MCID: MYT021
MIFTS: 53

Myotonic Dystrophy 1 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Muscle diseases

Aliases & Classifications for Myotonic Dystrophy 1

About this section
Sources:
65UMLS, 49OMIM, 11diseasecard, 67UniProtKB/Swiss-Prot, 10Disease Ontology, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 12DISEASES, 51Orphanet, 36MeSH, 47Novoseek, 27ICD10, 59SNOMED-CT, 37MESH via Orphanet, 66UMLS via Orphanet, 28ICD10 via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Myotonic Dystrophy 1:

Name: Myotonic Dystrophy 1 49 11 67
Myotonic Dystrophy Type 1 10 68 21 45 22 12 51
Dm1 68 45 22 51 67
Steinert Disease 10 45 51 67
Congenital Myotonic Dystrophy 10 45 65
Steinert Myotonic Dystrophy 45 51 67
Steinert's Disease 21 45 22
Dystrophia Myotonica 10 67
Myotonic Dystrophy 36 65
 
Myotonic Muscular Dystrophy Type 1 22
Myotonic Dystrophy of Steinert 10
Myotonic Dystrophy Congenital 47
Dystrophia Myotonica Type 1 45
Major Affective Disorder 1 65
Dystrophia Myotonica 1 67
Md1 51
Dm 67

Characteristics:

Orphanet epidemiological data:

51
myotonic dystrophy type 1:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Adult,Neonatal; Age of death: any age

HPO:

61
myotonic dystrophy 1:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 160900
Disease Ontology10 DOID:11722
ICD1027 G71.11
MeSH36 D009223
Orphanet51 273
MESH via Orphanet37 C538008
UMLS via Orphanet66 C2931688
ICD10 via Orphanet28 G71.1
UMLS65 C0027126, C0410226, C1852197

Summaries for Myotonic Dystrophy 1

About this section
OMIM:49 Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts,... (160900) more...

MalaCards based summary: Myotonic Dystrophy 1, also known as myotonic dystrophy type 1, is related to myotonic dystrophy 2 and dermatomyositis, and has symptoms including arrhythmia, emg abnormality and skeletal muscle atrophy. An important gene associated with Myotonic Dystrophy 1 is DMPK (Dystrophia Myotonica Protein Kinase), and among its related pathways are Aldosterone-regulated sodium reabsorption and miRs in Muscle Cell Differentiation. Affiliated tissues include skeletal muscle, breast and heart, and related mouse phenotype muscle.

Disease Ontology:10 A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has physical basis in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.

NIH Rare Diseases:45 Myotonic dystrophy type 1, one of the two types of myotonic dystrophy, is an inherited type of muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, pancreas).  myotonic dystrophy type 1 has been categorized into three somewhat overlapping subtypes: mild, classic, and congenital (present at birth). symptoms of the mild form are the least severe with a normal life span. the classic form is characterized by muscle weakness and wasting, prolonged muscle tensing (myotonia), cataract, and often abnormal heart function; adults may become physically disabled and may have a shortened life span. the congenital form is characterized by severe generalized weakeness at birth (hypotonia), often causing complications with breathing and early death. the condition is inherited in an autosomal dominant pattern and is caused by mutations in the dmpk gene. last updated: 5/11/2011

UniProtKB/Swiss-Prot:67 Dystrophia myotonica 1: A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias.

GeneReviews summary for NBK1165

Related Diseases for Myotonic Dystrophy 1

About this section

Diseases in the Myotonic Dystrophy family:

Myotonic Dystrophy 2 myotonic dystrophy 1

Diseases related to Myotonic Dystrophy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1myotonic dystrophy 232.6CLCN1, CNBP, DMPK, MBNL1
2dermatomyositis11.6
3epidermolysis bullosa simplex, dowling-meara type11.6
4diaphyseal medullary stenosis with malignant fibrous histiocytoma11.3
5childhood type dermatomyositis11.3
6diffuse mesangial sclerosis11.3
7neonatal dermatomyositis11.3
8rheumatoid arthritis10.8
9osteoarthritis10.7
10myotonic dystrophy10.7
11diabetes mellitus, insulin-dependent10.6
12colorectal cancer10.5
13hepatitis c virus10.4
14maturity-onset diabetes of the young10.4
15diabetes insipidus10.4
16glomerulonephritis10.3
17graves' disease10.3
18lymphoma10.3
19h. pylori infection10.2
20muscular dystrophy-dystroglycanopathy , type c, 510.2
21duchenne muscular dystrophy10.2
22calpainopathy10.2
23pulmonary emphysema10.2
24influenza10.2
25wolfram syndrome10.2
26denys-drash syndrome10.2
27cystoisosporiasis10.0CLCN1, DMPK
28peters anomaly10.0
29breast cancer10.0
30alcohol dependence10.0
31allergic rhinitis10.0
32chronic myelomonocytic leukemia10.0
33hepatitis10.0
34leukemia10.0
35pericardial effusion10.0
36hepatitis a10.0
37mesenchymoma10.0
38rhinitis10.0
39pneumonia10.0
40optic nerve sheath meningioma10.0
41malignant mesenchymoma10.0
42neuronitis10.0
43whiplash10.0
44paramyotonia congenita9.9CLCN1, DMPK
45kummell's disease9.7CLCN1, DMPK, MBNL1
46neurological consequences of cytomegalovirus infection9.5CLCN1, CNBP, DMPK, MBNL1
47muscular dystrophy, duchenne and becker types8.5ATP2A1, CELF1, CLCN1, CNBP, DMPK, MBNL1
48hypokalemia8.2ATP2A1, CELF1, CLCN1, CNBP, DMPK, MBNL1
49cerebrooculofacioskeletal syndrome 47.3ATP2A1, CELF1, CLCN1, CNBP, DHCR7, DMPK

Graphical network of the top 20 diseases related to Myotonic Dystrophy 1:



Diseases related to myotonic dystrophy 1

Symptoms for Myotonic Dystrophy 1

About this section

Symptoms by clinical synopsis from OMIM:

160900

Clinical features from OMIM:

160900

Symptoms:

 51 (show all 23)
  • expressionless face/amimia
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • hypertonia/spasticity/rigidity/stiffness
  • myotonia
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • abnormal emg/electromyogram/electropmyography
  • autosomal dominant inheritance
  • facial palsy
  • cataract/lens opacification
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • congenital cardiac anomaly/malformation/cardiopathy
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • anomalies of the endocrine glands
  • hypotonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • strabismus/squint
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • inguinal/inguinoscrotal/crural hernia
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hydrocephaly
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana

HPO human phenotypes related to Myotonic Dystrophy 1:

(show all 41)
id Description Frequency HPO Source Accession
1 arrhythmia hallmark (90%) HP:0011675
2 emg abnormality hallmark (90%) HP:0003457
3 skeletal muscle atrophy hallmark (90%) HP:0003202
4 myotonia hallmark (90%) HP:0002486
5 hypertonia hallmark (90%) HP:0001276
6 mask-like facies hallmark (90%) HP:0000298
7 cognitive impairment typical (50%) HP:0100543
8 facial palsy typical (50%) HP:0010628
9 respiratory insufficiency typical (50%) HP:0002093
10 muscular hypotonia typical (50%) HP:0001252
11 abnormality of the endocrine system typical (50%) HP:0000818
12 cataract typical (50%) HP:0000518
13 non-midline cleft lip occasional (7.5%) HP:0100335
14 abnormal hair quantity occasional (7.5%) HP:0011362
15 abnormality of the upper urinary tract occasional (7.5%) HP:0010935
16 hernia of the abdominal wall occasional (7.5%) HP:0004299
17 abnormality of the hip bone occasional (7.5%) HP:0003272
18 strabismus occasional (7.5%) HP:0000486
19 hydrocephalus occasional (7.5%) HP:0000238
20 cryptorchidism occasional (7.5%) HP:0000028
21 atrial flutter 4% HP:0004749
22 atrial fibrillation very rare (1%) HP:0005110
23 first degree atrioventricular block HP:0011705
24 intellectual disability, severe HP:0010864
25 feeding difficulties in infancy HP:0008872
26 obsessive-compulsive trait HP:0008770
27 intellectual disability, progressive HP:0006887
28 myotonia HP:0002486
29 frontal balding HP:0002292
30 excessive daytime sleepiness HP:0002189
31 respiratory distress HP:0002098
32 cerebral atrophy HP:0002059
33 dysphagia HP:0002015
34 polyhydramnios HP:0001561
35 decreased fetal movement HP:0001558
36 facial diplegia HP:0001349
37 muscular hypotonia HP:0001252
38 cholelithiasis HP:0001081
39 cataract HP:0000518
40 hypogonadism HP:0000135
41 testicular atrophy HP:0000029

Drugs & Therapeutics for Myotonic Dystrophy 1

About this section

Drugs for Myotonic Dystrophy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50)    (show all 123)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Trastuzumabapproved, investigationalPhase 3, Phase 2, Phase 1726180288-69-19903
Synonyms:
180288-69-1
Anti HER2
Anti-erbB2 Monoclonal Antibody
D03257
HER2 Monoclonal Antibody
Herceptin
 
Herceptin (TN)
Ig gamma-1 chain C region
Trastuzumab
Trastuzumab (INN)
Trastuzumab (genetical recombination)
Trastuzumab (genetical recombination) (JAN)
trastuzumab
2
ado-trastuzumab emtansineapprovedPhase 3, Phase 2, Phase 1621018448-65-1
Synonyms:
Kadcyla
 
Trastuzumab-DM1
trastuzumab emtansine
trastuzumab-MCC-DM1
3
FesoterodineapprovedPhase 360286930-03-86918558
Synonyms:
FESO
 
Fesoterodine
Fesoterodine Fumarate
Toviaz
4
Methylphenidateapproved, investigationalPhase 2, Phase 3364113-45-14158
Synonyms:
.alpha.-Phenyl-2-piperidineacetic acid methyl ester
113-45-1
2-Piperidineacetic acid, .alpha.-phenyl-, methyl ester
2-Piperidineacetic acid, alpha-phenyl-, methyl ester
298-59-9 (hydrochloride)
4311/B Ciba
AC1L1HJM
C 4311
C07196
CHEBI:6887
CHEMBL796
CID4158
Calocain
Centedein
Centedrin
Centedrine
Centredin
Concerta
D-Methylphenidate HCl
D04999
DB00422
DB06701
DEA No. 1724
Daytrana
Daytrana (TN)
EINECS 204-028-6
Focalin
Focalin XR
HSDB 3126
L001307
LS-565
METHYLPHENIDATE (SEE ALSO: METHYLPHENIDATE HYDROCHLORIDE, CAS 298-59-9, NTPNO 10266-R)
MPH
Meridil
Metadate
Metadate CD
Metadate ER
MethyPatch
Methyl (2-phenyl-2-(2-piperidyl)acetate)
Methyl alpha-phenyl-alpha-(2-piperidyl)acetate
Methyl alpha-phenyl-alpha-2-piperidinylacetate
Methyl phenidate
Methyl phenidyl acetate
 
Methyl phenidylacetate
Methylfenidan
Methylin
Methylin ER
Methylofenidan
Methylphen
Methylphenidan
Methylphenidate
Methylphenidate (USAN/INN)
Methylphenidate HCl
Methylphenidate Hydrochloride
Methylphenidate [INN:BAN]
Methylphenidate hydrochloride
Methylphenidatum
Methylphenidatum [INN-Latin]
Methylphenidylacetate hydrochloride
Methypatch
Metilfenidat hydrochloride
Metilfenidato
Metilfenidato [INN-Spanish]
Metilfenidato [Italian]
MolPort-001-779-620
NCI-C56280
PMS-Methylphenidate
Phenidylate
Plimasine
Quillivant XR
Riphenidate
Ritalin
Ritalin LA
Ritalin SR
Ritalin hydrochloride
Ritalin-SR
Ritaline
Ritcher Works
Ritcher works
Tsentedrin
UNII-207ZZ9QZ49
alpha-Phenyl-2-piperidineacetic acid methyl ester
alpha-Phenyl-alpha-(2-piperidyl)acetic acid methyl ester
d-methylphenidate HCl
methyl 2-phenyl-2-piperidin-2-ylacetate
methyl phenyl(piperidin-2-yl)acetate
methylphenidate
nchembio.2007.55-comp28
5
PaclitaxelapprovedPhase 3, Phase 2, Phase 1262133069-62-436314
Synonyms:
(2AR-(2aalpha,4beta,4abeta,6beta,9alpha(alpha r*,betas*),11alpha,12alpha,12balpha))-beta-(benzoylamino)-alpha-hydroxybenzenepropanoic acid 6,12b-bis(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,11-dihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca(3,4)benz(1,2-b)oxet-9-yl ester
12-benzoate, 9-ester with (2R,3S)-N-benzoyl-3-phenylisoserine
157069-30-2
33069-62-4
5beta,20-Epoxy-1,2-alpha,4,7beta,10beta,13alpha-hexahydroxytax-11-en-9-one 4,10-diacetate 2-benzoate 13-ester with (2R,3S)-N-benzoyl-3-phenylisoserine
7,11-Methano-1H-cyclodeca[3,4]benz[1,2-b]oxete, benzenepropanoic acid deriv.
7,11-Methano-5H-cyclodeca[3,4]benz[1,2-b]oxete,benzenepropanoic acid deriv.
7-Epi-Paclitaxel
7-Epi-Taxol
7-Epipaclitaxel
7-Epitaxol
7-epi-Paclitaxel
7-epi-Taxol
AB00513812
ABI 007
ABI-007
ABI007
AC-675
AC1L1IOG
AC1L1VJI
AC1L9AVF
ACon1_002231
ANX-513
Abraxane
Abraxane (TN)
Abraxane I.V. Suspension
Abraxis BioScience brand of albumin-bound paclitaxel
Ambotz33069-62-4
Anzatax
Asotax
BIDD:PXR0046
BMS 181339-01
BMS-181339
BMS-181339-01
BPBio1_000320
BRD-A23723433-001-01-2
BRD-A28746609-001-04-0
BRD-K62008436-001-03-1
BSPBio_000290
BSPBio_001152
BSPBio_002614
Bio-0076
Bio1_000362
Bio1_000851
Bio1_001340
Bio2_000416
Bio2_000896
Bristaxol
C07394
C466458
C47H51NO14
CCRIS 8143
CHEBI:103439
CHEBI:45863
CHEMBL100910
CHEMBL418410
CHEMBL48
CID36314
CID441276
CID4666
CID6713921
CID6915727
CPD-8718
Capxol
D00491
DB01229
DHP-107
DHP-208
DRG-0190
DTS-301
DivK1c_000441
EU-0101201
Ebetaxel
EmPAC
Epitaxol
Genaxol
Genetaxyl
Genexol
Genexol-PM
HMS1362J13
HMS1568O12
HMS1792J13
HMS1922K08
HMS1990J13
HMS2090D07
HMS2093K15
HMS501G03
HSDB 6839
I06-0014
IDI1_000441
IDI1_002171
Intaxel
KBio1_000441
KBio2_000492
KBio2_002016
KBio2_002509
KBio2_003060
KBio2_004584
KBio2_005077
KBio2_005628
KBio2_007152
KBio2_007645
KBio3_000903
KBio3_000904
KBio3_001834
KBio3_002987
KBioGR_000492
KBioGR_001893
 
KBioGR_002509
KBioSS_000492
KBioSS_002016
KBioSS_002517
LMPR0104390001
LS-31070
LipoPac
Lopac0_001201
MBT 0206
MEGxp0_001940
MLS000863266
MLS001077297
MLS002154218
MLS002172439
MLS002695976
MPI-5018
Micellar Paclitaxel
Mitotax
MolPort-001-742-627
MolPort-003-665-783
MolPort-003-932-365
NCGC00024995-02
NCGC00024995-03
NCGC00024995-04
NCGC00024995-05
NCGC00024995-06
NCGC00024995-07
NCGC00164367-01
NCGC00164367-02
NCGC00164367-03
NCI60_000601
NINDS_000441
NK 105
NP-010981
NSC 125973
NSC-125973
NSC125973
NSC358882
Nanotaxel
Neuro_000060
Nova-12005
OAS-PAC-100
OncoGel
Onxal
Onxol
Onxol, Taxol, Nov-Onxol, Paclitaxel
P1632
Paclical
Pacligel
Paclitaxel
Paclitaxel (JAN/USP)
Paclitaxel (JAN/USP/INN)
Paclitaxel (Taxol)
Paclitaxel [USAN:INN:BAN]
Paxceed
Paxene
Paxoral
Plaxicel
Praxel
Prestwick0_000155
Prestwick1_000155
Prestwick2_000155
Prestwick3_000155
Probes2_000350
QW 8184
S-8184 Paclitaxel Injectable Emulsion
S1150_Selleck
SDCCGMLS-0066823.P001
SDP-013
SMP1_000228
SMR000394086
SMR000857385
SPBio_000943
SPBio_002229
SPECTRUM1503908
ST50306996
Spectrum2_000872
Spectrum3_001057
Spectrum4_001197
Spectrum5_001491
Spectrum_001536
T 7402
T1912_SIGMA
T7191_SIGMA
T7402_SIGMA
TA1
TAXOL (TN)
TAXOL, 10-EPI,
TXL
TaxAlbin
Taxol
Taxol A
Taxol Konzentrat
Taxol.RTM. (Registered Trademark)
UNII-P88XT4IS4D
UPCMLD-DP108:001
UPCMLD-DP108:002
Vascular Wrap
Xorane
Yewtaxan
abi-007
albumin-bound paclitaxel
cMAP_000068
nchembio.188-comp1
nchembio.2007.34-comp9
nchembio.215-comp9
nchembio853-comp6
paclitaxel
weekly paclitaxel
6
DopamineapprovedPhase 2, Phase 3308462-31-7, 51-61-6681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine Hcl
Dopamine Hydrochloride
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
 
KBio1_000780
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
7
Lamotrigineapproved, investigationalPhase 317984057-84-13878
Synonyms:
3,5-Diamino-6-(2,3-dichlorophenyl)-1,2,4-triazine
3,5-Diamino-6-(2,3-dichlorophenyl)-as-triazine
3,5-diamino-6-(2,3-dichlorophenyl)- as -triazine
6-(2,3-Dichlorophenyl)-1,2,4-triazine-3,5-diyldiamine
6-(2,3-dichlorophenyl)-1,2,4-triazine-3,5-diamine
84057-84-1
AC-10298
AC1L1GWT
BIDD:GT0794
BW 430C
BW-430C
Bio-0056
C047781
CHEBI:138727
CHEBI:6367
CHEMBL741
CID3878
CPD000058464
Crisomet
D00354
DB00555
Desitin Brand of Lamotrigine
EINECS 281-901-8
EU-0100688
EUR-1048
Faes Brand of Lamotrigine
GI 267119X
GW 273293
Glaxo Wellcome Brand of Lamotrigine
GlaxoSmithKline Brand of Lamotrigine
HMS2051C10
HMS2089M08
HMS2093P21
HSDB 7526
Juste Brand of Lamotrigine
L 3791
L3791_SIGMA
LS-155249
 
Labileno
Lamictal
Lamictal (TN)
Lamictal CD
Lamictal Cd
Lamictal ODT
Lamictal XR
Lamictin
Lamiktal
Lamitor
Lamotrigina
Lamotrigina [Spanish]
Lamotrigine
Lamotrigine (JAN/USAN/INN)
Lamotrigine [USAN:INN:BAN]
Lamotriginum
Lamotriginum [Latin]
Lopac-L-3791
Lopac0_000688
MLS000069685
MLS000759486
MLS001077325
MolPort-003-666-744
NCGC00015605-01
NCGC00015605-02
NCGC00015605-06
NCGC00015605-08
NCGC00022936-02
NCGC00022936-04
NCGC00022936-05
NSC746307
SAM001246697
SMP2_000303
SMR000058464
STK628377
Tocris-1611
UNII-U3H27498KS
ZINC00013156
lamotrigine
8
PertuzumabapprovedPhase 3, Phase 2, Phase 1109145040-37-5, 380610-27-52540
Synonyms:
2C4 Antibody
380610-27-5
D05446
Immunoglobulin G1, anti-(human v (receptor)) (human-mouse monoclonal 2C4 heavy chain), disulfide with human-mouse monoclonal 2C4 kappa-chain, dimer
LS-185920
MOAB 2C4
MOAB2C4
Monoclonal Antibody 2C4
 
Omnitarg
Perjeta
Pertuzumab
Pertuzumab (USAN/INN)
Pertuzumab (genetical recombination)
Pertuzumab (genetical recombination) (JAN)
pertuzumab
rhuMAb 2C4
rhuMAb-2C4
9
Capecitabineapproved, investigationalPhase 3, Phase 21220154361-50-960953
Synonyms:
(1-(5-Deoxy-beta-D-ribofuranosyl)-5-fluoro-1,2-dihydro-2-oxo-4-pyrimidinyl)-carbamic acid pentyl ester
154361-50-9
158798-73-3
5'-Deoxy-5-fluoro-N-((pentyloxy)carbonyl)cytidine
5'-deoxy-5-fluoro-N-[(pentyloxy)carbonyl]cytidine
AC1L1U83
AC1Q4KU8
Ambap154361-50-9
C110904
C12650
C15H22FN3O6
CAPE
CAPECITABINE
CHEBI:31348
CHEMBL1773
CID60953
Capecitabin
Capecitabina
Capecitabine
Capecitabine (JAN/USAN/INN)
Capecitabine [USAN]
Capecitabinum
Capecitibine
Capiibine
Carbamic acid, (1-(5-deoxy-beta-D-ribofuranosyl)-5-fluoro-1,2-dihydro-2-oxo-4-pyrimidinyl)-, pentyl ester
Caxeta
 
D01223
DB01101
FT-0082472
HSDB 7656
LS-59070
MolPort-005-938-254
N(4)-Pentyloxycarbonyl-5'-deoxy-5-fluorocytidine
Pentyl 1-(5-deoxy-beta-D-ribofuranosyl)-5-fluoro-1,2-dihydro-2-oxo-4-pyrimidinecarbamate
Pentyl [1-(5-deoxy-beta-D-ribofuranosyl)-5-fluoro-2-oxo-1,2-dihydropyrimidin-4-yl]carbamate
R-340
R340
RG-340
Ro 09-1978
Ro 09-1978/000
Ro-09-1978
Ro-09-1978/000
S1156_Selleck
UNII-6804DJ8Z9U
Xabine
Xeloda
Xeloda (TN)
Xeloda, Captabin, Capecitabine
ZINC03806413
capecitabina
capecitabine
capecitabinum
pentyl N-[1-[(2R,3R,4S,5R)-3,4-dihydroxy-5-methyloxolan-2-yl]-5-fluoro-2-oxopyrimidin-4-yl]carbamate
10
Vinorelbineapproved, investigationalPhase 3, Phase 2, Phase 135271486-22-160780, 44424639
Synonyms:
5'-Noranhydrovinblastine
71486-22-1
AC1L1KVK
AC1L1TWQ
AC1L75Q4
ANX-530
Ambap71486-22-1
BIDD:PXR0186
C45H54N4O8
CHEBI:480999
CHEMBL607994
CID355119
CID5311497
CID5672
CID60780
CID6426842
D08680
DB00361
Eunades
Exelbine
HMS2090E13
HSDB 7665
I06-0084
I06-0085
KW 2307
KW 2307 base
KW-2307
 
LS-97533
MolPort-006-822-661
MolPort-006-823-869
NCGC00165966-02
NVB
Navelbine
Navelbine (TN)
Navelbine Base
Navelbine base
Nor-5'-anhydrovinblastine
SDP-012
UNII-Q6C979R91Y
Vinorelbin
Vinorelbina
Vinorelbina [Spanish]
Vinorelbine
Vinorelbine (INN)
Vinorelbine Bitartrate
Vinorelbine Ditartarate
Vinorelbine Ditartrate
Vinorelbine Tartrate
Vinorelbine [INN:BAN]
Vinorelbine ditartrate
Vinorelbine tartrate
Vinorelbinum
Vinorelbinum [Latin]
methyl (2b,3b,4b,5a,12b,19a)-4-(acetyloxy)-15-[(6R,8S)-4-ethyl-8-(methoxycarbonyl)-1,3,6,7,8,9-hexahydro-2,6-methanoazecino[4,3-b]indol-8-yl]-3-hydroxy-16-methoxy-1-methyl-6,7-didehydroaspidospermidine-3-carboxylate
methyl (2beta,3beta,4beta,5alpha,12beta,19alpha)-4-acetoxy-15-[(6R,8S)-4-ethyl-8-(methoxycarbonyl)-1,3,6,7,8,9-hexahydro-2,6-methanoazecino[4,3-b]indol-8-yl]-3-hydroxy-16-methoxy-1-methyl-6,7-didehydroaspidospermidine-3-carboxylate
vinorelbine
11
TamoxifenapprovedPhase 3, Phase 235010540-29-12733526
Synonyms:
(Z)-1-(p-Dimethylaminoethoxyphenyl)-1,2-diphenyl-1-butene
(Z)-2-(4-(1,2-Diphenyl-1-butenyl)phenoxy)-N,N-dimethylethanamine
(Z)-2-(4-(1,2-diphenylbut-1-enyl)phenoxy)-N,N-dimethylethanamine
(Z)-2-(Para-(1,2-diphenyl-1-butenyl)phenoxy)-N,N-dimethylamine
(Z)-2-(para-(1,2-Diphenyl-1-butenyl)phenoxy)-N,N-dimethylamine (IUPAC)
(Z)-2-[4-(1,2)-DIPHENYL-1-BUTENYL)-PHENOXY]-N,N-DIMETHYLETHANAMINE
(Z)-2-[p-(1,2-Diphenyl-1-butenyl)phenoxy]-N,N-dimethylethylamine
,citrate
1-P-beta-Dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene
1-Para-beta-dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene
1-p-.beta.-Dimethylamino-ethoxyphenyl-trans-1,2-diphenylbut-1-ene
1-p-beta-Dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene
1-para-beta-Dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene
10540-29-1
1ya4
2-[4-[(Z)-1,2-diphenylbut-1-enyl]phenoxy]-N,N-dimethylethanamine
2-{4-[(1Z)-1,2-diphenylbut-1-en-1-yl]phenoxy}-N,N-dimethylethanamine
54965-24-1 (citrate)
AC1MBZ3R
Apo-Tamox
Apo-tamox
BIDD:ER0008
BIDD:GT0009
BIDD:PXR0003
BPBio1_000278
BRD-K93754473-001-02-9
BRD-K93754473-048-05-3
BSPBio_000252
BSPBio_001150
BSPBio_001982
C07108
C26H29NO
CCRIS 3275
CHEBI:41774
CHEMBL83
CID2733526
Citofen
Crisafeno
D08559
DB00675
Diemon
EINECS 234-118-0
Gen-Tamoxifen
Gen-tamoxifen
HMS1362J11
HMS1792J11
HMS1990J11
HMS2090N08
HSDB 6782
ICI 47699
ICI-46,474
ICI-47699
IDI1_000258
IDI1_002170
Istubol
Kessar
L024126
LS-393
Lopac0_001203
MLS001332535
MLS001332536
MolPort-003-850-384
 
NCGC00024928-01
NCGC00024928-03
NCGC00024928-04
NCGC00024928-05
NCGC00024928-07
NCGC00024928-08
NCGC00024928-09
NCGC00024928-12
NSC727681
Noltam
Nolvadex
Nolvadex-D
Nourytam
Novaldex
Novo-Tamoxifen
Oncomox
PMS-Tamoxifen
Pms-Tamoxifen
Prestwick2_000146
Prestwick3_000146
QTL1_000079
Retaxim
SMR000059172
ST50511785
Soltamox
Spectrum5_001417
Spectrum5_002043
T5648_SIGMA
TAMOXIFEN (TAMOXIFEN CITRATE (54965-24-1))
TRANS FORM OF TAMOXIFEN
Tamizam
Tamofen
Tamone
Tamoplex (TN)
Tamoxasta
Tamoxen
Tamoxifen
Tamoxifen (INN)
Tamoxifen (TN)
Tamoxifen (Z)
Tamoxifen Citrate
Tamoxifen [INN:BAN]
Tamoxifen and its salts
Tamoxifene
Tamoxifene [INN-French]
Tamoxifeno
Tamoxifeno [INN-Spanish]
Tamoxifenum
Tamoxifenum [INN-Latin]
Tamoxifène
Tocris-0999
Tomaxithen
Trans-Tamoxifen
UNII-094ZI81Y45
UPCMLD-DP027
Valodex
Zemide
cMAP_000044
nchembio.140-comp7
nchembio.76-comp1
nchembio732-comp3
tamoxifen
trans-2-[4-(1,2-Diphenyl-1-butenyl)phenoxy]-N,N-dimethylethylamine
trans-Tamoxifen
12
Docetaxelapproved, investigational, Approved May 1996Phase 3, Phase 2, Phase 11844114977-28-5148124, 9877265
Synonyms:
(2aR,4S,4aS,6R,9S,11S,12S,12aR,12bS)-12b-(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,6,11-trihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca[3,4]benz[1,2-b]oxet-9-yl (aR,bS)-b-[[(1,1-dimethylethoxy)carbonyl]amino]-a-hydroxybenzenepropanoate
(2alpha,5beta,7beta,10beta,13alpha)-4-(acetyloxy)-13-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7,10-trihydroxy-9-oxo-5,20-epoxytax-11-en-2-yl benzoate
01885_FLUKA
114977-28-5
4-(Acetyloxy)-13alpha-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7beta,10beta-trihydroxy-9-oxo-5beta,20-epoxytax-11-en-2alpha-yl benzoate
4-(acetyloxy)-13alpha-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7beta,10beta-trihydroxy-9-oxo-5beta,20-epoxytax-11-en-2alpha-yl benzoate
AC-383
AC1L3WHJ
ANX-514
BIND-014
C11231
CHEBI:4672
CHEMBL92
CID148124
D07866
DB01248
Docefrez
Docetaxel
Docetaxel (INN)
Docetaxel anhydrous
Docetaxel, Trihydrate
EmDOC
 
HMS2089K08
InChI=1/C43H53NO14/c1-22-26(55-37(51)32(48)30(24-15-11-9-12-16-24)44-38(52)58-39(3,4)5)20-43(53)35(56-36(50)25-17-13-10-14-18-25)33-41(8,34(49)31(47)29(22)40(43,6)7)27(46)19-28-42(33,21-54-28)57-23(2)45/h9-18,26-28,30-33,35,46-48,53H,19-21H2,1-8H3,(H,44,5
MolPort-003-847-005
N-Debenzoyl-N-(tert-butoxycarbonyl)-10-deacetylpaclitaxel
N-Debenzoyl-N-(tert-butoxycarbonyl)-10-deacetyltaxol
N-debenzoyl-N-(tert-butoxycarbonyl)-10-deacetylpaclitaxel
N-debenzoyl-N-(tert-butoxycarbonyl)-10-deacetyltaxol
N-debenzoyl-N-Boc-10-deacetyl taxol
NSC-628503
PSMA-targeted docetaxel nanoparticle
RP-56976
SDP-014
TXL
Taxotere
Taxotere (TN)
Taxotere(R)
XRP-6976L
docetaxel
docetaxel 114977-28-5
nchembio.188-comp8
nchembio.2007.34-comp7
nchembio.573-comp11
nchembio853-comp8
13
Lapatinibapproved, investigational, Approved March 2007Phase 3, Phase 1, Phase 2294231277-92-2, 388082-78-8208908, 9941095
Synonyms:
1xkk
231277-92-2
388082-78-8
4-[[3-Chloro-4-(3-fluorobenzyloxy)phenyl]amino]-6-[5-[[(2-methanesulfonylethyl)amino]methyl]furan-2-yl]quinazoline
AB1004631
AC-1314
AC1L4LL4
AKOS005145766
CHEBI:49603
CHEMBL1201179
CHEMBL554
CID11557040
CID208908
D04024
D08108
DB01259
DB02584
EN002712
FMM
GSK 572016
GSK572016
GW 572016
GW 572016X
GW-2016
GW-572016
GW-572016F
GW2016
GW572016
HMS2089H10
I01-1247
 
Kinome_3684
Kinome_3685
LAPATINIB DITOSYLATE MONOHYDRATE
LS-187029
LS-187771
Lapatinib
Lapatinib (INN)
Lapatinib Ditosylate
Lapatinib [INN]
Lapatinib ditosylate
Lapatinib ditosylate (USAN)
Lapatinib tosilate hydrate
Lapatinib tosilate hydrate (JAN)
Lapatinib, Tykerb, GW572016
N-(3-Chloro-4-((3-fluorophenyl)methoxy)phenyl)-6-(5-((2-methylsulfonylethylamino)methyl)-2-furyl)quinazolin-4-amine
N-(3-Chloro-4-{[(3-fluorophenyl)methyl]oxy}phenyl)-6-[5-({[2-(methylsulfonyl)ethyl]amino}methyl)-2-furanyl]-4-quinazolinamine
N-(3-chloro-4-((3-Fluorophenyl)methoxy)phenyl)-6-(5-(((2-(methylsulfonyl)ethyl)amino)methyl)-2-furanyl)-4-quinazolinamine
N-[3-chloro-4-[(3-fluorophenyl)methoxy]phenyl]-6-[5-[(2-methylsulfonylethylamino)methyl]furan-2-yl]quinazolin-4-amine
N-{3-CHLORO-4-[(3-FLUOROBENZYL)OXY]PHENYL}-6-[5-({[2-(METHYLSULFONYL)ETHYL]AMINO}METHYL)-2-FURYL]-4-QUINAZOLINAMINE
N-{3-chloro-4-[(3-fluorobenzyl)oxy]phenyl}-6-[5-({[2-(methylsulfonyl)ethyl]amino}methyl)-2-furyl]-4-quinazolinamine
NCGC00167507-01
NSC745750
TL80090051
Tycerb
Tykerb
Tykerb (TN)
Tyverb
UNII-0VUA21238F
lapatinib
lapatinib ditosylate
nchembio866-comp20
14MaytansinePhase 3, Phase 2, Phase 151
15Tubulin ModulatorsPhase 3, Phase 2, Phase 14279
16Antimitotic AgentsPhase 3, Phase 2, Phase 14296
17Antineoplastic Agents, PhytogenicPhase 3, Phase 2, Phase 14294
18Adjuvants, ImmunologicPhase 2, Phase 31783
19Albumin-Bound PaclitaxelPhase 3, Phase 2, Phase 12621
20AnticonvulsantsPhase 32249
21Dopamine Uptake InhibitorsPhase 2, Phase 3925
22Dopamine AgentsPhase 2, Phase 33084
23Central Nervous System StimulantsPhase 2, Phase 31721
24HormonesPhase 3, Phase 211748
25Calcium, DietaryPhase 34678
26calcium channel blockersPhase 31743
27Immunologic FactorsPhase 2, Phase 3, Phase 118483
28Excitatory Amino Acid AntagonistsPhase 3, Phase 21095
29Diuretics, Potassium SparingPhase 3, Phase 21445
30Cholinergic AgentsPhase 33243
31Antiviral AgentsPhase 3, Phase 1, Phase 28071
32Sodium Channel BlockersPhase 3, Phase 21180
33Anti-Infective AgentsPhase 3, Phase 1, Phase 217220
34AcyclovirPhase 3153
35Cholinergic AntagonistsPhase 31423
36Excitatory Amino AcidsPhase 3, Phase 21109
37Neurotransmitter Uptake InhibitorsPhase 2, Phase 32857
38Neurotransmitter AgentsPhase 2, Phase 314795
39Muscarinic AntagonistsPhase 3961
40Protein Kinase InhibitorsPhase 3, Phase 1, Phase 23162
41AntimetabolitesPhase 3, Phase 2, Phase 19454
42Antimetabolites, AntineoplasticPhase 3, Phase 2, Phase 15770
43Prolactin Release-Inhibiting FactorsPhase 344
44Aromatase InhibitorsPhase 3, Phase 2721
45taxanePhase 3, Phase 1324
46
DehydroepiandrosteronenutraceuticalPhase 2, Phase 38753-43-05881, 9860744
Synonyms:
(+)-Dehydroisoandrosterone
(3-beta)-3-Hydroxyandrost-5-en-17-one
(3beta)-3-hydroxy-Androst-5-en-17-one
(3beta,16alpha)-3,16-dihydroxy-androst-5-en-17-one
17-Chetovis
17-Hormoforin
3-beta-Hydroxy-5-androsten-17-one
3-beta-Hydroxyandrost-5-en-17-one
3b-Hydroxy-D5-androsten-17-one
3b-Hydroxyandrost-5-en-17-one
3beta-Hydroxy-D5-androsten-17-one
3beta-Hydroxyandrost-5-en-17-one
3beta-hydroxy-5-androsten-17-one
3beta-hydroxy-Androst-5-en-17-one
5,6-Dehydroisoandrosterone
5,6-Didehydroisoandrosterone
5-Androsten-3-beta-ol-17-one
5-Androsten-3b-ol-17-one
5-Androsten-3beta-ol-17-one
5-DHEA
5-Dehydro-Epiandrosterone
5-Dehydroepiandrosterone
 
Andrestenol
Androst-5-ene-3b-ol-17-one
Androst-5-ene-3beta-ol-17-one
Androsten-3beta-ol-17-one
Androstenolone
Astenile
D5-Androsten-3b-ol-17-one
D5-Androsten-3beta-ol-17-one
DHA
DHEA
Deandros
Dehydro-epi-androsterone
Dehydroepiandrosterone
Dehydroisoandrosterone
Diandron
Diandrone
Hydroxyandrostenone
Prasterona
Prasterone
Prasteronum
Prestara
Psicosterone
trans-Dehydroandrosterone
47DHEA (Dehydroepiandrosterone)NutraceuticalPhase 2, Phase 387
48
PancrelipaseapprovedPhase 288053608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
49
GemcitabineapprovedPhase 1, Phase 2188195058-81-460750
Synonyms:
103882-84-4
122111-03-9
2',2'-DiF-dC
2',2'-Difluoro-2'-deoxycytidine
2',2'-Difluorodeoxycytidine
2'-Deoxy-.beta.-D-2',2'-difluorocytidine
2'-Deoxy-2',2'-difluorocytidine
4-Amino-1-[(2R,4R,5R)-3,3-difluoro-4-hydroxy-5-(hydroxymethyl)oxolan-2-yl]pyrimidin-2-one
4-Amino-1-[3,3-difluoro-4-hydroxy-5-(hydroxymethyl) tetrahydrofuran-2-yl]-1H-pyrimidin-2-one
4-amino-1-((2R,4R,5R)-3,3-Difluoro-4-hydroxy-5-(hydroxymethyl)-tetrahydrofuran-2-yl)pyrimidin-2(1H)-one
4-amino-1-((2R,4R,5R)-3,3-difluoro-4-hydroxy-5-(hydroxymethyl)-tetrahydrofuran-2-yl)pyrimidin-2(1H)-one
95058-81-4
AB1004842
AC1L1TUQ
C07650
CCRIS 8984
CHEBI:175901
CHEMBL888
CID60750
Cytidine, 2'-deoxy-2',2'-difluoro-2'-Deoxy-.beta.-D-2',2'-difluorocytidine
D02368
DB00441
DDFC
DFDC
DFdC
DFdCyd
Folfugem
GEO
Gamcitabine
GemLip
Gemcel
 
Gemcin
Gemcitabin
Gemcitabina
Gemcitabina [INN-Spanish]
Gemcitabine
Gemcitabine (USAN/INN)
Gemcitabine HCl
Gemcitabine Hydrochloride
Gemcitabine hydrochloride
Gemcitabine stereoisomer
Gemcitabinum
Gemcitabinum [INN-Latin]
Gemtro
Gemzar
Gemzar (hydrochloride)
HMS2089P10
HSDB 7567
Inno-D07001
LS-59139
LY 188011
LY-188011
LY188011
NCGC00168784-01
NChemBio.2007.10-comp25
NSC 613327
NSC613327
TL8005979
UNII-B76N6SBZ8R
ZINC18279854
Zefei
gemcitabine
nchembio.573-comp7
nchembio.90-comp2
50
NorethindroneapprovedPhase 28768-22-46230
Synonyms:
(17-alpha)-17-Hydroxy-19-norpregn-4-en-20-yn-3-one
(17alpha)-17-Ethynyl-17-hydroxyestra-4,8(14),9-trien-3-one
17-Ethinyl-19-nor-testosterone
17-Ethinyl-19-nortestosterone
17-Ethynyl-17-hydroxyestr-4-en-3-one
17-Ethynyl-17-hydroxyestr-4-en-3-one (ACD/Name 4.0)
17-Ethynyl-17beta-hydroxyestr-4-en-3-one
17-Ethynyl-19-Nortestosterone
17-Hydroxy-(17alpha)-19-Norpregn-4-en-20-yn-3-one
17-Hydroxy-17-alpha-19-Norpregn-4-en-20-yn-3-one
17-Hydroxy-17-alpha-19-norpregn-4-en-20-yn-3-one
17-Hydroxy-19-Nor-17alpha-pregn-4-en-20-yn-3-one
17-Hydroxy-19-nor-17-alpha-pregn-4-en-20-yn-3-one
17-Hydroxy-19-nor-17alpha-pregn-4-en-20-yn-3-one
17-alpha-Ethynyl-17-beta-hydroxy-4-estren-3-one
17-alpha-Ethynyl-17-hydroxy-4-estren-3-one
17-alpha-Ethynyl-19-norandrost-4-en-17-beta-ol-3-one
17-alpha-Ethynyl-19-nortestosterone
17-alpha-Ethynyl-4-estren-17-ol-3-one
17-beta-Hydroxy-19-norpregn-4-en-20-yn-3-one
17-ethynyl-17beta-hydroxyestr-4-en-3-one
17.alpha.-Ethinyl-19-nortestosterone
17.alpha.-Ethynyl-19-nortestosterone
17.alpha.-Ethynyl-4-estren-17-ol-3-one
17alpha-Ethinyl-17alpha-Ethinyl-19-nortestosterone
17alpha-Ethinyl-19-Nortestosterone
17alpha-Ethinyl-19-nortestosterone
17alpha-Ethinylestra-4-en-17beta-ol-3-one
17alpha-Ethynyl-17-hydroxy-4-estren-3-one
17alpha-Ethynyl-17-hydroxyest-4-en-3-one
17alpha-Ethynyl-17beta-hydroxy-19-norandrost-4-en-3-one
17alpha-Ethynyl-17beta-hydroxyestr-4-en-3-one
17alpha-Ethynyl-19-nor-4-androsten-17beta-ol-3-one
17alpha-Ethynyl-19-norandrost-4-en-17beta-ol-3-one
17alpha-Ethynyl-19-nortestosterone
17alpha-Ethynyl-3-oxo-4-estren-17beta-ol
17alpha-Ethynyl-4-estren-17-ol-3-one
17alpha-ethynyl-17-hydroxy-Estr-4-en-3-one
17alpha-ethynyl-17beta-hydroxy-19-Norandrost-4-en-3-one
17alpha-pregn-4-en-20-yn-3-one
17beta-Hydroxy-17alpha-ethynylestr-4-en-3-one
17beta-Hydroxy-19-norpregn-4-en-20-yn-3-one
17α-ethinyl-19-nortestosterone
19-Nor-17-alpha-ethynyl-17-beta-hydroxy-4-androsten-3-one
19-Nor-17-alpha-ethynylandrosten-17-beta-ol-3-one
19-Nor-17-alpha-ethynyltestosterone
19-Nor-17-ethinyl testosterone
19-Nor-17-ethinyltestosterone
19-Nor-17.alpha.-ethynyltestosterone
19-Nor-17alpa-ethynyltestosterone
19-Nor-17alpha-Ethynyl-17beta-hydroxy-4-androsten-3-one
19-Nor-17alpha-Ethynylandrosten-17beta-ol-3-one
19-Nor-17alpha-ethynyl-17beta-hydroxy-4-androsten-3-one
19-Nor-17alpha-ethynylandrosten-17beta-ol-3-one
19-Nor-17alpha-ethynyltestosterone
19-Nor-ethindrone
19-Nor-ethinyl--4,5-testosterone
19-Norethindrone
19-Norethinyltestosterone
19-Norethisterone
19-nor-17α-ethynyltestosterone
4-Estren-17alpha-ethynyl-17beta-ol-3-one
46525_FLUKA
46525_RIEDEL
68-22-4
A3564/0151191
AC-11100
AC1L1IDS
AC1L1M2R
AC1NWAOX
AC1O5EOU
AC1Q6OG5
AI3-26422
AKOS004119895
AR-1C1071
ARONIS24281
Activella
Anhydrohydroxynorprogesterone
Anovulatorio
Anovule
Aygestin
BB_NC-0600
BPBio1_000074
BRD-A39415247-001-02-1
BRD-K92073408-001-03-3
BRN 1915671
BSPBio_000066
BSPBio_002101
Brevicon
Brevinor
Brevinor 21
Brevinor 28
Brevinor-1 21
Brevinor-1 28
C05028
CCRIS 484
CHEBI:7627
CHEMBL1162
CID4536
CID5702093
CID6230
CID6432649
CPD000499579
Camila
Camila (TN)
Ciclovulan
Conceplan
Conludaf
Conludag
D00182
DB00717
Deblitane
Demulen
DivK1c_000553
EINECS 200-681-6
ENT
Errin
Estrinor
Ethinyl-19-nortestosterone
Ethinylnortestosterone
Ethynylmortestosterone
Ethynylnortestosterone
Gencept
Genora
Gestest
HMS1568D08
HMS1920B10
HMS2090D21
HMS2091J10
HMS501L15
HSDB 3370
Heather
I06-0104
IDI1_000553
Jencycla
Jenest
Jenest-28
 
Jolivette
KBio1_000553
KBio2_001491
KBio2_004059
KBio2_006627
KBio3_001601
KBioGR_000637
KBioSS_001491
LMST02030097
LS-97425
Loestrin
Lyza
MLS001076679
MLS001163874
MLS001304093
Menzol
Microneth
Micronett
Micronor
Micronor (TN)
Micronovum
Milli
Mini-PE
Mini-Pe
Mini-pill
Minovlar
MolPort-002-507-131
MolPort-002-509-542
MolPort-002-728-977
MolPort-003-861-444
N.E.E
N.E.E.
N0449
N4128_SIGMA
NCGC00178820-01
NCGC00179669-01
NET
NINDS_000553
NSC-9564
NSC9564
Nelova
Nodiol
Nor Qd
Nor-Q.D
Nor-Q.D.
Nor-QD
Nora Be
Nora-BE
Noraethisteronum
Noralutin
Norcept
Norcept-E
Norcolut
Norcolute
Noresthisterone
Norethadrone
Norethin
Norethin 1/35 E
Norethin 1/50 M
Norethindirone
Norethindrone
Norethindrone (USP)
Norethindrone Acetate
Norethindrone Norethisterone
Norethindrone [USAN]
Norethisteron
Norethisterone
Norethisterone (JP15)
Norethisterone [Progestins]
Norethisteronum
Norethisteronum [INN-Latin]
Norethyndron
Norethynodron
Norethynodrone
Noretisterona
Noretisterona [INN-Spanish]
Noretisterone
Noretisterone [DCIT]
Norfor
Norgestin
Noriday
Noriday 28
Norlutate
Norluten
Norlutin
Norluton
Norlyroc
Normapause
Norpregneninlone
Norpregneninolone
Norpregneninotone
Oprea1_606355
Orlest
Ortho 1 35
Ortho 7 7 7
Ortho Micronor
Ortho-Novum 1 35
Ortho-Novum 1 50
Ortho-Novum 7 7 7
Ovysmen 0.5 35
Ovysmen 1 35
Prestwick0_000253
Prestwick1_000253
Prestwick2_000253
Prestwick3_000253
Prestwick_646
Primolut N
Primolut-N
Primolut-N (TN)
Proluteasi
SAM002564223
SC 4640
SMR000499579
SMR000718762
SPBio_001052
SPBio_002285
SPECTRUM1500437
ST094767
STK730956
STOCK1N-04274
Sharobel
Spectrum2_001066
Spectrum3_000521
Spectrum4_000079
Spectrum5_001198
Spectrum_001011
Synphase
Synphasic 28
Tri-Norinyl
Triella
Trinovum 21
UNII-T18F433X4S
Utovlan
Utovlar
WLN: L E5 B666 OV MUTJ E FQ F1UU1 -A&F
ZINC03814419
component of Noriday
norethindrone

Interventional clinical trials:

(show top 50)    (show all 106)
idNameStatusNCT IDPhase
1Efficacy and Tolerance of AVAPS Mode in Myotonic DystrophyRecruitingNCT01530841Phase 4
2Efficacy and Safety of DHEA for Myotonic DystrophyCompletedNCT00167609Phase 2, Phase 3
3Methylphenidate in Myotonic Dystrophy Type 1CompletedNCT01421992Phase 2, Phase 3
4Lamotrigine as Treatment of MyotoniaCompletedNCT01939561Phase 3
5Phase 3 Clinical Study for the Treatment of Cold SoreCompletedNCT00769314Phase 3
6PD P 506 A-PDT Versus Placebo-PDT and Cryosurgery for the Treatment of AKCompletedNCT00308867Phase 3
7Long-Term Open-Label Extension Trial for Subjects Completing the Phase 3 Trial of Fesoterodine (SP583) for the Treatment of Overactive Bladder SyndromeCompletedNCT00220402Phase 3
8A Multicenter Trial to Investigate Fesoterodine Sustained Release in Overactive Bladder SyndromeCompletedNCT00220363Phase 3
9Safety and Efficacy of a Violet Visible Light Blocking Intraocular Lens (IOL)CompletedNCT00747227Phase 3
10RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic DystrophyRecruitingNCT00127582Phase 3
11A Study of Kadcyla (Trastuzumab Emtansine) in Patients With HER2 Positive Breast Cancer Who Have Received Prior Anti-HER2 And Chemotherapy-based TreatmentRecruitingNCT01702571Phase 3
12A Randomized, Open-label Phase III Trial to Evaluate the Efficacy and Safety of Pertuzumab Retreatment in Previously Pertuzumab, Trastuzuamb and Chemotherapy Treated Her2-Positive Metastatic Locally Advanced and Metastatic Breast Cancer(Study of Perjeta RRecruitingNCT02514681Phase 3
13Efficacy and Tolerance of Early Launching of Nocturnal Non InvasiveActive, not recruitingNCT01225614Phase 3
14An Open-label Study of Trastuzumab Emtansine (T-DM1) vs Capecitabine + Lapatinib in Patients With HER2-positive Locally Advanced or Metastatic Breast CancerActive, not recruitingNCT00829166Phase 3
15A Study of Trastuzumab Emtansine (T-DM1) Plus Pertuzumab/Pertuzumab Placebo Versus Trastuzumab [Herceptin] Plus a Taxane in Patients With Metastatic Breast Cancer (MARIANNE)Active, not recruitingNCT01120184Phase 3
16A Study of Trastuzumab Emtansine Versus Taxane in Patients With Advanced Gastric CancerActive, not recruitingNCT01641939Phase 3
17A Study of Trastuzumab Emtansine in Comparison With Treatment of Physician's Choice in Patients With HER2-positive Breast Cancer Who Have Received at Least Two Prior Regimens of HER2-directed TherapyActive, not recruitingNCT01419197Phase 3
18A Study of Kadcyla (Trastuzumab Emtansine) Plus Perjeta (Pertuzumab) Following Anthracyclines in Comparison With Herceptin (Trastuzumab) Plus Perjeta and a Taxane Following Anthracyclines as Adjuvant Therapy in Patients With Operable HER2-Positive PrimaryActive, not recruitingNCT01966471Phase 3
19A Study of Trastuzumab-MCC-DM1 in Patients With HER2- Positive Locally Advanced or Metastatic Breast CancerApproved for marketingNCT01120561Phase 2
20Effects of SomatoKine (Iplex)Recombinant Human Insulin-like Growth Factor-1/Recombinant Human Insulin-like Growth Factor-binding Protein-3 (rhIGF-I/rhIGFBP-3) in Myotonic Dystrophy Type 1 (DM1)CompletedNCT00233519Phase 1, Phase 2
21PK/PD Study With G-Pump (Glucagon Infusion) in DM1 PatientsCompletedNCT02081001Phase 2
22Corrected QT Interval Effects of Trastuzumab Emtansine (T-DM1) in Patients With Human Epidermal Growth Factor Receptor 2 (HER2)-Positive Locally Advanced or Metastatic Breast Cancer and the Safety and Tolerability of Combined T-DM1 and Pertuzumab in PatieCompletedNCT00943670Phase 2
23A Study of the Efficacy and Safety of Trastuzumab Emtansine (Trastuzumab-MCC-DM1) vs. Trastuzumab (Herceptin®) and Docetaxel (Taxotere®) in Patients With Metastatic HER2-positive Breast Cancer Who Have Not Received Prior Chemotherapy for Metastatic DiseasCompletedNCT00679341Phase 2
24A Study of Trastuzumab Emtansine (Trastuzumab-MCC-DM1, T-DM1) in Combination With Pertuzumab Administered to Patients With Human Epidermal Growth Factor Receptor-2 (HER2)-Positive Locally Advanced or Metastatic Breast Cancer Who Have Previously Received TCompletedNCT00875979Phase 1, Phase 2
25A Study of Trastuzumab-Mcc-DM1 Administered Intravenously to Patients With HER2-Positive Metastatic Breast CancerCompletedNCT00679211Phase 2
26A Study of Trastuzumab Emtansine (Trastuzumab-MCC-DM1) Administered Intravenously to Patients With Human Epidermal Growth Factor Receptor 2 (HER2)-Positive Metastatic Breast CancerCompletedNCT00509769Phase 2
27A Study of Trastuzumab Emtansine (T-DM1) Sequentially With Anthracycline-based Chemotherapy, as Adjuvant or Neoadjuvant Therapy for Patients With Early Stage Herceptin (HER)2-positive Breast CancerCompletedNCT01196052Phase 2
28MLN2704 in Subjects With Metastatic Androgen-Independent Prostate CancerCompletedNCT00070837Phase 1, Phase 2
29Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1RecruitingNCT01406873Phase 2
30A Safety andTolerability Study of Multiple Doses of ISIS-DMPKRx in Adults With Myotonic Dystrophy Type 1RecruitingNCT02312011Phase 1, Phase 2
31T-DM1 vs Paclitaxel/Trastuzumab for Breast (ATEMPT Trial)RecruitingNCT01853748Phase 2
32I-SPY 2 TRIAL: Neoadjuvant and Personalized Adaptive Novel Agents to Treat Breast CancerRecruitingNCT01042379Phase 2
33Lorvotuzumab Mertansine in Treating Younger Patients With Relapsed or Refractory Wilms Tumor, Rhabdomyosarcoma, Neuroblastoma, Pleuropulmonary Blastoma, Malignant Peripheral Nerve Sheath Tumor, or Synovial SarcomaRecruitingNCT02452554Phase 2
34A Dose-Escalation Study Evaluating the Combination of Trastuzumab Emtansine (T-DM1) With Neratinib in Women With Metastatic HER2-Positive Breast CancerRecruitingNCT02236000Phase 1, Phase 2
35T-DM1+Pertuzumab in Pre-OP Early-Stage HER2+ BRCARecruitingNCT02326974Phase 2
36HER2 Imaging Study to Identify HER2 Positive Metastatic Breast Cancer Patient Unlikely to Benefit From T-DM1RecruitingNCT01565200Phase 2
37Elderly Metastatic Breast Cancer: Pertuzumab-Herceptin vs Pertuzumab-Herceptin-Metronomic Chemotherapy, Followed by T-DM1RecruitingNCT01597414Phase 2
38An Open-Label, Phase Ib/II Clinical Trial Of Cdk 4/6 Inhibitor, Ribociclib (Lee011), In Combination With Trastuzumab Or T-Dm1 For Advanced/Metastatic Her2-Positive Breast Cancer.RecruitingNCT02657343Phase 1, Phase 2
39Validity of HER2-amplified Circulating Tumor Cells to Select Metastatic Bresat Cancer Considered HER2-negative for Trastuzumab-emtansine (T-DM1) Treatment.RecruitingNCT01975142Phase 2
40Trastuzumab Emtansine in Treating Older Patients With Human Epidermal Growth Factor Receptor 2-Positive Stage I-III Breast CancerRecruitingNCT02414646Phase 2
41A Combination Study of Kadcyla (Trastuzumab Emtansine) and Capecitabine in Participants With Human Epidermal Growth Factor Receptor 2 (HER2)-Positive Metastatic Breast Cancer (mBC) or HER2-Positive Locally Advanced/Metastatic Gastric Cancer (LA/mGC)RecruitingNCT01702558Phase 2
42A Study of Trastuzumab Emtansine in Patients With HER2 IHC-Positive, Locally Advanced or Metastatic Non-Small Cell Lung CancerRecruitingNCT02289833Phase 2
43Trial of Neoadjuvant Trastuzumab Emtansine in Patients With HER2-Equivocal Breast CancerRecruitingNCT02725541Phase 2
44TDM1 With Abraxane and Lapatinib for Metastatic HER2 Positive Breast CancerRecruitingNCT02073916Phase 1, Phase 2
45Phase I/IIa Trial of Gemcitabine Plus Trastuzumab and Pertuzumab in Previously Treated Metastatic HER2+ Breast CancerRecruitingNCT02139358Phase 1, Phase 2
46Phase 2 Study of Standard Chemotherapy With Trastuzumab, Plus or Minus Pertuzumab, for Pre-treated Metastatic Breast CancerRecruitingNCT02229149Phase 2
47Compassionate Use of Omegaven® in the Treatment of Parenteral Nutrition Induced Hepatic InjuryRecruitingNCT01325584Phase 2
48Estriol Treatment in Multiple Sclerosis (MS): Effect on CognitionRecruitingNCT01466114Phase 2
49Safety and Efficacy Study of Recombinant Human Insulin-Like Growth Factor-I/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 (rhIGF-I/rhIGFBP-3) In Myotonic Dystrophy Type 1Active, not recruitingNCT00577577Phase 2
50Transplantation of Autologous Stem Cells for the Treatment of Type 1 Diabetes MellitusActive, not recruitingNCT02644759Phase 1, Phase 2

Search NIH Clinical Center for Myotonic Dystrophy 1


Cochrane evidence based reviews: myotonic dystrophy

Genetic Tests for Myotonic Dystrophy 1

About this section

Genetic tests related to Myotonic Dystrophy 1:

id Genetic test Affiliating Genes
1 Myotonic Dystrophy Type 122 DMPK

Anatomical Context for Myotonic Dystrophy 1

About this section

MalaCards organs/tissues related to Myotonic Dystrophy 1:

33
Skeletal muscle, Breast, Heart, Eye, Testes, Smooth muscle, Pancreas

Animal Models for Myotonic Dystrophy 1 or affiliated genes

About this section

MGI Mouse Phenotypes related to Myotonic Dystrophy 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.7ATP2A1, CLCN1, DHCR7, DMPK, MBNL1, PRKCA

Publications for Myotonic Dystrophy 1

About this section

Articles related to Myotonic Dystrophy 1:

(show all 19)
idTitleAuthorsYear
1
Pid1 induces insulin resistance in both human and mouse skeletal muscle during obesity. (23927930)
2013
2
Sacroiliitis-like pain as the initial presentation of primary hyperparathyroidism. (23225300)
2012
3
Switch-associated protein 70 antibodies in multiple sclerosis: relationship between increased serum levels and clinical relapse. (22728961)
2012
4
Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome. (22908258)
2012
5
Specific armadillo repeat sequences facilitate I^-catenin nuclear transport in live cells via direct binding to nucleoporins Nup62, Nup153, and RanBP2/Nup358. (22110128)
2012
6
A functional motif QLYxxYP is essential for osteopontin induced T lymphocyte activation and migration. (19285028)
2009
7
Pulsatile shear stress increased mitochondrial membrane potential: implication of Mn-SOD. (19666009)
2009
8
Generation of human CD40-activated B cells. (19838159)
2009
9
Evaluation of angiogenesis with the expression of VEGF and CD34 in human non-small cell lung cancer. (17987799)
2007
10
Do cancer cells express functional erythropoietin receptors? (17568024)
2007
11
Ultrasound biomicroscopy in asymmetric pigment dispersion syndrome and pigmentary glaucoma. (17102004)
2006
12
Kinematic alterations in the ipsilateral shoulder of patients with hemiplegia due to stroke. (15668557)
2005
13
Endoscopic management of acute colonic pseudo-obstruction. (16032497)
2005
14
Chemokine signalling: pivoting around multiple phosphoinositide 3-kinases. (11872087)
2002
15
Time at confluence for human RPE cells: effects on the adherens junction and in vitro wound closure. (10967086)
2000
16
Paget's disease of bone complicated by giant cell tumor. (9678047)
1998
17
Two sterol regulatory element-like sequences mediate up-regulation of caveolin gene transcription in response to low density lipoprotein free cholesterol. (9380697)
1997
18
Identification of a major susceptibility locus on chromosome 6p and evidence for further disease loci revealed by a two stage genome-wide search in psoriasis. (9158158)
1997
19
A controlled clinical trial for the effect of bromocriptine on the adrenal contribution in polycystic ovarian disease. (2950709)
1987

Variations for Myotonic Dystrophy 1

About this section

Clinvar genetic disease variations for Myotonic Dystrophy 1:

5 (show all 139)
id Gene Variation Type Significance SNP ID Assembly Location
1DMPKNM_004409.4(DMPK): c.*224_*226[102]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
2DMPKNM_004409.4(DMPK): c.*224_*226[103]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
3DMPKNM_004409.4(DMPK): c.*224_*226[107]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
4DMPKNM_004409.4(DMPK): c.*224_*226[1080]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
5DMPKNM_004409.4(DMPK): c.*224_*226[1140]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
6DMPKNM_004409.4(DMPK): c.*224_*226[1142]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
7DMPKNM_004409.4(DMPK): c.*224_*226[1189]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
8DMPKNM_004409.4(DMPK): c.*224_*226[122]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
9DMPKNM_004409.4(DMPK): c.*224_*226[123]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
10DMPKNM_004409.4(DMPK): c.*224_*226[1236]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
11DMPKNM_004409.4(DMPK): c.*224_*226[124]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
12DMPKNM_004409.4(DMPK): c.*224_*226[127]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
13DMPKNM_004409.4(DMPK): c.*224_*226[131]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
14DMPKNM_004409.4(DMPK): c.*224_*226[132]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
15DMPKNM_004409.4(DMPK): c.*224_*226[134]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
16DMPKNM_004409.4(DMPK): c.*224_*226[135]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
17DMPKNM_004409.4(DMPK): c.*224_*226[142]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
18DMPKNM_004409.4(DMPK): c.*224_*226[146]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
19DMPKNM_004409.4(DMPK): c.*224_*226[1502]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
20DMPKNM_004409.4(DMPK): c.*224_*226[158]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
21DMPKNM_004409.4(DMPK): c.*224_*226[160]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
22DMPKNM_004409.4(DMPK): c.*224_*226[168]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
23DMPKNM_004409.4(DMPK): c.*224_*226[1681]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
24DMPKNM_004409.4(DMPK): c.*224_*226[169]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
25DMPKNM_004409.4(DMPK): c.*224_*226[175]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
26DMPKNM_004409.4(DMPK): c.*224_*226[181]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
27DMPKNM_004409.4(DMPK): c.*224_*226[182]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
28DMPKNM_004409.4(DMPK): c.*224_*226[194]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
29DMPKNM_004409.4(DMPK): c.*224_*226[195]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
30DMPKNM_004409.4(DMPK): c.*224_*226[197]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
31DMPKNM_004409.4(DMPK): c.*224_*226[214]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
32DMPKNM_004409.4(DMPK): c.*224_*226[216]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
33DMPKNM_004409.4(DMPK): c.*224_*226[225]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
34DMPKNM_004409.4(DMPK): c.*224_*226[229]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
35DMPKNM_004409.4(DMPK): c.*224_*226[232]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
36DMPKNM_004409.4(DMPK): c.*224_*226[235]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
37DMPKNM_004409.4(DMPK): c.*224_*226[236]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
38DMPKNM_004409.4(DMPK): c.*224_*226[238]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
39DMPKNM_004409.4(DMPK): c.*224_*226[241]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
40DMPKNM_004409.4(DMPK): c.*224_*226[255]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
41DMPKNM_004409.4(DMPK): c.*224_*226[256]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
42DMPKNM_004409.4(DMPK): c.*224_*226[260]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
43DMPKNM_004409.4(DMPK): c.*224_*226[261]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
44DMPKNM_004409.4(DMPK): c.*224_*226[264]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
45DMPKNM_004409.4(DMPK): c.*224_*226[265]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
46DMPKNM_004409.4(DMPK): c.*224_*226[271]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
47DMPKNM_004409.4(DMPK): c.*224_*226[281]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
48DMPKNM_004409.4(DMPK): c.*224_*226[303]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
49DMPKNM_004409.4(DMPK): c.*224_*226[307]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
50DMPKNM_004409.4(DMPK): c.*224_*226[313]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
51DMPKNM_004409.4(DMPK): c.*224_*226[318]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
52DMPKNM_004409.4(DMPK): c.*224_*226[327]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
53DMPKNM_004409.4(DMPK): c.*224_*226[333]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
54DMPKNM_004409.4(DMPK): c.*224_*226[339]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
55DMPKNM_004409.4(DMPK): c.*224_*226[345]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
56DMPKNM_004409.4(DMPK): c.*224_*226[347]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
57DMPKNM_004409.4(DMPK): c.*224_*226[351]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
58DMPKNM_004409.4(DMPK): c.*224_*226[352]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
59DMPKNM_004409.4(DMPK): c.*224_*226[353]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
60DMPKNM_004409.4(DMPK): c.*224_*226[354]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
61DMPKNM_004409.4(DMPK): c.*224_*226[364]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
62DMPKNM_004409.4(DMPK): c.*224_*226[371]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
63DMPKNM_004409.4(DMPK): c.*224_*226[372]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
64DMPKNM_004409.4(DMPK): c.*224_*226[373]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
65DMPKNM_004409.4(DMPK): c.*224_*226[375]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
66DMPKNM_004409.4(DMPK): c.*224_*226[376]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
67DMPKNM_004409.4(DMPK): c.*224_*226[377]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
68DMPKNM_004409.4(DMPK): c.*224_*226[391]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
69DMPKNM_004409.4(DMPK): c.*224_*226[395]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
70DMPKNM_004409.4(DMPK): c.*224_*226[397]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
71DMPKNM_004409.4(DMPK): c.*224_*226[398]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
72DMPKNM_004409.4(DMPK): c.*224_*226[407]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
73DMPKNM_004409.4(DMPK): c.*224_*226[421]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
74DMPKNM_004409.4(DMPK): c.*224_*226[435]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
75DMPKNM_004409.4(DMPK): c.*224_*226[436]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
76DMPKNM_004409.4(DMPK): c.*224_*226[437]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
77DMPKNM_004409.4(DMPK): c.*224_*226[440]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
78DMPKNM_004409.4(DMPK): c.*224_*226[448]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
79DMPKNM_004409.4(DMPK): c.*224_*226[449]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
80DMPKNM_004409.4(DMPK): c.*224_*226[455]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
81DMPKNM_004409.4(DMPK): c.*224_*226[46]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
82DMPKNM_004409.4(DMPK): c.*224_*226[461]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
83DMPKNM_004409.4(DMPK): c.*224_*226[462]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
84DMPKNM_004409.4(DMPK): c.*224_*226[482]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
85DMPKNM_004409.4(DMPK): c.*224_*226[490]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
86DMPKNM_004409.4(DMPK): c.*224_*226[50]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
87DMPKNM_004409.4(DMPK): c.*224_*226[501]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
88DMPKNM_004409.4(DMPK): c.*224_*226[505]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
89DMPKNM_004409.4(DMPK): c.*224_*226[508]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
90DMPKNM_004409.4(DMPK): c.*224_*226[513]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
91DMPKNM_004409.4(DMPK): c.*224_*226[52]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
92DMPKNM_004409.4(DMPK): c.*224_*226[53]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
93DMPKNM_004409.4(DMPK): c.*224_*226[536]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
94DMPKNM_004409.4(DMPK): c.*224_*226[539]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
95DMPKNM_004409.4(DMPK): c.*224_*226[54]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
96DMPKNM_004409.4(DMPK): c.*224_*226[541]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
97DMPKNM_004409.4(DMPK): c.*224_*226[542]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
98DMPKNM_004409.4(DMPK): c.*224_*226[56]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
99DMPKNM_004409.4(DMPK): c.*224_*226[562]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
100DMPKNM_004409.4(DMPK): c.*224_*226[563]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
101DMPKNM_004409.4(DMPK): c.*224_*226[583]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
102DMPKNM_004409.4(DMPK): c.*224_*226[586]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
103DMPKNM_004409.4(DMPK): c.*224_*226[59]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
104DMPKNM_004409.4(DMPK): c.*224_*226[593]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
105DMPKNM_004409.4(DMPK): c.*224_*226[594]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
106DMPKNM_004409.4(DMPK): c.*224_*226[60]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
107DMPKNM_004409.4(DMPK): c.*224_*226[609]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
108DMPKNM_004409.4(DMPK): c.*224_*226[614]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
109DMPKNM_004409.4(DMPK): c.*224_*226[62]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
110DMPKNM_004409.4(DMPK): c.*224_*226[64]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
111DMPKNM_004409.4(DMPK): c.*224_*226[640]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
112DMPKNM_004409.4(DMPK): c.*224_*226[65]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
113DMPKNM_004409.4(DMPK): c.*224_*226[666]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
114DMPKNM_004409.4(DMPK): c.*224_*226[68]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
115DMPKNM_004409.4(DMPK): c.*224_*226[688]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
116DMPKNM_004409.4(DMPK): c.*224_*226[69]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
117DMPKNM_004409.4(DMPK): c.*224_*226[71]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
118DMPKNM_004409.4(DMPK): c.*224_*226[72]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
119DMPKNM_004409.4(DMPK): c.*224_*226[721]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
120DMPKNM_004409.4(DMPK): c.*224_*226[74]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
121DMPKNM_004409.4(DMPK): c.*224_*226[75]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
122DMPKNM_004409.4(DMPK): c.*224_*226[758]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
123DMPKNM_004409.4(DMPK): c.*224_*226[76]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
124DMPKNM_004409.4(DMPK): c.*224_*226[780]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
125DMPKNM_004409.4(DMPK): c.*224_*226[80]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
126DMPKNM_004409.4(DMPK): c.*224_*226[814]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
127DMPKNM_004409.4(DMPK): c.*224_*226[816]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
128DMPKNM_004409.4(DMPK): c.*224_*226[82]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
129DMPKNM_004409.4(DMPK): c.*224_*226[823]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
130DMPKNM_004409.4(DMPK): c.*224_*226[83]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
131DMPKNM_004409.4(DMPK): c.*224_*226[84]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
132DMPKNM_004409.4(DMPK): c.*224_*226[88]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
133DMPKNM_004409.4(DMPK): c.*224_*226[887]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
134DMPKNM_004409.4(DMPK): c.*224_*226[92]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
135DMPKNM_004409.4(DMPK): c.*224_*226[93]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
136DMPKNM_004409.4(DMPK): c.*224_*226[96]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
137DMPKNM_004409.4(DMPK): c.*224_*226[98]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
138DMPKNM_001081560.2(DMPK): c.*224_*226CTG(51_?)NT expansionPathogenicGRCh37Chr 19, 46273463: 46273465
139DMPKNM_001081563.1: c.*224_226CTG(50-?)undetermined variantPathogenic

Expression for genes affiliated with Myotonic Dystrophy 1

About this section
LifeMap Discovery
Genes differentially expressed in tissues of Myotonic Dystrophy 1 patients vs. healthy controls: 32 (show all 15)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1MAFFv-maf avian musculoaponeurotic fibrosarcoma oncogene homolog FSkeletal Muscle-4.360.001
2COL21A1collagen, type XXI, alpha 1Skeletal Muscle+3.860.000
3COL4A3collagen, type IV, alpha 3 (Goodpasture antigen)Skeletal Muscle+3.810.000
4RARRES1retinoic acid receptor responder (tazarotene induced) 1Skeletal Muscle-3.530.003
5NNMTnicotinamide N-methyltransferaseSkeletal Muscle-3.500.000
6PRPF38Bpre-mRNA processing factor 38BSkeletal Muscle+3.480.000
7NEBnebulinSkeletal Muscle+3.420.000
8RIF1replication timing regulatory factor 1Skeletal Muscle+3.330.000
9SPXspexin hormoneSkeletal Muscle+3.310.001
10SCD5stearoyl-CoA desaturase 5Skeletal Muscle+3.200.000
11AQP4aquaporin 4Skeletal Muscle+3.190.001
12CHI3L1chitinase 3-like 1 (cartilage glycoprotein-39)Skeletal Muscle-3.090.009
13SLC39A14solute carrier family 39 (zinc transporter), member 14Skeletal Muscle-3.070.003
14GOLGA8Agolgin A8 family, member ASkeletal Muscle+3.030.000
15COL3A1collagen, type III, alpha 1Skeletal Muscle+3.020.001

Search GEO for disease gene expression data for Myotonic Dystrophy 1.

Pathways for genes affiliated with Myotonic Dystrophy 1

About this section

GO Terms for genes affiliated with Myotonic Dystrophy 1

About this section

Biological processes related to Myotonic Dystrophy 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1regulation of RNA splicingGO:00434849.8CELF1, MBNL1

Molecular functions related to Myotonic Dystrophy 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1histone kinase activity (H3-T6 specific)GO:00354039.8PRKCA, PRKCB

Sources for Myotonic Dystrophy 1

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