MCID: HTC002
MIFTS: 62

Hutchinson-Gilford Progeria malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Hutchinson-Gilford Progeria

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Hutchinson-Gilford Progeria:

Name: Hutchinson-Gilford Progeria 52 12
Progeria 11 71 48 25 54 50 39 13 68
Hutchinson-Gilford Progeria Syndrome 52 11 71 23 24 25 54 70
Hgps 11 48 24 25 54 70
Hutchinson-Gilford Syndrome 11 25 27
Hutchinson Gilford Syndrome 11 48 24
 
Hutchinson Gilford Progeria Syndrome 48
Hutchinson Gilford Progeria 24
Hutchinson-Gilford Disease 11
Progeria of Childhood 25
Progeria Syndrome 11

Characteristics:

Orphanet epidemiological data:

54
progeria:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
hutchinson-gilford progeria:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
Penetrance: penetrance is complete...


Classifications:



External Ids:

OMIM52 176670
Disease Ontology11 DOID:3911
ICD1030 E34.8
MeSH39 D011371
NCIt45 C34951
Orphanet54 ORPHA740
MESH via Orphanet40 D011371
UMLS via Orphanet69 C0033300
ICD10 via Orphanet31 E34.8

Summaries for Hutchinson-Gilford Progeria

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OMIM:52 Hutchinson-Gilford progeria syndrome is a rare disorder characterized by short stature, low body weight, early loss of... (176670) more...

MalaCards based summary: Hutchinson-Gilford Progeria, also known as progeria, is related to mandibuloacral dysplasia and nestor-guillermo progeria syndrome, and has symptoms including abnormality of the genital system, narrow face and micrognathia. An important gene associated with Hutchinson-Gilford Progeria is LMNA (Lamin A/C), and among its related pathways are DNA damage_NHEJ mechanisms of DSBs repair and Granzyme Pathway. Affiliated tissues include skin, bone and eye, and related mouse phenotypes are hearing/vestibular/ear and liver/biliary system.

Genetics Home Reference:25 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 affect intellectual development or the development of motor skills such as sitting, standing, and walking.

NIH Rare Diseases:48 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

UniProtKB/Swiss-Prot:70 Hutchinson-Gilford progeria syndrome: Rare genetic disorder characterized by features reminiscent of marked premature aging.

Wikipedia:71 Progeria is an extremely rare genetic disorder in which symptoms resembling aspects of aging are... more...

GeneReviews for NBK1121

Related Diseases for Hutchinson-Gilford Progeria

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Graphical network of the top 20 diseases related to Hutchinson-Gilford Progeria:



Diseases related to hutchinson-gilford progeria

Symptoms & Phenotypes for Hutchinson-Gilford Progeria

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Symptoms by clinical synopsis from OMIM:

176670

Clinical features from OMIM:

176670

Human phenotypes related to Hutchinson-Gilford Progeria:

