MCID: MLG086
MIFTS: 45

Malignant Hyperthermia Susceptibility malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs

Aliases & Classifications for Malignant Hyperthermia Susceptibility

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Aliases & Descriptions for Malignant Hyperthermia Susceptibility:

Name: Malignant Hyperthermia Susceptibility 23 24 27
Malignant Hyperpyrexia 23 24
 
Malignant Hyperpyrexia Due to Anesthesia 68

Characteristics:

GeneReviews:

23
Penetrance: the penetrance of mh susceptibility is unknown. what is known is that up to 50% of individuals with mh susceptibility have undergone anesthesia uneventfully despite use of one of the agents known to trigger mh...


Classifications:

MalaCards categories:
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)

Summaries for Malignant Hyperthermia Susceptibility

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MalaCards based summary: Malignant Hyperthermia Susceptibility, also known as malignant hyperpyrexia, is related to malignant hyperthermia susceptibility 5 and malignant hyperthermia susceptibility 1, and has symptoms including fever, fever and muscle rigidity. An important gene associated with Malignant Hyperthermia Susceptibility is RYR1 (Ryanodine Receptor 1), and among its related pathways are NCAM1 interactions and Dilated cardiomyopathy. The drugs dantrolene and dantrolene sodium have been mentioned in the context of this disorder. Affiliated tissues include testes, skeletal muscle and liver, and related mouse phenotype muscle.

GeneReviews for NBK1146

Related Diseases for Malignant Hyperthermia Susceptibility

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Diseases in the Malignant Hyperthermia Susceptibility family:

Malignant Hyperthermia Susceptibility 5 Malignant Hyperthermia Susceptibility 1
Malignant Hyperthermia Susceptibility Type 2 Malignant Hyperthermia Susceptibility Type 3
Malignant Hyperthermia Susceptibility Type 4 Malignant Hyperthermia Susceptibility Type 6
Cacna1s-Related Malignant Hyperthermia Susceptibility Mhs2-Related Malignant Hyperthermia Susceptibility
Mhs3-Related Malignant Hyperthermia Susceptibility Mhs4-Related Malignant Hyperthermia Susceptibility
Mhs6-Related Malignant Hyperthermia Susceptibility Ryr1-Related Malignant Hyperthermia Susceptibility

Diseases related to Malignant Hyperthermia Susceptibility via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1malignant hyperthermia susceptibility 533.3CACNA1S, RYR1, SCN4A
2malignant hyperthermia susceptibility 112.3
3malignant hyperthermia susceptibility type 212.1
4malignant hyperthermia susceptibility type 312.1
5malignant hyperthermia susceptibility type 412.1
6malignant hyperthermia susceptibility type 612.1
7cacna1s-related malignant hyperthermia susceptibility12.0
8mhs2-related malignant hyperthermia susceptibility12.0
9mhs3-related malignant hyperthermia susceptibility12.0
10mhs4-related malignant hyperthermia susceptibility12.0
11mhs6-related malignant hyperthermia susceptibility12.0
12ryr1-related malignant hyperthermia susceptibility12.0
13malignant hyperthermia10.9
14primary pulmonary lymphoma10.2CACNA1S, RYR1
15glaucoma 1, open angle, p10.2CACNA1S, RYR1
16myopathy10.2
17repetitive motion disorders10.2CACNA1S, SCN4A
18premature ovarian failure 510.2RYR1, SCN4A
19myotonia congenita, atypical, acetazolamide-responsive10.1CACNA1S, SCN4A
20b cell deficiency10.1RYR1, SCN4A
21hypothyroidism, congenital, nongoitrous, 110.1CACNA1S, SCN4A
22epilepsy, generalized, with febrile seizures plus, type 110.1CACNA1S, RYR1
23pediatric angiosarcoma10.1RYR1, SCN4A
24raynaud disease10.1CACNA1S, RYR1, SCN4A
25esophageal leukoplakia10.1CACNA1S, SCN4A
26ciliary dyskinesia, primary, 9, with or without situs inversus10.0CACNA1S, SCN4A
27central core disease9.9
28neuroleptic malignant syndrome9.9
29rippling muscle disease9.7
30brody myopathy9.7
31motor neuron disease9.7
32sleep apnea9.7
33obstructive sleep apnea9.7
34scoliosis9.7
35ptosis9.7
36thrombosis9.7
37congenital myopathy9.7
38placenta praevia9.7
39osteogenesis imperfecta9.7
40neuronitis9.7
41muscular dystrophy9.7
42mitochondrial disorders9.7
43soft palate cancer9.7CACNA1S, CACNG1, CASQ1, RYR1, SCN4A
44multiminicore disease8.4CACNA1S, CACNB1, CACNG1, CASQ1, CAV1, MHS2

Graphical network of the top 20 diseases related to Malignant Hyperthermia Susceptibility:



Diseases related to malignant hyperthermia susceptibility

Symptoms & Phenotypes for Malignant Hyperthermia Susceptibility

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UMLS symptoms related to Malignant Hyperthermia Susceptibility:


fever, muscle rigidity, pain, postoperative, postoperative nausea and vomiting

MGI Mouse Phenotypes related to Malignant Hyperthermia Susceptibility according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.8CACNA1S, CACNB1, CACNG1, CASQ1, CAV1, RYR1

Drugs & Therapeutics for Malignant Hyperthermia Susceptibility

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Drugs for Malignant Hyperthermia Susceptibility (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
CarboplatinapprovedPhase 2205041575-94-410339178, 498142, 38904
Synonyms:
(SP-4-2)-diammine[cyclobutane-1,1-dicarboxylato(2-)-kappa(2)O,O']platinum
/h1-3H2,(H,7,8)(H,9,10)
/q
1,1-Cyclobutanedicarboxylate diammine platinum (II)
1,1-Cyclobutanedicarboxylate diammine platinum(II)
2*-1
2*1H2
41575-94-4
70903-55-8
AC-1457
AC1L8I6U
Ambap41575-94-4
BSPBio_003145
C 2538
C2043
C2538_SIGMA
C6H10N2O4Pt
CBDCA
CCRIS 3404
CHEBI:31355
CHEMBL1351
CHEMBL288376
CID10339178
CID2567
CID38904
CID426756
CID498142
CID5352133
CID6398587
CID6603770
Carbopaltin
Carboplatin
Carboplatin (JAN/USP/INN)
Carboplatin (USAN)
Carboplatin [USAN:INN:BAN:JAN]
Carboplatine
Carboplatine [French]
Carboplatino
Carboplatino [Spanish]
Carboplatinum
Carboplatinum [Latin]
Cbdca
Cyclobutane-1,1-dicarboxylate
D01363
DB00958
Diammine(1,1-cyclobutanedicarboxylato)platinum (II)
Diammine(cyclobutane-1,1-dicarboxylato(2-)-O,O')platinum
Diammine-1,1-cyclobutane dicarboxylate platinum II
DivK1c_000892
EINECS 255-446-0
EU-0100230
Ercar
HMS1921J16
HMS2090M05
HMS2092B22
HMS502M14
HSDB 6957
I14-2390
IDI1_000892
IUPAC: Azane
InChI=1/C6H8O4.2H2N.Pt/c7-4(8)6(5(9)10)2-1-3-6
 
