MCID: PRG004
MIFTS: 54

Progeria malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Progeria

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Aliases & Descriptions for Progeria:

Name: Progeria 11 69 46 13 48 37 66
Hutchinson-Gilford Progeria Syndrome 11 69
Hutchinson Gilford Syndrome 11 46
Hutchinson-Gilford Syndrome 11 25
 
Hgps 11 46
Hutchinson Gilford Progeria Syndrome 46
Hutchinson-Gilford Disease 11
Progeria Syndrome 11

Classifications:



External Ids:

Disease Ontology11 DOID:3911
ICD1028 E34.8
MeSH37 D011371
NCIt43 C34951

Summaries for Progeria

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NIH Rare Diseases:46 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 hutchinson-gilford progeria syndrome, is related to hutchinson-gilford progeria and mandibuloacral dysplasia. An important gene associated with Progeria is LMNA (Lamin A/C), and among its related pathways are Cyclophosphamide Pathway, Pharmacodynamics and Nuclear Envelope Reassembly. Affiliated tissues include skin, heart and smooth muscle, and related mouse phenotypes are muscle and adipose tissue.

Wikipedia:69 Progeria (pronunciation: /proʊˈdʒɪəriə/) (Hutchinson–Gilford progeria syndrome,HGPS, progeria... more...

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 79)
idRelated DiseaseScoreTop Affiliating Genes
1hutchinson-gilford progeria32.6ANK3, LMNA, LMNB1, PRELP, WRN, ZMPSTE24
2mandibuloacral dysplasia30.6BANF1, LMNA, ZMPSTE24
3nestor-guillermo progeria syndrome12.2
4progeria variant syndrome ruvalcaba type11.9
5lmna-related cardiocutaneous progeria syndrome11.9
6progeria-associated arthropathy11.9
7werner syndrome11.7
8cockayne syndrome11.4
9progeroid short stature with pigmented nevi11.0
10restrictive dermopathy, lethal10.6LMNA, ZMPSTE24
11auditory perceptual disorder10.6LMNA, WRN
12proliferative type fibrocystic change of breast10.5LMNA, ZMPSTE24
13emery-dreifuss muscular dystrophy 2, ad10.4LMNA, SYNE2
143-methylglutaconic aciduria, type i10.3ERCC4, XPA
15kleine-levin hibernation syndrome10.3BANF1, ZMPSTE24
16reynolds syndrome10.3LMNA, LMNB1, ZMPSTE24
17pelger-huet anomaly10.3LMNA, LMNB1
18lymphoplasmacytic lymphoma10.1LMNA, WRN, XPA
19fanconi anemia, complementation group q10.1ERCC1, ERCC4
20pachyonychia congenita10.0BANF1, LMNA
21atherosclerosis10.0
22cerebrospinal fluid leak10.0ERCC1, ERCC4
23odontoclasia9.9BANF1, LMNA, LMNB1, SYNE2
24cutis laxa, autosomal recessive, type iiia9.9
25xeroderma pigmentosum, group f9.9
26dyskeratosis congenita9.9
27cockayne syndrome type ii9.9
28cockayne syndrome type i9.9
29cockayne syndrome type iii9.9
30de barsy syndrome9.9
31cataract9.8
32vascular disease9.8
33cerebritis9.8
34retinitis9.8
35myopathy9.8
36lipodystrophy9.8
37muscular dystrophy9.8
38dwarfism9.8
39cardiomyopathy9.8
40bursitis9.8ERCC1, ERCC4, XPA
41anemia, hemolytic, rh-null, regulator type9.8ERCC1, ERCC4, XPA
42schizophrenia9.7
43hiv-19.7
44coronary artery disease9.7
45osteoporosis9.7
46xeroderma pigmentosum, group a9.7
47ataxia-telangiectasia9.7
48phenylketonuria9.7
49hallermann-streiff syndrome9.7
50marcus gunn phenomenon9.7

Graphical network of the top 20 diseases related to Progeria:



Diseases related to progeria

Symptoms for Progeria

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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
PravastatinPhase 214781093-37-054687
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 (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
s 1 (combination)Phase 2343
Synonyms:
 
Gimeracil / oteracil / tegafur
TS 1
3
zoledronatePhase 2290118072-93-868740
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
(1-hydroxy-2-imidazol-1-ylethylidene)diphosphonic acid
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
Anhydrous Zoledronic Acid
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
Zol
Zoledronate
Zoledronic Acid Anhydrous
Zoledronic Acid, Anhydrous
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)
4
sirolimusPhase 1, Phase 2186353123-88-95284616, 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
5
EverolimusPhase 1, Phase 21863159351-69-66442177
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
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
Zortress
everolimus
6
MiconazolePhase 1, Phase 2357322916-47-84189
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
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
Micantin (nitrate)
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
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
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
7
Menthol21842216-51-516666
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
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
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
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
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 Syndrome25

Anatomical Context for Progeria

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MalaCards organs/tissues related to Progeria:

34
Skin, Heart, Smooth muscle, Bone, T cells, Skeletal muscle, Kidney

Animal Models for Progeria or affiliated genes

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MGI Mouse Phenotypes related to Progeria:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5ERCC1, LMNA, LMNB1, SYNE2, XPA, ZMPSTE24
2MP:00053758.4B4GALT1, ERCC1, LMNA, WRN, XPA, ZMPSTE24
3MP:00053718.2LMNA, PRELP, WRN, XPA, ZMPSTE24
4MP:00107718.0B4GALT1, ERCC1, LMNA, LMNB1, SYNE2, WRN
5MP:00053907.8ERCC1, LMNA, LMNB1, PRELP, WRN, XPA
6MP:00053977.8B4GALT1, ERCC1, LMNA, LMNB1, UBE2I, WRN
7MP:00053847.0B4GALT1, ERCC1, ERCC4, LMNA, LMNB1, SYNE2
8MP:00107685.7ANK3, B4GALT1, ERCC1, ERCC4, LMNA, LMNB1

Publications for Progeria

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Articles related to Progeria:

(show top 50)    (show all 504)
idTitleAuthorsYear
1
Coronary artery stenting in a patient with progeria. (27567006)
2016
2
Stem cell aging in adult progeria. (26435834)
2015
3
Progerin reduces LAP2I+-telomere association in Hutchinson-Gilford progeria. (26312502)
2015
4
Hutchinson-Gilford Progeria Syndrome Caused by an LMNA Mutation: A Case Report. (25556323)
2015
5
Hutchinson-Gilford progeria syndrome. (26564085)
2015
6
DNA repair defects and genome instability in Hutchinson-Gilford Progeria Syndrome. (26079711)
2015
7
All-trans retinoic acid and rapamycin normalize Hutchinson Gilford progeria fibroblast phenotype. (26359359)
2015
8
Gene-rich chromosomal regions are preferentially localized in the lamin B deficient nuclear blebs of atypical progeria cells. (25738644)
2015
9
Dental and craniofacial characteristics in a patient with Hutchinson-Gilford progeria syndrome. (25001855)
2014
10
Defective extracellular pyrophosphate metabolism promotes vascular calcification in a mouse model of Hutchinson-Gilford progeria syndrome that is ameliorated on pyrophosphate treatment. (23690466)
2013
11
A ceRNA analysis on LMNA gene focusing on the Hutchinson-Gilford progeria syndrome. (23317481)
2013
12
Leg ulcer in Werner syndrome (adult progeria): a case report. (23552003)
2013
13
Targeting isoprenylcysteine methylation ameliorates disease in a mouse model of progeria. (23686339)
2013
14
Lonafarnib for cancer and progeria. (22620979)
2012
15
Do you know this syndrome? Huntchinson-Gilford Syndrome (Progeria). (21437546)
2011
16
Absence of progeria-like disease phenotypes in knock-in mice expressing a non-farnesylated version of progerin. (21088111)
2011
17
Estimation of vessel age and early diagnose of atherosclerosis in progeria syndrome by using echo-tracking. (20571244)
2010
18
Progeria. (20139583)
2009
19
Model of human aging: recent findings on Werner's and Hutchinson-Gilford progeria syndromes. (18982914)
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
Involvement of xeroderma pigmentosum group A (XPA) in progeria arising from defective maturation of prelamin A. (17848622)
2008
23
Towards a Drosophila model of Hutchinson-Gilford progeria syndrome. (19021561)
2008
24
Hutchinson-Gilford progeria syndrome. (18509130)
2008
25
Gene discovery speeds progeria research. (16493093)
2006
26
The truncated prelamin A in Hutchinson-Gilford progeria syndrome alters segregation of A-type and B-type lamin homopolymers. (16481358)
2006
27
Hutchinson-Gilford progeria syndrome: review of the phenotype. (16838330)
2006
28
A-type nuclear lamins, progerias and other degenerative disorders. (15722103)
2005
29
Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant. (15726408)
2005
30
Aging and nuclear organization: lamins and progeria. (15145358)
2004
31
Hyaluronan is not elevated in urine or serum in Hutchinson-Gilford Progeria Syndrome. (12728312)
2003
32
Progeria (Hutchinson-Gilford): a case report. (10380434)
1999
33
Mulvihill-Smith progeria-like syndrome: a further report with delineation of phenotype, immunologic deficits, and novel observation of fibroblast abnormalities. (9066884)
1997
34
Excess of rare cancers in Werner syndrome (adult progeria). (8722214)
1996
35
No detectable mutations at Werner helicase locus in progeria. (8874483)
1996
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: report of two cases and literature review. (3582231)
1986
39
A comparison of adult and childhood progerias: Werner syndrome and Hutchinson-Gilford progeria syndrome. (3909767)
1985
40
Progeria. (6176539)
1981
41
Progeria: autopsy report of one case, with a review of pathologic findings reported in the literature. (1262674)
1976
42
Progeria (Hutchinson-Gilford). (4265458)
1973
43
Radiological findings in progeria. (5153663)
1971
44
Progeria. New look at an old problem. (5545918)
1971
45
Prevention by calciphylaxis of the progeria-like syndrome induced by chronic dihydrotachysterol overdosage. (13910525)
1962
46
Progeria, a pathologic study. (13825821)
1960
47
Ocular abnormalities in progeria. (13394266)
1956
48
Progeria; review of the literature with report of a case. (13139804)
1954
49
Progeria. (13062964)
1953
50
Progeria. (19986191)
1927

Variations for Progeria

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Clinvar genetic disease variations for Progeria:

5
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

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:

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.7ERCC1, ERCC4
2
Show member pathways
9.7BANF1, LMNA, LMNB1
3
Show member pathways
9.5ERCC1, ERCC4, WRN
4
Show member pathways
9.4ERCC1, ERCC4, XPA
59.4ERCC1, ERCC4, XPA
6
Show member pathways
9.3BANF1, LMNA, LMNB1, TPR
7
Show member pathways
9.0LMNA, LMNB1, SYNE2, UBE2I
8
Show member pathways
9.0LMNA, LMNB1, SYNE2, UBE2I
9
Show member pathways
8.9ERCC1, ERCC4, UBE2I, XPA
108.9ERCC1, ERCC4, LMNA, WRN, XPA
11
Show member pathways
8.7ERCC1, ERCC4, UBE2I, WRN, XPA
12
Show member pathways
8.0BANF1, LMNA, LMNB1, SYNE2, TPR, UBE2I

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:000563810.7LMNA, LMNB1
2ERCC4-ERCC1 complexGO:007052210.6ERCC1, ERCC4
3nucleotide-excision repair complexGO:000010910.6ERCC1, ERCC4
4transcription factor TFIID complexGO:000566910.5ERCC1, ERCC4
5nucleotide-excision repair factor 1 complexGO:000011010.1ERCC1, ERCC4, XPA
6nuclear chromosome, telomeric regionGO:000078410.0ERCC1, ERCC4, WRN
7nuclear membraneGO:00319659.5LMNA, LMNB1, SYNE2, TPR
8nuclear envelopeGO:00056359.0LMNA, LMNB1, SYNE2, TPR, UBE2I
9nucleusGO:00056347.0BANF1, ERCC1, ERCC4, LMNA, LMNB1, SYNE2
10nucleoplasmGO:00056546.7BANF1, ERCC1, ERCC4, LMNA, LMNB1, SYNE2

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1mitotic nuclear envelope reassemblyGO:000708410.5BANF1, LMNA
2nucleotide-excision repair involved in interstrand cross-link repairGO:190125510.4ERCC4, XPA
3negative regulation of telomere maintenanceGO:003220510.3ERCC1, ERCC4
4replicative cell agingGO:000130210.3ERCC1, WRN
5UV protectionGO:000965010.2ERCC1, ERCC4
6mitotic nuclear envelope disassemblyGO:000707710.0BANF1, LMNA, TPR
7base-excision repairGO:00062849.9WRN, XPA
8multicellular organism agingGO:00102599.9ERCC1, WRN
9telomere maintenanceGO:00007239.9ERCC4, WRN
10protein sumoylationGO:00169259.8TPR, UBE2I, WRN
11transcription-coupled nucleotide-excision repairGO:00062839.7ERCC1, ERCC4, XPA
12nucleotide-excision repairGO:00062899.7ERCC1, ERCC4, XPA
13nucleotide-excision repair, DNA incision, 3-to lesionGO:00062959.7ERCC1, ERCC4, XPA
14nucleotide-excision repair, DNA incisionGO:00336839.6ERCC1, ERCC4, XPA
15protein localization to nucleusGO:00345049.6LMNA, SYNE2
16nucleotide-excision repair, DNA incision, 5-to lesionGO:00062969.6ERCC1, ERCC4, XPA
17keratan sulfate biosynthetic processGO:00181469.6B4GALT1, PRELP
18response to oxidative stressGO:00069799.6ERCC1, WRN, XPA
19nucleotide-excision repair, preincision complex stabilizationGO:00062939.6ERCC1, ERCC4, XPA
20nuclear envelope organizationGO:00069989.4LMNA, SYNE2, ZMPSTE24
21global genome nucleotide-excision repairGO:00709119.2ERCC1, ERCC4, UBE2I, XPA
22cell agingGO:00075699.1PRELP, WRN

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

idNameGO IDScoreTop Affiliating Genes
1structure-specific DNA bindingGO:004356610.1ERCC1, ERCC4
2TFIID-class transcription factor bindingGO:000109410.0ERCC1, ERCC4
3single-stranded DNA endodeoxyribonuclease activityGO:00000149.7ERCC1, ERCC4
4damaged DNA bindingGO:00036849.4ERCC1, ERCC4, XPA

Sources for Progeria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet