasten
nchembio.301-comp7
nchembio790-comp15
pravastatin
pravastatina
pravastatine
pravastatinum
2
Sirolimusapproved, investigationalPhase 1, Phase 2174253123-88-95284616, 6436030, 46835353
Synonyms:
(-)-Rapamycin
(-)-rapamycin
1fkb
1pbk
23,27-Epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine
23,27-Epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine
23,27-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine-1,5,11,28,29
3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
53123-88-9
A422989, NSC226080
AC-722
AC1L1JH9
AC1L7MJ9
AC1L9ZMV
AY 22989
AY-22989
AY22989
Ambotz53123-88-9
Antibiotic AY 22989
BIDD:PXR0165
Bio1_000293
Bio1_000782
Bio1_001271
Bio2_000375
Bio2_000855
BiomolKI2_000084
C07909
C51H79NO13
CBiol_002007
CCRIS 9024
CHEBI:100923
CHEBI:9168
CHEMBL413
CID10213190
CID10795871
CID11949238
CID11959112
CID313006
CID478951
CID5040
CID5284616
CID5358081
CID5374464
CID5460439
CID5497196
CID5924240
CID6436030
CID6610270
CID6610346
CID6711160
CID6713081
CID9833581
CID9854379
CID9854380
CID9962926
CID9962928
D00753
DB00877
DE-109
DivK1c_006936
 
FT-0082351
HMS2089A21
HSDB 7284
KBio1_001880
KBio2_000410
KBio2_002978
KBio2_005546
KBio3_000779
KBio3_000780
KBioGR_000410
KBioSS_000410
LCP-Siro
LMPK06000003
LS-143290
MLS000028373
MS-R001
MolMap_000043
MolPort-003-959-433
NCGC00021305-05
NCI60_001851
NCIMech_000355
NSC 226080
NSC226080
Perceiva
QTL1_000069
R0395_SIAL
R0395_SIGMA
RAP
RAPA
RPM
Rapammune
Rapamune
Rapamune (TN)
Rapamycin
Rapamycin (TN)
Rapamycin C-7, analog 4
Rapamycin Immunosuppressant Drug
Rapamycin from Streptomyces hygroscopicus
S1039_Selleck
SIIA 9268A
SILA 9268A
SILA9268A
SMP1_000255
SMR000058564
Sirolimus
Sirolimus (RAPAMUNE)
Sirolimus (USAN/INN)
Sirolimus [USAN:BAN:INN]
Sirolimus, Rapamune,Rapamycin
SpecPlus_000840
UNII-W36ZG6FT64
UNM-0000358684
WY-090217
Wy 090217
heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy
nchembio.100-comp4
nchembio.2007.42-comp2
nchembio.79-comp1
nchembio762-comp1
nchembio883-comp3
rapamycin
sirolimus
3
Miconazoleapproved, investigationalPhase 1, Phase 2291222916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
Desenex
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Makesense
Micantin (nitrate)
Micatin
 
Miconasil Nitrate
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Oravig
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
Rash Relief Antifungal
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
4
EverolimusapprovedPhase 1, Phase 21742159351-69-66442177
Synonyms:
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.04,9)hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,23S,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriacont
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-Hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-23,27-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34as)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethy
07741_FLUKA
159351-69-6
40-O-(2-hydroxyethyl)-rapamycin
42-O-(2-Hydroxyethyl)rapamycin
Afinitor
Afinitor Disperz
CERTICAN(R)
CHEMBL1201755
Certican
D02714
DB01590
 
Everolimus
Everolimus (JAN/USAN/INN)
Everolimus [USAN]
LS-143292
MolPort-003-847-342
MolPort-003-925-588
NCGC00167512-01
NVP-RAD-001
RAD 001
RAD-001
RAD-001C
RAD001
RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus
S1120_Selleck
SDZ-RAD
UNII-9HW64Q8G6G
VOTUBIA
Zortress
everolimus
5DiphosphonatesPhase 2369
6
Zoledronic acidPhase 2276118072-93-868740
Synonyms:
(1-Hydroxy-2-imidazol-1-ylethylidene)diphosphonic acid
(1-hydroxy-2-(1H-imidazol-1-yl)ethylidene)bisphosphonic acid
(1-hydroxy-2-imidazol-1-yl-1-phosphonoethyl)phosphonic acid
(1-hydroxy-2-imidazol-1-yl-phosphonoethyl)phosphonic acid monohydrate
118072-93-8
2-(imidazol-1-yl)-1-hydroxyethane-1,1-diphosphonic acid
2-(imidazol-1-yl)-1-hydroxyethylidene-1,1-bisphosphonic acid
AC-1092
AC1L2ACJ
AC1Q6RN3
AKOS005145739
Aclasta
BIDD:GT0292
BIDD:PXR0134
Bio-0112
Bisphosphonate 3
C088658
CGP 42'446
CGP 42446
CGP 42446A
CGP-42'446
CGP-42446
CHEBI:46557
CHEMBL924
CID68740
D08689
 
DB00399
FT-0082657
HMS2089O09
I06-0710
KS-1132
LS-181815
MolPort-002-885-874
MolPort-003-850-890
NCGC00159521-02
NCGC00159521-03
NSC721517
Novartis brand of zoledronic acid
Reclast
Reclast (TN)
S00092
S1314_Selleck
UNII-70HZ18PH24
ZOL
Zoledronate
Zoledronic acid
Zoledronic acid (INN)
Zoledronic acid [USAN:INN]
Zometa
Zometa (Novartis)
Zometa (TN)
Zometa Concentrate
Zometa, Zomera, Aclasta and Reclast, Zoledronic Acid
[1-hydroxy-2-(1H-imidazol-1-yl)ethane-1,1-diyl]bis(phosphonic acid)
7
Mentholapproved17482216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
999 Itch Relief
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
Absorbine Back Therapeutic Pain Relief
Absorbine Jr
Absorbine Jr Ultra Strength Pain Relieving
Absorbine Jr.
Absorbine Jr. Back
Algomend Pain Relief
Alhua Huogan Pain Relieving Patch
Aloemint Skin Aid
Amar Ice
Analgesic
Anc Neverpain External Analgesic
Anti Itch
Army Health Pain Reliever
Arthri-support
Arthri-zen Relief
Arthripain Relief
Arthritis Relief
Aspercreme Heat
Aspercreme Max No Mess Roll On
Assured Cold N Hot Pain Relief Menthol
Assured Extra Strength Cold N Hot
Assured Ice Cold Topical Analgesic
Assured Muscle Rub
Assured Pain Relief Hot Menthol
Atopalm Pain Relieving
Aurorae Healing Pain Relieving Roll-on
Avapta
Avedana Pain Relieving Roll On
Avedana Pain-relieving
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
Babyganics Cold Relief Chest Rub
Barox
Barox BODY CARE MASSAGE
Barox Body Care Massage Relax Refresh Revital
Being Well Extra Strength Menthol Heat
Bengay Ultra Strength Large Size
Bengay Ultra Strength Pain Relieving Large Size
Bengay Ultra Strength Pain Relieving Regular Size
Bengay Ultra Strength Regular Size
Bengay Vanishing Scent
Bengay Zero Degrees Menthol Pain Relieving
Bentasil SUGAR FREE BLACKCURRANT SOFT Texture
Bentasil SUGAR FREE CHERRY SOFT Texture
Bentasil SUGAR FREE HONEY LEMON SOFT Texture
Berri-freez
Besthealth Cherry
Besthealth Cough Suppressant Sugar Free Black Cherry Flavor
Besthealth Cough Suppressant Sugar Free Honey Lemon Flavor
Besthealth Honey Lemon
Besthealth Menthol
Bio 2 Brazilian Heat Brazilian Heat
Bio-scriptives Extreme Pr
Bioblast Pain Relief
Bioflexor
Biofreeze
Biofreeze Colorless
Biofreeze Colorless Roll-on
Biofreeze Roll-on
Biorelief Ice Pain Relieving
Blistex Ivarest Medicated Poison Ivy Cleansing Foam
Blue Gel Pain Relieving
Blue Ice
Blue Ice Analgesic
Blue Ice Analgesic Gel
Blue Ice Pain Relieving
Body
Budpack Muscle Rub
Budpak Muscle Rub
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Canker Complete Canker Sore Relief
Caswell No. 540
Celadrin
Cepacol Sore Throat From Post Nasal Drip
Cepacol Sore Throat Regular Strength
Ching Wan Hung Soothing Herbal Balm
Choice Personal Care Theraputic Blue Ice
Cold Hot Patch
Cold Spot Point Relief
Coldaid
Cool N Heat Patch For Back Extra Strength
Coralite Extra Strength Menthol Pain Relief Sleeve - Knee
Coralite Extra Strength Menthol Pain Relief Sleeve - Wrist
Coralite Pain Relief
Counteract Cough Drops Honey Lemon
Counteract Cough Drops Orchard Cherry
Cryogel Island Rain Natural Pain Relieving Vitaminerals
Cvs Cold Hot Medicated
Cvs Soothing Itch Relief
Cvs Sore Muscle Rub Vanishing Scent
Cvs Therapeutic Menthol Gel
Cvs Therapeutic Menthol Pain Reliever
Cvs Tropical Citrus Cough
Cvs Ultra Strength Pain Relieving
Cvs Vanishing Scent Muscle Rub
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
Dg Health Extra Strength Medicated
Dg Health Pain Relieving
Dg Ice Cold Analgesic
Diapedic Foot Treatment
DivK1c_000820
Dorflex Icy Hot Flexible, Large
Dorflex Icy Hot Flexible, Small
Dorflex Icy Hot Flexible, XL
Dr. Blue
Dt Ice Cold Analgesic
Dual Action Cherry Cough Suppressant Oral Anesthetic
Dynafreeze
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
Easy
Eb301ap Pain Relief
Eb301ct Bruise Pain Relief
Eb302 Arthritis Relief
Ecolyptus Pain Relieving Muscle Rub
Efac Pain Relieving
Elgin Pain Relief
Equaline Blue Ice Pain Relieving
Equate Menthol Extra Strength
Eros Iron Man
Eucalyptamint
Eucerin Calming Itch Relief Treatment
Extra Strength Cold N Hot Pain Relief Medicated
Extra Strength Pain Relief Therapy
Extra Strength Stopain Cold Pain Relieving
Extra Strength Stopain Cold Pain Relieving Roll On
FEMA No. 2665
Family Care Maximum Strength Medicated Anti Itch
Fast Freeze
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
Flexall Pain Relieving
Flexgen
Fluaid
Foot Works Achy Foot Massager Pain Relieving
Gold Bond Foot Extra Strength
Gold Bond Medicated Foot
Gold Bond Pain Relieving Foot
Gold Bond Pain Relieving Foot Roll On
Green Bamboo
Green Guard Cough Drop Relief
HMS1922G13
HMS2092L14
HMS502I22
HSDB 5662
HSDB 593
Halls Apple Cider
Halls Butterscotch
Halls Cherry
Halls Extra Strong Menthol
Halls Honey Lemon
Halls Ice Peppermint
Halls MENTHO-LYPTUS
Halls Melon Splash
Halls Menthol
Halls Mentholyptus
Halls Mocha Mint
Halls Naturals Honey Lemon Chamomile
Halls Plus Cherry
Halls Plus Honey
Halls Plus Strawberry
Halls Spearmint
Halls Strawberry
Halls Sugar Free Black Cherry
Halls Sugar Free Citrus Blend
Halls Sugar Free Extra Strong Menthol
Halls Sugar Free Honey Berry
Halls Sugar Free Honey Lemon
Halls Sugar Free Mountain Menthol
Halls Tropical Fruit
Hallsmelon Splash Melon Splash
Hallssugar Free Extra Sugar Free Extra Strong Menthol
Han Honey Loquat Syrup
Hanbang Cataplasma
Harmon Extra Strength Pain Relieving
Harmon Extra Strength Pain Relieving Roll-on
Headache crystals
Health Smart Medicated Foot
Herbion Naturals Honey Lemon
Herbion Naturals Honey Lemon Cough Drops
Herbion Naturals Honey-Lemon Cough Drops
Herbion Naturals Mint Cough Drops
Herbion Naturals Orange
Herbion Naturals Orange Cough Drops
Hexahydrothymol
Hielo Ardiente
Honibe
 
Hot Ice Soothing Analgesic Gel
Huitomi Slimming Sports
Humphreys Bendito Alcoholado
I06-1216
I14-7371
IDI1_000820
Ice
Ice Cold Analgesic
Ice Cold Topical Analgesic Gel
Ice External Analgesic Leader
Ice Quake
Ice Quake Muscle Rub
Icy Cool Maximum Strength
Icy Hot
Icy Hot Back
Icy Hot Medicated
Icy Hot Medicated No Mess Applicator
Icy Hot Medicated Roll Large
Icy Hot Medicated Roll Medium
Icy Hot Medicated Roll, Large
Icy Hot Medicated Roll, Medium
Icy Hot Medicated, Advanced Relief
Icy Hot Medicated, Back
Icy Hot Medicated, XL
Icy Hot Naturals
Icy Hot Power Gel
Icy Hot Vanishing Scent
Icyhot Medicated
Imada Four Seasons Safe Analgesic Balm
Jakemans Blueberry
Jakemans Cherry
Jakemans Peppermint
K2 Cold Therapy
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
Kay Medic Menthol Pain Relief
Kool Comfort
Kool Comfort Pain Relieving Roll-on
Kpp Triple Action
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
La Jiao Feng Shi Gao
Lander Polar Ice
Leader Cough Drops Cherry Flavor
Leader Cough Drops Honey Lemon
Leader Cough Drops Menthol Flavor
Leader Extra Strength Medicated Pain Relief Patch
Leader Sugar Free Cough Drops Black Cherry
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
Linkus Lozenges Cough Suppressant/Oral Anesthetic
Low Sugar Cherry Flavor Fishermans Friend Menthol Cough Suppressant
Ludens Honey Lemon Throat Drops
Ludens Honey Licorice Throat Drops
Ludens Original Menthol Throat Drops
Lurosil
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Makesense Extra Strength Muscle Rub
Maxfit Freeze Gel
Maybelline New York Baby Lips Dr Rescue Medicated Balm
Medi First Plus Cherry Cough Drops
Medi-first Cherry Cough Drops
Medic Ice
Medicated Body Powder
Medicated Pain Relief
Mediflex
Medique Medikoff Drops
Medique Sugar Free Medikoff Drops
Meditowel PAIN RELIEF
Meijer Cherry Cough Drops
Meijer Honey Lemon Cough Drops
Meijer Menthol Cough Drops
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol Fresh Cough Suppressant
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Mentholatum Pain Relief Extra Strength
Mentholatum Sports Pain Relief Cold
Menthomenthol
Menthyl alcohol
Mineral Ice Pain Relieving
Miracle Foot Repair
Miracle Foot Repair Cream
Miracle Of Aloe Rub Roll On
Miracle Pain Cream
Moisture Therapy Anti-Itch
MolPort-000-849-729
MolPort-001-793-392
Moore Medical Cherry Cough Suppressant/anesthetic Drops
Moore Medical Sugar Free Black Cherry Cough Suppressant/anesthetic Drops
Moore Medical Sugar Free Menthol Cough Suppressant/anesthetic Drops
Mr Dudleys Topical Pain Relief
Muscle
Muscle Rub Ultra Strength Pain Relieving
Myo-breathe
Myorx Low Dose Pain Relieving
Myorx Pain Relieving
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Nan San Easy Flex Pain Relieving
Natural Cherry Honey Herb Throat Drops
Natural Herb cough drop
Natural Honey Herb Cough Suppressant Throat Drops
Natural Lemon Mint Herb Throat Drops
Natural Pain Relieving Lavender Breeze Cryogel
Natures Choice Cool Hot Ice
Natures Sunshine Products Everflex Topical Analgesic Pain Relief
Neoisomenthol
Nice Assorted
Nice Cherry
Nice Citrus
Nice Cool Mint
Nice Honey Lemon
Nice Menthol
No Pain More Gain
North Cough Drop
Numotizine
Olbas Lozenges Maximun Strength
Olbas Pastilles
Original Extra Strong All Natural Fishermans Friend Menthol Cough Suppressant
Ortho-nesic
Osmoflex
Oxyrub Pain Relief
