MCID: MCR264
MIFTS: 57

Mcardle Disease malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Mcardle Disease

About this section
Sources:
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Mcardle Disease:

Name: Mcardle Disease 50 22 46 23 24 52 68 12
Glycogen Storage Disease Type V 11 22 23 24 52 37 66
Myophosphorylase Deficiency 11 22 46 23 24 52 68
Muscle Glycogen Phosphorylase Deficiency 22 46 23 24
Glycogen Storage Disease V 50 11 13 68
Glycogen Storage Disease Type 5 46 24 52
Glycogenosis Type V 22 23 52
Gsd V 23 24 68
Mcardle Type Glycogen Storage Disease 46 24
Glycogen Storage Disease 5 68 25
Mcardle's Disease 11 24
Mcardle Syndrome 23 24
Pygm Deficiency 46 24
Gsd Type V 24 52
 
Gsdv 22 23
Glycogen Storage Disease Due to Muscle Glycogen Phosphorylase Deficiency 52
Glycogenosis Due to Muscle Glycogen Phosphorylase Deficiency 52
Gsd Due to Muscle Glycogen Phosphorylase Deficiency 52
Glycogen Storage Disease, Type V 11
Muscle Phosphorylase Deficiency 24
Phosphorylase, Glycogen, Muscle 12
Glycogenosis Type 5 52
Mcardles Disease 48
Glycogenosis 5 24
Gsd Type 5 52
Gsd-V 68
Gsd 5 46
Gsd5 68

Characteristics:

Orphanet epidemiological data:

52
mcardle disease:
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: normal life expectancy

HPO:

62
mcardle disease:
Inheritance: autosomal recessive inheritance
Onset and clinical course: adult onset
Inheritance: autosomal recessive inheritance, multifactorial inheritance


Classifications:



External Ids:

OMIM50 232600
Disease Ontology11 DOID:2746
ICD1028 E74.04
MeSH37 D006012
NCIt43 C84738
SNOMED-CT60 55912009
Orphanet52 ORPHA368
ICD10 via Orphanet29 E74.0
MESH via Orphanet38 C537276, D006012
UMLS via Orphanet67 C0017924, C2936916
MedGen35 C0017924

Summaries for Mcardle Disease

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NIH Rare Diseases:46 Glycogen storage disease type 5 (gsdv) is a genetic disorder that prevents the body from breaking down glycogen. glycogen is an important source of energy that is stored in muscle tissue. people with gsdv typically experience fatigue, muscle pain, and cramps during the first few minutes of exercise (exercise intolerance). usually, when people with this disease rest after brief exercise they can resume exercising with little or no discomfort (a characteristic phenomenon known as "second wind"). the signs and symptoms can vary significantly and may include burgundy-colored urine, fatigue, exercise intolerance, muscle cramps, muscle pain, muscle stiffness, and muscle weakness. it is caused by mutations in the pygm gene and is inherited in an autosomal recessive fashion. there is no cure or specific treatment but the disease can be managed with moderate-intensity aerobic training (e.g., walking or brisk walking, bicycling) and diet. last updated: 1/2/2016

MalaCards based summary: Mcardle Disease, also known as glycogen storage disease type v, is related to hiv-1 and obesity, and has symptoms including myopathy, renal insufficiency and abnormality of the cardiovascular system. An important gene associated with Mcardle Disease is PYGM (Phosphorylase, Glycogen, Muscle), and among its related pathways are Mitochondrial LC-Fatty Acid Beta-Oxidation and Galactose metabolism. Affiliated tissues include breast, b cells and skeletal muscle, and related mouse phenotypes are muscle and behavior/neurological.

UniProtKB/Swiss-Prot:68 Glycogen storage disease 5: A metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria.

Genetics Home Reference:24 Glycogen storage disease type V (also known as GSDV or McArdle disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells.

OMIM:50 McArdle disease is an autosomal recessive metabolic disorder characterized by onset of exercise intolerance and muscle... (232600) more...

Wikipedia:69 Glycogen storage disease type V (GSD-V) is a metabolic disorder, more specifically a glycogen storage... more...

GeneReviews summary for NBK1344

Related Diseases for Mcardle Disease

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Graphical network of diseases related to Mcardle Disease:



Diseases related to mcardle disease

Symptoms for Mcardle Disease

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Symptoms by clinical synopsis from OMIM:

232600

Clinical features from OMIM:

232600

Symptoms:

 52
  • renal insufficiency
  • abnormality of the cardiovascular system
  • myopathy
  • elevated serum creatine phosphokinase

HPO human phenotypes related to Mcardle Disease:

(show all 12)
id Description Frequency HPO Source Accession
1 myopathy typical (50%) HP:0003198
2 renal insufficiency occasional (7.5%) HP:0000083
3 abnormality of the cardiovascular system occasional (7.5%) HP:0001626
4 muscle weakness HP:0001324
5 myoglobinuria HP:0002913
6 rhabdomyolysis HP:0003201
7 elevated serum creatine phosphokinase HP:0003236
8 exercise-induced muscle cramps HP:0003710
9 exercise-induced myalgia HP:0003738
10 abnormality of the endocrine system HP:0000818
11 abnormality of metabolism/homeostasis HP:0001939
12 short stature HP:0004322

Drugs & Therapeutics for Mcardle Disease

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Drugs for Mcardle Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
TazobactamPhase 49289786-04-9123630
Synonyms:
(2S,3S,5R)-3-methyl-4,4,7-trioxo-3-(triazol-1-ylmethyl)-4
(2S,3S,5R)-3-methyl-7-oxo-3-(1H-1,2,3-triazol-1-ylmethyl)-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid 4,4-dioxide
89785-84-2
89786-04-9
AC-7620
AC1L3X07
BIDD:GT0212
C07771
CHEBI:100207
CHEMBL404
 
CID123630
CL-298741
CL298741
D00660
DB01606
MolPort-002-500-123
TAZ
Tazobactam
Tazobactam (JAN/USAN/INN)
YTR-830H
YTR830H
2
ClenbuterolPhase 1, Phase 2337148-27-92783
Synonyms:
(+)-4-Amino-alpha-((tert-butylamino)methyl)-3,5-dichlorobenzyl alcohol
(+-)-Clenbuterol
(+-)-clenbuterol
(-)-4-Amino-alpha-((tert-butylamino)methyl)-3,5-dichlorobenzyl alcohol
(±)-clenbuterol
1-(4-Amino-3,5-dichloro-phenyl)-2-tert-butylamino-ethanol
1-(4-Amino-3,5-dichlorophenyl)-2-(tert-butylamino)ethanol
1-(4-amino-3,5-dichlorophenyl)-2-[(1,1-dimethylethyl)amino]ethanol
37148-27-9
4-Amino-3,5-dichloro-alpha-(((1,1-dimethylethyl)amino)methyl)benzenemethanol
4-Amino-alpha-((tert-butylamino)methyl)-3,5-dichlorobenzyl alcohol
4-amino-3,5-Dichloro-alpha-(((1,1-dimethylethyl)amino)methyl)benzenemethanol
4-amino-alpha-((Tert-butylamino)methyl)-3,5-dichlorobenzyl alcohol
4-amino-α-((tert-butylamino)methyl)-3,5-dichlorobenzyl alcohol
50306-03-1
50499-60-0
AB00053680
AC-10284
AC1L1EGH
BPBio1_000451
BRD-A75726477-003-04-9
BRN 1076467
BSPBio_000409
BSPBio_002609
C12H18Cl2N2O
CHEBI:174690
CHEMBL49080
CID2783
CLENBUTEROL
Clenbuterol (INN)
Clenbuterol [BAN:INN]
Clenbuterolum
Clenbuterolum [INN-Latin]
Clenbuterolum [inn-latin]
Contraspasmin
Contraspasmin (TN)
D07713
 
DB01407
DivK1c_000794
EINECS 253-366-0
EINECS 256-531-5
EINECS 256-608-3
HMS2089I15
IDI1_000794
KBio1_000794
KBio2_002044
KBio2_004612
KBio2_007180
KBio3_001829
KBioGR_001066
KBioGR_001518
KBioSS_002044
LS-30602
MolPort-003-845-975
NAB-365
NCGC00163150-01
NCGC00163150-02
NCGC00163150-03
NCGC00163150-04
NINDS_000794
Planipart
Planipart [veterinary]
Planipart [veterinary] (TN)
Prestwick0_000345
Prestwick1_000345
Prestwick2_000345
Prestwick3_000345
SPBio_002330
Spectrum3_000975
Spectrum4_000743
Spectrum4_001099
Spectrum5_001497
Spectrum_001564
UNII-XTZ6AXU7KN
clenbuterol
nchembio.307-comp6
3
MiconazolePhase 1357322916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
4
LidocainePhase 11168137-58-63676
Synonyms:
.alpha.-(Diethylamino)-2,6-acetoxylidide
.alpha.-Diethylamino-2,6-dimethylacetanilide
.alpha.-Diethylaminoaceto-2,6-xylidide
.omega.-Diethylamino-2,6-dimethylacetanilide
137-58-6
2-(Diethylamino)-2',6'-acetoxylidide
2-(Diethylamino)-N-(2,6-dimethylphenyl)acetamide
2-Diethylamino-N-(2,6-dimethyl-phenyl)-acetamide
2-Diethylamino-N-(2,6-dimethylphenyl)acetamide
4-12-00-02538 (Beilstein Handbook Reference)
6108-05-0 (MONOHYDROCHLORIDE MONOHYDRATE))
6108-05-0 (mono-hydrochloride, mono-hydrate)
73-78-9 (mono-hydrochloride)
AB00053581
AC-10282
AC1L1GGQ
AC1Q2Z7J
AKOS001026768
ARONIS23855
After Burn Double Strength Gel
After Burn Double Strength Spray
After Burn Gel
After Burn Spray
Alphacaine
Anestacon
Anestacon Jelly
BIDD:GT0342
BPBio1_000197
BRD-K52662033-001-02-6
BRD-K52662033-003-05-5
BRN 2215784
BSPBio_000179
BSPBio_001359
BSPBio_003004
Bio-0767
Bio1_000379
Bio1_000868
Bio1_001357
Bio2_000079
Bio2_000559
C07073
C14H22N2O
CAS-73-78-9
CDS1_000283
CHEBI:6456
CHEMBL79
CID3676
CPD000058189
Cappicaine
Cito optadren
Cuivasil
D00358
DB00281
Dalcaine
Dentipatch
Dentipatch (TN)
DermaFlex
Diethylaminoaceto-2,6-xylidide
Dilocaine
DivK1c_000174
DivK1c_001323
Duncaine
EINECS 205-302-8
ELA-Max
EMBOLEX
Emla
Emla Cream
Esracaine
FT-0082378
Gravocain
HMS1791D21
HMS1989D21
HMS2051C21
HMS2089E15
HMS548M19
HSDB 3350
I01-2704
IDI1_000174
IDI1_033829
Isicaina
Isicaine
Jetocaine
KBio1_000174
KBio2_000079
KBio2_001598
KBio2_002647
KBio2_004166
KBio2_005215
KBio2_006734
KBio3_000157
KBio3_000158
KBio3_002224
KBioGR_000079
KBioGR_000599
KBioSS_000079
KBioSS_001598
L-Caine
L0156
L1026_SIGMA
L7757_SIGMA
LIDOCAINE (73-58-6 (MONOHYDROCHLORIDE)
LIDOPEN
LQZ
 
LS-805
Lanabiotic
Leostesin
Lida-Mantle
Lidocaina
Lidocaina [INN-Spanish]
Lidocaine (JP15/USP/INN)
Lidocaine (VAN)
Lidocaine Carbonate
Lidocaine Hydrocarbonate
Lidocaine Monohydrochloride
Lidocaine [USAN:INN:JAN]
Lidocainum
Lidocainum [INN-Latin]
Lidocaton
Lidoderm
Lidoject-1
Lidoject-2
Lignocaine
Lignocainum
Lingocaine
Lopac-L-5647
Lopac0_000669
MLS000069724
MLS000758263
MLS001074177
Maricaine
Maybridge1_002571
MolPort-001-783-478
N-(2,6-dimethylphenyl)-N(2),N(2)-diethylglycinamide
N-(2,6-dimethylphenyl)-N~2~,N~2~-diethylglycinamide
NCGC00015611-01
NCGC00015611-02
NCGC00015611-03
NCGC00015611-04
NCGC00015611-14
NCGC00022176-05
NCGC00022176-06
NCGC00022176-07
NCGC00022176-08
NCGC00022176-09
NINDS_000174
NSC 40030
NSC40030
Norwood Sunburn Spray
Octocaine
Octocaine-100
Octocaine-50
Prestwick0_000050
Prestwick1_000050
Prestwick2_000050
Prestwick3_000050
Remicaine
Rocephin Kit
Rucaina
S1357_Selleck
SAM001247018
SMR000058189
SPBio_001525
SPBio_002100
STK552033
Solarcaine
Solarcaine aloe extra burn relief cream
Solcain
Spectrum2_001343
Spectrum3_001392
Spectrum4_000070
Spectrum5_001549
Spectrum_001118
UNII-98PI200987
WLN: 2N2 & 1VMR B1 F1
Xilina
Xilocaina
Xilocaina [Italian]
Xllina
Xycaine
Xylestesin
Xylesthesin
Xylocain
Xylocaine
Xylocaine (TN)
Xylocaine 5% Spinal
Xylocaine CO2
Xylocaine Dental Ointment
Xylocaine Endotracheal
Xylocaine Test Dose
Xylocaine Viscous
Xylocaine-MPF
Xylocaine-MPF with Glucose
Xylocaine-Mpf
Xylocaine-Mpf with Glucose
Xylocard
Xylocitin
Xyloneural (free base)
Xylotox
Zilactin-L
Zingo
alfa-Dietilamino-2,6-dimetilacetanilide
alfa-Dietilamino-2,6-dimetilacetanilide [Italian]
alpha-Diethylamino-2,6-dimethylacetanilide
alpha-diethylamino-2,6-dimethylacetanilide
lidocaine
nchembio.65-comp16
α-diethylamino-2,6-dimethylacetanilide
5
rituximabPhase 11611174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
6
sirolimusPhase 1186353123-88-95284616, 6436030, 46835353
Synonyms:
(-)-Rapamycin
(-)-rapamycin
1fkb
1pbk
23,27-Epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine
23,27-Epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine
23,27-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine-1,5,11,28,29
3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
53123-88-9
A422989, NSC226080
AC-722
AC1L1JH9
AC1L7MJ9
AC1L9ZMV
AY 22989
AY-22989
AY22989
Ambotz53123-88-9
Antibiotic AY 22989
BIDD:PXR0165
Bio1_000293
Bio1_000782
Bio1_001271
Bio2_000375
Bio2_000855
BiomolKI2_000084
C07909
C51H79NO13
CBiol_002007
CCRIS 9024
CHEBI:100923
CHEBI:9168
CHEMBL413
CID10213190
CID10795871
CID11949238
CID11959112
CID313006
CID478951
CID5040
CID5284616
CID5358081
CID5374464
CID5460439
CID5497196
CID5924240
CID6436030
CID6610270
CID6610346
CID6711160
CID6713081
CID9833581
CID9854379
CID9854380
CID9962926
CID9962928
D00753
DB00877
DE-109
DivK1c_006936
 
FT-0082351
HMS2089A21
HSDB 7284
KBio1_001880
KBio2_000410
KBio2_002978
KBio2_005546
KBio3_000779
KBio3_000780
KBioGR_000410
KBioSS_000410
LCP-Siro
LMPK06000003
LS-143290
MLS000028373
MS-R001
MolMap_000043
MolPort-003-959-433
NCGC00021305-05
NCI60_001851
NCIMech_000355
NSC 226080
NSC226080
Perceiva
QTL1_000069
R0395_SIAL
R0395_SIGMA
RAP
RAPA
RPM
Rapammune
Rapamune
Rapamune (TN)
Rapamycin
Rapamycin (TN)
Rapamycin C-7, analog 4
Rapamycin Immunosuppressant Drug
Rapamycin from Streptomyces hygroscopicus
S1039_Selleck
SIIA 9268A
SILA 9268A
SILA9268A
SMP1_000255
SMR000058564
Sirolimus
Sirolimus (RAPAMUNE)
Sirolimus (USAN/INN)
Sirolimus [USAN:BAN:INN]
Sirolimus, Rapamune,Rapamycin
SpecPlus_000840
UNII-W36ZG6FT64
UNM-0000358684
WY-090217
Wy 090217
heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy
nchembio.100-comp4
nchembio.2007.42-comp2
nchembio.79-comp1
nchembio762-comp1
nchembio883-comp3
rapamycin
sirolimus
7
PromethazinePhase 121760-87-74927
Synonyms:
(2-Dimethylamino-2-methyl)ethyl-N-dibenzoparathiazine
(2-dimethylamino-2-methyl)ethyl-N-dibenzoparathiazine
(Dimethylamino-2-propyl-10-phenothiazine hydrochloride
10-(2-(Dimethylamino)-2-methylethyl)phenothiazine
10-(2-(Dimethylamino)propyl)phenothiazine
10-(2-Dimethylaminopropyl)phenothiazine
10-[2-(Dimethylamino)propyl]phenothiazine
10-[2-(dimethylamino)Propyl]phenothiazine
10H-Phenothiazine-10-ethanamine, N,N,alpha-trimethyl- (9CI)
10H-Phenothiazine-10-ethanamine, N,N,alpha-trimethyl-, radical ion(1+)
3277 RP
3389 R.p.
38878-40-9
4-27-00-01253 (Beilstein Handbook Reference)
4182 R.p.
60-87-7
73745-50-3
A-91033
AB00053535
AC-15939
AC1L1J92
Antiallersin
Aprobit
Avomine
BPBio1_000744
BRN 0088554
BSPBio_000676
BSPBio_002777
C07404
CCRIS 7056
CHEBI:8461
CHEMBL643
CID4927
Camergan
D00494
DB01069
Dimapp
Dimethylamino-isopropyl-phenthiazin
Dimethylamino-isopropyl-phenthiazin [German]
Diphergan
Diprazin
Diprazine
Diprozin
DivK1c_000005
EINECS 200-489-2
Fargan
Fenazil
Fenetazina
Fenetazine
Genphen
HMS2089E08
HSDB 3173
Hiberna
Histargan
IDI1_000005
Iergigan
InChI=1/C17H20N2S/c1-13(18(2)3)12-19-14-8-4-6-10-16(14)20-17-11-7-5-9-15(17)19/h4-11,13H,12H2,1-3H3
Isophenergan
Isopromethazine
KBio1_000005
KBio2_001348
KBio2_003916
KBio2_006484
KBio3_001997
KBioGR_001697
KBioSS_001348
L000495
LS-264
Lercigan
Lergigan
Lilly 01516
Lilly 1516
Lopac0_000899
Metaryl
MolPort-001-783-684
N,N,alpha-Trimethyl-10H-phenothiazine-10-ethanamine
N,N,α-trimethyl-10H-phenothiazine-10-ethanamine
N,N-dimethyl-1-(10H-phenothiazin-10-yl)propan-2-amine
N,N-dimethyl-1-phenothiazin-10-ylpropan-2-amine
 
N,N-dimethyl-1-phenothiazin-10-ylpropan-2-amine hydrochloride
N-(2'-Dimethylamino-2'-methyl)ethylphenothiazine
N-(2'-dimethylamino-2'-Methyl)ethylphenothiazine
N-Dimethylamino-2-methylethyl thiodiphenylamine
NCGC00015817-10
NCGC00089735-02
NCGC00089735-03
NCI-C60673
NCI60_001878
NINDS_000005
NSC 30321
NSC30321
Oprea1_758749
PROMETHAZINE (SEE ALSO PROMETHAZINE HYDROCHLORIDE 58-33-3)
Pelpica
Phargan
Phenargan
Phenerzine
Phenoject-50
Phensedyl
Pilothia
Pilpophen
Pipolphene
Prestwick0_000888
Prestwick1_000888
Prestwick2_000888
Prestwick3_000888
Pro-50
Proazaimine
Proazamine
Procit
Promacot
Promazinamide
Promergan
Promesan
Prometasin
Prometazin
Prometazina
Prometazina [INN-Spanish]
Prometazine
Prometh
Promethacon
Promethaine
Promethazin
Promethazine
Promethazine (JAN/INN)
Promethazine [INN:BAN]
PromethazineHcl
Promethazinum
Promethazinum [INN-Latin]
Promethegan
Promethiazine
Promezathine
Prorex
Protazine
Prothazin
Prothazine
Provigan
Pyrethia
Pyrethiazine
RP 3277
Remsed
Romergan
Rumergan
SKF 1498
SPBio_000799
SPBio_002895
Spectrum2_000840
Spectrum3_001019
Spectrum4_001149
Spectrum5_000977
Spectrum_000868
Tanidil
Thiergan
UNII-FF28EJQ494
Valergine
Vallergine
WLN: T C666 BN ISJ B1Y1&N1&1
WY 509
Zipan-25
promethazine
8
Histamine PhosphatePhase 1100851-74-165513
Synonyms:
1H-Imidazole-4-ethanamine, phosphate (1:2)
2-Imidazol-4-ylethylamine orthophosphoric acid (1:2)
4-(2-Aminoethyl)imidazole bis(dihydrogen phosphate)
4-(2-Aminoethyl)imidazole di-acid phosphate
4-2(2-Aminoethyl)Imidazole-Di-Acid Phosphate
51-74-1
53623-99-7
74-56-6
AC1L23E4
CID65513
D04445
DB00667
 
EINECS 200-118-4
H0147
Histamine acid phosphate
Histamine biphosphate
Histamine dihydrogen phosphate
Histamine diphosphate
Histamine phosphate (1:2)
Histamine phosphate (TN)
Histamine phosphate (USP)
Histamine phosphate [USP]
Histamine positive
Histaminum
LS-78569
UNII-QWB37T4WZZ
9
AcetaminophenPhase 1930103-90-21983
Synonyms:
4'-Hydroxyacetanilide
4'-hydroxyacetanilide
4-(Acetylamino)phenol
4-Acetamidophenol
4-Acetaminophenol
4-Hydroxyacetanilide
4-Hydroxyanilid kyseliny octove
4-acetamidophenol
A-Per
A.F. Anacin
AC1Q1KYJ
AC1Q1KYK
APAP
Abenol
Abensanil
Abrol
Abrolet
Acamol
Accu-Tap
Acenol
Acephen
Acertol
Aceta Elixir
Aceta Tablets
Acetaco
Acetagesic
Acetalgin
Acetaminofen
Acetaminophen
Acetaminophen Uniserts
Acetaminophene
Acetamol
Acetavance
Acetofen
Actamin
Actamin Extra
Actamin Super
Actifed Plus
Actimol
Actimol Chewable Tablets
Actimol Children'S Suspension
Actimol Infants' Suspension
Actimol Junior Strength Caplets
Actron
Afebrin
Afebryl
Aferadol
Algesidal
Algina
Algomol
Algotropyl
Allay
Alpiny
Alpinyl
Alvedon
Amadil
Aminofen
Aminofen Max
Anacin
Anacin 3
Anacin-3
Anacin-3 Extra Strength
Anadin dla dzieci
Anaflon
Analter
Anapap
Andox
Anelix
Anexsia
Anexsia 10/660
Anexsia 5/325
Anexsia 7.5/325
Anexsia 7.5/650
Anhiba
Anoquan
Anti-Algos
Antidol
Anuphen
Apacet
Apacet Capsules
Apacet Elixir
Apacet Extra Strength Caplets
Apacet Extra Strength Tablets
Apacet Regular Strength Tablets
Apadon
Apamid
Apamide
Apitrelal
Apo-Acetaminophen
Arfen
Arthralgen
Asetam
Asomal
Aspac
Aspirin Free Anacin Maximum Strength Caplets
Aspirin Free Anacin Maximum Strength Gel Caplets
Aspirin Free Anacin Maximum Strength Tablets
Aspirin-Free Anacin
Aspirin-Free Excedrin Caplets
Asplin
Atasol
Atasol Caplets
Atasol Drops
Atasol Forte Caplets
Atasol Forte Tablets
Atasol Oral Solution
Atasol Tablets
Atralidon
Babikan
Bacetamol
Bancap
Bancap Hc
Banesin
Bayer Select
Bayer Select Allergy-Sinus
Bayer Select Head Cold
Bayer Select Headache Pain
Bayer Select Maximum Strength Headache Pain Relief Formula
Bayer Select Menstrual Multi-Symptom
Bayer Select Sinus Pain Relief
Ben-u-ron
Benmyo
Bickie-mol
Biocetamol
Bucet
Butalbital
Butapap
CCRIS 3
CHEBI:46195
Cadafen
Calapol
Calmanticold
Calonal
Calpol
Capital
Capital with Codeine
Captin
Causalon
Cefalex
Cetadol
Children'S Acetaminophen Elixir Drops
Children'S Acetaminophen Oral Solution
Children'S Tylenol Chewable
Claradol Codeine
Clixodyne
Co-Gesic
Cod-Acamol Forte
Codabrol
Codalgin
Codapane
Codicet
Codisal
Codisal Forte
Codoliprane
Codral Pain Relief
Cofamol
Conacetol
Contac Cough & Sore Throat Formula
Contra-Schmerz P
Coricidin
Coricidin D
Coricidin Sinus
Cosutone
Croix Blanche
Cuponol
Curadon
Curpol
Custodial
D oliprane
Dafalgan
Dapa
Dapa X-S
Darocet
Darvocet
Darvocet-N 50
Datril
Datril Extra-Strength
Daygrip
Demilets
Deminofen
Democyl
Demogripal
Desfebre
Dhamol
Dhc Plus
Dial-a-gesic
Dial-alpha-gesic
Dimindol
Dirox
Disprol
Dol-Stop
Dolcor
Dolefin
Dolegrippin
Dolene AP-65
Dolene Ap-65
Dolgesic
Doliprane
Dolko
Dolofugin
Doloreduct
Dolorfug
Dolorol Forte
Dolorstop
Dolotec
Dolprone
Dorocoff
Dresan
Dristan Cold No Drowsiness
Dristancito
Drixoral Plus
Duaneo
Dularin
Duorol
Duracetamol
Duradyne Dhc
Durapan
Dymadon
Dymadon Co
Dymadon Forte
Dypap
Ecosetol
Elixodyne
Empracet
Endecon
Enelfa
Eneril
Esgic
Esgic-Plus
Eu-Med
Excedrin
Excedrin Caplets
Excedrin Extra Strength Caplets
Excipain
Exdol
Exdol Strong
Fanalgic
Farmadol
Febranine
Febrectal
Febrectol
Febrex
Febricet
Febridol
Febrilix
Febrin
Febrinol
Febro-Gesic
Febrolin
Femcet
Fendon
Fensum
Fepanil
Fever All
Feverall
Feverall Junior Strength
Feverall Sprinkle Caps Junior Strength
Fevor
Finimal
Finiweh
Fioricet
Fluparmol
Fortalidon P
Freka-cetamol
Gattaphen T
Gelocatil
Geluprane
Genapap
Genapap Children'S Elixir
Genapap Children'S Tablets
Genapap Extra Strength Caplets
Genapap Extra Strength Tablets
Genapap Regular Strength Tablets
Genebs
Genebs Extra Strength Caplets
Genebs Regular Strength Tablets
Genebs X-Tra
Geralgine-P
Gripin Bebe
Grippostad
Gynospasmine
Hedex
Helon N
Homoolan
Hy-Phen
Hycomine Compound
Hydrocet
Ildamol
Inalgex
Infadrops
Infants' Feverall
Influbene N
Injectapap
Intensin
Janupap
Jin Gang
Junior Disprol
KBio1_000660
Kataprin
Kinder Finimal
Korum
Kratofin simplex
L024125
Labamol
Lekadol
Lemgrip
Lemsip
Lestemp
Liqiprine
Liquagesic
Liquigesic Co
Liquiprin
Liquiprin Children'S Elixir
Liquiprin Infants" Drops
Lonarid
Lonarid Mono
Lorcet-Hd
Lortab
Lupocet
Lyteca
Lyteca Syrup
Magnidol
Malex N
Malgis
Malidens
Maxadol
Medigesic Plus
Medinol Paediatric
Medocodene
Melabon Infantil
Mexalen
Midol Maximum Strength
Midol PM Night Time Formula
Midol Regular Strength
Midol Teen Formula
Migraleve Yellow
Minafen
Minoset
Miralgin
 
Momentum
Mono Praecimed
Multin
N-(4-Hydroxyphenyl)acetamide
N-Acetyl-4-aminophenol
N-Acetyl-p-aminophenol
N-acetyl-p-aminophenol
NAPA
NCX 701
NEBS
NSC3991
Naldegesic
Napafen
Napap
Naprinol
Nealgyl
Nebs
Neo-Fepramol
NeoCitran
Neodol
Neodolito
Neopap
Neotrend
Neuridon
New Cortal for Children
NilnOcen
Nina
No-Febril
Nobedon
Nodolex
Noral
Norcet
Norco
O-Acetaminophenol
Ofirmev
Oltyl
Oralgan
Oraphen-PD
Ortensan
Oxycet
Oxycocet
Oxycodone 2.5/Apap 500
Oxycodone 5/Apap 500
PCM Paracetamol Lichtenstein
Paceco
Pacemo
Pacemol
Pacet
Pacimol
Paedialgon
Paedol
Painex
Paldesic
Pamol
Panacete
Panadeine
Panadeine Co
Panadiene
Panado-Co
Panado-Co Caplets
Panadol
Panadol Extra Strength
Panadol Junior Strength Caplets
Panadol Maximum Strength Caplets
Panadol Maximum Strength Tablets
Panale ve
Panaleve
Panamax
Panasorb
Panasorbe
Panets
Panex
Panodil
Panofen
Pantalgin
Papa-Deine
Papa-Deine #3
Papa-Deine #4
Para-Suppo
Para-Tabs
Paracemol
Paracenol
Paracet
Paracetamol
Paracetamol AL
Paracetamol Antipanin P
Paracetamol BC
Paracetamol Basics
Paracetamol DC
Paracetamol Dr. Schmidgall
Paracetamol Fecofar
Paracetamol Genericon
Paracetamol Hanseler
Paracetamol Harkley
Paracetamol Heumann
Paracetamol Hexal
Paracetamol Italfarmaco
Paracetamol Nycomed
Paracetamol PB
Paracetamol Raffo
Paracetamol Ratiopharm
Paracetamol Rosch
Paracetamol Saar
Paracetamol SmithKline Beecham
Paracetamol Stada
Paracetamol Winthrop
Paracetamol von ct
Paracetamole
Paracetamolo
Paracetamolum
Paracetanol
Paracetol
Paracin
Paracod
Paracodol
Parador
Paradrops
Parakapton
Parake
Paralen
Paralief
Paralink
Paralyoc
Paramol
Paramolan
Paranox
Parapan
Parasedol
Parasin
Paraspen
Parcetol
Parelan
Parmol
Parogal
Paroma
Pasolind
Pasolind N
Pe-Tam
Pediapirin
Pediatrix
Pedric
Percocet
Percocet-5
Percocet-Demi
Percogesic with Codeine
Perdolan Mono
Perfalgan
Phenaphen
Phenaphen Caplets
Phenaphen W/Codeine
Phendon
Phenipirin
Phogoglandin
Phrenilin
Phrenilin Forte
Pinex
Piramin
Pirinasol
Plicet
Polmofen
Predimol
Predualito
Prestwick_13
Prodol
Prompt
Prontina
Propacet
Propacet 100
Proval #3
Puernol
Pulmofen
Pyregesic-C
Pyrigesic
Pyrinazine
Pyromed
Quiet World
Redutemp
Reliv
Remedol
Rhinex D-Lay Tablets
Rivalgyl
Robigesic
Robitussin Night Relief
Rockamol Plus
Rounox
Roxicet
Roxicet 5/500
Roxilox
RubieMol
Rubophen
Rupemol
SK-Apap
SPBio_002836
Salzone
Sanicet
Sanicopyrine
Scanol
Scentalgyl
Scherzatabletten Rezeptur 534
Schmerzex
Sedalito
Sedapap
Semolacin
Servigesic
Seskamol
Setakop
Setamol
Setol
Sifenol
Sinaspril
Sine-Off Sinus Medicine Caplets
Sinedol
Sinmol
Sinubid
Snaplets-FR
Spalt N
Spalt fur die nacht
St Joseph Aspirin-Free
St Joseph Aspirin-Free for Children
St. Joseph Cold Tablets for Children
St. Joseph Fever Reducer
Stanback
Stopain
Sudafed Severe Cold Formula
Sudafed Sinus
Sunetheton
Supac
Supadol mono
Supofen
Suppap
Suppap-120
Suppap-325
Suppap-650
Supramol-M
Synalgos-Dc-A
TYL
Tabalgin
Tachiprina
Talacen
Tapanol
Tapanol Extra Strength Caplets
Tapanol Extra Strength Tablets
Tapar
Tavist Allergy/Sinus/Headache
Tazamol
Temlo
Tempanal
Tempra
Tempra Caplets
Tempra Chewable Tablets
Tempra D.S
Tempra Drops
Tempra Syrup
Tencon
Termacet
Termalgin
Termalgine
Termofren
TheraFlu
Tibinide
Tibizide
Tiffy
Tisin
Tisiodrazida
Titralgan
Tizide
Tocris-1706
Toximer P
Tralgon
Treupel N
Treupel mon
Treuphadol
Triad
Triaminic Sore Throat Formula
Triaprin
Tricoton
Tussapap
Ty lenol
Tycolet
Tylenol
Tylenol (TN)
Tylenol Allergy Sinus
Tylenol Arthritis Extended Relief
Tylenol Caplets
Tylenol Children'S Chewable Tablets
Tylenol Children'S Elixir
Tylenol Children'S Suspension Liquid
Tylenol Drops
Tylenol Elixir
Tylenol Extra Strength Adult Liquid Pain Reliever
Tylenol Extra Strength Caplets
Tylenol Extra Strength Gelcaps
Tylenol Extra Strength Tablets
Tylenol Gelcaps
Tylenol Infants Drops
Tylenol Infants" Suspension Drops
Tylenol Junior Strength Caplets
Tylenol Junior Strength Chewable Tablets
Tylenol Regular Strength Caplets
Tylenol Regular Strength Tablets
Tylenol Tablets
Tylex
Tylex CD
Tylol
Tylox
Tylox-325
Tymol
Ultracet
Upsanol
Utragin
Valadol
Valgesic
Valorin
Valorin Extra
Vanquish
Veralgina
Vermidon
Verpol
Viclor Richet
Vicodin
Vicodin Es
Vicodin Hp
Vips
Viruflu
Vivimed
Volpan
Wygesic
Zatinol
Zolben
alpha-Per
p-(Acetylamino)phenol
p-Acetamidophenol
p-Acetaminophenol
p-Acetylaminophenol
p-Hydroxyacetanilide
p-Hydroxyphenolacetamide
p-acetamidophenol
p-acetaminophenol
p-hydroxyacetanilide
p-hydroxyphenolacetamide
10
histaminePhase 1100975614-87-8, 51-45-6774
Synonyms:
.beta.-Imidazolyl-4-ethylamine
1H-Imidazole-4-ethanamine
1H-Imidazole-5-ethanamine
1avn
1qft
2-(1H-Imidazol-4-yl)ethanamine
2-(1H-Imidazol-4-yl)ethylamine
2-(1H-Imidazol-5-yl)ethanamine
2-(1H-Imidazol-5-yl)ethylamine
2-(1H-imidazol-4-yl)ethan-1-amine
2-(1H-imidazol-5-yl)ethanamine
2-(3H-Imidazol-4-yl)-ethylamine
2-(4-Imidazolyl)ethanamine
2-(4-Imidazolyl)ethylamine
2-Imidazol-4-yl-Ethylamine
2-Imidazol-4-ylethylamine
2-[4-Imidazolyl]ethylamine
4-(2-Aminoethyl)-1H-imidazole
4-(2-Aminoethyl)imidazole
4-Imidazoleethylamine
5-Imidazoleethylamine
51-45-6
53290_FLUKA
64422-25-9
924364-91-0
AC-13185
AC1L19ZT
AC1Q54BV
AC1Q54BW
AKOS000274386
ALBB-005968
BCBcMAP01_000250
BSPBio_001117
BSPBio_002124
Bio1_000487
Bio1_000976
Bio1_001465
Bio2_000389
Bio2_000869
C00388
CCRIS 6535
CHEBI:18295
CHEMBL90
CID774
D08040
DivK1c_000308
EINECS 200-100-6
Eramin
Ergamine
Ergotidine
F411C768-A159-4FC0-A195-291A08BB03AA
Free histamine
H7125_SIGMA
HMS1362G19
HMS1792G19
HMS1990G19
HSDB 3338
HSM
Histamine
Histamine (DCF)
Histamine Base
Histamine [USAN]
Histamine, Free Base
Histaminum
 
Histaminum (TN)
IDI1_000308
IDI1_002144
Imidazole-4-ethylamine
Istamina
Istamina [Italian]
KBio1_000308
KBio2_000457
KBio2_001325
KBio2_003025
KBio2_003893
KBio2_005593
KBio2_006461
KBio3_000853
KBio3_000854
KBio3_001344
KBioGR_000457
KBioGR_001580
KBioSS_000457
KBioSS_001325
L-Histamin base
L-Histamine
L-histamine
L000292
LS-75835
Lopac-H-7250
Lopac0_000595
MLS000069447
MolPort-001-785-597
MolPort-002-042-264
NCGC00015513-01
NCGC00015513-08
NCGC00093371-02
NCGC00093371-03
NCGC00093371-04
NCGC00093371-05
NINDS_000308
NSC 33792
NSC33792
SDCCGMLS-0066601.P001
SMP1_000151
SMR000059091
SPBio_000729
ST073926
STK346752
STOCK5S-55669
Spectrum2_000665
Spectrum3_000452
Spectrum4_000960
Spectrum5_000796
Spectrum_000845
Theramine
UNII-820484N8I3
WLN: T5M CNJ D2Z
ZERO/004089
[3H]histamine
b-Imidazolyl-4-ethylamine
beta-Aminoethylglyoxaline
beta-Aminoethylimidazole
beta-Aminothethylglyoxaline
beta-Imidazolyl-4-ethylamine
beta-aminothethylglyoxaline
bmse000744
histamine
nchembio.87-comp54
nchembio714-comp1
11
BenzocainePhase 117941994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
23239-88-5
23239-88-5 (hydrochloride)
4 Aminobenzoic Acid Ethyl Ester
4-(Ethoxycarbonyl)aniline
4-(Ethoxycarbonyl)phenylamine
4-14-00-01129 (Beilstein Handbook Reference)
4-Aminobenzoate
4-Aminobenzoic acid
4-Aminobenzoic acid ethyl ester
4-Aminobenzoic acid, ethyl ester
4-Carbethoxyaniline
4-amino-benzoic acid ethyl ester
4-aminobenzoic acid ethyl ester
71123-91-6
94-09-7
94-09-7 (Parent)
A0271
AB00051923
AC1L1DGC
AC1Q341A
AC1Q64JE
AE-562/40377256
AI3-02081
AKOS000119763
AR-1H9065
Acetate, Benzocaine
Aethoform
Aethylium paraminobenzoicum
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthone
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Bensokain
Benzoak
Benzocaina
Benzocaina [INN-Spanish]
Benzocaine
Benzocaine (USP/INN)
Benzocaine Acetate
Benzocaine Formate
Benzocaine Hydrobromide
Benzocaine Hydrochloride
Benzocaine Methanesulfonate
Benzocaine [INN:BAN]
Benzocainum
Benzocainum [INN-Latin]
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Caswell No. 430A
Chloraseptic
D001566
D00552
DB01086
Dermoplast
Diet Ayds
DivK1c_000932
E1501_SIGMA
EINECS 202-303-5
EPA Pesticide Chemical Code 097001
ETHYL-P-AMINOBENZOATE
Ethoform
Ethoforme
Ethyl 4-aminobenzoate
Ethyl 4-aminobenzoate hydrochloride
Ethyl 4-aminobenzoic acid
Ethyl Aminobenzoate
Ethyl PABA
 
Ethyl aminobenzoate
Ethyl aminobenzoate (JP15)
Ethyl aminobenzoate (VAN)
Ethyl aminobenzoic acid
Ethyl p-Aminobenzoate
Ethyl p-Aminophenylcarboxylate
Ethyl p-aminobenzenecarboxylate
Ethyl p-aminobenzoate
Ethyl p-aminobenzoic acid
Ethyl p-aminophenylcarboxylate
Ethylester kyseliny p-aminobenzoove
Ethylester kyseliny p-aminobenzoove [Czech]
Ethylis aminobenzoas
Formate, Benzocaine
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Hurricaine
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Keloform
LS-35847
MLS001331704
MLS002153970
Methanesulfonate, Benzocaine
MolPort-000-871-526
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Norcain
Norcaine
Norcainum
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orthesin
Otocain
Outgro
Parathesin
Parathesin (TN)
Parathesine
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Topcaine
UNII-U3RSY48JW5
WLN: ZR DVO2
ZINC12358719
benzocaine
ethylaminobenzoate-4
h-4-abz-oet
nchembio.182-comp4
p-(Ethoxycarbonyl)aniline
p-Aminobenzoate
p-Aminobenzoic acid
p-Aminobenzoic acid ethyl ester
p-Aminobenzoic acid, ethyl ester
p-Aminobenzoic ethyl ester
p-Carbethoxyaniline
p-Ethoxycarboxylic Aniline
p-Ethoxycarboxylic aniline
12
EverolimusPhase 11863159351-69-66442177
Synonyms:
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.04,9)hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,23S,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriacont
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-Hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-23,27-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34as)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethy
07741_FLUKA
159351-69-6
40-O-(2-hydroxyethyl)-rapamycin
42-O-(2-Hydroxyethyl)rapamycin
Afinitor
CERTICAN(R)
CHEMBL1201755
Certican
D02714
DB01590
 
Everolimus
Everolimus (JAN/USAN/INN)
Everolimus [USAN]
LS-143292
MolPort-003-847-342
MolPort-003-925-588
NCGC00167512-01
NVP-RAD-001
RAD 001
RAD-001
RAD-001C
RAD001
RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus
S1120_Selleck
SDZ-RAD
UNII-9HW64Q8G6G
Zortress
everolimus
13
DiphenhydraminePhase 121758-73-1, 147-24-03100
Synonyms:
147-24-0
147-24-0 (HYDROCHLORIDE)
2-(Benzhydryloxy)-N,N-dimethylethylamine
2-(Benzhydryloxy)-N,N-dimethylethylamine, hydrochloride
2-(Diphenylmethoxy)-N,N-dimethylethylamine
2-(diphenylmethoxy)-N,N-dimethylethanamine
2-Diphenylmethoxy-N,N-dimethylethylamine
2-[(diphenylmethyl)oxy]-N,N-dimethylethanamine
2-benzhydryloxy-N,N-dimethylethanamine
2-benzhydryloxyethyl-N,N-dimethylammonium
2-diphenylmethoxy-N,N-demthylethanamine
2PM
58-73-1
88637-37-0 (citrate (1:1))
AB00053460
AC-13704
AC1L1F65
AKOS003658554
Aleryl
Alledryl
Aller-Med
Allerdryl
Allergan
Allergan B
Allergeval
Allergical
Allergina
Allergival
Allermax Caplets
Amidryl
Antistominum
Antitussive
Antomin
Automin
BENADRYL HCl
BIDD:GT0152
BPBio1_000275
BRD-K47278471-003-05-7
BRN 1914136
BSPBio_000249
BSPBio_002219
Bagodryl
Banophen
Banophen Caplets
Baramine
Beldin
Belix
Ben-allergin
Bena
Benachlor
Benadrin
Benadryl
Benadryl (hydrochloride)
Benadryl Allergy
Benapon
Bendylate
Benhydramin
Benodin
Benodine
Benylan
Benylin
Benzantin
Benzantine
Benzhydramine
Benzhydraminum
Benzhydril
Benzhydroamina
Benzhydryl
Betramin
CAS-147-24-0
CCRIS 1959
CHEBI:127629
CHEBI:4636
CHEMBL657
CID3100
CPD-10890
Compoz
D00300
DB01075
DB06975
DIPHENHYDRAMINE, ANTISTOMINUM, BENZHYDRAMINE
Dabylen
Debendrin
Dermistina
Dermodrin
Desentol
Diabenyl
Diabylen
Dibendrin
Dibenil
Dibondrin
Difedryl
Difenhidramina
Difenhidramina [INN-Spanish]
Difenhydramin
Difenhydramine
Difenidramina
Difenidramina [Italian]
Dihidral
Dimedrol
Dimedrol base
Dimedrolum
Dimedryl
Dimehydrinate
Dimethylamine benzhydryl ester
Diphamine
Diphantine
Diphen
 
Diphen Cough
Diphenhist
Diphenhist Captabs
Diphenhydramine
Diphenhydramine (JP15/INN)
Diphenhydramine Base
Diphenhydramine HCl
Diphenhydramine [INN:BAN:JAN]
Diphenhydraminum
Diphenhydraminum [INN-Latin]
Diphenylhydramin
Diphenylhydramine
DivK1c_000368
Dobacen
Dormarex 2
Dryistan
Drylistan
Dylamon
EINECS 200-396-7
Etanautine
FAR 90X2
Genahist
HMS2089E06
HSDB 3066
Histaxin
Hyadrine
Hydramine
Hyrexin
I14-6749
IDI1_000368
Ibiodral
KBio1_000368
KBio2_001460
KBio2_004028
KBio2_006596
KBio3_001439
KBioGR_001099
KBioSS_001460
L000227
LS-68208
Lopac-D-3630
Lopac0_000377
MLS002222276
Medidryl
Mephadryl
MolPort-001-783-508
N,N-Dimethyl-2-(diphenylmethoxy)-ethylamine hydrochloride
N-(2-(Diphenylmethoxy)ethyl)-N,N-dimethylamine
N-(Benzhydryloksy-etylo)dwumetyloamina
N-(Benzhydryloksy-etylo)dwumetyloamina [Polish]
N-[2-(BENZHYDRYLOXY)ETHYL]-N,N-DIMETHYLAMINE
NCGC00015335-01
NCGC00015335-02
NCGC00015335-03
NCGC00015335-10
NCGC00024414-03
NCGC00024414-04
NCI60_002916
NCI60_022782
NINDS_000368
NSC665800
Nausen
Nervine Nighttime Sleep-Aid
Novamina
Nytol Quickcaps
Nytol Quickgels
O-Benzhydryldimethylaminoethanol
O-benzhydryldimethylaminoethanol
Oprea1_254625
PM 255
Prestwick0_000065
Prestwick1_000065
Prestwick2_000065
Prestwick3_000065
Probedryl
Restamin
Restamin (TN)
Rigidil
S51
SMR001307259
SPBio_000961
SPBio_002170
STK103720
STOCK2S-94461
Siladryl
Silphen
Sleep-Eze D
Sleep-Eze D Extra Strength
Spectrum2_000961
Spectrum3_000400
Spectrum4_000520
Spectrum5_000915
Spectrum_000980
Syntedril
Syntodril
TL8003758
Twilite Caplets
UNII-8GTS82S83M
Unisom Sleepgels Maximum Strength
alpha-(2-Dimethylaminoethoxy)diphenylmethane
beta-Dimethylamino-aethyl-benzhydryl-aether
beta-Dimethylamino-aethyl-benzhydryl-aether [German]
beta-Dimethylaminoethanol diphenylmethyl ether
beta-Dimethylaminoethyl benzhydryl ether
beta-Dimethylaminoethylbenzhydrylether
beta-dimethylaminoethyl benzhydryl ether
diphenhydramine
nchembio747-comp18
β-dimethylaminoethyl benzhydryl ether
14tannic acidNutraceuticalPhase 11794
15
Somatostatin21238916-34-6, 51110-01-153481605
Synonyms:
growth hormone-inhibiting hormone (GHIH)
 
somatotropin release-inhibiting factor (SRIF)
somatotropin release-inhibiting hormone
16insulin4401

Interventional clinical trials:

(show all 22)
idNameStatusNCT IDPhase
1Population Pharmacokinetics and Safety of Intravenous Ceftolozane/Tazobactam in Adult Cystic Fibrosis PatientsRecruitingNCT02421120Phase 4
2NeoGAA Extension StudyRecruitingNCT02032524Phase 2, Phase 3
3Standard or Comprehensive Radiation Therapy in Treating Patients With Early-Stage Breast Cancer Previously Treated With Chemotherapy and SurgeryRecruitingNCT01872975Phase 3
4Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe DiseaseCompletedNCT00976352Phase 1, Phase 2
5The Effect of Triheptanoin in Adults With McArdle Disease (Glycogen Storage Disease Type V)RecruitingNCT02432768Phase 2
6A Trial to Determine the Effects of Exercise in Inflammatory Bowel Disease and Rheumatoid ArthritisRecruitingNCT02463916Phase 2
7Faecal Microbiota Transplantation in Irritable Bowel SyndromeRecruitingNCT02423421Phase 2
8Safety and Efficacy of Albuterol on Motor Function in Individuals With Late-onset Pompe Disease Receiving Enzyme Replacement TherapyActive, not recruitingNCT01885936Phase 1, Phase 2
9Safety and Efficacy of Clenbuterol on Motor Function in Individuals With Late-onset Pompe Disease and Receiving Enzyme Replacement TherapyActive, not recruitingNCT01942590Phase 1, Phase 2
10Triheptanoin in Mc ArdleNot yet recruitingNCT02919631Phase 2
11Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients.CompletedNCT01898364Phase 1
12Safety Study of SGN-CD70A in Cancer PatientsRecruitingNCT02216890Phase 1
13A Safety Study of SGN-CD19B in Patients With B-cell Non-Hodgkin LymphomaRecruitingNCT02702141Phase 1
14The Efficacy of Using Far Infrared Radiation to Manage Muscular DystrophiesActive, not recruitingNCT00674843Phase 1
15Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe DiseaseNot yet recruitingNCT02240407Phase 1
16The Effect of Hyperglycaemia on Local Energy Stores in the Working Muscle in Patients With Type 1 Diabetes MellitusCompletedNCT00325559
17Biomarker for Glycogen Storage DiseasesRecruitingNCT02385162
18Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269
19Biomarker for Pompe DiseaseRecruitingNCT01457443
20Investigating Pompe Prevalence in Neuromuscular Medicine Academic PracticesRecruitingNCT02838368
21Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months (ATBIG-Pompe-Study)RecruitingNCT02824068
22Lipid and Glycogen Metabolism in Patients With Impaired Glucose Tolerance and Calcium Sensing Receptor MutationsRecruitingNCT02023489

Search NIH Clinical Center for Mcardle Disease


Cochrane evidence based reviews: glycogen storage disease type v

Genetic Tests for Mcardle Disease

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Genetic tests related to Mcardle Disease:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease, Type V25
2 Glycogen Storage Disease Type V23 PYGM

Anatomical Context for Mcardle Disease

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MalaCards organs/tissues related to Mcardle Disease:

34
Breast, B cells, Skeletal muscle, Kidney, Brain

Animal Models for Mcardle Disease or affiliated genes

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MGI Mouse Phenotypes related to Mcardle Disease:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5CHKB, GAA, MT-CO1, PFKM, PYGM
2MP:00053867.1ACE, AMPD3, CHKB, GAA, PFKM, PYGM
3MP:00053766.4ACE, AMPD3, CHKB, CPT2, GAA, MT-CO1

Publications for Mcardle Disease

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Articles related to Mcardle Disease:

(show top 50)    (show all 74)
idTitleAuthorsYear
1
Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease. (26913921)
2016
2
Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease. (27303362)
2016
3
Xanthine Oxidase Pathway and Muscle Damage. Insights from McArdle Disease. (26861723)
2016
4
Rhabdomyolysis With Acute Renal Failure Requiring Dialysis in McArdle Disease: A Role for the Antidepressant Venlafaxine? (27300253)
2016
5
Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro. (25762569)
2015
6
Cardiorespiratory fitness, physical activity, and quality of life in patients with McArdle disease. (25058326)
2015
7
Investigating sodium valproate as a treatment for McArdle disease in sheep. (25455802)
2015
8
Recurrent Compartment Syndrome Leading to the Diagnosis of McArdle Disease: Case Report. (26612634)
2015
9
A rare case of multiple sclerosis and McArdle disease. (25987006)
2015
10
Minimal symptoms in McArdle disease: A real PYGM genotype effect? (26228546)
2015
11
Next-generation sequencing to estimate the prevalence of a great unknown: McArdle disease. (26240973)
2015
12
McArdle disease: 2 case reports. (26235145)
2015
13
Lactate and Energy Metabolism During Exercise in Patients With Blocked Glycogenolysis (McArdle Disease). (26030324)
2015
14
The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications. (25053163)
2015
15
Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). (25391139)
2014
16
Severe Axial Myopathy in McArdle Disease. (24216972)
2014
17
From exercise intolerance to functional improvement: the second wind phenomenon in the identification of McArdle disease. (25054987)
2014
18
Emotionally-intense situations can result in rhabdomyolysis in McArdle disease. (25293680)
2014
19
McArdle disease does not affect skeletal muscle fibre type profiles in humans. (25432515)
2014
20
Clinical and laboratory features of patients with myophosphorylase deficiency (McArdle disease). (21658951)
2011
21
Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern. (21880526)
2011
22
Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). (21154353)
2010
23
Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease. (19433441)
2009
24
McArdle disease and sporadic inclusion body myositis. (19220759)
2009
25
McArdle disease revealed by exercise intolerance associated with severe rhabdomyolysis]. (19878922)
2009
26
Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA. (19251976)
2009
27
Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay. (17994553)
2008
28
Recurrent acute kidney failure due to McArdle disease. (19377243)
2008
29
Acute renal failure due to rhabdomyolysis in a child with McArdle disease. (17899190)
2008
30
Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). (18425888)
2008
31
McArdle disease: another systemic low-inflammation disorder? (18162322)
2008
32
A novel PYGM mutation in a Korean patient with McArdle disease: the role of nonsense-mediated mRNA decay. (18667317)
2008
33
Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations. (17404776)
2007
34
A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients. (17221871)
2007
35
Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype-phenotype correlation. (17324573)
2007
36
Massive rhabdomyolysis revealing a McArdle disease]. (17383055)
2007
37
McArdle disease: molecular genetic update. (17915571)
2007
38
Novel mutation in the PYGM gene resulting in McArdle disease. (17172620)
2006
39
Do carriers of PYGM mutations have symptoms of McArdle disease? (16924035)
2006
40
Gentamicin treatment in McArdle disease: failure to correct myophosphorylase deficiency. (16434679)
2006
41
A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease. (15979037)
2005
42
Pathologic quiz case: a man with exertion-induced cramps and myoglobinuria. McArdle disease (glycogenosis type V or myophosphorylase deficiency). (12951997)
2003
43
McArdle disease: report of four brothers with myophosphorylase deficiency]. (11594178)
2001
44
A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease. (10681080)
2000
45
Creatine therapy in myophosphorylase deficiency (McArdle disease): a placebo-controlled crossover trial. (10891977)
2000
46
Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease. (9152836)
1997
47
Three new mutations in patients with myophosphorylase deficiency (McArdle disease). (8279469)
1994
48
Clinical spectrum of McArdle disease: three cases with unusual expression. (8467839)
1993
49
Non-invasive 31P magnetic resonance spectroscopy revealed McArdle disease in an asymptomatic child. (2347342)
1990
50
McArdle disease in a Druze family. (2703328)
1989

Variations for Mcardle Disease

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UniProtKB/Swiss-Prot genetic disease variations for Mcardle Disease:

68 (show all 17)
id Symbol AA change Variation ID SNP ID
1PYGMp.Gly205SerVAR_003431rs119103251
2PYGMp.Leu397ProVAR_003432
3PYGMp.Lys543ThrVAR_003433rs119103252
4PYGMp.Glu655LysVAR_003434rs119103253
5PYGMp.Leu116ProVAR_014002rs776680924
6PYGMp.Arg194TrpVAR_014003rs376581557
7PYGMp.Leu292ProVAR_014004rs780375860
8PYGMp.Glu349LysVAR_014005
9PYGMp.Thr488AsnVAR_014006
10PYGMp.Arg602TrpVAR_014007rs750195683
11PYGMp.Ala660AspVAR_014008
12PYGMp.Gln666GluVAR_014009rs119103256
13PYGMp.Asn685TyrVAR_014010
14PYGMp.Gly686ArgVAR_014011rs144081869
15PYGMp.Ala687ProVAR_014012
16PYGMp.Ala704ValVAR_014013
17PYGMp.Trp798ArgVAR_014015rs119103258

Clinvar genetic disease variations for Mcardle Disease:

5 (show all 31)
id Gene Variation Type Significance SNP ID Assembly Location
1PYGMNM_005609.3(PYGM): c.255C> A (p.Tyr85Ter)single nucleotide variantLikely pathogenic, Pathogenicrs527236146GRCh38Chr 11, 64758693: 64758693
2PYGMNM_005609.3(PYGM): c.2128_2130delTTC (p.Phe710del)deletionLikely pathogenic, Pathogenicrs527236147GRCh38Chr 11, 64750423: 64750425
3PYGMNM_005609.3(PYGM): c.1A> C (p.Met1Leu)single nucleotide variantPathogenicrs267606993GRCh38Chr 11, 64759898: 64759898
4PYGMNM_005609.3(PYGM): c.78_79delTG (p.Glu27Alafs)deletionLikely pathogenicrs755117847GRCh37Chr 11, 64527292: 64527293
5PYGMNM_005609.3(PYGM): c.1797delT (p.Phe599Leufs)deletionLikely pathogenicrs769960481GRCh38Chr 11, 64751627: 64751627
6PYGMNM_005609.3(PYGM): c.808C> T (p.Arg270Ter)single nucleotide variantLikely pathogenicrs767739769GRCh37Chr 11, 64522792: 64522792
7PYGMNM_005609.3(PYGM): c.407delG (p.Gly136Alafs)deletionLikely pathogenicrs786204723GRCh38Chr 11, 64758454: 64758454
8PYGMNM_005609.3(PYGM): c.1768+1G> Asingle nucleotide variantPathogenicrs771427957GRCh37Chr 11, 64519395: 64519395
9PYGMNM_005609.3(PYGM): c.1094C> T (p.Ala365Val)single nucleotide variantLikely pathogenicrs116135678GRCh38Chr 11, 64754024: 64754024
10PYGMNM_005609.3(PYGM): c.148C> T (p.Arg50Ter)single nucleotide variantPathogenicrs116987552GRCh37Chr 11, 64527223: 64527223
11PYGMNM_005609.3(PYGM): c.613G> A (p.Gly205Ser)single nucleotide variantPathogenicrs119103251GRCh37Chr 11, 64525298: 64525298
12PYGMNM_005609.3(PYGM): c.1628A> C (p.Lys543Thr)single nucleotide variantPathogenicrs119103252GRCh37Chr 11, 64519536: 64519536
13PYGMNM_005609.3(PYGM): c.1963G> A (p.Glu655Lys)single nucleotide variantPathogenicrs119103253GRCh37Chr 11, 64518803: 64518803
14PYGMNM_005609.3(PYGM): c.1996C> G (p.Gln666Glu)single nucleotide variantPathogenicrs119103256GRCh37Chr 11, 64518029: 64518029
15PYGMNM_005609.3(PYGM): c.1187T> C (p.Leu396Pro)single nucleotide variantPathogenicrs119103254GRCh37Chr 11, 64521403: 64521403
16PYGMPYGM, IVS14, G-A, +1deletionPathogenic
17PYGMNM_005609.3(PYGM): c.2056G> A (p.Gly686Arg)single nucleotide variantPathogenicrs144081869GRCh37Chr 11, 64517969: 64517969
18PYGMNM_005609.3(PYGM): c.1726C> T (p.Arg576Ter)single nucleotide variantLikely pathogenic, Pathogenicrs119103255GRCh37Chr 11, 64519438: 64519438
19PYGMNM_005609.3(PYGM): c.1725delA (p.Lys575Asnfs)deletionPathogenicrs786200874GRCh37Chr 11, 64519439: 64519439
20PYGMNM_005609.3(PYGM): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs267606993GRCh37Chr 11, 64527370: 64527370
21PYGMNM_005609.3(PYGM): c.1621G> T (p.Glu541Ter)single nucleotide variantPathogenicrs119103257GRCh37Chr 11, 64519543: 64519543
22PYGMPYGM, 1-BP INS, A/8-BP DEL, CODON 387indelPathogenic
23PYGMNM_005609.3(PYGM): c.2392T> C (p.Trp798Arg)single nucleotide variantPathogenicrs119103258GRCh37Chr 11, 64514268: 64514268
24PYGMNM_005609.3(PYGM): c.1827G> A (p.Lys609=)single nucleotide variantPathogenicrs119103259GRCh37Chr 11, 64519069: 64519069
25PYGMNM_005609.3(PYGM): c.1722T> G (p.Tyr574Ter)single nucleotide variantLikely pathogenic, Pathogenicrs119103260GRCh37Chr 11, 64519442: 64519442
26PYGMNM_005609.3(PYGM): c.152A> G (p.Asp51Gly)single nucleotide variantPathogenicrs397514631GRCh37Chr 11, 64527219: 64527219
27PYGMPYGM, 3-BP DEL, 158ACTdeletionPathogenic
28PYGMNM_005609.3(PYGM): c.1366G> A (p.Val456Met)single nucleotide variantLikely pathogenic, Pathogenicrs398124208GRCh37Chr 11, 64521028: 64521028
29PYGMNM_005609.3(PYGM): c.1466C> G (p.Pro489Arg)single nucleotide variantPathogenicrs398124209GRCh37Chr 11, 64520597: 64520597
30PYGMNM_005609.3(PYGM): c.2262delA (p.Lys754Asnfs)deletionPathogenicrs398124210GRCh37Chr 11, 64514746: 64514746
31PYGMNM_005609.3(PYGM): c.645G> A (p.Lys215=)single nucleotide variantPathogenicrs116315896GRCh37Chr 11, 64525266: 64525266

Expression for genes affiliated with Mcardle Disease

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Search GEO for disease gene expression data for Mcardle Disease.

Pathways for genes affiliated with Mcardle Disease

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GO Terms for genes affiliated with Mcardle Disease

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Biological processes related to Mcardle Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glycogen metabolic processGO:000597710.0GAA, PYGM
2IMP salvageGO:00322649.9AMPD1, AMPD3
3muscle cell cellular homeostasisGO:00467169.7GAA, PFKM
4glycogen catabolic processGO:00059809.4GAA, PFKM, PYGM
5purine-containing compound salvageGO:00431019.2AMPD1, AMPD3

Molecular functions related to Mcardle Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1AMP deaminase activityGO:000387610.0AMPD1, AMPD3
2drug bindingGO:00081449.3ACE, PYGM

Sources for Mcardle Disease

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