MCID: HRD104
MIFTS: 43

Hereditary Multiple Osteochondromas malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Metabolic diseases, Fetal diseases

Aliases & Classifications for Hereditary Multiple Osteochondromas

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Sources:
23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 68UMLS
See all MalaCards sources

Aliases & Descriptions for Hereditary Multiple Osteochondromas:

Name: Hereditary Multiple Osteochondromas 23 48 24 25 27
Hereditary Multiple Exostoses 23 48 24 25 68
Multiple Cartilaginous Exostoses 23 24 25 54
Diaphyseal Aclasis 23 24 25
Multiple Osteochondromas 25 54
Bessel-Hagen Disease 25 54
Multiple Exostoses 48 27
Exostoses, Multiple Hereditary 25
Multiple Congenital Exostosis 25
 
Multiple Hereditary Exostoses 25
Hereditary Multiple Exostosis 48
Exostoses Multiple Hereditary 50
Multiple Osteochondromatosis 25
Osteochondromatosis 68
Familial Exostoses 25
Hme 24
Hmo 48

Characteristics:

Orphanet epidemiological data:

54
multiple cartilaginous exostoses:
Inheritance: Autosomal dominant; Prevalence: >1/1000,1-9/1000000 (United Kingdom),1-9/100000 (Netherlands),1-9/100000 (Europe),1-9/100000 (United States); Age of onset: Childhood

GeneReviews:

23
Penetrance: the penetrance is estimated to be 96% in females and 100% in males. most published instances of reduced penetrance have occurred in females. however, comprehensive skeletal radiographs have not been performed in most of these instances. ...


Classifications:



External Ids:

Orphanet54 ORPHA321
ICD10 via Orphanet31 Q78.6

Summaries for Hereditary Multiple Osteochondromas

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NIH Rare Diseases:48 Hereditary multiple osteochondromas (HMO) (formerly called hereditary multiple exostoses) is a genetic condition in which people develop multiple benign (noncancerous) bone tumors that are covered by cartilage (called osteochondromas). The number and location of osteochondromas varies greatly among affected individuals. These tumors are not present at birth, but almost all affected people develop multiple osteochondromas by the time they are 12 years old. Once the bones stop growing, the development of new osteochondromas also usually stops. Osteochondromas can cause abnormal growth of the arms, hands, and legs, which can lead to uneven limb lengths (limb length discrepancy) and short stature. These tumors may cause pain, limit joint movement, and exert pressure on nerves, blood vessels, and surrounding tissues. Osteochondromas are typically benign; however, researchers estimate that people with HMO have about a 1% lifetime risk of these tumors becoming a cancerous osteochondrosarcoma. HMO is caused by mutations in the EXT1 and EXT2 genes and is inherited in an autosomal dominant pattern. Last updated: 5/8/2015

MalaCards based summary: Hereditary Multiple Osteochondromas, also known as hereditary multiple exostoses, is related to trichorhinophalangeal syndrome, type ii and spasticity multiple exostoses, and has symptoms including abnormality of the tibia, abnormality of the humerus and abnormality of the teeth. An important gene associated with Hereditary Multiple Osteochondromas is EXT2 (Exostosin Glycosyltransferase 2), and among its related pathways is heparan sulfate biosynthesis. Affiliated tissues include bone, t cells and spinal cord.

Genetics Home Reference:25 Hereditary multiple osteochondromas is a condition in which people develop multiple benign (noncancerous) bone tumors called osteochondromas. The number of osteochondromas and the bones on which they are located vary greatly among affected individuals. The osteochondromas are not present at birth, but approximately 96 percent of affected people develop multiple osteochondromas by the time they are 12 years old. Osteochondromas typically form at the end of long bones and on flat bones such as the hip and shoulder blade.

GeneReviews for NBK1235

Related Diseases for Hereditary Multiple Osteochondromas

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



Diseases related to hereditary multiple osteochondromas

Symptoms & Phenotypes for Hereditary Multiple Osteochondromas

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Human phenotypes related to Hereditary Multiple Osteochondromas:

 64 54 (show all 37)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the tibia64 54 hallmark (90%) Very frequent (99-80%) HP:0002992
2 abnormality of the humerus64 54 hallmark (90%) Very frequent (99-80%) HP:0003063
3 abnormality of the teeth64 54 typical (50%) Frequent (79-30%) HP:0000164
4 anteverted nares64 54 typical (50%) Frequent (79-30%) HP:0000463
5 chondrocalcinosis64 typical (50%) HP:0000934
6 abnormality of the metaphyses64 54 typical (50%) Frequent (79-30%) HP:0000944
7 muscle weakness64 54 typical (50%) Frequent (79-30%) HP:0001324
8 bone pain64 54 typical (50%) Frequent (79-30%) HP:0002653
9 abnormality of the femur64 54 typical (50%) Frequent (79-30%) HP:0002823
10 genu valgum64 54 typical (50%) Frequent (79-30%) HP:0002857
11 micromelia64 54 typical (50%) Frequent (79-30%) HP:0002983
12 abnormality of the ulna64 typical (50%) HP:0002997
13 madelung deformity64 54 typical (50%) Frequent (79-30%) HP:0003067
14 short stature64 54 typical (50%) Frequent (79-30%) HP:0004322
15 aplasia/hypoplasia of the radius64 typical (50%) HP:0006501
16 cranial nerve paralysis64 54 typical (50%) Frequent (79-30%) HP:0006824
17 aseptic necrosis64 54 typical (50%) Frequent (79-30%) HP:0010885
18 exostoses64 54 typical (50%) Frequent (79-30%) HP:0100777
19 abnormality of the pericardium64 54 occasional (7.5%) Occasional (29-5%) HP:0001697
20 aneurysm64 54 occasional (7.5%) Occasional (29-5%) HP:0002617
21 abnormality of pelvic girdle bone morphology64 54 occasional (7.5%) Occasional (29-5%) HP:0002644
22 scoliosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002650
23 recurrent fractures64 54 occasional (7.5%) Occasional (29-5%) HP:0002757
24 osteoarthritis64 54 occasional (7.5%) Occasional (29-5%) HP:0002758
25 osteolysis64 54 occasional (7.5%) Occasional (29-5%) HP:0002797
26 elbow dislocation64 54 occasional (7.5%) Occasional (29-5%) HP:0003042
27 hemiplegia/hemiparesis64 54 occasional (7.5%) Occasional (29-5%) HP:0004374
28 abnormal pyramidal signs64 54 occasional (7.5%) Occasional (29-5%) HP:0007256
29 synostosis of joints64 54 occasional (7.5%) Occasional (29-5%) HP:0100240
30 failure to thrive54 Very frequent (99-80%)
31 neoplasm54 Occasional (29-5%)
32 multiple exostoses54 Very frequent (99-80%)
33 abnormality of the upper limb54 Frequent (79-30%)
34 radial bowing54 Frequent (79-30%)
35 hypoplasia of the ulna54 Frequent (79-30%)
36 pelvic exostoses54 Occasional (29-5%)
37 chondrosarcoma54 Occasional (29-5%)

Drugs & Therapeutics for Hereditary Multiple Osteochondromas

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

(show all 46)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EnalaprilatapprovedPhase 312076420-72-96917719
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
2
Vorinostatapproved, investigationalPhase 3, Phase 1242149647-78-95311
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
3
AmlodipineapprovedPhase 348688150-42-92162
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
Enalaprilapproved, vet_approvedPhase 312075847-73-35362032, 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
5
LosartanapprovedPhase 3282114798-26-43961
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
6
Maleic acidexperimentalPhase 3293110-16-7444266
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
7Vasodilator AgentsPhase 33438
8AngiotensinogenPhase 31161
9Histone Deacetylase InhibitorsPhase 3, Phase 1566
10Angiotensin II Type 1 Receptor BlockersPhase 31078
11
Angiotensin IIPhase 3116268521-88-0, 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
12VaccinesPhase 3, Phase 16428
13
protease inhibitorsPhase 35320
Synonyms:
 
protease inhibitors
14calcium channel blockersPhase 31940
15Anti-Arrhythmia AgentsPhase 32969
16Calcium, DietaryPhase 35525
17Antihypertensive AgentsPhase 34095
18HIV Protease InhibitorsPhase 35319
19Angiotensin Receptor AntagonistsPhase 31173
20Angiotensin-Converting Enzyme InhibitorsPhase 3711
21
Pimecrolimusapproved, investigationalPhase 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
22
Insulin GlargineapprovedPhase 2522160337-95-1
Synonyms:
 
Insulin Glargine (rDNA origin)
Insulin glargine recombinant
23
MetforminapprovedPhase 21746657-24-914219, 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
24
ZincapprovedPhase 222317440-66-632051, 23994
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
25Peripheral Nervous System AgentsPhase 222776
26insulinPhase 24524
27Insulin, Globin ZincPhase 24523
28Anti-Inflammatory AgentsPhase 210355
29Analgesics, Non-NarcoticPhase 26260
30AnalgesicsPhase 211287
31Immunosuppressive AgentsPhase 212770
32Anti-Inflammatory Agents, Non-SteroidalPhase 24295
33Antirheumatic AgentsPhase 210627
34Dermatologic AgentsPhase 25674
35Calcineurin InhibitorsPhase 21597
36Phosphodiesterase 4 InhibitorsPhase 239
37Phosphodiesterase InhibitorsPhase 21254
38Cholinergic AntagonistsPhase 21658
39MK 0873Phase 24
40Hypoglycemic AgentsPhase 25733
41
Decitabineapproved, investigationalPhase 12332353-33-5451668
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
42
Bortezomibapproved, investigationalPhase 1794179324-69-7387447, 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
43
Azacitidineapproved, investigationalPhase 1506320-67-29444
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
44Heptavalent Pneumococcal Conjugate VaccinePhase 1454
45AntimetabolitesPhase 111774
46Antimetabolites, AntineoplasticPhase 17171

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
3A Study to Evaluate the Safety, Immune Response, and Efficacy of Gardasil (V501, qHPV) in Mid-Adult Women (V501-019)CompletedNCT00090220Phase 3
4Follow-Up Study of Patients Previously Treated With Pimecrolimus Tablets for Atopic DermatitisCompletedNCT00098150Phase 2
5Dose Range Finding Study of MK-0941 in Patients With Type 2 Diabetes Mellitus on Insulin (MK-0941-007 AM3 EXT1 AM1)(TERMINATED)TerminatedNCT00767000Phase 2
6An Extension Study Evaluating Safety and Efficacy of Proellex® In Women Who Have Previously Completed ZPU 003 ExtTerminatedNCT00958893Phase 2
7An Investigational Drug Study In Patients With COPD (Chronic Obstructive Pulmonary Disease) (MK-0873-005)TerminatedNCT00132730Phase 2
8Phase 1 Study of Vorinostat and Bortezomib in Multiple Myeloma (MK-0683-015 EXT 1 (AM1))CompletedNCT00111813Phase 1
9Vorinostat (MK-0683) Phase I Study in Cutaneous T-Cell Lymphoma (CTCL) Patients (MK-0683-089 EXT1)CompletedNCT00771472Phase 1
10Safety and Tolerability Study for the Pneumococcal Conjugate Vaccine V114 Versus Prevnar™ (V114-001 EXT1)(COMPLETED)CompletedNCT01215175Phase 1
11Phase I Trial of Vorinostat (MK-0683, SAHA) in Combination With Decitabine in Patients With AML or MDS (MK-0683-055 EXT1)CompletedNCT00479232Phase 1
12The Health-Related Quality of Life in Patients With Hereditary Multiple ExostosesCompletedNCT00474448
13Exercise in Type 1 Diabetes MellitusCompletedNCT02075567
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 Osteochondromas

Genetic Tests for Hereditary Multiple Osteochondromas

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Genetic tests related to Hereditary Multiple Osteochondromas:

id Genetic test Affiliating Genes
1 Hereditary Multiple Osteochondromas27 24 EXT2
2 Multiple Exostoses27

Anatomical Context for Hereditary Multiple Osteochondromas

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MalaCards organs/tissues related to Hereditary Multiple Osteochondromas:

36
Bone, T cells, Spinal cord, Testes

Publications for Hereditary Multiple Osteochondromas

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Articles related to Hereditary Multiple Osteochondromas:

idTitleAuthorsYear
1
Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas. (28053536)
2017
2
Somatic loss of an EXT2 gene mutation during malignant progression in a patient with hereditary multiple osteochondromas. (25744876)
2015
3
Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas. (26690531)
2015
4
A patient with novel mutations causing MEN1 and hereditary multiple osteochondroma. (26515642)
2015
5
Spinal cord stimulation for treatment of the pain associated with hereditary multiple osteochondromas. (26316806)
2015
6
Disclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple Osteochondromas. (25990786)
2015
7
Identification of a rare case of intra-articular osteochondroma manifesting as three loose bodies in a patient with hereditary multiple osteochondromas: A case report. (26622573)
2015
8
Management of forearm deformities with ulnar shortening more than 15 mm caused by hereditary multiple osteochondromas. (23412166)
2013
9
An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas. (16283885)
2005
10
Hereditary Multiple Osteochondromas (20301413)
1993

Variations for Hereditary Multiple Osteochondromas

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Expression for genes affiliated with Hereditary Multiple Osteochondromas

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

Pathways for genes affiliated with Hereditary Multiple Osteochondromas

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.0EXT1, EXT2, EXTL1, EXTL2, EXTL3

GO Terms for genes affiliated with Hereditary Multiple Osteochondromas

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

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulumGO:00057838.8EXT1, EXT2, EXTL2, EXTL3, POMGNT2
2endoplasmic reticulum membraneGO:00057898.3EXT1, EXT2, EXTL1, EXTL2, EXTL3, POMGNT2
3integral component of membraneGO:00160217.5EXT1, EXT2, EXTL1, EXTL2, EXTL3, POMGNT2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1cellular polysaccharide biosynthetic processGO:003369210.4EXT1, EXT2
2heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic processGO:001501410.4EXT1, EXT2
3ossificationGO:000150310.4EXT1, EXT2
4protein glycosylationGO:00064869.9EXT1, EXT2, EXTL1
5skeletal system developmentGO:00015019.0EXT1, EXTL1, TRPS1
6glycosaminoglycan biosynthetic processGO:00060248.6EXT1, EXT2, EXTL1, EXTL2, EXTL3
7heparan sulfate proteoglycan biosynthetic processGO:00150128.6EXT1, EXT2, EXTL1, EXTL2, EXTL3

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1glucuronosyltransferase activityGO:001502010.4EXT1, EXT2
2heparan sulfate N-acetylglucosaminyltransferase activityGO:004232810.4EXT1, EXT2
3N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activityGO:005050910.4EXT1, EXT2
4acetylglucosaminyltransferase activityGO:000837510.0EXT1, EXT2, POMGNT2
5glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activityGO:00505089.9EXT1, EXT2, EXTL1
6transferase activity, transferring glycosyl groupsGO:00167579.8EXT1, EXT2
7glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activityGO:00018889.7EXTL2, EXTL3

Sources for Hereditary Multiple Osteochondromas

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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