JM 8
JM-8
KBio1_000892
KBio2_002009
KBio2_004577
KBio2_007145
KBio3_002645
KBioGR_000713
KBioSS_002009
LS-117689
Lopac-C-2538
Lopac0_000230
MolPort-003-665-501
MolPort-003-845-609
NCGC00015223-01
NCGC00093695-01
NCGC00094961-01
NCGC00094961-02
NCGC00094961-03
NCGC00162099-01
NCGC00162099-02
NCGC00167800-01
NCGC00178242-01
NINDS_000892
NSC 201345
NSC 241240
NSC-241240
NSC201345
NSC241240
Paraplatin
Paraplatin (TN)
Paraplatin, Carboplatin
Paraplatin-AQ
Platinum(+2) Cation
Platinum(II), (1, 1-cyclobutanedicar
Platinum, diammine(1,1-cyclobutanedicarboxylato(2-)-O,O')-, (SP-4-2)
Platinum, {diammine[1,1-cyclobut
S1215_Selleck
SPBio_000716
SPECTRUM1502106
Spectrum2_000898
Spectrum3_001503
Spectrum4_000337
Spectrum5_001094
Spectrum_001529
UNII-BG3F62OND5
azanide
carboplatin
cis -Diammine[1,1-cyclobutane-dicarboxylato] platinum
cis-(1,1-Cyclobutanedicarboxylato)diammineplatinum(II)
cis-(1,1-Cyclobutanedicarboxylato)diammineplatinum(ii)
cis-Diamine(1,1-cyclobutanedicarboxylato)platinum(II)
cis-Diamine[1,1-cyclobutanedicarboxylato]platinum(II)
cis-Diammine(1,1-cyclobutanedicarboxylato) platinum
cis-Diammine(1,1-cyclobutanedicarboxylato)platinum
cis-Diammine(1,1-cyclobutanedicarboxylato)platinum(II)
cis-Diammine(cyclobutanedicarboxylato)platinum II
cyclobutane-1,1-dicarboxylic acid
diammine[cyclobutane-1,1-dicarboxylato(2-)-k2O1,O1]platinum
nchembio.573-comp10
nchembio773-comp2
nchembio873-comp3
platinum(2+)
2
EtoposideapprovedPhase 2126933419-42-036462
Synonyms:
(-)-Etoposide
121471-01-0
136598-18-0
201594-04-9
33419-42-0
35317-32-9
4'-Demethyl-epipodophyllotoxin 9-[4,6-O-(R)-ethylidene-beta-D-glucopyranoside
4'-Demethylepipodophyllotoxin 9-(4,6-O-(R)-ethylidene-beta-D-glucopyranoside)
4'-Demethylepipodophyllotoxin 9-(4,6-O-ethylidene-beta-D-glucopyranoside)
4'-Demethylepipodophyllotoxin ethylidene-.beta.-D-glucoside
4'-O-Demethyl-1-O-(4,6-O-ethylidene-beta-D-glucopyranosyl)epipodophyllotoxin
4-Demethylepipodophyllotoxin beta-D-ethylideneglucoside
4-Demethylepipodophyllotoxin-.beta.-D-ethylideneglucoside
51854-34-3
76576-58-4
9-((4,6-O-Ethylidine-beta-D-glucopyranosyl)oxy)-5,8,8a,9-tetrahydro-5-(4-hydroxy-3,4-dimethyloxyphenyl)furo(3',4'':6,7)naptho-(2,3-D)-1,3-dioxol-6(5ah)-one
AB00438905
AC1L1FN8
AC1L1VT3
AC1L6246
AC1NR4OG
AC1O4WGG
AC1O7M1N
AC1Q47JJ
Ambap33419-42-0
BPBio1_000673
BRD-K37798499-001-02-5
BSPBio_000611
Bio1_000489
Bio1_000978
Bio1_001467
C01576
CCRIS 2392
CHEBI:4911
CHEBI:588795
CHEMBL44657
CID11758093
CID284997
CID3310
CID36462
CID5284558
CID6419930
CID6610299
CPD000112002
D00125
DB00773
DEMETHY-EPIPODOPHYLLOTOXIN,ETHYLIDENE GLUCOSIDE,
Demethyl Epipodophyllotoxin Ethylidine Glucoside
Demethyl-epiodophyllotoxin ethylidene glucoside
Demethylepipodophyllotoxin-beta-D-ethylideneglucoside
E0675
E1383_SIGMA
EINECS 251-509-1
EPE
EPEG
ETOP
Epipodophyllotoxin
Epipodophyllotoxin VP-16213
Epipodophyllotoxin, 4'-demethyl-, 4,6-O-ethylidene-.beta.-D-glucopyranoside
Epipodophyllotoxin, 4'-demethyl-, 4,6-O-ethylidene-beta-D-glucopyranoside
Epipodophyllotoxin, 4'-demethyl-, 4,6-O-ethylidene-beta-D-glucopyranoside (8CI)
Epipodophyllotoxin, 4'-demethyl-, 9-(4,6-O-ethylidene-.beta.-D-glucopyranoside)
Epipodophyllotoxin, 4'-demethyl-, 9-(4,6-O-ethylidene-beta-D-glucopyranoside)
Eposide
Eposin
 
Eposin, Vepesid, VP-16, Toposar, Etoposide
Etopol
Etopophos
Etopophos (phosphate salt)
Etoposid
Etoposide
Etoposide (JP15/USP/INN)
Etoposide (VP16)
Etoposide [USAN:INN:BAN:JAN]
Etoposido
Etoposido [INN-Spanish]
Etoposidum
Etoposidum [INN-Latin]
Etosid
HMS1569O13
HMS2052N05
HMS2089F14
HSDB 6517
I06-0248
KBioSS_002410
LS-1214
Lastet
MLS000049957
MLS001074951
MLS001424283
MLS002153463
MLS002207239
MLS002222184
MolPort-003-983-431
MolPort-004-905-001
MolPort-004-955-161
NCGC00025056-02
NChemBio.2007.10-comp19
NK 171
NSC 141540
NSC-141540
NSC141540
Prestwick0_000396
Prestwick1_000396
Prestwick2_000396
Prestwick3_000396
Prestwick_211
S1225_Selleck
SAM001246880
SMR000112002
SPBio_002532
ST056353
Toposar
UNII-6PLQ3CP4P3
VP 16
VP 16 (pharmaceutical)
VP 16-213
VP 16213
VP-16
VP-16-213
VePESID (TN)
VePesid
Vepesid
Vepesid J
Vepeside
ZINC03830818
ZINC03938684
Zuyeyidal
etoposide
nchembio.573-comp8
nchembio873-comp2
trans-Etoposide
3Etoposide phosphatePhase 21269
4
Mentholapproved26062216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
5
Adenosineapproved, investigational41958-61-760961
Synonyms:
(2R,3R,4S,5R)-2-(6-Aminopurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3R,4S,5R)-2-(6-amino-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-D-Ribofuranose
1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-delta-Ribofuranose
1odi
2fqy
2gl0
30143-02-3
4-Aminopyrazolo[3,4-d]pyrimidine ribonucleoside
46946-45-6
46969-16-8
58-61-7
6-Amino-9-.beta.-ribofuranosyl-9H-purine
6-Amino-9-beta-D-ribofuranosyl-9H-purine
6-Amino-9beta-D-ribofuranosyl-9H-purine
6-Amino-9beta-delta-ribofuranosyl-9H-purine
9-(beta-D-Arabinofuranosyl)adenine
9-beta-D-Arabinofuranosyladenine
9-beta-D-Ribofuranosidoadenine
9-beta-D-Ribofuranosyl-9H-purin-6-amine
9-beta-D-Ribofuranosyladenine
9-beta-delta-Arabinofuranosyladenine
9-beta-delta-Ribofuranosidoadenine
9-beta-delta-Ribofuranosyl-9H-purin-6-amine
9-beta-delta-Ribofuranosyladenine
9beta-D-Ribofuranosyladenine
9beta-D-ribofuranosyl-9H-Purin-6-amine
9beta-delta-Ribofuranosyladenine
9beta-delta-ribofuranosyl-9H-Purin-6-amine
A0152
A4036_SIGMA
A9251_SIGMA
AC1L1U8O
AC1Q1ID3
AC1Q52XU
ADN
AI3-52413
Ade-Rib
Ade-rib
Adenin riboside
Adenine 9-beta-D-arabinofuranoside
Adenine deoxyribonucleoside
Adenine nucleoside
Adenine riboside
Adenine-9-beta-D-ribofuranoside
Adenine-9beta-D-Ribofuranoside
Adenine-9beta-delta-Ribofuranoside
Adenocard
Adenocard (TN)
Adenocard, Adenosine
Adenocor
Adenoscan
Adenoscan (TN)
Adenosin
Adenosin [German]
Adenosina
Adenosine (JAN/USP)
Adenosine [USAN:BAN]
Adenosine, homopolymer
Adenosinum
Adensoine
Adenyldeoxyriboside
Ado
Adénosine
BB_NC-0565
BSPBio_001796
Bio1_000437
 
Bio1_000926
Bio1_001415
Boniton
C00212
CCRIS 2557
CHEBI:16335
CHEMBL477
CID60961
Caswell No. 010B
D000241
D00045
DB00640
Deoxyadenosine
Desoxyadenosine
EA6C60C2-6AFB-4264-A2F0-541373DB950E
EINECS 200-389-9
FT-0082881
HMS1920A13
HMS2091G13
KBio3_001296
LS-15085
MEDR-640
MLS000069638
MLS002153227
MolPort-001-838-229
Myocol
NCGC00023673-03
NCGC00023673-04
NCGC00023673-05
NCGC00023673-06
NCGC00023673-07
NSC 627048
NSC 7652
NSC627048
NSC7652
Nucleocardyl
Pallacor
Polyadenosine
Polyriboadenosine
S1647_Selleck
SDCCGMLS-0003108.P003
SMR000058216
SPBio_001194
SPECTRUM1500107
SR 96225
SR-96225
SUN-Y4001
Sandesin
Spectrum2_001257
Spectrum3_000288
TL8003749
UNII-K72T3FS567
USAF CB-10
V0098
Vidarabine
ZINC02169830
adenine-D-ribose
adenosine
b-D-Adenosine
beta-Adenosine
beta-D-Adenosine
beta-D-Ribofuranoside, adenine-9
beta-delta-Adenosine
bmse000061
nchembio.143-comp9
nchembio.186-comp109
nchembio.2007.56-comp13
nchembio.64-comp4
nchembio706-5
6Peripheral Nervous System Agents23689
7Vasodilator Agents3543
8Analgesics11733
9Anti-Arrhythmia Agents3093
10Neurotransmitter Agents18340

Interventional clinical trials:

idNameStatusNCT IDPhase
1Chemotherapy Treatment for Children With Intraocular Germ-Line RetinoblastomaUnknown statusNCT00179920Phase 2
2Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related ConditionsUnknown statusNCT01306994
3Muscle Force Assessment in the Intensive Care Unit and in Primary MyopathiesRecruitingNCT00735384
4Effectiveness of Carbon Filters to Reduce the Anesthetic Gas Concentration in an Anesthetized PatientWithdrawnNCT01624558

Search NIH Clinical Center for Malignant Hyperthermia Susceptibility

Inferred drug relations via UMLS68/NDF-RT46:

Genetic Tests for Malignant Hyperthermia Susceptibility

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Genetic tests related to Malignant Hyperthermia Susceptibility:

id Genetic test Affiliating Genes
1 Malignant Hyperthermia Susceptibility27 24 RYR1

Anatomical Context for Malignant Hyperthermia Susceptibility

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MalaCards organs/tissues related to Malignant Hyperthermia Susceptibility:

36
Testes, Skeletal muscle, Liver, Placenta

Publications for Malignant Hyperthermia Susceptibility

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Articles related to Malignant Hyperthermia Susceptibility:

(show top 50)    (show all 218)
idTitleAuthorsYear
1
Malignant Hyperthermia Susceptibility and Fitness for Duty. (28290972)
2017
2
Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review. (28326467)
2017
3
Muscular body build and male sex are independently associated with malignant hyperthermia susceptibility. (28063098)
2017
4
Hypermetabolism in B-lymphocytes from malignant hyperthermia susceptible individuals. (27646467)
2016
5
A rare genetic variant of the ryanodine receptor in a suspected malignant hyperthermia susceptible patient. (27555149)
2016
6
Long term oral Dantrolene Improved Muscular Symptoms in a Malignant Hyperthermia Susceptible Individual. (27854207)
2016
7
Using a Vulnerability Theoretical Model to Assess the Malignant Hyperthermia Susceptible Population: Implications for Advanced Practice Emergency Nurses. (26218487)
2015
8
Effect of caffeine on intrinsic mechanical properties of normal and malignant hyperthermia-susceptible muscle. (25619865)
2015
9
Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations. (26691049)
2015
10
Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy. (25958340)
2015
11
European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility. (26188342)
2015
12
Manufacturer's response to Bilmen and Gillies' manuscript entitled "Clarifying the role of activated charcoal filters in preparing an anaesthetic workstation for malignant hyperthermia-susceptible patients". (25342416)
2014
13
Functional characterisation of the R2452W ryanodine receptor variant associated with malignant hyperthermia susceptibility. (25086907)
2014
14
Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility. (25614869)
2014
15
Malignant hyperthermia in Canada: characteristics of index anesthetics in 129 malignant hyperthermia susceptible probands. (23842196)
2014
16
Core myopathies and malignant hyperthermia susceptibility: a review. (23617272)
2013
17
A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease. (22976939)
2013
18
Activated charcoal adsorption of volatile anesthetic agents for anesthesia machine preparation of malignant hyperthermia susceptible patients. (23923663)
2013
19
CASQ1 gene is an unlikely candidate for malignant hyperthermia susceptibility in the North American population. (23460944)
2013
20
Myopathic changes in malignant hyperthermia-susceptible patients. (23897489)
2013
21
Using exome data to identify malignant hyperthermia susceptibility mutations. (24195946)
2013
22
Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations. (23476141)
2013
23
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. (23558838)
2013
24
A minimal-invasive metabolic test detects malignant hyperthermia susceptibility in a patient after sevoflurane-induced metabolic crisis. (24455316)
2013
25
Analysis of histomorphology in malignant hyperthermia-susceptible patients. (23888335)
2013
26
Sevoflurane is less sensitive than halothane for in vitro detection of malignant hyperthermia susceptibility. (23957432)
2013
27
Gene dose influences cellular and calcium channel dysregulation in heterozygous and homozygous T4826I-RYR1 malignant hyperthermia-susceptible muscle. (22139840)
2012
28
Preparation of Datex-Ohmeda Aestiva and Aisys anaesthetic machines for use in malignant hyperthermia susceptible patients. (22577915)
2012
29
Ondansetron-induced muscular contractures in malignant hyperthermia-susceptible individuals. (22696611)
2012
30
Oxidative capacity and fatigability in run-trained malignant hyperthermia-susceptible mice. (22431093)
2012
31
3,4-Methylenedioxymethamphetamine (Ecstasy) increases the sensitivity of the contractile apparatus to calcium ions in both malignant hyperthermia-susceptible and normal skeletal muscle fibres. (22089516)
2012
32
3,5-Di-t-butyl catechol is a potent human ryanodine receptor 1 activator, not suitable for the diagnosis of malignant hyperthermia susceptibility. (22480578)
2012
33
A medical student with malignant hyperthermia susceptibility. (22417041)
2012
34
Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca2+ channel and the type 1 ryanodine receptor. (22547813)
2012
35
A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility. (22030266)
2012
36
Preparation of modern anesthesia workstations for malignant hyperthermia-susceptible patients: when are they really clean? (21791992)
2011
37
Basal bioenergetic abnormalities in skeletal muscle from ryanodine receptor malignant hyperthermia-susceptible R163C knock-in mice. (20978128)
2011
38
Functional and biochemical properties of ryanodine receptor type 1 channels from heterozygous R163C malignant hyperthermia-susceptible mice. (21156754)
2011
39
Cardiopulmonary bypass in malignant hyperthermia susceptible patients: a systematic review of published cases. (21376345)
2011
40
New device simplifies workstation preparation for malignant hyperthermia-susceptible patients. (21791993)
2011
41
Renal transplantation from an unrelated living donor to a malignant hyperthermia-susceptible patient: a case report. (23256268)
2011
42
Effects of theophylline on anesthetized malignant hyperthermia-susceptible pigs. (22131820)
2011
43
Preparation of modern anesthesia workstations for malignant hyperthermia-susceptible patients: a review of past and present practice. (21169802)
2011
44
Sevoflurane as a potential replacement for halothane in diagnostic testing for malignant hyperthermia susceptibility: results of a preliminary study. (21730923)
2011
45
Minimally invasive metabolic testing for malignant hyperthermia susceptibility: a systematic review of the methodology and results. (23484448)
2010
46
Store-operated Ca2+ entry in malignant hyperthermia-susceptible human skeletal muscle. (20566647)
2010
47
Statins alter intracellular calcium homeostasis in malignant hyperthermia susceptible individuals. (20955541)
2010
48
Effect of prior exercise on thermal sensitivity of malignant hyperthermia-susceptible muscle. (20544946)
2010
49
Malignant hyperthermia susceptibility in a patient with mitochondrial disorder. (19714456)
2009
50
Novel variants near the central domain of RYR1 in two malignant hyperthermia-susceptible families from Taiwan. (19762757)
2009

Variations for Malignant Hyperthermia Susceptibility

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Expression for genes affiliated with Malignant Hyperthermia Susceptibility

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Search GEO for disease gene expression data for Malignant Hyperthermia Susceptibility.

Pathways for genes affiliated with Malignant Hyperthermia Susceptibility

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Pathways related to Malignant Hyperthermia Susceptibility according to GeneCards Suite gene sharing:

(show all 16)
idSuper pathwaysScoreTop Affiliating Genes
1
NCAM1 interactions60
9.7CACNA1S, CACNB1
2
Dilated cardiomyopathy34
Show member pathways
9.3CACNA1S, CACNB1, CACNG1
3
Dopamine-DARPP32 Feedback onto cAMP Pathway58
9.3CACNA1S, CACNB1, CACNG1
4
Arrhythmogenic right ventricular cardiomyopathy (ARVC)34
Show member pathways
9.3CACNA1S, CACNB1, CACNG1
5
Fc-GammaR Pathway58
Show member pathways
9.3CACNA1S, CACNB1, CACNG1
6
Cardiac muscle contraction34
9.3CACNA1S, CACNB1, CACNG1
7
Presenilin-Mediated Signaling58
9.0CACNA1S, CACNB1, CACNG1, RYR1
8
Netrin Signaling58
9.0CACNA1S, CACNB1, CACNG1, RYR1
9
DREAM Repression and Dynorphin Expression58
Show member pathways
9.0CACNA1S, CACNB1, CACNG1, RYR1
10
Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics56
9.0CACNA1S, CACNB1, CACNG1, RYR1
11
Vascular smooth muscle contraction34
Show member pathways
9.0CACNA1S, CACNB1, CACNG1, RYR1
12
Phase 0 - rapid depolarisation60
Show member pathways
9.0CACNA1S, CACNB1, CACNG1, SCN4A
13
Myometrial Relaxation and Contraction Pathways42
Show member pathways
8.9CACNA1S, CACNB1, CASQ1, RYR1
14
Development Ligand-independent activation of ESR1 and ESR265
Show member pathways
8.9CACNA1S, CACNB1, CACNG1, CAV1
15
Cardiac conduction60
Show member pathways
8.7CACNA1S, CACNB1, CACNG1, RYR1, SCN4A
16
G-Beta Gamma Signaling58
Show member pathways
8.5CACNA1S, CACNB1, CACNG1, CAV1, SCN4A

GO Terms for genes affiliated with Malignant Hyperthermia Susceptibility

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Cellular components related to Malignant Hyperthermia Susceptibility according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sarcoplasmic reticulumGO:001652910.3CASQ1, RYR1
2sarcoplasmic reticulum membraneGO:003301710.3CASQ1, RYR1
3smooth endoplasmic reticulumGO:000579010.2CASQ1, RYR1
4terminal cisternaGO:001480210.1CASQ1, RYR1
5I bandGO:003167410.0CACNA1S, CASQ1, RYR1
6T-tubuleGO:00303159.9CACNA1S, CASQ1, RYR1
7voltage-gated calcium channel complexGO:00058919.3CACNA1S, CACNB1, CACNG1

Biological processes related to Malignant Hyperthermia Susceptibility according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1cellular response to caffeineGO:007131310.6CACNA1S, RYR1
2membrane depolarization during action potentialGO:008601010.5CACNA1S, SCN4A
3regulation of cytosolic calcium ion concentrationGO:005148010.4CAV1, RYR1
4ion transmembrane transportGO:003422010.1CASQ1, RYR1, SCN4A
5cardiac conductionGO:006133710.0CACNA1S, CACNB1, CACNG1
6muscle contractionGO:00069369.8CACNA1S, CACNG1, RYR1, SCN4A
7calcium ion transmembrane transportGO:00705889.8CACNA1S, CACNB1, CACNG1, RYR1
8skeletal muscle tissue developmentGO:00075199.6CASQ1, CAV1
9calcium ion transportGO:00068169.3CACNA1S, CACNB1, CACNG1, CAV1, RYR1
10ion transportGO:00068119.3CACNA1S, CACNB1, CACNG1, RYR1, SCN4A
11regulation of ion transmembrane transportGO:00347659.1CACNA1S, CACNB1, CACNG1, RYR1, SCN4A

Molecular functions related to Malignant Hyperthermia Susceptibility according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1high voltage-gated calcium channel activityGO:000833110.1CACNA1S, CACNB1
2calcium channel activityGO:00052629.5CACNA1S, CACNB1, CACNG1, RYR1
3voltage-gated calcium channel activityGO:00052459.0CACNA1S, CACNB1, CACNG1, RYR1

Sources for Malignant Hyperthermia Susceptibility

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z