Pain Relief Balmpreferred Plus Ph Preferred Plus Pharmacy
Pain Relief Therapy Patch
Pain Reliever
Pain Relieving
Pain Relieving Analgesic
Pain Relieving Patch
Pain Relieving Patch Ultra Strength
Pain Relieving Patch Ultra Strength ULTRA STRENGTH
Panitrol XR
Paraid Extra Strength Menthol Pain Relief Sleeve Knee Large Ankles Elbows
Patch Scherer Labs
Patch Walgreens
Peppermint camphor
Perfect Purity Hotice
Perfect Purity Medicated Foot Powder
Perform
Personal Care Extra Strength Cold Hot
Personal Care Ice Cold
Plaster MandAHerbalPlaster
Po Sum On Medicated
Polar Frost Cold
Power Relief
Preferred Plus Body Powder
Premier Value Medicated Foot Powder
Q Health Pain Relief Spray
Quickflex
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Raw Heat
Raw Ice
Reactice Reactivating Ice Baume
Red Lion Relief
Relief Pain Relieving Cream
Rexall Vanishing Scent Pain Relieving
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Screamin Menthol Toast
Sella Natural
Skin So Soft Bug Guard Plusitch Relief itch relief
Smith Bros Honey Lemon Cough Drops
Smith Bros Menthol Eucalyptus Cough Drops
Smith Bros Sugar-free Black Cherry Cough Drops
Sof Skin Icy Blue
Sofskin Ice Analgesic
Sombra Cool Therapy
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Stopain Cold Pain Relieving
Stopain Cold Professional Strength Pain Relieving
Stopain Extra Strength Pain Relieving
Sub-zero COOL PAIN RELIEVING
Sugar Free Cherry Fishermans Friend Menthol Cough Suppressant
Sugar Free Cherry Herb Throat Drops
Sugar Free Lemon Mint Herb Throat Drops
Sugar Free Mountain Herb Cough Suppressant Throat Drops
Sugar Free Original Swiss Herb Cough Suppressant Throat Drops
Sugar Free Refreshing Mint Fishermans Friend Menthol Cough Suppressant
Sugar Free Swiss Cherry Herb Throat Drops
The Medicine Shoppe Extra Strength Pain Relieving
The Original Natural Herb Cough Drops
Therafreeze
Theraid
Therapeutic Relief Preferred Plus Pharmacy
Theraplus Plus
Throat Coat
Tianhe Guben Yaoshen Tie Gao
Top Care Medicated
Topcare Medicated
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
Ultra Strength Stopain Pain Relieving
Us Favorite Cold Pain Relieving
Vaporizing Colds Rub
Vicks Vapodrops Cough Relief
Vitaminerals Inc. Cryogel Natural Pain Relieving
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
Walgreens Aloe Vera Cooling
Watermelon Frost Sore Throat
Wellpatch Backache Pain Relief
Xtracare Ice Cold Topical Analgesic Gel
Youngevity Invision CM
Yun Xiang Jing
ZINC01482164
Zhong Hua Jiu Patch
Zims Arnica Max
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Study of Zoledronic Acid, Pravastatin, and Lonafarnib for Patients With ProgeriaCompletedNCT00879034Phase 2
2Treatment of the Hutchinson-Gilford Progeria Syndrome With a Combination of Pravastatin and Zoledronic AcidCompletedNCT00731016Phase 2
3Phase I/II Trial of Everolimus in Combination With Lonafarnib in ProgeriaRecruitingNCT02579044Phase 1, Phase 2
4Study of Zoledronic Acid, Pravastatin, and Lonafarnib for Patients With ProgeriaActive, not recruitingNCT00916747Phase 2
5Phase II Trial of Lonafarnib (a Farnesyltransferase Inhibitor) for ProgeriaActive, not recruitingNCT00425607Phase 2
6Clinical Studies of ProgeriaCompletedNCT00094393
7Accelerated Aging, HIV Infection, Antiretroviral TherapiesCompletedNCT01038999
8Identification of a New Gene Involved in Hereditary LipodystrophyCompletedNCT02056912

Search NIH Clinical Center for Progeria


Cochrane evidence based reviews: Progeria

Genetic Tests for Progeria

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Genetic tests related to Progeria:

id Genetic test Affiliating Genes
1 Hutchinson-Gilford Progeria Syndrome22 LMNA
2 Hutchinson-Gilford Syndrome24

Anatomical Context for Progeria

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MalaCards organs/tissues related to Progeria:

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

Animal Models for Progeria or affiliated genes

About this section

MGI Mouse Phenotypes related to Progeria:

38 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.0ERCC1, ERCC4, LMNA, TWIST2, XPA, ZMPSTE24
2MP:00053758.7B4GALT1, ERCC1, LMNA, TWIST2, WRN, XPA
3MP:00053718.6GGT1, LMNA, TWIST2, WRN, XPA, ZMPSTE24
4MP:00053698.5ELN, ERCC1, LMNA, LMNB1, SYNE2, TWIST2
5MP:00053888.2ANK3, B4GALT1, ELN, LMNA, LMNB1, SYNE2
6MP:00053907.9ELN, ERCC1, GGT1, LMNA, LMNB1, TWIST2
7MP:00053797.7B4GALT1, ERCC1, GGT1, LMNA, TWIST2, WRN
8MP:00053847.5B4GALT1, ERCC1, ERCC4, LMNA, LMNB1, SYNE2
9MP:00107717.0B4GALT1, ERCC1, GGT1, LMNA, LMNB1, SYNE2
10MP:00053876.9B4GALT1, ERCC1, GGT1, LMNA, SUV39H1, TWIST2
11MP:00053976.7B4GALT1, ERCC1, GGT1, LMNA, SUV39H1, TWIST2
12MP:00053786.6B4GALT1, ERCC1, ERCC4, GGT1, LMNA, LMNB1
13MP:00107685.3ANK3, B4GALT1, ELN, ERCC1, ERCC4, GGT1

Publications for Progeria

About this section

Articles related to Progeria:

(show top 50)    (show all 486)
idTitleAuthorsYear
1
Stem cell aging in adult progeria. (26435834)
2015
2
Progerin reduces LAP2I+-telomere association in Hutchinson-Gilford progeria. (26312502)
2015
3
Hutchinson-Gilford Progeria Syndrome Caused by an LMNA Mutation: A Case Report. (25556323)
2015
4
Hutchinson-Gilford progeria syndrome. (26564085)
2015
5
New Lmna knock-in mice provide a molecular mechanism for the 'segmental aging' in Hutchinson-Gilford progeria syndrome. (24203701)
2013
6
Defective nuclear import of Tpr in Progeria reflects the Ran sensitivity of large cargo transport. (23649804)
2013
7
Hutchinson-gilford progeria syndrome: a rare genetic disorder. (24288630)
2013
8
Defective extracellular pyrophosphate metabolism promotes vascular calcification in a mouse model of Hutchinson-Gilford progeria syndrome that is ameliorated on pyrophosphate treatment. (23690466)
2013
9
A ceRNA analysis on LMNA gene focusing on the Hutchinson-Gilford progeria syndrome. (23317481)
2013
10
An inherited LMNA gene mutation in atypical Progeria syndrome. (22991222)
2012
11
Rapamycin activates autophagy in Hutchinson-Gilford progeria syndrome: implications for normal aging and age-dependent neurodegenerative disorders. (22170152)
2012
12
Progeria: pathogenesis and oral manifestation--a review. (22971867)
2012
13
Do you know this syndrome? Huntchinson-Gilford Syndrome (Progeria). (21437546)
2011
14
In vitro pathological modelling using patient-specific induced pluripotent stem cells: the case of progeria. (22103524)
2011
15
An accumulation of non-farnesylated prelamin A causes cardiomyopathy but not progeria. (20421363)
2010
16
Prelamin A prenylation and the treatment of progeria. (19965579)
2010
17
Effect of progerin on the accumulation of oxidized proteins in fibroblasts from Hutchinson Gilford progeria patients. (19958786)
2010
18
Progeria. (20139583)
2009
19
Increased mechanosensitivity and nuclear stiffness in Hutchinson-Gilford progeria cells: effects of farnesyltransferase inhibitors. (18331619)
2008
20
Model of human aging: recent findings on Werner's and Hutchinson-Gilford progeria syndromes. (18982914)
2008
21
Phenotype and course of Hutchinson-Gilford progeria syndrome. (18256394)
2008
22
Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. (18796515)
2008
23
Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin. (18442998)
2008
24
Knockdown of mitochondrial heat shock protein 70 promotes progeria-like phenotypes in caenorhabditis elegans. (17189267)
2007
25
Distinct structural and mechanical properties of the nuclear lamina in Hutchinson-Gilford progeria syndrome. (16801550)
2006
26
Gene discovery speeds progeria research. (16493093)
2006
27
The truncated prelamin A in Hutchinson-Gilford progeria syndrome alters segregation of A-type and B-type lamin homopolymers. (16481358)
2006
28
A-type nuclear lamins, progerias and other degenerative disorders. (15722103)
2005
29
Prelamin A, Zmpste24, misshapen cell nuclei, and progeria--new evidence suggesting that protein farnesylation could be important for disease pathogenesis. (16207929)
2005
30
Hyaluronan is not elevated in urine or serum in Hutchinson-Gilford Progeria Syndrome. (12728312)
2003
31
Gene profile of replicative senescence is different from progeria or elderly donor. (11352641)
2001
32
Werner's syndrome (adult progeria): an affected mother and son presenting with resistant psychosis. (11704945)
2001
33
Progeria (Hutchinson-Gilford): a case report. (10380434)
1999
34
Hutchinson-Gilford progeria: faithful DNA maintenance, inheritance and allelic transcription of beta(1-4) galactosyltransferase. (9593312)
1998
35
Familial co-segregation of the elastin phenotype in skin fibroblasts from Hutchinson-Gilford progeria. (8246632)
1993
36
Report on a case of Hutchinson-Gilford progeria, with special reference to orthopedic problems. (1477072)
1992
37
Cell-cycle defect of DNA repair in progeria skin fibroblasts. (2615778)
1989
38
Progeria in two brothers. (3426482)
1987
39
Progeria: report of two cases and literature review. (3582231)
1986
40
A comparison of adult and childhood progerias: Werner syndrome and Hutchinson-Gilford progeria syndrome. (3909767)
1985
41
Cardiovascular abnormalities in progeria. Case report and review of the literature. (6894691)
1981
42
Progeria. (6176539)
1981
43
Letter: Progeria: a possible therapeutic approach. (4406015)
1974
44
Progeria (Hutchinson-Gilford). (4265458)
1973
45
Radiological findings in progeria. (5153663)
1971
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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Clinvar genetic disease variations for Progeria:

5 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1LMNANM_170707.3(LMNA): c.1579C> T (p.Arg527Cys)single nucleotide variantPathogenicrs57318642GRCh37Chr 1, 156106994: 156106994
2LMNANM_170707.3(LMNA): c.1824C> T (p.Gly608=)single nucleotide variantPathogenicrs58596362GRCh37Chr 1, 156108404: 156108404
3LMNANM_170707.3(LMNA): c.1822G> A (p.Gly608Ser)single nucleotide variantPathogenicrs61064130GRCh37Chr 1, 156108402: 156108402
4LMNANM_170707.3(LMNA): c.433G> A (p.Glu145Lys)single nucleotide variantPathogenicrs60310264GRCh37Chr 1, 156100484: 156100484
5LMNANM_170707.3(LMNA): c.1821G> A (p.Val607=)single nucleotide variantPathogenicrs59886214GRCh37Chr 1, 156108401: 156108401
6LMNANM_170707.3(LMNA): c.667G> A (p.Glu223Lys)single nucleotide variantPathogenicrs797044485GRCh38Chr 1, 156134832: 156134832
7LMNANM_170707.3(LMNA): c.1699_1968del270 (p.Gly567_Gln656del)deletionPathogenicGRCh38Chr 1, 156138488: 156138757
8LMNANM_170707.3(LMNA): c.1771T> A (p.Cys591Ser)single nucleotide variantPathogenicrs797044486GRCh38Chr 1, 156138560: 156138560
9LMNANM_170707.3(LMNA): c.1968G> A (p.Gln656=)single nucleotide variantPathogenicrs797044487GRCh38Chr 1, 156138757: 156138757
10LMNANM_170707.3(LMNA): c.1968+1G> Csingle nucleotide variantPathogenicrs113436208GRCh38Chr 1, 156138758: 156138758
11LMNANM_170707.3(LMNA): c.1968+2T> Asingle nucleotide variantPathogenicrs113860699GRCh38Chr 1, 156138759: 156138759
12LMNANM_170707.3(LMNA): c.1968+2T> Csingle nucleotide variantPathogenicrs113860699GRCh38Chr 1, 156138759: 156138759
13LMNANM_170707.3(LMNA): c.1968+5G> Csingle nucleotide variantPathogenicrs797044488GRCh38Chr 1, 156138762: 156138762
14LMNANM_170707.3(LMNA): c.1968+5G> Asingle nucleotide variantPathogenicrs797044488GRCh38Chr 1, 156138762: 156138762
15LMNANM_170707.3(LMNA): c.1303C> T (p.Arg435Cys)single nucleotide variantLikely pathogenic, Pathogenicrs150840924GRCh37Chr 1, 156106150: 156106150
16LMNANM_170707.3(LMNA): c.1619T> C (p.Met540Thr)single nucleotide variantPathogenicrs267607547GRCh37Chr 1, 156107455: 156107455
17LMNANM_170707.3(LMNA): c.1868C> G (p.Thr623Ser)single nucleotide variantPathogenicrs59267781GRCh37Chr 1, 156108448: 156108448
18LMNANM_170707.3(LMNA): c.1968+1G> Asingle nucleotide variantPathogenicrs113436208GRCh37Chr 1, 156108549: 156108549

Expression for genes affiliated with Progeria

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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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9BANF1, LMNA, LMNB1
29.6ERCC1, ERCC4, XPA
3
Show member pathways
9.4LMNA, LMNB1, SYNE2, UBE2I
4
Show member pathways
9.4LMNA, LMNB1, SYNE2, UBE2I
59.2ERCC1, ERCC4, LMNA, WRN, XPA
6
Show member pathways
9.0ERCC1, ERCC4, RFC1, WRN
7
Show member pathways
9.0ERCC1, ERCC4, RFC1, XPA
8
Show member pathways
8.7ERCC1, ERCC4, RFC1, UBE2I, XPA
9
Show member pathways
8.4ERCC1, ERCC4, RFC1, UBE2I, WRN, XPA
10
Show member pathways
8.0BANF1, ERCC4, LMNA, LMNB1, RFC1, SYNE2

GO Terms for genes affiliated with Progeria

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

idNameGO IDScoreTop Affiliating Genes
1lamin filamentGO:000563810.8LMNA, LMNB1
2nucleotide-excision repair factor 1 complexGO:000011010.7ERCC1, ERCC4
3ERCC4-ERCC1 complexGO:007052210.7ERCC1, ERCC4
4nucleotide-excision repair complexGO:000010910.7ERCC1, ERCC4
5transcription factor TFIID complexGO:000566910.6ERCC1, ERCC4
6nuclear laminaGO:000565210.5LMNA, SUV39H1
7nuclear envelopeGO:000563510.0LMNA, LMNB1, SYNE2, TPR
8nuclear membraneGO:00319659.6LMNA, LMNB1, SYNE2, TPR
9nucleoplasmGO:00056546.6BANF1, ERCC1, ERCC4, LMNA, LMNB1, RFC1
10nucleusGO:00056346.2BANF1, ERCC1, ERCC4, LMNA, LMNB1, RFC1

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1nucleotide-excision repair, DNA incision, 3-to lesionGO:000629510.6ERCC1, ERCC4
2nucleotide-excision repair, DNA incision, 5-to lesionGO:000629610.6ERCC1, ERCC4
3mitotic nuclear envelope reassemblyGO:000708410.6BANF1, LMNA
4UV protectionGO:000965010.5ERCC1, ERCC4
5negative regulation of telomere maintenanceGO:003220510.5ERCC1, ERCC4
6replicative cell agingGO:000130210.5ERCC1, WRN
7nuclear envelope organizationGO:000699810.4LMNA, SYNE2, ZMPSTE24
8mitotic nuclear envelope disassemblyGO:000707710.2BANF1, LMNA, TPR
9protein sumoylationGO:001692510.1TPR, UBE2I, WRN
10nucleotide-excision repair, DNA damage removalGO:00007189.9ERCC1, ERCC4, XPA
11multicellular organismal agingGO:00102599.9ERCC1, WRN
12telomere maintenanceGO:00007239.6ERCC4, RFC1, WRN
13double-strand break repair via homologous recombinationGO:00007249.5ERCC1, ERCC4, UBE2I, WRN
14double-strand break repairGO:00063029.5ERCC1, ERCC4, UBE2I, WRN
15transcription-coupled nucleotide-excision repairGO:00062839.4ERCC1, ERCC4, RFC1, XPA
16response to oxidative stressGO:00069799.4ERCC1, WRN, XPA
17nucleotide-excision repair, DNA incisionGO:00336839.3ERCC1, ERCC4, RFC1, XPA
18post-translational protein modificationGO:00436879.2B4GALT1, TPR, UBE2I, WRN
19nucleotide-excision repairGO:00062898.9ERCC1, ERCC4, RFC1, UBE2I, XPA
20global genome nucleotide-excision repairGO:00709118.9ERCC1, ERCC4, RFC1, UBE2I, XPA
21DNA repairGO:00062818.4ERCC1, ERCC4, RFC1, UBE2I, WRN, XPA

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

idNameGO IDScoreTop Affiliating Genes
1TFIID-class transcription factor bindingGO:000109410.7ERCC1, ERCC4
2single-stranded DNA endodeoxyribonuclease activityGO:000001410.6ERCC1, ERCC4
3structure-specific DNA bindingGO:004356610.6ERCC1, ERCC4
4damaged DNA bindingGO:000368410.1ERCC1, ERCC4, XPA
5protein bindingGO:00055154.1ANK3, B4GALT1, BANF1, ELN, ERCC1, ERCC4

Sources for Progeria

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet