MCID: HRD001
MIFTS: 46

Hereditary Multiple Exostoses malady

Categories: Genetic diseases, Bone diseases, Rare diseases

Aliases & Classifications for Hereditary Multiple Exostoses

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Aliases & Descriptions for Hereditary Multiple Exostoses:

Name: Hereditary Multiple Exostoses 11 69 13 66
Multiple Congenital Exostosis 11 25
Hereditary Multiple Exostoses 3 11
Hereditary Multiple Exostoses 1 11
Hereditary Multiple Exostoses 2 11
 
Exostoses, Multiple Hereditary 37
Multiple Exostosis Syndromes 11
Osteochondromatosis Syndrome 11
Multiple Ostechondromas 11

Classifications:



External Ids:

Disease Ontology11 DOID:206
ICD1028 Q78.6
MeSH37 D005097
NCIt43 C5183

Summaries for Hereditary Multiple Exostoses

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Disease Ontology:11 An exostosis that has material basis in a mutation on the genes ext1, ext2 and ext3 which results in multiple bony spurs throughout a child's growth.

MalaCards based summary: Hereditary Multiple Exostoses, also known as multiple congenital exostosis, is related to hereditary multiple osteochondromas and exostoses, multiple, type 2. An important gene associated with Hereditary Multiple Exostoses is EXT1 (Exostosin Glycosyltransferase 1), and among its related pathways are heparan sulfate biosynthesis and Metabolism. Affiliated tissues include bone, spinal cord and t cells.

Wikipedia:69 Hereditary multiple exostoses (HME or MHE), also known as diaphyseal aclasis, is a rare medical... more...

Related Diseases for Hereditary Multiple Exostoses

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Graphical network of the top 20 diseases related to Hereditary Multiple Exostoses:



Diseases related to hereditary multiple exostoses

Symptoms for Hereditary Multiple Exostoses

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Drugs & Therapeutics for Hereditary Multiple Exostoses

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Drugs for Hereditary Multiple Exostoses (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Maleic acidPhase 3292110-16-7444266
Synonyms:
(2Z)-2-Butenedioate
(2Z)-2-Butenedioic acid
(2Z)-Butene-2-dioate
(2Z)-Butene-2-dioic acid
(2Z)-but-2-enedioate
(2Z)-but-2-enedioic acid
(Z)-2-Butenedioate
(Z)-2-Butenedioic acid
(z)-butenedioate
(z)-butenedioic acid
2-Butenedioate
2-Butenedioic acid
Cis-butenedioate
Cis-butenedioic acid
 
H2male
Kyselina maleinova
MAE
Maleate
Maleic acid
Maleic acid [NA2215]
Maleinic acid
Malenic acid
Malezid CM
Scotchbond multipurpose etchant
Toxilic acid
cis-1,2-Ethylenedicarboxylic acid
cis-2-Butenedioate
cis-2-Butenedioic acid
cis-But-2-enedioate
cis-But-2-enedioic acid
2
protease inhibitorsPhase 35157
Synonyms:
 
protease inhibitors
3
AmlodipinePhase 346488150-42-92162
Synonyms:
()-Amlodipine
(RS)-3-ethyl 5-methyl 2-[(2-aminoethoxy)methyl]-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyridine-3,5-dicarboxylate
-3-(ethoxycarbonyl)-5-(methoxycarbonyl)-6-methyl-1,4-dihydropyridine
2-[(2-Aminoethoxy)methyl]-4-(2-chlorophenyl)
3,5-Pyridinedicarboxylic acid, 2-((2-aminoethoxy)methyl)-4-(2-chlorophenyl)-1,4-dihydro-6-methyl-, 3-ethyl 5-methyl ester
3,5-Pyridinedicarboxylic acid, 2-[(2-aminoethoxy)methyl]-4-(2-chlorophenyl)-1,4-dihydro-6-methyl-, 3-ethyl 5-methyl ester
3-Ethyl 5-methylester, (±)-2-[(2-aminoethoxy)methyl]-4-(o-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-Ethyl-5-methyl ( -)-2-((2-aminoethoxy)methyl)-4-(2-chlorphenyl)-1,4-dihydro-6-methyl-3,5-pyridindicarboxylat
3-Ethyl-5-methyl ( -)-2-((2-aminoethoxymethyl)-4-(o-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-Ethyl-5-methyl (+-)-2-(2-aminoethoxymethyl)-4-(O-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-Ethyl-5-methyl (+-)-2-(2-aminoethoxymethyl)-4-(o-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-Ethyl-5-methyl (.+/-.)-2-[(2-aminoethoxy)methyl]-4-(o-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-O-ethyl 5-O-methyl 2-(2-aminoethoxymethyl)-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyridine-3,5-dicarboxylate
3-ethyl 5-methyl 2-[(2-aminoethoxy)methyl]-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyridine-3,5-dicarboxylate
3-ethyl 5-methyl 2-{[(2-aminoethyl)oxy]methyl}-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyridine-3,5-dicarboxylate
88150-42-9
88150-47-4 (maleate (1:1))
AC-4535
AC1L1D26
AC1Q32ZS
AMLODIPINE BASE
AMVAZ
Ambap88150-42-9
Amlocard
Amlodipine
Amlodipine (INN)
Amlodipine Benzenesulfonate
Amlodipine Besilate
Amlodipine Besylate
Amlodipine Free Base
Amlodipine [INN:BAN]
Amlodipine besilate
Amlodipine besylate
Amlodipine free base
Amlodipino
Amlodipino [Spanish]
Amlodipinum
Amlodipinum [Latin]
Amlodis
Amlopres
Amlor
 
Amvaz
BIDD:GT0810
BRD-A22032524-074-02-4
BRD-A22032524-074-03-2
BSPBio_002727
C06825
CHEBI:2668
CHEMBL1491
CID2162
CPD000469198
Coroval
D07450
DB00381
HMS2052N03
HMS2089H07
I14-0798
Intervask
Istin
KBio3_001947
KBioGR_001643
LS-131183
Lipinox
Lotrel
MLS001401409
MolPort-001-792-963
NCGC00165957-01
NCGC00165957-02
NCGC00165957-03
Norvasc
Norvasc (TN)
Pelmec
R,S)-Amlodipine
Racemic Amlodipine
SAM001246705
SMR000469198
SPBio_000351
Spectrum2_000486
Spectrum3_001004
Spectrum4_001132
Spectrum5_001550
UK-4834011
UNII-1J444QC288
amlodipine
4
LosartanPhase 3281114798-26-43961
Synonyms:
(2-Butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
114798-26-4
124750-99-8 (mono-potassium salt)
1H-Imidazole-5-methanol, 2-butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl]- (9CI)
2-Butyl-4-chloro-1-((2'-(1H-etrazol-5-yl) (1,1'-biphenyl)-4-yl)methyl)-1H-imidazole-5-methanol
2-Butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl-1H-imidazole-5-methanol
2-N-Butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-butyl-4-chloro-1-[p-(o-1H-tetrazol-5ylphenyl)benzyl]imidazole-5-methanol
2-n-butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-n-butyl-4-chloro-5-hydroxymethyl-1-[[2'-(1H-tetrazol-5-yl)-biphenyl-4-yl]methyl]imidazole
AC1L1H3Q
BIDD:GT0286
BRD-K76205745-001-02-5
BSPBio_002695
C07072
C22H23ClN6O
CHEBI:6541
CHEMBL191
CID3961
CL23623
Cozaar
D08146
DB00678
DUP 89
DuP 89
DuP-753
HMS1922J13
HMS2093E22
Hyzaar
I14-9710
Jsp001094
KBio2_002193
 
KBio2_004761
KBio2_007329
KBio3_001915
KBioGR_001611
KBioSS_002193
L000351
LOSARTAN POTASSIUM
LS-78746
Lacidipine
Lortaan
Losartan
Losartan (INN)
Losartan Potassium
Losartan [INN:BAN]
Losartan monopotassium salt
Losartic
Losartic (TN)
MK-954
MK954
MolPort-003-666-553
NCGC00095125-01
NCGC00095125-02
NCGC00095125-03
Oprea1_644635
SPBio_001893
SPECTRUM1504268
Spectrum2_001677
Spectrum3_000998
Spectrum4_001126
Spectrum5_001466
Spectrum_001713
UNII-JMS50MPO89
[2-butyl-5-chloro-3-[[4-[2-(2H-tetrazol-5-yl)phenyl]phenyl]methyl]imidazol-4-yl]methanol
losartan
losartan potassium
5
VorinostatPhase 3, Phase 1240149647-78-95311
Synonyms:
149647-78-9
1zz1
AC-1923
AC1L1K2K
BRD-K81418486-001-10-3
C111237
CCRIS 8456
CHEBI:45716
CHEMBL98
CID5311
D06320
DB02546
EC-000.2057
FT-0082592
LS-186548
LS-186997
LS-187780
MK-0683
MK0683
MLS001065855
Merck brand of Vorinostat
MolPort-003-850-293
N'-hydroxy-N-phenyloctanediamide
N-Hydroxy-N'-phenyl octanediamide
N-Hydroxy-N'-phenyloctanediamide
N-Hyrdroxy-N'-phenyloctanediamide
N-hydroxy-N'-phenyl-octane-1,8-diotic acid diamide
N-hydroxy-N'-phenyloctanediamide
N1-hydroxy-N8-phenyloctanediamide
NCGC00168085-02
 
NHNPODA
NSC-701852
NSC701852
OCTANEDIOIC ACID HYDROXYAMIDE PHENYLAMIDE
Octanedioic acid hydroxyamide phenylamide
S1047_Selleck
SAHA
SAHA cpd
SAHA, Suberoylanilide hydroxamic acid
SHH
SKI390
SMR000486344
SW-064652
Suberanilohydroxamic acid
SuberoylaN/Aide hydroxamic acid
Suberoylanilide hydroxamic acid
UNII-58IFB293JI
Vorinostat
Vorinostat (JAN/USAN)
Vorinostat MSD
Vorinostat [USAN]
Vorinostatum
WIN64652
ZINC01543873
Zolinza
Zolinza (TN)
Zolinza, MK-0683, SAHA
m344
nchembio.275-comp2
nchembio.313-comp1
nchembio815-comp18
suberoylanilide hydroxamic acid
6
angiotensin IIPhase 3113568521-88-0, 11128-99-7172198, 65143
Synonyms:
1-8-Angiotensin I
1-L-Aspasaginyl-5-L-valyl angiotensin octapeptide
Ang II
Angiotensin 2
Angiotensin II (human)
 
Angiotensin II (mouse)
Angiotonin
Asp-arg-val-TYR-ile-his-pro-phe
Human angiotensin II
Hypertensin
Ile(5)-angiotensin II
7calcium channel blockersPhase 31889
8
EnalaprilPhase 311775847-73-35362032, 40466924
Synonyms:
(2S)-1-[(2S)-2-[[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid
(S)-1-(N-(1-(Ethoxycarbonyl)-3-phenylpropyl)-L-alanyl)-L-proline
(S)-1-{(S)-2-[1-((S)-ethoxycarbonyl)-3-phenyl-propylamino]-propionyl}-pyrrolidine-2-carboxylic acid
1-(N-((S)-1-Carboxy-3-phenylpropyl)-L-alanyl)-L-proline 1'-ethyl ester
75847-73-3
AC1NTUS5
Analapril
BIDD:GT0751
BPBio1_000340
BSPBio_000308
BSPBio_003035
Bonuten
C06977
CAS-76095-16-4
CHEBI:116847
CHEBI:4784
CHEMBL578
CID5388962
D07892
DivK1c_000408
Enalapril
Enalapril (INN)
Enalapril (TN)
Enalapril Bp
Enalapril Maleate
Enalapril Richet
Enalaprila
Enalaprila [INN-Spanish]
Enalaprilat
Enalaprilum
 
Enalaprilum [INN-Latin]
Gadopril
HMS2090E08
IDI1_000408
KBio1_000408
KBio2_001787
KBio2_004355
KBio2_006923
KBio3_002535
KBioGR_000355
KBioSS_001787
Kinfil
LS-190651
MolPort-002-885-877
N-[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]-L-alanyl-L-proline
N-{(1S)-1-[(ethyloxy)carbonyl]-3-phenylpropyl}-L-alanyl-L-proline
NCGC00016932-01
NCGC00021569-04
NCGC00021569-05
NCGC00021569-06
NINDS_000408
Prestwick3_000314
SPBio_001349
Spectrum2_001455
Spectrum3_001478
Spectrum4_000008
Spectrum5_001107
Spectrum_001307
Vaseretic
Vasotec
Vasotec IV
enalapril
9
EnalaprilatPhase 311776420-72-96917719
Synonyms:
(2S)-1-[(2S)-2-[[(2S)-1-hydroxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid
(2S)-1-[(2S)-2-[[(2S)-1-hydroxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid dihydrate
1-((2S)-2-{[(1S)-1-CARBOXY-3-PHENYLPROPYL]AMINO}PROPANOYL)-L-PROLINE
1-(N-((S)-1-Carboxy-3-phenylpropyl)-L-alanyl)-L-proline dihydrate
76420-72-9
AC1NUWEA
AC1OCEK7
BIDD:GT0752
C11720
C18H24N2O5.2H2O
CHEBI:116759
CHEBI:42302
CHEBI:4786
CHEBI:59877
CHEMBL1200697
CHEMBL577
CID5462501
CID6917719
CPD000466359
D03769
EAL
ENALAPRILAT INHIBITOR
Enalapril acid
Enalapril diacid
Enalaprilat
Enalaprilat (USP)
 
Enalaprilat anhydrous
Enalaprilate
Enalaprilatum
Enalaprilic acid
Enalprilate hydrate
HMS2051H16
HMS2089P04
LS-118903
LS-187219
MK-422
MLS000759476
MLS001424138
MolPort-005-943-792
N-[(1S)-1-Carboxy-3-phenylpropyl]-L-alanyl-L-proline
N-[(1S)-1-carboxy-3-phenylpropyl]-L-alanyl-L-proline
N-[(1S)-1-carboxy-3-phenylpropyl]-L-alanyl-L-proline--water (1/2)
N-[(1S)-1-carboxy-3-phenylpropyl]-L-alanyl-L-proline—water (1/2)
NCGC00164593-01
S1657_Selleck
SAM001246684
SBB065733
SMR000466359
Vasotec I.V.
enalaprilat dihydrate
enalaprilat hydrate
enalprilat hydrate
enalprilate hydrate
10insulinPhase 24401
11
PimecrolimusPhase 262137071-32-06447131, 17753757
Synonyms:
(3S,4R,5S,8R,9E,12S,14S,15R,16S,18R,19R,26aS)-3-((E)-2-((1R,3R,4S)-4-chloro-3-methoxycyclohexyl)-1-methylvinyl)-8-ethyl-5,6,8,11,12,13,14,15,16,17,18,19,24,26,26a-hexadecahydro-5,19-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclotricosine-1,17,20,21(4H,23H)-tetrone
137071-32-0
33-Epi-chloro-33-desoxyascomycin
33-epi-Chloro-33-desoxyascomycin
ASM 981
ASM-981
ASM-998
CHEMBL1200686
CID6447131
CID6509979
CID6916008
D05480
DB00337
 
Elidel
Elidel (TN)
I06-1252
LS-181798
MolPort-003-666-749
NCGC00167506-01
Pimecrolimus
Pimecrolimus (JAN/USAN/INN)
Pimecrolimus [USAN:INN:BAN]
Pimecrolimusum
S5004_Selleck
SDZ ASM 981
SDZ-ASM 981
SDZ-ASM-981
UNII-7KYV510875
12
MetforminPhase 21701657-24-914219, 4091
Synonyms:
1,1-Dimethyl biguanide
1,1-Dimethylbiguanide
3-(diaminomethylidene)-1,1-dimethylguanidine
657-24-9
AC1L1HE4
AKOS000121065
Apo-Metformin
BIDD:GT0697
BPBio1_000009
BRD-K79602928-003-04-1
BSPBio_000007
BSPBio_002314
C07151
C4H11N5
CAS-1115-70-4
CCRIS 9321
CHEBI:6801
CHEMBL1431
CID4091
D04966
DB00331
DMGG
Diabetosan
Diabex
Dimethylbiguanid
Dimethylbiguanide
Dimethylbiguanidine
Dimethyldiguanide
Dimethylguanylguanidine
EINECS 211-517-8
Fluamine
Flumamine
Fortamet
Gen-Metformin
Glifage
Gliguanid
Glucophage
Glucophage XR
Glumetza
Glycon
HMS2089D19
HSCI1_000295
Haurymelin
Haurymellin
Islotin
KBio2_002310
KBio2_004878
KBio2_007446
KBio3_002790
KBioGR_002310
 
KBioSS_002312
LA-6023
LS-43899
Melbin
Metformin
Metformin (USAN/INN)
Metformin HCL
Metformin [USAN:INN:BAN]
Metformina
Metformina [DCIT]
Metformina [Spanish]
Metformine
Metformine [INN-French]
Metformine pamoate
Metforminum
Metforminum [INN-Latin]
Metiguanide
MolPort-002-929-560
MolPort-004-288-389
MolPort-005-767-418
Mylan-Metformin
N,N-Dimethylbiguanide
N,N-Dimethyldiguanide
N,N-Dimethylimidodicarbonimidic diamide
N,N-dimethylimidodicarbonimidic diamide
N1,N1-Dimethylbiguanide
NCGC00016564-01
NCGC00016564-02
NCGC00016564-03
NNDG
Novo-Metformin
Nu-Metformin
PMS-Metformin
Prestwick0_000004
Prestwick1_000004
Prestwick2_000004
Prestwick3_000004
Ran-Metformin
Ratio-Metformin
Riomet
S2483_Selleck
SPBio_001928
STK011633
Sandoz Metformin
Siofor
T5895664
Teva-Metformin
UNII-9100L32L2N
ZINC12859773
cMAP_000016
metformin
metformin hydrochloride
13
ZincPhase 221547440-66-632051, 23994
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
14
Insulin GlarginePhase 2509160337-95-1
Synonyms:
 
Insulin Glargine (rDNA origin)
Insulin glargine recombinant
15
DecitabinePhase 12212353-33-5451668
Synonyms:
-Deoxycytidine
-azacytidine
2'-Deoxy-5-azacytidine
2353-33-5
4-Amino-1-(2-deoxy-beta-D-erythro-pentofuranosyl)-1,3,5-triazin-2(1H)-one
4-Amino-1-(2-deoxy-beta-D-erythro-pentofuranosyl)-s-triazin-2(1H)-one
4-Amino-1-(2-deoxy-beta-D-ribofuranosyl)-1,3,5-triazin-2(1H)-one
4-amino-1-(2-Deoxy-beta-D-erythro-pentofuranosyl)-S-triazin-2(1H)-one
4-amino-1-[(2R,4S,5R)-4-hydroxy-5-(hydroxymethyl)oxolan-2-yl]-1,3,5-triazin-2-one
5-AZAdC
5-Aza-2&prime
5-Aza-2'-deoxycytidine
5-Azadeoxycytidine
5-Deoxy-2&prime
5-aza-2'-deoxycytidine
5-aza-2-deoxycytidine
5-aza-CdR
5-aza-dC
5A2dc
A3656_SIGMA
AC-1135
AC1L9PS9
AzadC
 
Azadc
CHEBI:50131
CHEMBL1201129
CID451668
D03665
DB01262
Dacogen
Dacogen (TN)
Dacogen, 5-aza-2'-deoxycytidine,NSC 127716, Dacogen, DAC, Decitabine
Decitabine
Decitabine (USAN/INN)
Dezocitidine
E-7373
FT-0082622
MLS001332587
MLS001332588
MolMap_000063
NCGC_5ADOC
NSC-127716
NSC127716
S1200_Selleck
SBB066121
SMR000857076
TL8001944
16
BortezomibPhase 1783179324-69-7387447, 93860
Synonyms:
179324-69-7
AC1L8TUW
Bortezomib
Bortezomib (JAN/USAN/INN)
CHEBI:287372
CHEBI:41143
CHEMBL325041
CID387447
D03150
DB07475
DPBA
FT-0082488
I14-3268
LDP-341
LDP341
LPD 341
LPD-341
 
MLN341
MolPort-003-845-298
N-[(1R)-1-(DIHYDROXYBORYL)-3-METHYLBUTYL]-N-(PYRAZIN-2-YLCARBONYL)-L-PHENYLALANINAMIDE
N-[(1R)-1-(DIHYDROXYBORYL)-3-methylbutyl]-N-(pyrazin-2-ylcarbonyl)-L-phenylalaninamide
N-[(1R)-1-(dihydroxyboranyl)-3-methylbutyl]-Nalpha-(pyrazin-2-ylcarbonyl)-L-phenylalaninamide
NCI60_029010
NSC-681239
NSC681239
PROSCRIPT BORONIC ACID
PS-341
Pyz-Phe-boroLeu
S1013_Selleck
SBB071337
Velcade
Velcade (TN)
Velcade, MG-341, PS-341, Bortezomib
[(1R)-3-methyl-1-({(2S)-3-phenyl-2-[(pyrazin-2-ylcarbonyl)amino]propanoyl}amino)butyl]boronic acid
[(1R)-3-methyl-1-[[(2S)-3-phenyl-2-(pyrazine-2-carbonylamino)propanoyl]amino]butyl]boronic acid
bortezomib
17
AzacitidinePhase 1482320-67-29444
Synonyms:
2-(beta-D-Ribofuranosyl)-4-amino-1,3,5-triazin-2-one
320-67-2
4-Amino-1-(beta-D-ribofuranosyl)-1,3,5-triazin-2(1H)-one
4-Amino-1-beta-D-ribofuranosyl-1,3,5-traizin-2(1H)-one
4-Amino-1-beta-D-ribofuranosyl-1,3,5-triazine-2(1H)-one
4-Amino-1-beta-D-ribofuranosyl-S-triazin-2(1H)-one
4-Amino-1-beta-D-ribofuranosyl-s-triazin-2(1H)-one
4-Amino-1-beta-d-ribofuranosyl-1,3,5-triazin-2(1H)-one
4-amino-1-[(2R,3R,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)oxolan-2-yl]-1,3,5-triaz
4-amino-1-[(2R,3R,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)oxolan-2-yl]-1,3,5-triazin-2-one
4-amino-1-beta-L-ribofuranosyl-1,3,5-triazin-2(1H)-one
5 AZC
5 Azacytidine
5-AC
5-AZAC
5-AZCR
5-Azacytidine
5-aza-CR
5-azacitidine
5-azacytidine
5-azacytidine, Mylosar, Ladakamycin, Vidaza, Azacitidine
5AzaC
A 2385
A1287_SIGMA
A2385_SIGMA
AC1L1T1Y
Antibiotic U 18496
Azacitidina
Azacitidina [INN-Spanish]
Azacitidine
Azacitidine (JAN/USAN/INN)
Azacitidine [USAN:INN]
Azacitidinum
Azacitidinum [INN-Latin]
Azacytidine
BCBcMAP01_000083
BRN 0620461
BSPBio_003157
C11262
CCRIS 60
CHEBI:2038
CHEMBL1489
CID9444
CPD000857239
D001374
D03021
DB00928
DivK1c_000125
EINECS 206-280-2
EU-0100035
FT-0081170
HMS1921J22
HMS2092D08
HMS500G07
HSDB 6879
IDI1_000125
InChI=1/C8H12N4O5/c9-7-10-2-12(8(16)11-7)6-5(15)4(14)3(1-13)17-6/h2-6,13-15H,1H2,(H2,9,11,16)/t3-,4-,5-,6-/m1/s1
 
Jsp005945
KBio1_000125
KBio2_001742
KBio2_002556
KBio2_004310
KBio2_005124
KBio2_006878
KBio2_007692
KBio3_002657
KBio3_003034
KBioGR_001444
KBioGR_002556
KBioSS_001742
KBioSS_002565
LS-1189
Ladakamycin
Lopac0_000035
MLS001333121
MLS001333122
MLS002153249
MolMap_000062
Mylosar
NCGC00090851-01
NCGC00090851-02
NCGC00090851-03
NCGC00090851-04
NCGC00090851-08
NCGC00178234-01
NCI-C01569
NINDS_000125
NS-17
NSC 102816
NSC-102816
NSC102816
Pharmion Brand of Azacitidine
S1782_Selleck
SAM002264595
SMR000857239
SPBio_000892
SPECTRUM1502111
ST056940
Spectrum2_000786
Spectrum3_001509
Spectrum4_000922
Spectrum5_001166
Spectrum_001262
TL80073599
U 18496
U-18496
UNII-M801H13NRU
Vidaza
Vidaza (TN)
WR-183027
ZINC03861768
cMAP_000082
mylo sar
pyrimidine antimetabolite: inhibits nucleic acid replication
s-Triazin-2(1H)-one, 4-amino-1-beta-D-ribofuranosyl- (8CI)
wr 183027

Interventional clinical trials:

(show all 15)
idNameStatusNCT IDPhase
1An Extension Study Designed to Assess Effects of Losartan on Proteinuria in Pediatric Populations (MK-0954-326 AM1,EXT1(AM2))CompletedNCT00568178Phase 3
2Suberoylanilide Hydroxamic Acid (Vorinostat, MK-0683) Versus Placebo in Advanced Malignant Pleural Mesothelioma (0683-014 AM5, EXT1)CompletedNCT00128102Phase 3
3Follow-Up Study of Patients Previously Treated With Pimecrolimus Tablets for Atopic DermatitisCompletedNCT00098150Phase 2
4Dose Range Finding Study of MK-0941 in Patients With Type 2 Diabetes Mellitus on Insulin (MK-0941-007 AM3 EXT1 AM1)(TERMINATED)TerminatedNCT00767000Phase 2
5An Investigational Drug Study In Patients With COPD (Chronic Obstructive Pulmonary Disease) (MK-0873-005)TerminatedNCT00132730Phase 2
6An Extension Study Evaluating Safety and Efficacy of Proellex® In Women Who Have Previously Completed ZPU 003 ExtTerminatedNCT00958893Phase 2
7Phase 1 Study of Vorinostat and Bortezomib in Multiple Myeloma (MK-0683-015 EXT 1 (AM1))CompletedNCT00111813Phase 1
8Vorinostat (MK-0683) Phase I Study in Cutaneous T-Cell Lymphoma (CTCL) Patients (MK-0683-089 EXT1)CompletedNCT00771472Phase 1
9Safety and Tolerability Study for the Pneumococcal Conjugate Vaccine V114 Versus Prevnar™ (V114-001 EXT1)(COMPLETED)CompletedNCT01215175Phase 1
10Phase I Trial of Vorinostat (MK-0683, SAHA) in Combination With Decitabine in Patients With AML or MDS (MK-0683-055 EXT1)CompletedNCT00479232Phase 1
11The Health-Related Quality of Life in Patients With Hereditary Multiple ExostosesCompletedNCT00474448
12Exercise in Type 1 Diabetes MellitusCompletedNCT02075567
13Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
14Gene Mutations and Orthopaedic Symptoms Correlation of Multiple Hereditary Exostoses: Multicentre ProjectSuspendedNCT00474331
15Establishing the Genetic Profile of Multiple Hereditary Exostoses (HME) in Families of BCTerminatedNCT00473850

Search NIH Clinical Center for Hereditary Multiple Exostoses


Cochrane evidence based reviews: exostoses, multiple hereditary

Genetic Tests for Hereditary Multiple Exostoses

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Genetic tests related to Hereditary Multiple Exostoses:

id Genetic test Affiliating Genes
1 Multiple Congenital Exostosis25

Anatomical Context for Hereditary Multiple Exostoses

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MalaCards organs/tissues related to Hereditary Multiple Exostoses:

34
Bone, Spinal cord, T cells, B cells, Testes, Colon, Myeloid

Animal Models for Hereditary Multiple Exostoses or affiliated genes

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Publications for Hereditary Multiple Exostoses

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Articles related to Hereditary Multiple Exostoses:

(show top 50)    (show all 196)
idTitleAuthorsYear
1
Radiographic Analysis of the Pediatric Hip Patients With Hereditary Multiple Exostoses (HME). (27328120)
2016
2
Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses. (27616605)
2016
3
Is hip dysplasia a common deformity in skeletally mature patients with hereditary multiple exostoses? (26951643)
2016
4
Hereditary multiple exostoses: A case-report. (26856925)
2016
5
Multidetector computed tomography in the evaluation of hereditary multiple exostoses. (26781144)
2016
6
Joint pain in hereditary multiple exostoses. (25673003)
2015
7
Bilateral total hip arthroplasty in a young man with hereditary multiple exostoses. (25564594)
2015
8
Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. (24532482)
2014
9
Ankle pain in hereditary multiple exostoses: a case report. (25410013)
2014
10
Giant costal chondrosarcoma in a patient with hereditary multiple exostoses. (25441807)
2014
11
A mountain among molehills: removing an impinging large femoral neck osteochondroma in a man with hereditary multiple exostoses. (24408944)
2014
12
Coexistence of ankylosing spondylitis and hereditary multiple exostoses:coincidence or association. (24693299)
2014
13
Spontaneous pneumothoraces in hereditary multiple exostoses. (23471158)
2013
14
Glycosaminoglycans in the blood of hereditary multiple exostoses patients: Half reduction of heparan sulfate to chondroitin sulfate ratio and the possible diagnostic application. (23514715)
2013
15
Bilateral ischiofemoral impingement in a patient with hereditary multiple exostoses. (22865159)
2012
16
Hereditary multiple exostoses with spine involvement in a 4-year-old boy. (20425832)
2010
17
The molecular and cellular basis of exostosis formation in hereditary multiple exostoses. (18452536)
2008
18
Radiology for the surgeon: musculoskeletal case 42. Chondrosarcoma arising from an osteochondroma in a patient with hereditary multiple exostoses (osteochondromatosis). (18841209)
2008
19
EXT1 and EXT2 mutation identified by denaturing high performance liquid chromatograph in three families with hereditary multiple exostoses]. (18067075)
2007
20
Hereditary multiple exostoses with pseudoaneurysm. (17225974)
2007
21
Acute spinal cord compression in hereditary multiple exostoses. (16311838)
2006
22
Hereditary multiple exostoses of the ribs: an unusual cause of hemothorax and pericardial effusion. (16034772)
2005
23
A mutation IVS2+1G>A in EXT2 gene causes hereditary multiple exostoses]. (15079787)
2004
24
Tc-99m MDP imaging in hereditary multiple exostoses. (12819417)
2003
25
Association of autism in two patients with hereditary multiple exostoses caused by novel deletion mutations of EXT1. (12032595)
2002
26
Cervical osteochondroma as a cause of spinal cord compression in a patient with hereditary multiple exostoses: Computed tomography and magnetic resonance imaging findings. (12196244)
2002
27
Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity. (11391482)
2001
28
The hip in hereditary multiple exostoses. (11603538)
2001
29
Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses. (10713884)
2000
30
Hereditary multiple exostoses and acute myeloid leukemia: an unusual association. (11127404)
2000
31
Multiple peripheral nerve compressions related to malignantly transformed hereditary multiple exostoses. (10918272)
2000
32
Clonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromas. (9576285)
1998
33
Function of the upper extremities in hereditary multiple exostoses. (8609135)
1996
34
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). (7550340)
1995
35
A gene for hereditary multiple exostoses maps to chromosome 19p. (8081357)
1994
36
Nuclear medicine case of the day. Hereditary multiple exostoses. (1590162)
1992
37
Spastic disorder in patients with hereditary multiple exostoses, but without spinal cord compression: a new syndrome? (1640431)
1992
38
Radiographic findings in hereditary multiple exostoses and a new theory of the pathogenesis of exostoses. (2251004)
1990
39
Cervical cord compression and femoral neuropathy in hereditary multiple exostoses. (2351978)
1990
40
DNA polymorphism analysis of hereditary multiple exostoses in horses. (2569854)
1989
41
Hereditary multiple exostoses. (3046271)
1988
42
Lengthening the ulna in patients with hereditary multiple exostoses. (3488318)
1986
43
Osteochondroma with thoracic cord compression in hereditary multiple exostoses: a case report. (312508)
1979
44
Paraparesis in hereditary multiple exostoses: case report. (381970)
1979
45
Hereditary multiple exostoses: clinicopathologic features of a comparative study in horses and man. (314250)
1979
46
Hereditary multiple exostoses. Anthropometric, roentgenographic, and clinical aspects. (225330)
1979
47
Hereditary multiple exostoses with myelopathy. (315766)
1979
48
Bone scintigraphy in hereditary multiple exostoses. (414588)
1978
49
Hereditary multiple exostoses. (14949405)
1952
50
Chondrosarcoma of the ilium complicating hereditary multiple exostoses. (14858831)
1951

Variations for Hereditary Multiple Exostoses

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Expression for genes affiliated with Hereditary Multiple Exostoses

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Search GEO for disease gene expression data for Hereditary Multiple Exostoses.

Pathways for genes affiliated with Hereditary Multiple Exostoses

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Pathways related to Hereditary Multiple Exostoses according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.5EXT1, EXT2, EXTL1, EXTL3
2
Show member pathways
7.6EXT1, EXT2, EXTL1, EXTL3, GALNT5

GO Terms for genes affiliated with Hereditary Multiple Exostoses

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Cellular components related to Hereditary Multiple Exostoses according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Golgi membraneGO:00001399.2EXT1, EXT2, GALNT5
2endoplasmic reticulumGO:00057838.6EXT1, EXT2, EXTL3, POMGNT2
3endoplasmic reticulum membraneGO:00057897.8EXT1, EXT2, EXTL1, EXTL3, POMGNT2
4integral component of membraneGO:00160217.1EXT1, EXT2, EXTL1, EXTL3, GALNT5, POMGNT2

Biological processes related to Hereditary Multiple Exostoses according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1cellular polysaccharide biosynthetic processGO:003369210.2EXT1, EXT2
2heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic processGO:00150149.8EXT1, EXT2
3skeletal system developmentGO:00015019.3EXT1, EXTL1
4ossificationGO:00015039.3EXT1, EXT2
5protein glycosylationGO:00064869.1EXT1, EXT2, EXTL1
6heparan sulfate proteoglycan biosynthetic processGO:00150128.5EXT1, EXT2, EXTL1, EXTL3
7glycosaminoglycan biosynthetic processGO:00060248.1EXT1, EXT2, EXTL1, EXTL3, GALNT5

Molecular functions related to Hereditary Multiple Exostoses according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1heparan sulfate N-acetylglucosaminyltransferase activityGO:004232810.3EXT1, EXT2
2N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activityGO:005050910.3EXT1, EXT2
3glucuronosyltransferase activityGO:001502010.1EXT1, EXT2
4transferase activity, transferring glycosyl groupsGO:00167579.8EXT1, EXT2
5glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activityGO:00505089.7EXT1, EXT2, EXTL1
6acetylglucosaminyltransferase activityGO:00083759.7EXT1, EXT2, POMGNT2
7metal ion bindingGO:00468728.3EXT1, EXT2, EXTL3, GALNT5

Sources for Hereditary Multiple Exostoses

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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