MCID: MLG086
MIFTS: 45

Malignant Hyperthermia Susceptibility malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Malignant Hyperthermia Susceptibility

About this section

Aliases & Descriptions for Malignant Hyperthermia Susceptibility:

Name: Malignant Hyperthermia Susceptibility 22 23 25
Malignant Hyperpyrexia 22 23
 
Malignant Hyperpyrexia Due to Anesthesia 66

Classifications:



Summaries for Malignant Hyperthermia Susceptibility

About this section
MalaCards based summary: Malignant Hyperthermia Susceptibility, also known as malignant hyperpyrexia, is related to malignant hyperthermia susceptibility 1 and malignant hyperthermia susceptibility 5, and has symptoms including body temperature changes, body temperature changes 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 Celecoxib Pathway, Pharmacodynamics. 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 summary for NBK1146

Related Diseases for Malignant Hyperthermia Susceptibility

About this section

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 43)
idRelated DiseaseScoreTop Affiliating Genes
1malignant hyperthermia susceptibility 112.4
2malignant hyperthermia susceptibility 512.2
3malignant hyperthermia susceptibility type 212.2
4malignant hyperthermia susceptibility type 312.2
5malignant hyperthermia susceptibility type 412.2
6malignant hyperthermia susceptibility type 612.2
7cacna1s-related malignant hyperthermia susceptibility12.1
8mhs2-related malignant hyperthermia susceptibility12.1
9mhs3-related malignant hyperthermia susceptibility12.1
10mhs4-related malignant hyperthermia susceptibility12.1
11mhs6-related malignant hyperthermia susceptibility12.1
12ryr1-related malignant hyperthermia susceptibility12.1
13malignant hyperthermia11.0
14unverricht-lundborg syndrome10.5CACNA1S, RYR1
15myopathy10.3
16pituitary tumors10.2CACNA1S, SCN4A
17myotonia congenita, atypical, acetazolamide-responsive10.2CACNA1S, SCN4A
18hypertelorism, preauricular sinus, punctal pits, and deafness10.2CACNA1S, SCN4A
19orofaciodigital syndrome10.1RYR1, SCN4A
20central core disease10.1
21cylindrical spirals myopathy10.1RYR1, SCN4A
22ciliary dyskinesia, primary, 9, with or without situs inversus10.0CACNA1S, SCN4A
23monocular esotropia10.0CACNA1S, RYR1, SCN4A
24epilepsy, generalized, with febrile seizures plus, type 110.0CACNA1S, RYR1
25hypokalemic periodic paralysis, type 110.0CACNA1S, RYR1, SCN4A
26neuroleptic malignant syndrome10.0
27polycystic kidney disease9.9CACNA1S, SCN4A
28rippling muscle disease9.8
29brody myopathy9.8
30motor neuron disease9.8
31sleep apnea9.8
32obstructive sleep apnea9.8
33scoliosis9.8
34ptosis9.8
35congenital myopathy9.8
36placenta praevia9.8
37osteogenesis imperfecta9.8
38central core myopathy9.8
39neuronitis9.8
40muscular dystrophy9.8
41mitochondrial disorders9.8
42vallecula cancer8.1CACNA1S, CACNG1, CASQ1, MHS2, MHS4, MHS6
43medium-chain acyl-coenzyme a dehydrogenase deficiency6.0CACNA1S, CACNB1, CACNG1, CASQ1, CAV1, MHS2

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



Diseases related to malignant hyperthermia susceptibility

Symptoms for Malignant Hyperthermia Susceptibility

About this section

UMLS symptoms related to Malignant Hyperthermia Susceptibility:


body temperature changes, muscle rigidity, pain, postoperative, postoperative nausea and vomiting, disturbance of thermoregulation of newborn

Drugs & Therapeutics for Malignant Hyperthermia Susceptibility

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
CarboplatinPhase 2194241575-94-410339178, 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
EtoposidePhase 2121033419-42-036462
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
3
Menthol21842216-51-516666
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
4
Adenosine38858-61-760961
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

Interventional clinical trials:

idNameStatusNCT IDPhase
1Chemotherapy Treatment for Children With Intraocular Germ-Line RetinoblastomaActive, not recruitingNCT00179920Phase 2
2Muscle Force Assessment in the Intensive Care Unit and in Primary MyopathiesRecruitingNCT00735384
3Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related ConditionsRecruitingNCT01306994
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 UMLS66/NDF-RT44:

Genetic Tests for Malignant Hyperthermia Susceptibility

About this section

Genetic tests related to Malignant Hyperthermia Susceptibility:

id Genetic test Affiliating Genes
1 Malignant Hyperthermia Susceptibility25 23 RYR1

Anatomical Context for Malignant Hyperthermia Susceptibility

About this section

MalaCards organs/tissues related to Malignant Hyperthermia Susceptibility:

34
Testes, Skeletal muscle, Liver, Placenta

Animal Models for Malignant Hyperthermia Susceptibility or affiliated genes

About this section

MGI Mouse Phenotypes related to Malignant Hyperthermia Susceptibility:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.7CACNA1S, CACNB1, CACNG1, CASQ1, CAV1, RYR1

Publications for Malignant Hyperthermia Susceptibility

About this section

Articles related to Malignant Hyperthermia Susceptibility:

(show top 50)    (show all 214)
idTitleAuthorsYear
1
Hypermetabolism in B-lymphocytes from malignant hyperthermia susceptible individuals. (27646467)
2016
2
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
3
Malignant hyperthermia in Canada: characteristics of index anesthetics in 129 malignant hyperthermia susceptible probands. (23842196)
2014
4
A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease. (22976939)
2013
5
A minimal-invasive metabolic test detects malignant hyperthermia susceptibility in a patient after sevoflurane-induced metabolic crisis. (24455316)
2013
6
Myopathic changes in malignant hyperthermia-susceptible patients. (23897489)
2013
7
Core myopathies and malignant hyperthermia susceptibility: a review. (23617272)
2013
8
New device simplifies workstation preparation for malignant hyperthermia-susceptible patients. (21791993)
2011
9
Effects of theophylline on anesthetized malignant hyperthermia-susceptible pigs. (22131820)
2011
10
Minimally invasive metabolic testing for malignant hyperthermia susceptibility: a systematic review of the methodology and results. (23484448)
2010
11
Effect of prior exercise on thermal sensitivity of malignant hyperthermia-susceptible muscle. (20544946)
2010
12
Preparation of the DrAoger Fabius GS workstation for malignant hyperthermia-susceptible patients. (19399571)
2009
13
The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility. (19807743)
2009
14
Effects of ryanodine on skeletal muscle lactate and pyruvate in malignant hyperthermia-susceptible and normal swine as assessed by microdialysis. (17686208)
2008
15
An in-vivo metabolic test for detecting malignant hyperthermia susceptibility in humans: a pilot study. (18713904)
2008
16
Effects of caffeine, halothane, and 4-chloro-m-cresol on skeletal muscle lactate and pyruvate in malignant hyperthermia-susceptible and normal swine as assessed by microdialysis. (16394695)
2006
17
Phosphodiesterase-III-inhibition with amrinone leads to contracture development in skeletal muscle preparations of malignant hyperthermia susceptible swine. (15892406)
2005
18
Enhanced response to caffeine and 4-chloro-m-cresol in malignant hyperthermia-susceptible muscle is related in part to chronically elevated resting [Ca2+]i. (15537710)
2005
19
Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core disease. (15299003)
2004
20
Reproducibility of in vitro contracture test results in patients tested for malignant hyperthermia susceptibility. (12366511)
2002
21
Phenotyping malignant hyperthermia susceptibility by measuring halothane-induced changes in myoplasmic calcium concentration in cultured human skeletal muscle cells. (12393358)
2002
22
Detection of proton release from cultured human myotubes to identify malignant hyperthermia susceptibility. (12411787)
2002
23
Between-center variability of results of the in vitro contracture test for malignant hyperthermia susceptibility. (10910867)
2000
24
Shortening velocity of skeletal muscle from humans with malignant hyperthermia susceptibility: effects of halothane. (10657553)
2000
25
Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect Of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors. (9502764)
1998
26
Comparison of the segregation of the RYR1 C184OT mutation with segregation of the caffeine/halothane contracture test results for malignant hyperthermia susceptibility in a large Manitoba Mennonite family. (8602659)
1996
27
In vitro diagnosis of malignant hyperthermia susceptibility with ryanodine-induced contractures in human skeletal muscles. (8638796)
1996
28
Malignant hyperthermia susceptibility without central core disease (CCD) in a family where CCD is diagnosed. (7767091)
1995
29
Masseter muscle rigidity and malignant hyperthermia susceptibility in pediatric patients. An update on management and diagnosis. (8010468)
1994
30
Spin resonance spectroscopy to detect malignant hyperthermia susceptibility. (8391293)
1993
31
Phenotypes associated with malignant hyperthermia susceptibility in swine genotyped as homozygous or heterozygous for the ryanodine receptor mutation. (8398525)
1993
32
Pathological findings in 165 patients explored for malignant hyperthermia susceptibility. (8186710)
1993
33
Does postoperative pyrexia indicate malignant hyperthermia susceptibility? (1540466)
1992
34
Unexplained increases in serum creatine kinase levels: its relation to malignant hyperthermia susceptibility. (2018229)
1991
35
Sensitivity and specificity of tests of malignant hyperthermia susceptibility. (1854040)
1991
36
Altered [3H]ryanodine binding is not associated with malignant hyperthermia susceptibility in terminal cisternae preparations from swine. (1877993)
1991
37
Evidence for genetic heterogeneity in malignant hyperthermia susceptibility. (1774061)
1991
38
Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-q13.2. (2379741)
1990
39
Microassay for malignant hyperthermia susceptibility: hypersensitive ligand-gating of the Ca channel in muscle sarcoplasmic reticulum causes increased amounts and rates of Ca-release. (2158620)
1990
40
Canine stress syndrome/malignant hyperthermia susceptibility: calcium-homeostasis defect in muscle and lymphocytes. (2300706)
1990
41
Neuroleptic malignant syndrome and malignant hyperthermia susceptibility. (2244451)
1990
42
Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2. (2300206)
1990
43
Identify malignant hyperthermia susceptibility to avert life-threatening episodes. (2605774)
1989
44
Porcine malignant hyperthermia susceptibility: halothane-induced increase in cytoplasmic free calcium in lymphocytes. (2919818)
1989
45
Malignant hyperthermia susceptibility--successful management with a "stressfree" technique. (3591264)
1987
46
Porcine malignant hyperthermia susceptibility: increased calcium-sequestering activity of skeletal muscle sarcoplasmic reticulum. (3742368)
1986
47
Canine malignant hyperthermia susceptibility: erythrocytic defects--osmotic fragility, glucose-6-phosphate dehydrogenase deficiency and abnormal Ca2+ homeostasis. (6150753)
1984
48
Electrocardiographic abnormalities associated with malignant hyperthermia susceptibility. (7069330)
1982
49
Screening for malignant hyperthermia susceptibility. (6930029)
1980
50
Does prior dantrolene affect the in vitro diagnosis of malignant hyperthermia susceptibility? (526874)
1979

Variations for Malignant Hyperthermia Susceptibility

About this section

Expression for genes affiliated with Malignant Hyperthermia Susceptibility

About this section
Search GEO for disease gene expression data for Malignant Hyperthermia Susceptibility.

Pathways for genes affiliated with Malignant Hyperthermia Susceptibility

About this section

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

(show all 16)
idSuper pathwaysScoreTop Affiliating Genes
19.7CACNA1S, CACNB1
29.7CACNA1S, CACNB1
3
Show member pathways
9.3CACNA1S, CACNB1, CACNG1
49.3CACNA1S, CACNB1, CACNG1
5
Show member pathways
9.3CACNA1S, CACNB1, CACNG1
69.3CACNA1S, CACNB1, CACNG1
79.1CACNA1S, CACNB1, CACNG1, RYR1
89.1CACNA1S, CACNB1, CACNG1, RYR1
9
Show member pathways
9.1CACNA1S, CACNB1, CACNG1, RYR1
109.1CACNA1S, CACNB1, CACNG1, RYR1
11
Show member pathways
9.1CACNA1S, CACNB1, CACNG1, RYR1
12
Show member pathways
9.0CACNA1S, CACNB1, CASQ1, RYR1
13
Show member pathways
8.9CACNA1S, CACNB1, CACNG1, CAV1
14
Show member pathways
8.8CACNA1S, CACNB1, CACNG1, SCN4A
15
Show member pathways
8.5CACNA1S, CACNB1, CACNG1, RYR1, SCN4A
16
Show member pathways
8.3CACNA1S, CACNB1, CACNG1, CAV1, SCN4A

GO Terms for genes affiliated with Malignant Hyperthermia Susceptibility

About this section

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

idNameGO IDScoreTop Affiliating Genes
1terminal cisternaGO:001480210.1CASQ1, RYR1
2sarcoplasmic reticulumGO:00165299.9CASQ1, RYR1
3sarcoplasmic reticulum membraneGO:00330179.8CASQ1, RYR1
4T-tubuleGO:00303159.7CACNA1S, CASQ1, RYR1
5I bandGO:00316749.6CACNA1S, CASQ1, RYR1
6smooth endoplasmic reticulumGO:00057909.5CASQ1, RYR1
7voltage-gated calcium channel complexGO:00058919.5CACNA1S, CACNB1, CACNG1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1membrane depolarization during action potentialGO:008601010.2CACNA1S, SCN4A
2regulation of cytosolic calcium ion concentrationGO:005148010.1CAV1, RYR1
3cardiac conductionGO:00613379.8CACNA1S, CACNB1, CACNG1
4lactationGO:00075959.6CAV1, NME1
5regulation of ion transmembrane transportGO:00347659.6CACNA1S, CACNG1, SCN4A
6skeletal muscle tissue developmentGO:00075199.5CASQ1, CAV1
7regulation of cardiac conductionGO:19037799.5CASQ1, RYR1
8calcium ion transportGO:00068169.5CACNA1S, CAV1, RYR1
9calcium ion transmembrane transportGO:00705889.5CACNA1S, CACNB1, CACNG1
10muscle contractionGO:00069369.1CACNA1S, 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:00083319.4CACNA1S, CACNB1
2voltage-gated calcium channel activityGO:00052459.1CACNA1S, CACNB1, CACNG1, RYR1

Sources for Malignant Hyperthermia Susceptibility

About this section
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