 64 54 (show all 123)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the genital system64 hallmark (90%) HP:0000078
2 narrow face64 hallmark (90%) HP:0000275
3 micrognathia64 54 hallmark (90%) Very frequent (99-80%) HP:0000347
4 proptosis64 54 hallmark (90%) Very frequent (99-80%) HP:0000520
5 delayed eruption of teeth64 54 hallmark (90%) Very frequent (99-80%) HP:0000684
6 thin skin64 54 hallmark (90%) Frequent (79-30%) HP:0000963
7 abnormality of the fingernails64 hallmark (90%) HP:0001231
8 alopecia64 54 hallmark (90%) Very frequent (99-80%) HP:0001596
9 hypoplastic toenails64 hallmark (90%) HP:0001800
10 weight loss64 hallmark (90%) HP:0001824
11 short stature64 54 hallmark (90%) Very frequent (99-80%) HP:0004322
12 prematurely aged appearance64 hallmark (90%) HP:0007495
13 abnormality of adipose tissue64 hallmark (90%) HP:0009124
14 reduced number of teeth64 hallmark (90%) HP:0009804
15 short distal phalanx of finger64 hallmark (90%) HP:0009882
16 thin vermilion border64 54 typical (50%) Frequent (79-30%) HP:0000233
17 abnormality of the fontanelles or cranial sutures64 typical (50%) HP:0000235
18 convex nasal ridge64 typical (50%) HP:0000444
19 abnormality of the clavicle64 typical (50%) HP:0000889
20 abnormality of skin pigmentation64 typical (50%) HP:0001000
21 acrocyanosis64 typical (50%) HP:0001063
22 gait disturbance64 typical (50%) HP:0001288
23 abnormality of the voice64 typical (50%) HP:0001608
24 coronary artery disease64 typical (50%) HP:0001677
25 osteolysis64 typical (50%) HP:0002797
26 abnormality of the hip bone64 typical (50%) HP:0003272
27 reduced bone mineral density64 typical (50%) HP:0004349
28 external ear malformation64 typical (50%) HP:0008572
29 lack of skin elasticity64 54 typical (50%) Frequent (79-30%) HP:0100679
30 skeletal dysplasia64 occasional (7.5%) HP:0002652
31 arthralgia64 occasional (7.5%) HP:0002829
32 nephrosclerosis64 occasional (7.5%) HP:0009741
33 malar flattening64 HP:0000272
34 growth delay64 54 Very frequent (99-80%) HP:0001510
35 congestive heart failure64 HP:0001635
36 myocardial infarction64 HP:0001658
37 angina pectoris64 54 Frequent (79-30%) HP:0001681
38 precocious atherosclerosis64 HP:0004416
39 premature coronary artery disease64 54 Frequent (79-30%) HP:0005181
40 generalized osteoporosis64 HP:0005744
41 absence of subcutaneous fat64 HP:0007485
42 midface retrusion64 HP:0011800
43 narrow mouth54 Very frequent (99-80%)
44 bird-like facies54 Very frequent (99-80%)
45 sensorineural hearing impairment54 Very frequent (99-80%)
46 abnormality of the thorax54 Very frequent (99-80%)
47 infertility54 Very frequent (99-80%)
48 hyperinsulinemia54 Very frequent (99-80%)
49 short clavicles54 Very frequent (99-80%)
50 osteoporosis54 Very frequent (99-80%)
51 prominent scalp veins54 Very frequent (99-80%)
52 joint stiffness54 Very frequent (99-80%)
53 failure to thrive54 Very frequent (99-80%)
54 nasal speech54 Very frequent (99-80%)
55 high pitched voice54 Very frequent (99-80%)
56 thrombocytosis54 Very frequent (99-80%)
57 hypoplastic facial bones54 Very frequent (99-80%)
58 thin bony cortex54 Very frequent (99-80%)
59 multiple joint contractures54 Very frequent (99-80%)
60 low gonadotropins (secondary hypogonadism)54 Very frequent (99-80%)
61 decreased body weight54 Very frequent (99-80%)
62 craniofacial disproportion54 Very frequent (99-80%)
63 aplastic clavicles54 Very frequent (99-80%)
64 sparse hair54 Very frequent (99-80%)
65 absence of pubertal development54 Very frequent (99-80%)
66 decreased serum estradiol54 Very frequent (99-80%)
67 decreased testosterone in males54 Very frequent (99-80%)
68 bilateral coxa valga54 Very frequent (99-80%)
69 prominent forehead54 Very frequent (99-80%)
70 lipoatrophy54 Very frequent (99-80%)
71 abnormal trabecular bone morphology54 Very frequent (99-80%)
72 macrotia54 Frequent (79-30%)
73 sparse eyebrow54 Frequent (79-30%)
74 hypermetropia54 Frequent (79-30%)
75 absent eyelashes54 Frequent (79-30%)
76 hypodontia54 Frequent (79-30%)
77 hypertension54 Frequent (79-30%)
78 thin ribs54 Frequent (79-30%)
79 cyanosis54 Frequent (79-30%)
80 hypohidrosis54 Frequent (79-30%)
81 hypotrichosis54 Frequent (79-30%)
82 keratoconjunctivitis sicca54 Frequent (79-30%)
83 hepatic steatosis54 Frequent (79-30%)
84 thin nail54 Frequent (79-30%)
85 broad-based gait54 Frequent (79-30%)
86 nail dysplasia54 Frequent (79-30%)
87 premature graying of hair54 Frequent (79-30%)
88 hypoplastic nipples54 Frequent (79-30%)
89 osteoarthritis54 Frequent (79-30%)
90 kyphosis54 Frequent (79-30%)
91 hyperphosphatemia54 Frequent (79-30%)
92 metaphyseal widening54 Frequent (79-30%)
93 ovoid vertebral bodies54 Frequent (79-30%)
94 aminoaciduria54 Frequent (79-30%)
95 intermittent claudication54 Frequent (79-30%)
96 widely patent fontanelles and sutures54 Frequent (79-30%)
97 arteriosclerosis of small cerebral arteries54 Frequent (79-30%)
98 tapering pointed ends of distal finger phalanges54 Frequent (79-30%)
99 reticulated skin pigmentation54 Frequent (79-30%)
100 prolonged prothrombin time54 Frequent (79-30%)
101 aplasia/hypoplasia of the earlobes54 Frequent (79-30%)
102 narrow nasal tip54 Frequent (79-30%)
103 dental crowding54 Occasional (29-5%)
104 insulin-resistant diabetes mellitus at puberty54 Occasional (29-5%)
105 osteopenia54 Occasional (29-5%)
106 acanthosis nigricans54 Occasional (29-5%)
107 stroke54 Occasional (29-5%)
108 prolonged qt interval54 Occasional (29-5%)
109 hypertriglyceridemia54 Occasional (29-5%)
110 transient ischemic attack54 Occasional (29-5%)
111 hip dislocation54 Occasional (29-5%)
112 abnormal ekg54 Occasional (29-5%)
113 regional abnormality of skin54 Occasional (29-5%)
114 sinus tachycardia54 Occasional (29-5%)
115 carotid artery stenosis54 Occasional (29-5%)
116 delayed puberty54 Very rare (<4-1%)
117 left ventricular hypertrophy54 Very rare (<4-1%)
118 cataract54 Excluded (0%)
119 dementia54 Excluded (0%)
120 corneal arcus54 Excluded (0%)
121 intellectual disability54 Excluded (0%)
122 neoplasm54 Excluded (0%)
123 old-aged sensorineural hearing impairment54 Excluded (0%)

MGI Mouse Phenotypes related to Hutchinson-Gilford Progeria according to GeneCards Suite gene sharing:

41 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.4ENPP1, LMNA, PRKDC, TNFRSF11B, TWIST2
2MP:00053709.1ADIPOQ, ENPP1, LMNA, PRKDC, TWIST2, ZMPSTE24
3MP:00053889.0ADIPOQ, ANK3, B4GALT1, LMNA, LMNB1, PRKDC
4MP:00053698.9ADIPOQ, ENPP1, LMNA, LMNB1, PRKDC, TWIST2
5MP:00053828.8LMNA, LMNB1, PRKDC, TNFRSF11B, TWIST2, WRN
6MP:00053718.7GGT1, LMNA, PRELP, TNFRSF11B, TWIST2, WRN
7MP:00053818.6B4GALT1, LMNA, NLRP12, PRKDC, TWIST2, WRN
8MP:00053918.5ENPP1, GGT1, LAMA1, LMNA, PRKDC, TWIST2
9MP:00053798.5ADIPOQ, B4GALT1, GGT1, LMNA, PRKDC, TWIST2
10MP:00053758.2ADIPOQ, B4GALT1, ENPP1, LMNA, PRKDC, TWIST2
11MP:00053677.9ADIPOQ, ANK3, ENPP1, GGT1, LMNA, PRKDC
12MP:00107717.8ADIPOQ, B4GALT1, ENPP1, GGT1, LMNA, LMNB1
13MP:00053857.7ADIPOQ, B4GALT1, ENPP1, LAMA1, LMNA, TNFRSF11B
14MP:00053847.6ADIPOQ, B4GALT1, LAMA1, LMNA, LMNB1, NLRP12
15MP:00053867.2ADIPOQ, ANK3, ENPP1, GGT1, LAMA1, LMNA
16MP:00053877.1ADIPOQ, B4GALT1, ENPP1, GGT1, LMNA, NLRP12
17MP:00053906.8ADIPOQ, ENPP1, GGT1, LMNA, LMNB1, PRELP
18MP:00053976.4ADIPOQ, B4GALT1, GGT1, LMNA, LMNB1, NLRP12
19MP:00053766.4ADIPOQ, B4GALT1, ENPP1, GGT1, LMNA, LMNB1
20MP:00053786.1ADIPOQ, B4GALT1, ENPP1, GGT1, LAMA1, LMNA
21MP:00107685.7ADIPOQ, ANK3, B4GALT1, ENPP1, GGT1, LAMA1

Drugs & Therapeutics for Hutchinson-Gilford Progeria

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

(show all 20)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PravastatinapprovedPhase 214981093-37-054687
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
Zoledronic acidapprovedPhase 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)
3
EverolimusapprovedPhase 1, Phase 21896159351-69-66442177
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
4
Miconazoleapproved, investigational, vet_approvedPhase 1, Phase 2362422916-47-84189
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
5
Sirolimusapproved, investigationalPhase 1, Phase 2189653123-88-95284616, 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
6Pharmaceutical SolutionsPhase 27793
7AntimetabolitesPhase 211774
8Anticholesteremic AgentsPhase 21983
9
s 1 (combination)Phase 2364
Synonyms:
 
Gimeracil / oteracil / tegafur
TS 1
10Lipid Regulating AgentsPhase 22702
11DiphosphonatesPhase 2446
12Bone Density Conservation AgentsPhase 23266
13Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 21956
14Hypolipidemic AgentsPhase 22721
15Immunosuppressive AgentsPhase 1, Phase 212770
16Anti-Infective AgentsPhase 1, Phase 221402
17Anti-Bacterial AgentsPhase 1, Phase 210884
18Antibiotics, AntitubercularPhase 1, Phase 26972
19Antifungal AgentsPhase 1, Phase 23615
20
Mentholapproved23532216-51-516666
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
1Phase II Trial of Lonafarnib (a Farnesyltransferase Inhibitor) for ProgeriaUnknown statusNCT00425607Phase 2
2A Study of Zoledronic Acid, Pravastatin, and Lonafarnib for Patients With ProgeriaCompletedNCT00879034Phase 2
3Treatment of the Hutchinson-Gilford Progeria Syndrome With a Combination of Pravastatin and Zoledronic AcidCompletedNCT00731016Phase 2
4Phase I/II Trial of Everolimus in Combination With Lonafarnib in ProgeriaRecruitingNCT02579044Phase 1, Phase 2
5Study of Zoledronic Acid, Pravastatin, and Lonafarnib for Patients With ProgeriaActive, not recruitingNCT00916747Phase 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 Hutchinson-Gilford Progeria


Cochrane evidence based reviews: progeria

Genetic Tests for Hutchinson-Gilford Progeria

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Genetic tests related to Hutchinson-Gilford Progeria:

id Genetic test Affiliating Genes
1 Hutchinson-Gilford Syndrome27
2 Hutchinson-Gilford Progeria Syndrome24 LMNA

Anatomical Context for Hutchinson-Gilford Progeria

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MalaCards organs/tissues related to Hutchinson-Gilford Progeria:

36
Skin, Bone, Eye, Cortex, Heart, Smooth muscle

Publications for Hutchinson-Gilford Progeria

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Articles related to Hutchinson-Gilford Progeria:

(show top 50)    (show all 199)
idTitleAuthorsYear
1
Anaesthesia and orphan disease: Hutchinson-Gilford progeria syndrome, a case report and summary of previous cases. (27749465)
2016
2
Vitamin D receptor signaling improves Hutchinson-Gilford progeria syndrome cellular phenotypes. (27145372)
2016
3
A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome. (27920058)
2016
4
Loss of H3K9me3 Correlates with ATM Activation and Histone H2AX Phosphorylation Deficiencies in Hutchinson-Gilford Progeria Syndrome. (27907109)
2016
5
Interruption of progerin-lamin A/C binding ameliorates Hutchinson-Gilford progeria syndrome phenotype. (27617860)
2016
6
Hutchinson-Gilford Progeria Syndrome: A premature aging disease caused by LMNA gene mutations. (27374873)
2016
7
Temsirolimus Partially Rescues the Hutchinson-Gilford Progeria Cellular Phenotype. (28033363)
2016
8
Progerin impairs chromosome maintenance by depleting CENP-F from metaphase kinetochores in Hutchinson-Gilford progeria fibroblasts. (27015553)
2016
9
Drug screening on Hutchinson Gilford progeria pluripotent stem cells reveals aminopyrimidines as new modulators of farnesylation. (26890144)
2016
10
Cardiac electrical defects in progeroid mice and Hutchinson-Gilford progeria syndrome patients with nuclear lamina alterations. (27799555)
2016
11
Clinical Trial of the Protein Farnesylation Inhibitors Lonafarnib, Pravastatin, and Zoledronic Acid in Children With Hutchinson-Gilford Progeria Syndrome. (27400896)
2016
12
Progerin reduces LAP2I+-telomere association in Hutchinson-Gilford progeria. (26312502)
2015
13
Hutchinson-Gilford Progeria Syndrome Caused by an LMNA Mutation: A Case Report. (25556323)
2015
14
Hutchinson-Gilford progeria syndrome. (26564085)
2015
15
DNA repair defects and genome instability in Hutchinson-Gilford Progeria Syndrome. (26079711)
2015
16
All-trans retinoic acid and rapamycin normalize Hutchinson Gilford progeria fibroblast phenotype. (26359359)
2015
17
Signaling pathway activation drift during aging: Hutchinson-Gilford Progeria Syndrome fibroblasts are comparable to normal middle-age and old-age cells. (25587796)
2015
18
Hutchinson-Gilford progeria syndrome. (26753148)
2015
19
Treatment considerations in hutchinson-gilford progeria syndrome: a case report. (25823488)
2015
20
Vascular disease modeling using induced pluripotent stem cells: Focus in Hutchinson-Gilford Progeria Syndrome. (26474704)
2015
21
Can Hutchinson-Gilford progeria syndrome be cured in the future? (25984432)
2015
22
Restoring SIRT6 Expression in Hutchinson-Gilford Progeria Syndrome Cells Impedes Premature Senescence and Formation of Dysmorphic Nuclei. (25765721)
2015
23
Transgene silencing of the Hutchinson-Gilford progeria syndrome mutation results in a reversible bone phenotype, whereas resveratrol treatment does not show overall beneficial effects. (25877214)
2015
24
Hutchinson-Gilford progeria syndrome as a model for vascular aging. (26330290)
2015
25
Hutchinson-Gilford progeria. (25946677)
2015
26
Sulforaphane enhances progerin clearance in Hutchinson-Gilford progeria fibroblasts. (25510262)
2015
27
Pluripotent stem cells to model Hutchinson-Gilford progeria syndrome (HGPS): Current trends and future perspectives for drug discovery. (26474742)
2015
28
Reactivation of latently infected HIV-1 viral reservoirs and correction of aberrant alternative splicing in the LMNA gene via AMPK activation: Common mechanism of action linking HIV-1 latency and Hutchinson-Gilford progeria syndrome. (26115946)
2015
29
Dental and craniofacial characteristics in a patient with Hutchinson-Gilford progeria syndrome. (25001855)
2014
30
Interfacial binding and aggregation of lamin A tail domains associated with Hutchinson-Gilford progeria syndrome. (25194277)
2014
31
Impact of farnesylation inhibitors on survival in Hutchinson-Gilford progeria syndrome. (24795390)
2014
32
Clinical and radiographic features of Hutchinson-Gilford progeria syndrome: A case report. (24653988)
2014
33
Epigenetic involvement in Hutchinson-Gilford progeria syndrome: a mini-review. (24603298)
2014
34
Hutchinson-gilford progeria versus mandibuloacral dysplasia. (24700965)
2014
35
Hutchinson - Gilford progeria syndrome: A rare case report. (25396134)
2014
36
Hutchinson-Gilford progeria syndrome with scleroderma-like skin changes due to a homozygous missense LMNA mutation. (25371241)
2014
37
Defective extracellular pyrophosphate metabolism promotes vascular calcification in a mouse model of Hutchinson-Gilford progeria syndrome that is ameliorated on pyrophosphate treatment. (23690466)
2013
38
A ceRNA analysis on LMNA gene focusing on the Hutchinson-Gilford progeria syndrome. (23317481)
2013
39
Identification of mitochondrial dysfunction in Hutchinson-Gilford progeria syndrome through use of stable isotope labeling with amino acids in cell culture. (23969228)
2013
40
Moving from gene discovery to clinical trials in Hutchinson-Gilford progeria syndrome. (23897868)
2013
41
Correlated alterations in genome organization, histone methylation, and DNA-lamin A/C interactions in Hutchinson-Gilford progeria syndrome. (23152449)
2013
42
Hutchinson-Gilford progeria syndrome alters nuclear shape and reduces cell motility in three dimensional model substrates. (23370891)
2013
43
Extradural hematoma surgery in a child with Hutchinson-Gilford progeria syndrome: Perioperative concerns. (24082942)
2013
44
New Lmna knock-in mice provide a molecular mechanism for the 'segmental aging' in Hutchinson-Gilford progeria syndrome. (24203701)
2013
45
Hutchinson-gilford progeria syndrome: a rare genetic disorder. (24288630)
2013
46
Neurologic features of Hutchinson-Gilford progeria syndrome after lonafarnib treatment. (23897869)
2013
47
Hutchinson-gilford progeria syndrome and its relevance to cardiovascular diseases and normal aging. (23611131)
2013
48
Hutchinson-Gilford progeria syndrome through the lens of transcription. (23496208)
2013
49
Hutchinson-Gilford progeria syndrome: report of 2 cases and a novel LMNA mutation of HGPS in China. (24034385)
2013
50
Bilateral stenosis of carotid siphon in Hutchinson-Gilford progeria syndrome. (23141186)
2013

Variations for Hutchinson-Gilford Progeria

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UniProtKB/Swiss-Prot genetic disease variations for Hutchinson-Gilford Progeria:

70
id Symbol AA change Variation ID SNP ID
1LMNAp.Leu140ArgVAR_017658rs60652225
2LMNAp.Glu145LysVAR_017659rs60310264
3LMNAp.Arg471CysVAR_017662rs28928902
4LMNAp.Arg527CysVAR_017663rs57318642
5LMNAp.Gly608SerVAR_017664rs61064130
6LMNAp.Ser143PheVAR_034707rs58912633
7LMNAp.Lys542AsnVAR_034710rs56673169
8LMNAp.Arg644CysVAR_039792rs142000963
9LMNAp.Glu138LysVAR_070175rs267607649
10LMNAp.Asp300GlyVAR_070178

Clinvar genetic disease variations for Hutchinson-Gilford Progeria:

5 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1LMNANM_170707.3(LMNA): c.1579C> T (p.Arg527Cys)SNVPathogenicrs57318642GRCh37Chr 1, 156106994: 156106994
2LMNANM_170707.3(LMNA): c.1824C> T (p.Gly608=)SNVPathogenicrs58596362GRCh37Chr 1, 156108404: 156108404
3LMNANM_170707.3(LMNA): c.1822G> A (p.Gly608Ser)SNVPathogenicrs61064130GRCh37Chr 1, 156108402: 156108402
4LMNANM_170707.3(LMNA): c.433G> A (p.Glu145Lys)SNVPathogenicrs60310264GRCh37Chr 1, 156100484: 156100484
5LMNANM_170707.3(LMNA): c.1821G> A (p.Val607=)SNVPathogenicrs59886214GRCh37Chr 1, 156108401: 156108401
6LMNANM_170707.3(LMNA): c.667G> A (p.Glu223Lys)SNVPathogenicrs797044485GRCh38Chr 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)SNVPathogenicrs797044486GRCh38Chr 1, 156138560: 156138560
9LMNANM_170707.3(LMNA): c.1968G> A (p.Gln656=)SNVPathogenicrs797044487GRCh38Chr 1, 156138757: 156138757
10LMNANM_170707.3(LMNA): c.1968+1G> CSNVPathogenicrs113436208GRCh38Chr 1, 156138758: 156138758
11LMNANM_170707.3(LMNA): c.1968+2T> ASNVPathogenicrs113860699GRCh38Chr 1, 156138759: 156138759
12LMNANM_170707.3(LMNA): c.1968+2T> CSNVPathogenicrs113860699GRCh38Chr 1, 156138759: 156138759
13LMNANM_170707.3(LMNA): c.1968+5G> CSNVPathogenicrs797044488GRCh38Chr 1, 156138762: 156138762
14LMNANM_170707.3(LMNA): c.1968+5G> ASNVPathogenicrs797044488GRCh38Chr 1, 156138762: 156138762
15LMNANM_170707.3(LMNA): c.1303C> T (p.Arg435Cys)SNVLikely pathogenic, Pathogenicrs150840924GRCh37Chr 1, 156106150: 156106150
16LMNANM_170707.3(LMNA): c.1619T> C (p.Met540Thr)SNVPathogenicrs267607547GRCh37Chr 1, 156107455: 156107455
17LMNANM_170707.3(LMNA): c.1868C> G (p.Thr623Ser)SNVPathogenicrs59267781GRCh37Chr 1, 156108448: 156108448
18LMNANM_170707.3(LMNA): c.1968+1G> ASNVPathogenicrs113436208GRCh37Chr 1, 156108549: 156108549

Expression for genes affiliated with Hutchinson-Gilford Progeria

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Search GEO for disease gene expression data for Hutchinson-Gilford Progeria.

Pathways for genes affiliated with Hutchinson-Gilford Progeria

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GO Terms for genes affiliated with Hutchinson-Gilford Progeria

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Cellular components related to Hutchinson-Gilford Progeria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lamin filamentGO:000563810.7LMNA, LMNB1
2extracellular matrixGO:00310129.7ACAN, LAMA1, LMNA, PRELP, PRKDC
3proteinaceous extracellular matrixGO:00055788.7ACAN, ELN, LAMA1, PRELP, TNFRSF11B
4extracellular spaceGO:00056158.4ADIPOQ, B4GALT1, ENPP1, GGT1, LAMA1, PRELP

Biological processes related to Hutchinson-Gilford Progeria according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1nuclear envelope organizationGO:000699810.6LMNA, ZMPSTE24
2keratan sulfate catabolic processGO:004234010.4ACAN, PRELP
3keratan sulfate biosynthetic processGO:001814610.1ACAN, B4GALT1, PRELP
4cellular response to insulin stimulusGO:003286910.1ADIPOQ, ENPP1, PRKDC
5negative regulation of protein autophosphorylationGO:00319539.9ADIPOQ, ENPP1, NLRP12
6skeletal system developmentGO:00015019.3ACAN, PRELP, TNFRSF11B
7extracellular matrix organizationGO:00301989.2ACAN, B4GALT1, ELN, LAMA1, TNFRSF11B

Molecular functions related to Hutchinson-Gilford Progeria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.2ACAN, ELN, LAMA1, PRELP

Sources for Hutchinson-Gilford Progeria

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet