MCID: CPT004
MIFTS: 52

Cpt Deficiency, Hepatic, Type Ii malady

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

Aliases & Classifications for Cpt Deficiency, Hepatic, Type Ii

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Cpt Deficiency, Hepatic, Type Ii:

Name: Cpt Deficiency, Hepatic, Type Ii 51 12
Carnitine Palmitoyltransferase Ii Deficiency 11 23 24 25 53 49 13
Cpt Ii Deficiency 23 24 25
Carnitine Palmitoyltransferase Ii Deficiency, Infantile 51 67
Carnitine Palmitoyltransferase 2 Deficiency Infantile 69 26
Carnitine Palmitoyltransferase Deficiency Type 2 47 53
Carnitine Palmitoyltransferase Ii Deficiency 47 26
Carnitine Palmitoyl Transferase 2 Deficiency 38 67
Carnitine Palmitoyltransferase 2 Deficiency 47 25
Cpt2 47 53
Carnitine Palmitoyl Transferase Deficiency Type 2, Hepatocardiomuscular Form 53
Carnitine Palmitoyl Transferase Ii Deficiency, Hepatocardiomuscular Form 53
Carnitine Palmitoyl Transferase Deficiency Type 2, Severe Infantile Form 53
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form 53
 
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 67
Lethal Neonatal Carnitine Palmitoyltransferase Ii Deficiency 11
Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset 67
Late-Onset Carnitine Palmitoyltransferase Ii Deficiency 11
Infantile Carnitine Palmitoyltransferase Ii Deficiency 11
Carnitine Palmitoyltransferase Ii 12
Cptii, Hepatocardiomuscular Form 53
Cpt2, Hepatocardiomuscular Form 53
Cptii, Severe Infantile Form 53
Cpt2, Severe Infantile Form 53
Cpt2 Deficiency 25
Cpt-Ii 11
Cpt2di 69
Cptii 53

Characteristics:

Orphanet epidemiological data:

53
carnitine palmitoyltransferase ii deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (United States),1-9/100000 (Europe); Age of onset: All ages
carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood

HPO:

63
cpt deficiency, hepatic, type ii:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM51 600649
Disease Ontology11 DOID:0060235
MeSH38 C535589
NCIt44 C114766
SNOMED-CT61 238002005
ICD10 via Orphanet30 E71.3
MESH via Orphanet39 C535589
UMLS via Orphanet68 C0342790
MedGen36 C1833511

Summaries for Cpt Deficiency, Hepatic, Type Ii

About this section
UniProtKB/Swiss-Prot:69 Carnitine palmitoyltransferase 2 deficiency infantile: A disorder of mitochondrial long-chain fatty acid oxidation characterized by hepatic or hepato-cardio-muscular manifestations with onset in infancy. Clinical features include hypoketotic hypoglycemia, lethargy, seizures, hepatomegaly, liver dysfunction, cardiomegaly and dilated cardiomyopathy.

MalaCards based summary: Cpt Deficiency, Hepatic, Type Ii, also known as carnitine palmitoyltransferase ii deficiency, is related to myopathy due to cpt ii deficiency and cpt ii deficiency, lethal neonatal, and has symptoms including hypertrophic cardiomyopathy, hypoglycemia and hepatomegaly. An important gene associated with Cpt Deficiency, Hepatic, Type Ii is CPT2 (Carnitine Palmitoyltransferase 2), and among its related pathways are Development_Leptin signaling via PI3K-dependent pathway and Signaling by Retinoic Acid. Affiliated tissues include liver, kidney and brain, and related mouse phenotypes are homeostasis/metabolism and mortality/aging.

Disease Ontology:11 A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.

Genetics Home Reference:25 Carnitine palmitoyltransferase II (CPT II) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT II deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form.

Description from OMIM:51 600649

GeneReviews for NBK1253

Related Diseases for Cpt Deficiency, Hepatic, Type Ii

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Graphical network of diseases related to Cpt Deficiency, Hepatic, Type Ii:



Diseases related to cpt deficiency, hepatic, type ii

Symptoms for Cpt Deficiency, Hepatic, Type Ii

About this section

Symptoms by clinical synopsis from OMIM:

600649

Clinical features from OMIM:

600649

Human phenotypes related to Cpt Deficiency, Hepatic, Type Ii:

 63 53 (show all 33)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertrophic cardiomyopathy63 hallmark (90%) HP:0001639
2 hypoglycemia63 53 hallmark (90%) Occasional (29-5%) HP:0001943
3 hepatomegaly63 53 hallmark (90%) Very frequent (99-80%) HP:0002240
4 seizures63 53 hallmark (90%) Very frequent (99-80%) HP:0001250
5 muscle weakness63 53 hallmark (90%) Very frequent (99-80%) HP:0001324
6 elevated hepatic transaminases63 53 hallmark (90%) Very frequent (99-80%) HP:0002910
7 myopathy63 53 hallmark (90%) Very frequent (99-80%) HP:0003198
8 myalgia63 53 hallmark (90%) Very frequent (99-80%) HP:0003326
9 nausea and vomiting63 53 typical (50%) Frequent (79-30%) HP:0002017
10 arrhythmia63 53 typical (50%) Frequent (79-30%) HP:0011675
11 multicystic kidney dysplasia63 53 typical (50%) Frequent (79-30%) HP:0000003
12 renal insufficiency63 53 typical (50%) Frequent (79-30%) HP:0000083
13 cerebral calcification63 53 typical (50%) Frequent (79-30%) HP:0002514
14 hepatic failure63 53 occasional (7.5%) Occasional (29-5%) HP:0001399
15 sudden cardiac death63 53 occasional (7.5%) Occasional (29-5%) HP:0001645
16 encephalitis63 53 occasional (7.5%) Occasional (29-5%) HP:0002383
17 reduced consciousness/confusion63 53 occasional (7.5%) Occasional (29-5%) HP:0004372
18 lethargy63 HP:0001254
19 macrovesicular hepatic steatosis63 HP:0001403
20 cardiomegaly63 HP:0001640
21 dilated cardiomyopathy63 HP:0001644
22 hypoketotic hypoglycemia63 53 Very frequent (99-80%) HP:0001985
23 hyperammonemia63 HP:0001987
24 vomiting63 HP:0002013
25 elevated serum creatine phosphokinase63 HP:0003236
26 respiratory arrest63 HP:0005943
27 abnormality of the kidney53 Very frequent (99-80%)
28 coma53 Occasional (29-5%)
29 cardiomyopathy53 Very frequent (99-80%)
30 abnormality of long-chain fatty-acid metabolism53 Very frequent (99-80%)
31 abnormality of acetylcarnitine metabolism53 Very frequent (99-80%)
32 abnormality of nervous system morphology53 Frequent (79-30%)
33 death in infancy53 Occasional (29-5%)

UMLS symptoms related to Cpt Deficiency, Hepatic, Type Ii:


muscle cramp, muscular stiffness, myalgia, hepatomegaly, lethargy, seizures, vomiting, respiratory distress

Drugs & Therapeutics for Cpt Deficiency, Hepatic, Type Ii

About this section

Drugs for Cpt Deficiency, Hepatic, Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 39)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DopamineapprovedPhase 4, Phase 3375951-61-6, 62-31-7681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
KBio1_000780
 
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
2Neurotransmitter AgentsPhase 4, Phase 317734
3Central Nervous System StimulantsPhase 4, Phase 32132
4Dopamine AgentsPhase 4, Phase 33759
5Neurotransmitter Uptake InhibitorsPhase 4, Phase 33464
6Dopamine Uptake InhibitorsPhase 4, Phase 31305
7Lisdexamfetamine DimesylatePhase 497
8
Lamotrigineapproved, investigationalPhase 318384057-84-13878
Synonyms:
3,5-Diamino-6-(2,3-dichlorophenyl)-1,2,4-triazine
3,5-Diamino-6-(2,3-dichlorophenyl)-as-triazine
3,5-diamino-6-(2,3-dichlorophenyl)- as -triazine
6-(2,3-Dichlorophenyl)-1,2,4-triazine-3,5-diyldiamine
6-(2,3-dichlorophenyl)-1,2,4-triazine-3,5-diamine
84057-84-1
AC-10298
AC1L1GWT
BIDD:GT0794
BW 430C
BW-430C
Bio-0056
C047781
CHEBI:138727
CHEBI:6367
CHEMBL741
CID3878
CPD000058464
Crisomet
D00354
DB00555
Desitin Brand of Lamotrigine
EINECS 281-901-8
EU-0100688
EUR-1048
Faes Brand of Lamotrigine
GI 267119X
GW 273293
Glaxo Wellcome Brand of Lamotrigine
GlaxoSmithKline Brand of Lamotrigine
HMS2051C10
HMS2089M08
HMS2093P21
HSDB 7526
Juste Brand of Lamotrigine
L 3791
L3791_SIGMA
LS-155249
 
Labileno
Lamictal
Lamictal (TN)
Lamictal CD
Lamictal Cd
Lamictal ODT
Lamictal XR
Lamictin
Lamiktal
Lamitor
Lamotrigina
Lamotrigina [Spanish]
Lamotrigine
Lamotrigine (JAN/USAN/INN)
Lamotrigine [USAN:INN:BAN]
Lamotriginum
Lamotriginum [Latin]
Lopac-L-3791
Lopac0_000688
MLS000069685
MLS000759486
MLS001077325
MolPort-003-666-744
NCGC00015605-01
NCGC00015605-02
NCGC00015605-06
NCGC00015605-08
NCGC00022936-02
NCGC00022936-04
NCGC00022936-05
NSC746307
SAM001246697
SMP2_000303
SMR000058464
STK628377
Tocris-1611
UNII-U3H27498KS
ZINC00013156
lamotrigine
9
Valproic Acidapproved, investigationalPhase 332299-66-13121
Synonyms:
(N-C3H7)2CHCOOH
(S)-2-propyl-4-pentanoate
(S)-2-propyl-4-pentanoic acid
2 PP (base)
2-N-Propyl-N-valeric acid
2-Propyl-Pentanoate
2-Propyl-Pentanoic acid
2-Propylpentanoate
2-Propylpentanoic Acid
2-Propylpentanoic acid
2-Propylvaleric Acid
2-Propylvaleric acid
2-n-Propyl-n-valeric acid
2-n-propyl-n-valeric acid
2-propyl-pentanoic acid
2-propylvaleric acid
4-Heptanecarboxylic acid
4-heptanecarboxylic acid
76584-70-8 (hydrochloride salt (2:1))
99-66-1
AC1L1F7T
AC1Q2ULA
AI3-10500
APO-divalproex
Abbott 44090
Acide valproique
Acide valproique [INN-French]
Acide valproique [inn-french]
Acido valproico
Acido valproico [INN-Spanish]
Acido valproico [inn-spanish]
Acidum valproicum
Acidum valproicum [INN-Latin]
Acidum valproicum [inn-latin]
Alti-Valproic
Alti-valproic
Apo-valproic
Apo-valproic syrup
Avugane
BIDD:GT0858
BRN 1750447
Baceca
C07185
CHEBI:39867
CHEMBL109
CID3121
CPD000499581
Convulex
Convulsofin
D00399
DB00313
DOM-divalproex
DOM-valproic
DOM-valproic acid E.C.
DPA
Delepsine
Depacon
Depakene
Depakene (TN)
Depakin
Depakin chrono
Depakine
Depakine chrono
Depakote
Depakote (TM)
Deproic
Di-N-propylacetic acid
Di-N-propylessigsaure
Di-N-propylessigsaure [german]
Di-n-propylacetic acid
Di-n-propylessigsaeure
Di-n-propylessigsaure
Di-n-propylessigsaure [German]
Di-n-propylessigsäure
Dipropyl Acetate
Dipropylacetate
Dipropylacetic acid
DivK1c_000273
Divalproex
Dom-Valproic
Dom-valproate
Dom-valproic acid
Dom-valproic acid syrup
EINECS 202-777-3
Epiject I.V.
Epilex
Epilim
Epival
Epival er
Ergenyl
G2M-777
Gen-divalproex
HMS2089J06
HSDB 3582
I04-0211
InChI=1/C8H16O2/c1-3-5-7(6-4-2)8(9)10/h7H,3-6H2,1-2H3,(H,9,10)
KBio1_000273
KBio2_001001
KBio2_002277
KBio2_003569
KBio2_004845
 
KBio2_006137
KBio2_007413
KBio3_002626
KBio3_002757
KBioGR_000871
KBioGR_002277
KBioSS_001001
KBioSS_002278
Kyselina 2-propylvalerova
Kyselina 2-propylvalerova [Czech]
LS-161170
LS-2068
MLS001076682
MLS001335927
MLS001335928
MLS002415770
Med Valproic
Med valproic
MolPort-001-791-895
Mylproin
Myproate
Myproic Acid
Myproic acid
N-DPA
N-Dipropylacetic acid
NCGC00091149-01
NCGC00091149-02
NCGC00091149-03
NCGC00091149-04
NINDS_000273
NSC 93819
NSC93819
Novo-Valproic
Novo-Valproic - ECC
Novo-divalproex
Novo-valproic
Novo-valproic soft gel cap
Nu-Valproic
Nu-valproic
P0823
P6273_SIGMA
PEAC
PHL-valproate
PHL-valproic acid
PHL-valproic acid E.C.
PMS-Divalproex
PMS-Valproic Acid
PMS-valproate
PMS-valproic acid
PMS-valproic acid E.C.
Penta-Valproic
Penta-valproic
Propylvaleric acid
Ratio-Valproic - ECC
S(-)-4-En-valproate
S(-)-4-En-valproic acid
S-2-N-Propyl-4-pentenoate
S-2-N-Propyl-4-pentenoic acid
SAM002564230
SBB065764
SMR000499581
SPBio_000912
Sandoz valproic
Savicol
Semisodium Valproate
Sodium hydrogen divalproate
Spectrum2_000946
Spectrum3_001733
Spectrum4_000376
Spectrum_000521
Sprinkle
Stavzor
UNII-614OI1Z5WI
VALPROIC ACID
VPA
Valcote
Valparin
Valproate
Valproate semisodique [French]
Valproate semisodium
Valproato semisodico [Spanish]
Valproatum seminatricum [Latin]
Valproic Acid, Sodium Salt (2:1)
Valproic acid
Valproic acid (USP)
Valproic acid USP
Valproic acid USP24
Valproic acid [USAN:INN:BAN]
Valproic acid [usan:ban:inn]
Valproinsaeure
Valproinsäure
Vupral
WLN: QVY3 & 3
acide valproïque
acidum valproicum
di-n-propylacetic acid
n-DPA
n-Dipropylacetic acid
nchembio.79-comp4
nchembio815-comp21
valproate
valproic acid
ácido valproico
10
BezafibrateapprovedPhase 3, Phase 21441859-67-039042
Synonyms:
2-(4-{2-[(4-chlorobenzoyl)amino]ethyl}phenoxy)-2-methylpropanoic acid
2-(P-(2-(P-Chlorobenzamido)ethyl)phenoxy)-2-methylpropionic acid
2-(p-(2-(p-Chlorobenzamido)ethyl)phenoxy)-2-methylpropionic acid
2-[4-(2-[4-Chlorobenzamido]ethyl)- phenoxy]-2-methylpropanoic acid
2-[4-[2-(4-Chlorobenzamido)ethyl]phenoxy]-2-methylpropanoic acid
2-[4-[2-(4-Chlorobenzamido)ethyl]phenoxy]isobutyric Acid
2-[4-[2-[(4-chlorobenzoyl)amino]ethyl]phenoxy]-2-methylpropanoic acid
41859-67-0
AB00052265
AB1004588
AC-6817
AC1L20XS
AC1Q5E4V
AKOS005107743
Azufibrat
Azupharma Brand of Bezafibrate
B3346
B7273_SIGMA
BF-759
BM 15.075
BM 15075
BM-15.075
BM-15075
BM15.075
BPBio1_000589
BRD-K46018455-001-06-0
BRN 4267656
BSPBio_000535
BSPBio_001314
BSPBio_003119
Bayer Brand of Bezafibrate
Befibrat
Befizal
Berlin Chemie Brand of Bezafibrate
Berlin-Chemie Brand of Bezafibrate
Betapharm Brand of Bezafibrate
Beza Lande
Beza Puren
Beza-Lande
Beza-Puren
BezaLande
BezaPuren
Bezabeta
Bezacur
Bezafibrat
Bezafibrat PB
Bezafibrate (JP15/USAN/INN)
Bezafibrate Azupharma Brand
Bezafibrate Bayer Brand
Bezafibrate Berlin-Chemie Brand
Bezafibrate Betapharm Brand
Bezafibrate Cryopharma Brand
Bezafibrate Elfar Brand
Bezafibrate Hennig Brand
Bezafibrate Hexal Brand
Bezafibrate Isis Brand
Bezafibrate Lakeside Brand
Bezafibrate Merckle Brand
Bezafibrate Roche Brand
Bezafibrate Synthelabo Brand
Bezafibrate TAD Brand
Bezafibrate Teva Brand
Bezafibrate [USAN:BAN:INN:JAN]
Bezafibrato
Bezafibrato [INN-Spanish]
Bezafibrato [Spanish]
Bezafibrato [inn-spanish]
Bezafibratum
Bezafibratum [INN-Latin]
Bezafibratum [inn-latin]
Bezafisal
Bezalip
Bezalip Retard
Bezamerck
Bezatol
Bezatol SR
Bezatol SR (TN)
Bezatol sr (tn)
Bio2_000034
Bio2_000514
Boehringer Mannheim Brand of Bezafibrate
C19H20ClNO4
CAS-41859-67-0
CCRIS 9085
CHEBI:47612
 
CHEMBL264374
CID39042
Cedur
Cryopharma Brand of Bezafibrate
D001629
D01366
DB01393
DB08380
Difaterol
DivK1c_000092
EINECS 255-567-9
Elfar Brand of Bezafibrate
Eulitop
HMS1361B16
HMS1569K17
HMS1791B16
HMS1921H16
HMS1989B16
HMS2089F04
HMS2092B12
HMS500E14
Hennig Brand of Bezafibrate
Hexal Brand of Bezafibrate
I06-1311
IDI1_000092
IDI1_033784
Isis Brand of Bezafibrate
KBio1_000092
KBio2_000034
KBio2_001923
KBio2_002602
KBio2_004491
KBio2_005170
KBio2_007059
KBio3_000067
KBio3_000068
KBio3_002619
KBioGR_000034
KBioGR_000669
KBioSS_000034
KBioSS_001923
LO 44
LS-124535
Lakeside Brand of Bezafibrate
Lipox
MLS000028533
MLS001148205
Merckle Brand of Bezafibrate
MolPort-001-738-424
NCGC00016850-01
NCGC00016850-02
NCGC00016850-11
NCGC00023317-03
NCGC00023317-04
NCGC00023317-05
NCGC00023317-06
NCGC00023317-07
NCGC00023317-08
NINDS_000092
PB, Bezafibrat
Prestwick0_000378
Prestwick1_000378
Prestwick2_000378
Prestwick3_000378
Prestwick_724
Reducterol
Regadrin B
Roche Brand of Bezafibrate
SMR000058298
SPBio_000824
SPBio_002456
SPECTRUM1502046
ST51014927
Sklerofibrat
Solibay
Spectrum2_000922
Spectrum3_001500
Spectrum4_000325
Spectrum5_001079
Spectrum5_001967
Spectrum_001443
Synthelabo Brand of Bezafibrate
TAD Brand of Bezafibrate
Teva Brand of Bezafibrate
a-[4-(4-chlorobenzoylaminoethyl)phenoxy]isobutyric acid
bezafibrate
durabezur
11
EthosuximideapprovedPhase 3977-67-83291
Synonyms:
(+-)-2-Ethyl-2-methylsuccinimide
(±)-2-ethyl-2-methylsuccinimide
.alpha.-Ethyl-.alpha.-methylsuccinimide
.gamma.-Methyl-.gamma.-ethylsuccinimide
2-Ethyl-2-methylsuccinimide
2-Methyl-2-ethylsuccinimide
2-ethyl-2-methylsuccinimide
3-Ethyl-3-methyl-2, 5-pyrrolidinedion
3-Ethyl-3-methyl-2,5-pyrrolidinedione
3-Ethyl-3-methylpyrrolidine-2,5-dione
3-Ethyl-3-methylpyrroline-2,5-dione
3-Ethyl-3-methylsuccinimide
3-Methyl-3-ethylpyrrolidine-2,5-dione
3-Methyl-3-ethylsuccinimide
3-ethyl-3-methyl-2,5-pyrrolidinedione
5-21-09-00595 (Beilstein Handbook Reference)
77-67-8
AB00052288
AC1L1FLN
AC1Q2SOO
Aethosuccimidum
Aethosuximide
Aethosuximide [German]
Asamid
Atysmal
BPBio1_000033
BRD-A99633051-001-04-7
BRN 0117054
BSPBio_000029
C.I. 366
C07505
CHEBI:131811
CHEBI:4887
CHEMBL696
CI 366
CI-366
CID3291
CN-10,395
CN-10395
Capitus
Cl 366
D005013
D00539
DB00593
Desitin Brand of Ethosuximide
DivK1c_000218
E 7138
E0746
E7138_SIGMA
EINECS 201-048-7
EU-0100532
Emeside
Epileo Petit MAL
Ethosuccimid
Ethosuccimide
Ethosuccinimide
Ethosuxide
Ethosuximid
Ethosuximide
Ethosuximide (JP15/USP/INN)
Ethosuximide [USAN:INN:BAN:JAN]
Ethosuximidum
Ethosuximidum [INN-Latin]
Ethylmethylsuccimide
Ethymal
Etomal
Etosuccimide
Etosuccimide [DCIT]
Etosuximid
Etosuximida
Etosuximida Faes
Etosuximida [INN-Spanish]
Etosuximide
Faes Brand of Ethosuximide
Faes, Etosuximida
Fortbenton Brand of Ethosuximide
H 940
H-490
HMS1568B11
HMS1921L14
HMS2092D20
HMS500K20
HSDB 1119
IDI1_000218
 
Jenapharm Brand of Ethosuximide
KBio1_000218
KBio2_001865
KBio2_004433
KBio2_007001
KBio3_002008
KBioGR_001342
KBioSS_001865
Katwijk Brand of Ethosuximide
LAB Brand of Ethosuximide
LS-147585
Lopac0_000532
Mesentol
MolPort-003-666-417
N-Ethyl methylsuccinimide
NCGC00015418-02
NCGC00015418-06
NCGC00093923-01
NCGC00093923-02
NCGC00093923-03
NCGC00093923-04
NCIOpen2_000014
NINDS_000218
NSC 64013
NSC64013
PM 671
PM-671
Parke Davis Brand of Ethosuximide
Pemal
Pemalin
Pentinimid
Peptinimid
Petinimid
Petnidan
Pfizer Brand of Ethosuximide
Piknole.psi.n
Piknolepsin
Prestwick0_000165
Prestwick1_000165
Prestwick2_000165
Prestwick3_000165
Prestwick_611
Pyknole.psi.num
Pyknolepsinum
Ronton
SPBio_001465
SPBio_001950
SPECTRUM1502196
ST51037248
Simatin
Simatin(E)
Spectrum2_001483
Spectrum3_000944
Spectrum4_001051
Spectrum5_001073
Spectrum_001385
Succimal
Succimitin
Suksilep
Suxilep
Suximal
Suxin
Suxinutin
Thetamid
Thilopemal
UNII-5SEH9X1D1D
United Drug Brand of Ethosuximide
WLN: T5VMVTJ D2 D1
Warner Lambert Brand of Ethosuximide
Warner-Lambert Brand of Ethosuximide
Wernigerode Brand of Ethosuximide
Zaraondan
Zarodan
Zarondan
Zarondan-Saft
Zarontin
Zarontin (TN)
Zartalin
alpha-Ethyl-alpha-methylsuccinimide
alpha-Methyl-alpha-ethylsuccinimide
e
ethosuximide
gamma-Ethyl-gamma-methyl-succinimide
gamma-Methyl-gamma-ethyl-succinimide
gamma-ethyl-gamma-methyl-succinimide
γ-ethyl-γ-methyl-succinimide
12
Methylphenidateapproved, investigationalPhase 3373113-45-14158
Synonyms:
.alpha.-Phenyl-2-piperidineacetic acid methyl ester
113-45-1
2-Piperidineacetic acid, .alpha.-phenyl-, methyl ester
2-Piperidineacetic acid, alpha-phenyl-, methyl ester
298-59-9 (hydrochloride)
4311/B Ciba
AC1L1HJM
C 4311
C07196
CHEBI:6887
CHEMBL796
CID4158
Calocain
Centedein
Centedrin
Centedrine
Centredin
Concerta
D-Methylphenidate HCl
D04999
DB00422
DB06701
DEA No. 1724
Daytrana
Daytrana (TN)
EINECS 204-028-6
Focalin
Focalin XR
HSDB 3126
L001307
LS-565
METHYLPHENIDATE (SEE ALSO: METHYLPHENIDATE HYDROCHLORIDE, CAS 298-59-9, NTPNO 10266-R)
MPH
Meridil
Metadate
Metadate CD
Metadate ER
MethyPatch
Methyl (2-phenyl-2-(2-piperidyl)acetate)
Methyl alpha-phenyl-alpha-(2-piperidyl)acetate
Methyl alpha-phenyl-alpha-2-piperidinylacetate
Methyl phenidate
 
Methyl phenidyl acetate
Methyl phenidylacetate
Methylfenidan
Methylin
Methylin ER
Methylofenidan
Methylphen
Methylphenidan
Methylphenidate
Methylphenidate (USAN/INN)
Methylphenidate HCl
Methylphenidate [INN:BAN]
Methylphenidate hydrochloride
Methylphenidatum
Methylphenidatum [INN-Latin]
Methylphenidylacetate hydrochloride
Methypatch
Metilfenidat hydrochloride
Metilfenidato
Metilfenidato [INN-Spanish]
Metilfenidato [Italian]
MolPort-001-779-620
NCI-C56280
PMS-Methylphenidate
Phenidylate
Plimasine
Riphenidate
Ritalin
Ritalin LA
Ritalin SR
Ritalin hydrochloride
Ritalin-SR
Ritaline
Ritcher Works
Ritcher works
Tsentedrin
UNII-207ZZ9QZ49
alpha-Phenyl-2-piperidineacetic acid methyl ester
alpha-Phenyl-alpha-(2-piperidyl)acetic acid methyl ester
d-methylphenidate HCl
methyl 2-phenyl-2-piperidin-2-ylacetate
methyl phenyl(piperidin-2-yl)acetate
methylphenidate
nchembio.2007.55-comp28
13Excitatory Amino AcidsPhase 31297
14GABA AgentsPhase 31622
15Tranquilizing AgentsPhase 34164
16Psychotropic DrugsPhase 36279
17Sodium Channel BlockersPhase 31515
18Excitatory Amino Acid AntagonistsPhase 31282
19Lipid Regulating AgentsPhase 3, Phase 22702
20Hypolipidemic AgentsPhase 3, Phase 22721
21AntimetabolitesPhase 3, Phase 211774
22AnticonvulsantsPhase 32620
23Antimanic AgentsPhase 3790
24Central Nervous System DepressantsPhase 312806
25Diuretics, Potassium SparingPhase 31827
26Calcium, DietaryPhase 35525
27calcium channel blockersPhase 31940
28carnitineNutraceuticalPhase 3, Phase 2158
29
Glycerolexperimental, approvedPhase 222356-81-5753
Synonyms:
1,2,3-Trihydroxypropane
1,2,3-propanetriol
1,2,3-trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerin, anhydrous
Glycerin,anhydrous
Glycerine
Glycerinum
 
Glyceritol
Glycerol
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Monoctanoin component D
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
30
Lovastatinapproved, investigationalPhase 26275330-75-553232
Synonyms:
(1S,3R,7S,8S,8AR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-(2R,4R)-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl (S)-2-methyl-butyrate
1cqp
2beta,6alpha-Dimethyl-8alpha-(2-methyl-1-oxobutoxy)-mevinic acid lactone
6 Methylcompactin
6 alpha-Methylcompactin
6-Methylcompactin
6-alpha-Methylcompactin
6-alpha-methylcompactin
6alpha-Methylcompactin
6α-methylcompactin
71949-96-7
74133-25-8
75330-75-5
81739-26-6
AC-13961
AC1L1EI6
AC1Q2C7T
ACon0_000534
ACon1_000390
ARONIS24208
Altocor
Altoprev
Artein
BB_NC-1457
BIDD:GT0749
BIDD:PXR0113
BPBio1_000519
BRD-K09416995-001-06-8
BRN 3631989
BSPBio_000471
BSPBio_001265
BSPBio_003346
Belvas
C07074
C24H36O5
CCRIS 8092
CHEBI:40303
CHEMBL503
CID53232
CPD-5561
CPD000673570
Cholestra
Closterol
Colevix
D00359
D008148
DB00227
DivK1c_001032
HMS1569H13
HMS1792O07
HMS1923O13
HMS1990O07
HMS2089M06
HMS2093O03
HMS503O05
HSDB 6534
Hipolip
Hipovastin
I06-1876
IDI1_001032
KBio1_001032
KBio3_002848
L-154803
L0214
LOVASTATIN
LS-46359
Lestatin
Lipdip
Lipivas
Lipofren
 
Liposcler
Lovalip
Lovalord
Lovastatin & Primycin
Lovastatin (USP/INN)
Lovastatin [USAN:BAN:INN]
Lovastatin, (1 alpha(S*))-Isomer
Lovastatin, 1 alpha-Isomer (without R*/S* notation)
Lovastatina
Lovastatina [Spanish]
Lovastatine
Lovastatine [French]
Lovastatinum
Lovastatinum [Latin]
Lovasterol
Lovastin
Lozutin
M2147_SIGMA
MEGxm0_000398
MK 803
MK-803
MK803
ML-530B
ML-530b
MLS000069585
MLS001055358
MSD 803
Mevacor
Mevacor (TN)
Mevinacor
Mevinolin
Mevinolin from Aspergillus sp.
Mevlor
MolPort-001-739-990
Monacolin K
Monacolin-K
Monakolin K
NCGC00023509-03
NCGC00023509-04
NCGC00023509-05
NCGC00023509-06
NCGC00023509-07
NCGC00023509-08
NINDS_001032
Nergadan
Paschol
Prestwick0_000516
Prestwick1_000516
Prestwick2_000516
Prestwick3_000516
Prestwick_819
Rextat
Rodatin
Rovacor
SAM002589963
SMR000058779
SMR000673570
SPBio_002392
SPECTRUM1503977
STK801953
Sivlor
Spectrum3_001873
Spectrum5_001294
Taucor
Tecnolip
Teroltrat
UNII-9LHU78OQFD
ZINC03812841
lovastatin
nchembio742-comp5
nchembio790-comp14
nchembio869-comp12
31DihydromevinolinPhase 262
32Anticholesteremic AgentsPhase 21983
33L 647318Phase 262
34Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 21956
35
Hydroxyureaapproved215127-07-13657
Synonyms:
1-HYDROXYUREA
127-07-1
4-03-00-00170 (Beilstein Handbook Reference)
55291_FLUKA
AC1L1GF8
AC1Q4ZXK
AI3-51139
BB_SC-7256
BRN 1741548
BSPBio_002164
Bio1_000451
Bio1_000940
Bio1_001429
Biosupressin
C07044
CCRIS 958
CHEBI:44423
CHEMBL467
CID3657
Carbamohydroxamic Acid
Carbamohydroxamic acid
Carbamohydroximic Acid
Carbamohydroximic acid
Carbamohydroxyamic Acid
Carbamohydroxyamic acid
Carbamoyl Oxime
Carbamoyl oxime
Carbamyl Hydroxamate
Carbamyl hydroxamate
Carrbamoyl Oxime
D00341
D006918
DB01005
DRG-0253
DivK1c_000556
Droxia
Droxia (TM)
Droxia (TN)
E0723DBA-5AF3-49D1-B5F6-59420AB87AC9
EINECS 204-821-7
EU-0100596
FT-0083575
H 8627
H0310
H20210
H8627_SIGMA
HMS1920F09
HMS2091L17
HMS501L18
HSDB 6887
HU
HYDREA (TN)
HYDROXY-UREA
Hidrix
Hidroxicarbamida
Hidroxicarbamida [INN-Spanish]
Hydrea
Hydrea (TM)
Hydrea, Biosupressin, Cytodrox, Hydroxyurea
Hydreia
Hydroxicarbamidum
Hydroxycarbamid
Hydroxycarbamide
Hydroxycarbamide (JAN/INN)
Hydroxycarbamidum
Hydroxycarbamidum [INN-Latin]
Hydroxycarbamine
Hydroxyharnstoff
Hydroxyharnstoff [German]
Hydroxylurea
Hydroxyurea
Hydroxyurea (D4)
Hydroxyurea (USP)
Hydroxyurea [USAN:BAN]
Hydroxyurea(d4)
 
Hydura
Hydurea
I05-0250
IDI1_000556
Idrossicarbamide
Idrossicarbamide [DCIT]
Idrossicarbamide [Dcit]
KBio1_000556
KBio2_001389
KBio2_003957
KBio2_006525
KBio3_001384
KBioGR_000383
KBioSS_001389
LS-709
Litaler
Litalir
Lopac-H-8627
Lopac0_000596
MLS001332381
MLS001332382
MLS002153389
MolMap_000029
MolPort-000-003-971
Mylocel
N-(Aminocarbonyl) Hydroxyamine
N-Carbamoylhydroxylamine
N-HYDROXY UREA
N-Hydroxymocovina
N-Hydroxymocovina [Czech]
N-Hydroxyurea
NCGC00015520-01
NCGC00015520-02
NCGC00015520-07
NCGC00093974-01
NCGC00093974-02
NCGC00093974-03
NCGC00093974-04
NCGC00093974-05
NCI C04831
NCI-C04831
NCI60_002773
NCIMech_000139
NHY
NINDS_000556
NSC 32065
NSC32065
Onco-Carbide
Onco-carbide
Oncocarbide
Oxyurea
S-phase/G-1 interface inhibitor
S1896_Selleck
SK 22591
SMR000059149
SPBio_000247
SPECTRUM1500344
SQ 1089
SQ-1089
Siklos
Spectrum2_000064
Spectrum3_000462
Spectrum4_000012
Spectrum5_000836
Spectrum_000909
Sterile Urea
TL8000673
UNII-X6Q56QN5QC
Ureaphil
WLN: ZVMQ
carbamide oxide
hydroxyaminomethanamide
hydroxyurea
nchembio.573-comp3
nchembio.90-comp4
nchembio749-comp3
tetratogen: inhibits ribonucleoside diphosphate reductase
36Pyruvateapproved, Nutraceutical38
37Pharmaceutical Solutions7793
38Liver Extracts3868
39Nucleic Acid Synthesis Inhibitors4855

Interventional clinical trials:

(show all 15)
idNameStatusNCT IDPhase
1Treatment of Traumatic Brain Injury (TBI)-Related Attention Deficits in ChildrenNot yet recruitingNCT02712996Phase 4
2Bezafibrate Trial in CPT2 DeficiencyUnknown statusNCT00336167Phase 3
3Childhood Absence Epilepsy Rx PK-PD-Pharmacogenetics StudyUnknown statusNCT00088452Phase 3
4Evaluate Long-term Safety and Efficacy of ORADUR®-Methylphenidate in Children and Adolescents With ADHDRecruitingNCT02704390Phase 3
5Evaluate Safety and Efficacy of ORADUR®-Methylphenidate in Children and Adolescents With ADHDActive, not recruitingNCT02450890Phase 3
6Effect of Bezafibrate on Muscle Metabolism in Patients With Fatty Acid Oxidation DefectsCompletedNCT00983788Phase 2
7High Protein Diet in Patients With Long-chain Fatty Acid Oxidation DisordersCompletedNCT01494051Phase 1, Phase 2
8An Open-label Phase 2 Study of UX007 (Triheptanoin) in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)CompletedNCT01886378Phase 2
9Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation DisorderCompletedNCT01379625Phase 2
10A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1Active, not recruitingNCT00853580Phase 2
11Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Triheptanoin Studies.Enrolling by invitationNCT02214160Phase 2
12The Effects of Breakfast on Neuropsychological FunctioningCompletedNCT01943604
13Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269
14Pediatric Hydroxyurea Phase III Clinical Trial (BABY HUG) Follow-up Observational Study II ProtocolActive, not recruitingNCT01783990
15Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy MetabolismAvailableNCT01461304

Search NIH Clinical Center for Cpt Deficiency, Hepatic, Type Ii


Cochrane evidence based reviews: carnitine palmitoyl transferase 2 deficiency

Genetic Tests for Cpt Deficiency, Hepatic, Type Ii

About this section

Genetic tests related to Cpt Deficiency, Hepatic, Type Ii:

id Genetic test Affiliating Genes
1 Carnitine Palmitoyltransferase Ii Deficiency26 24 CPT2
2 Carnitine Palmitoyltransferase Ii Deficiency, Infantile26

Anatomical Context for Cpt Deficiency, Hepatic, Type Ii

About this section

MalaCards organs/tissues related to Cpt Deficiency, Hepatic, Type Ii:

35
Liver, Kidney, Brain

Animal Models for Cpt Deficiency, Hepatic, Type Ii or affiliated genes

About this section

MGI Mouse Phenotypes related to Cpt Deficiency, Hepatic, Type Ii:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.3ACADL, ACADVL, CPT1A, CPT1B, CPT2, HADHB
2MP:00107686.2ACADL, ACADVL, CPT1A, CPT1B, CPT2, CS

Publications for Cpt Deficiency, Hepatic, Type Ii

About this section

Variations for Cpt Deficiency, Hepatic, Type Ii

About this section

UniProtKB/Swiss-Prot genetic disease variations for Cpt Deficiency, Hepatic, Type Ii:

69
id Symbol AA change Variation ID SNP ID
1CPT2p.Tyr628SerVAR_001398rs28936673
2CPT2p.Arg631CysVAR_001399rs74315293

Clinvar genetic disease variations for Cpt Deficiency, Hepatic, Type Ii:

5 (show all 46)
id Gene Variation Type Significance SNP ID Assembly Location
1CPT2NM_000098.2(CPT2): c.534_558del25insT (p.Leu178_Ile186delinsPhe)indelPathogenicrs515726173GRCh37Chr 1, 53675880: 53675904
2CPT2NM_000098.2(CPT2): c.641T> C (p.Met214Thr)SNVPathogenicrs515726174GRCh37Chr 1, 53675987: 53675987
3CPT2NM_000098.2(CPT2): c.983A> G (p.Asp328Gly)SNVPathogenicrs515726175GRCh37Chr 1, 53676329: 53676329
4CPT2NM_000098.2(CPT2): c.1145G> A (p.Arg382Lys)SNVPathogenicrs515726176GRCh37Chr 1, 53676491: 53676491
5CPT2NM_000098.2(CPT2): c.452G> A (p.Arg151Gln)SNVPathogenicrs515726177GRCh37Chr 1, 53675798: 53675798
6CPT2NM_000098.2(CPT2): c.1646G> A (p.Gly549Asp)SNVPathogenicrs186044004GRCh37Chr 1, 53678936: 53678936
7CPT2NM_000098.2(CPT2): c.1737delC (p.Tyr579Terfs)deletionPathogenicrs515726178GRCh37Chr 1, 53679027: 53679027
8CPT2NM_000098.2(CPT2): c.1923_1935delGAAGGCCTTAGAA (p.Lys642Thrfs)deletionPathogenicrs515726179GRCh37Chr 1, 53679213: 53679225
9CPT2NM_000098.2(CPT2): c.886C> T (p.Arg296Ter)SNVLikely pathogenic, Pathogenicrs727503887GRCh37Chr 1, 53676232: 53676232
10CPT2NM_000098.2(CPT2): c.1369A> T (p.Lys457Ter)SNVLikely pathogenicrs756931329GRCh38Chr 1, 53211043: 53211043
11CPT2NM_000098.2(CPT2): c.1348A> T (p.Arg450Ter)SNVLikely pathogenicrs755395180GRCh37Chr 1, 53676694: 53676694
12CPT2NM_000098.2(CPT2): c.38delG (p.Gly13Alafs)deletionLikely pathogenicrs786204647GRCh37Chr 1, 53662653: 53662653
13CPT2NM_000098.2(CPT2): c.370C> T (p.Arg124Ter)SNVLikely pathogenic, Pathogenicrs201065226GRCh37Chr 1, 53675716: 53675716
14CPT2NM_000098.2: c.110_111dupGCduplicationLikely pathogenicChr na, -1: -1
15CPT2NM_000098.2: c.1774_1775delCTdeletionLikely pathogenicChr na, -1: -1
16CPT2NM_000098.2: c.1645+2T> GSNVLikely pathogenicChr na, -1: -1
17CPT2NM_000098.2: c.1545_1548delCTTTdeletionLikely pathogenicChr na, -1: -1
18CPT2NM_000098.2: c.1345C> TSNVLikely pathogenicChr na, -1: -1
19CPT2NM_000098.2: c.75delCdeletionLikely pathogenicChr na, -1: -1
20CPT2NM_000098.2: c.95delGdeletionLikely pathogenicChr na, -1: -1
21CPT2NM_000098.2: c.606T> ASNVLikely pathogenicChr na, -1: -1
22CPT2NM_000098.2: c.1414C> TSNVLikely pathogenicChr na, -1: -1
23CPT2NM_000098.2: c.1359_1362delAGAAdeletionLikely pathogenicChr na, -1: -1
24CPT2NM_000098.2: c.54_72dup19duplicationLikely pathogenicChr na, -1: -1
25CPT2NM_000098.2: c.1046dupAduplicationLikely pathogenicChr na, -1: -1
26CPT2NM_000098.2: c.1614C> ASNVLikely pathogenicChr na, -1: -1
27CPT2NM_000098.2: c.1345delCinsTAindelLikely pathogenicChr na, -1: -1
28CPT2NM_000098.2: c.1053G> ASNVLikely pathogenicChr na, -1: -1
29CPT2NM_000098.2(CPT2): c.1342T> C (p.Phe448Leu)SNV, HaplotypePathogenicrs74315297GRCh37Chr 1, 53676688: 53676688
30CPT2NM_000098.2(CPT2): c.1891C> T (p.Arg631Cys)SNVPathogenicrs74315293GRCh37Chr 1, 53679181: 53679181
31CPT2NM_000098.2(CPT2): c.338C> T (p.Ser113Leu)SNVPathogenicrs74315294GRCh37Chr 1, 53668099: 53668099
32CPT2NM_000098.2(CPT2): c.149C> A (p.Pro50His)SNVPathogenicrs28936375GRCh37Chr 1, 53662764: 53662764
33CPT2NM_000098.2(CPT2): c.1657G> A (p.Asp553Asn)SNVPathogenicrs28936376GRCh37Chr 1, 53678947: 53678947
34CPT2NM_000098.2(CPT2): c.1883A> C (p.Tyr628Ser)SNVPathogenicrs28936673GRCh37Chr 1, 53679173: 53679173
35CPT2NM_000098.2(CPT2): c.520G> A (p.Glu174Lys)SNVPathogenicrs28936674GRCh37Chr 1, 53675866: 53675866
36CPT2NM_000098.2(CPT2): c.1148T> A (p.Phe383Tyr)SNVLikely pathogenic, Pathogenicrs74315295GRCh37Chr 1, 53676494: 53676494
37CPT2NM_000098.2(CPT2): c.1507C> T (p.Arg503Cys)SNVPathogenicrs74315296GRCh37Chr 1, 53676853: 53676853
38CPT2CPT2, 1-BP INS, 534T/25-BP DEL, NT534indelPathogenicChr na, -1: -1
39CPT2CPT2, IVS2AS, G-A, -1SNVPathogenicChr na, -1: -1
40CPT2CPT2, 11-BP DUPduplicationPathogenicChr na, -1: -1
41CPT2NM_000098.2(CPT2): c.680C> T (p.Pro227Leu)SNVPathogenicrs74315298GRCh37Chr 1, 53676026: 53676026
42CPT2CPT2, 3-BP DEL, 109AGC AND 5-BP INS, 109GCAGCindelPathogenicChr na, -1: -1
43CPT2NM_000098.2(CPT2): c.1360G> T (p.Glu454Ter)SNVPathogenicrs74315299GRCh37Chr 1, 53676706: 53676706
44CPT2NM_000098.2(CPT2): c.638A> G (p.Asp213Gly)SNVPathogenicrs74315300GRCh37Chr 1, 53675984: 53675984
45CPT2NM_000098.2(CPT2): c.359A> G (p.Tyr120Cys)SNVLikely pathogenic, Pathogenicrs121918528GRCh37Chr 1, 53675705: 53675705
46CPT2NM_000098.2(CPT2): c.1239_1240delGA (p.Lys414Thrfs)deletionPathogenicrs397509431GRCh37Chr 1, 53676585: 53676586

Expression for genes affiliated with Cpt Deficiency, Hepatic, Type Ii

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Search GEO for disease gene expression data for Cpt Deficiency, Hepatic, Type Ii.

Pathways for genes affiliated with Cpt Deficiency, Hepatic, Type Ii

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Pathways related to Cpt Deficiency, Hepatic, Type Ii according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
19.6CPT1A, CPT1B
2
Show member pathways
9.6CPT1A, CPT1B
39.6CPT1A, CPT1B
4
Show member pathways
9.3CPT1A, CPT1B, CPT2
59.3ACADVL, CPT1A, CPT1B
6
Show member pathways
9.1ACADL, ACADVL, HADHB
79.0CPT1A, CPT1B, CPT2, SLC25A20
88.7ACADL, CPT1A, CPT1B, CPT2
9
Show member pathways
7.9ACADL, ACADVL, CPT1A, CPT1B, CPT2, HADHB
10
Show member pathways
7.5ACADL, ACADVL, CPT1A, CPT1B, CPT2, HADHB
11
Show member pathways
7.5ACADL, ACADVL, CPT1A, CPT1B, CPT2, HADHB
12
Show member pathways
6.3ACADL, ACADVL, CPT1A, CPT1B, CPT2, CS

GO Terms for genes affiliated with Cpt Deficiency, Hepatic, Type Ii

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Cellular components related to Cpt Deficiency, Hepatic, Type Ii according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial nucleoidGO:004264510.1ACADVL, HADHB
2mitochondrial outer membraneGO:00057419.5CPT1A, CPT1B, HADHB
3mitochondrial matrixGO:00057598.5ACADL, ACADVL, CS, ETFDH
4mitochondrial inner membraneGO:00057438.3ACADVL, CPT1A, CPT2, ETFDH, HADHB, SLC25A20
5mitochondrionGO:00057396.3ACADL, ACADVL, CPT1A, CPT1B, CPT2, CS

Biological processes related to Cpt Deficiency, Hepatic, Type Ii according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of fatty acid biosynthetic processGO:00457179.9ACADL, ACADVL
2lipid homeostasisGO:00550889.9ACADL, ACADVL
3regulation of cholesterol metabolic processGO:00901819.7ACADL, ACADVL
4negative regulation of fatty acid oxidationGO:00463229.7ACADL, ACADVL
5fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:00335399.6ACADL, ACADVL, ETFDH
6epithelial cell differentiationGO:00308559.5ACADVL, CPT1A
7temperature homeostasisGO:00016599.5ACADL, ACADVL
8carnitine shuttleGO:00068539.2CPT1A, CPT1B, CPT2, SLC25A20
9fatty acid beta-oxidationGO:00066358.1ACADL, ACADVL, CPT1A, CPT1B, CPT2, HADHB

Molecular functions related to Cpt Deficiency, Hepatic, Type Ii according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1long-chain-acyl-CoA dehydrogenase activityGO:000446610.1ACADL, ACADVL
2oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptorGO:005289010.0ACADL, ACADVL
3acyl-CoA dehydrogenase activityGO:000399510.0ACADL, ACADVL
4fatty-acyl-CoA bindingGO:000006210.0ACADL, ACADVL
5carnitine O-palmitoyltransferase activityGO:00040959.6CPT1A, CPT1B, CPT2
6flavin adenine dinucleotide bindingGO:00506609.1ACADL, ACADVL, ETFDH
7electron carrier activityGO:00090559.0ACADL, ACADVL, ETFDH

Sources for Cpt Deficiency, Hepatic, Type Ii

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet