MCID: CRN183
MIFTS: 51

Carnitine Palmitoyltransferase Ii Deficiency malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories

Aliases & Classifications for Carnitine Palmitoyltransferase Ii Deficiency

About this section
Sources:
10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 29ICD9CM, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Carnitine Palmitoyltransferase Ii Deficiency:

Name: Carnitine Palmitoyltransferase Ii Deficiency 10 21 23 47 12 51
Carnitine Palmitoyltransferase Ii Deficiency 45 22 24
Cpt Ii Deficiency 21 22 23
Lethal Neonatal Carnitine Palmitoyltransferase Ii Deficiency 10 24
Late-Onset Carnitine Palmitoyltransferase Ii Deficiency 10 24
Infantile Carnitine Palmitoyltransferase Ii Deficiency 10 24
Carnitine Palmitoyltransferase Deficiency Type 2 45 51
Carnitine Palmitoyl Transferase 2 Deficiency 65 36
Carnitine Palmitoyltransferase 2 Deficiency 45 23
 
Cpt2 45 51
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 65
Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset 65
Carnitine Palmitoyltransferase Ii Deficiency, Infantile 65
Carnitine Palmitoyltransferase Ii 11
Cpt2 Deficiency 23
Cpt-Ii 10
Cptii 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
carnitine palmitoyltransferase ii deficiency:
Inheritance: Autosomal recessive; Age of onset: All ages


External Ids:

Disease Ontology10 DOID:0060235
ICD9CM29 277.85
MeSH36 C535589
Orphanet51 157
ICD10 via Orphanet28 E71.3
MESH via Orphanet37 C535589
UMLS via Orphanet66 C0342790

Summaries for Carnitine Palmitoyltransferase Ii Deficiency

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NIH Rare Diseases:45 Carnitine palmitoyltransferase 2 (cpt2) 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 cpt2 deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form. the neonatal and infantile forms are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia (extremely low levels of ketones (substances produced when fat cells break down in the blood) and low blood sugar), cardiomyopathy, seizures, and early death. the myopathic form is characterized by exercise-induced muscle pain and weakness and occasional myoglobinuria (rust-colored urine indicating breakdown of muscle tissue). mutations in the cpt2 gene cause cpt2 deficiency. it is inherited in an autosomal recessive pattern. treatment is based on avoidance of prolonged fasting and a low-fat and high-carbohydrate diet.   last updated: 5/29/2012

MalaCards based summary: Carnitine Palmitoyltransferase Ii Deficiency, also known as carnitine palmitoyltransferase ii deficiency, is related to carnitine deficiency, systemic primary and carnitine palmitoyl transferase ii deficiency, severe infantile form, and has symptoms including seizures, muscle weakness and hypertrophic cardiomyopathy. An important gene associated with Carnitine Palmitoyltransferase Ii Deficiency is CPT2 (Carnitine Palmitoyltransferase 2), and among its related pathways are Development_Leptin signaling via PI3K-dependent pathway and Adipocytokine signaling pathway. Affiliated tissues include liver, kidney and skeletal muscle.

Disease Ontology:10 A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.

Genetics Home Reference:23 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.

Wikipedia:68 Carnitine palmitoyltransferase II deficiency (CPT-II) is an autosomal recessively inherited genetic... more...

GeneReviews summary for cpt2

Related Diseases for Carnitine Palmitoyltransferase Ii Deficiency

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Diseases related to Carnitine Palmitoyltransferase Ii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1carnitine deficiency, systemic primary29.7ACADVL, CPT2, ETFDH, SLC25A20
2carnitine palmitoyl transferase ii deficiency, severe infantile form10.7
3myopathy due to cpt ii deficiency10.6
4carnitine palmitoyl transferase ii deficiency, neonatal form10.5
5carnitine palmitoyl transferase ii deficiency, myopathic form10.5
6influenza10.4
7encephalopathy, acute, infection-induced, 410.4
8cpt deficiency, hepatic, type ii10.4
9dandy-walker syndrome10.4
10cpt ii deficiency, lethal neonatal10.4
11malignant hyperthermia10.4
12hypoglycemia10.4
13pancreatitis10.4
14hepatitis10.3
15neuroleptic malignant syndrome10.3
16status epilepticus10.3
17myopathy10.3
18visceral steatosis10.3
19encephalitis10.1
20encephalopathy10.1
21visual pathway and hypothalamic glioma, childhood10.1CPT1A, CPT1B
22cpt deficiency, hepatic, type ia10.1CPT1A, CPT1B
23myocardial infarction10.0
24herpes simplex encephalitis 110.0
25acute myocardial infarction10.0
26muscle disorders10.0
27lipid metabolism disorder10.0
28mitochondrial metabolism disease10.0
29muscle tissue disease10.0
30nutritional deficiency disease10.0
31mitochondrial disorders10.0
32mitochondrial genetic disorders10.0
33fatty acid oxidation disorders10.0
34myokymia with neonatal epilepsy10.0ACADVL, CPT2
35carnitine-acylcarnitine translocase deficiency10.0CPT1A, CPT2, SLC25A20
36cardiomyopathy with or without skeletal myopathy9.9ACADVL, CPT2, SLC25A20
37microphthalmia/anophthalmia/coloboma spectrum9.7ACADL, ACADVL
38long qt syndrome 69.7ACADL, ACADVL, SLC25A20
39fbxl4-related mitochondrial dna depletion syndrome, encephalomyopathic form9.5ACADL, ACADVL, CPT1A, CPT2, SLC25A20
40aryepiglottic fold cancer9.5ACADL, ACADVL, CPT1A, CPT2, SLC25A20
41bruck syndrome8.7ACADL, ACADVL, CPT1A, CPT1B, CPT2, CS

Graphical network of the top 20 diseases related to Carnitine Palmitoyltransferase Ii Deficiency:



Diseases related to carnitine palmitoyltransferase ii deficiency

Symptoms for Carnitine Palmitoyltransferase Ii Deficiency

About this section

Symptoms:

 51 (show all 20)
  • hepatomegaly/liver enlargement (excluding storage disease)
  • abnormal hepatic enzymes/transaminases
  • cardiomyopathy/hypertrophic/dilated
  • renal/kidney anomalies
  • seizures/epilepsy/absences/spasms/status epilepticus
  • myopathy
  • muscle weakness/flaccidity
  • myalgia/muscular pain
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • autosomal recessive inheritance
  • cardiac rhythm disorder/arrhythmia
  • multicystic kidney/renal dysplasia
  • renal failure
  • structural anomalies of the nervous system
  • intracranial/cerebral calcifications
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • hypoglycemia
  • encephalitis
  • obnubilation/coma/lethargia/desorientation
  • early death/lethality

HPO human phenotypes related to Carnitine Palmitoyltransferase Ii Deficiency:

(show all 14)
id Description Frequency HPO Source Accession
1 seizures hallmark (90%) HP:0001250
2 muscle weakness hallmark (90%) HP:0001324
3 hypertrophic cardiomyopathy hallmark (90%) HP:0001639
4 hepatomegaly hallmark (90%) HP:0002240
5 elevated hepatic transaminases hallmark (90%) HP:0002910
6 myopathy hallmark (90%) HP:0003198
7 myalgia hallmark (90%) HP:0003326
8 multicystic kidney dysplasia typical (50%) HP:0000003
9 renal insufficiency typical (50%) HP:0000083
10 cerebral calcification typical (50%) HP:0002514
11 sudden cardiac death occasional (7.5%) HP:0001645
12 hypoglycemia occasional (7.5%) HP:0001943
13 encephalitis occasional (7.5%) HP:0002383
14 reduced consciousness/confusion occasional (7.5%) HP:0004372

Drugs & Therapeutics for Carnitine Palmitoyltransferase Ii Deficiency

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Drugs for Carnitine Palmitoyltransferase Ii Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BezafibrateapprovedPhase 3, Phase 21141859-67-039042
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
2
Methylphenidateapproved, investigationalPhase 3344113-45-14158
Synonyms:
.alpha.-Phenyl-2-piperidineacetic acid methyl ester
113-45-1
2-Piperidineacetic acid, .alpha.-phenyl-, methyl ester
2-Piperidineacetic acid, alpha-phenyl-, methyl ester
298-59-9 (hydrochloride)
4311/B Ciba
AC1L1HJM
C 4311
C07196
CHEBI:6887
CHEMBL796
CID4158
Calocain
Centedein
Centedrin
Centedrine
Centredin
Concerta
D-Methylphenidate HCl
D04999
DB00422
DB06701
DEA No. 1724
Daytrana
Daytrana (TN)
EINECS 204-028-6
Focalin
Focalin XR
HSDB 3126
L001307
LS-565
METHYLPHENIDATE (SEE ALSO: METHYLPHENIDATE HYDROCHLORIDE, CAS 298-59-9, NTPNO 10266-R)
MPH
Meridil
Metadate
Metadate CD
Metadate ER
MethyPatch
Methyl (2-phenyl-2-(2-piperidyl)acetate)
Methyl alpha-phenyl-alpha-(2-piperidyl)acetate
Methyl alpha-phenyl-alpha-2-piperidinylacetate
Methyl phenidate
Methyl phenidyl acetate
 
Methyl phenidylacetate
Methylfenidan
Methylin
Methylin ER
Methylofenidan
Methylphen
Methylphenidan
Methylphenidate
Methylphenidate (USAN/INN)
Methylphenidate HCl
Methylphenidate Hydrochloride
Methylphenidate [INN:BAN]
Methylphenidate hydrochloride
Methylphenidatum
Methylphenidatum [INN-Latin]
Methylphenidylacetate hydrochloride
Methypatch
Metilfenidat hydrochloride
Metilfenidato
Metilfenidato [INN-Spanish]
Metilfenidato [Italian]
MolPort-001-779-620
NCI-C56280
PMS-Methylphenidate
Phenidylate
Plimasine
Quillivant XR
Riphenidate
Ritalin
Ritalin LA
Ritalin SR
Ritalin hydrochloride
Ritalin-SR
Ritaline
Ritcher Works
Ritcher works
Tsentedrin
UNII-207ZZ9QZ49
alpha-Phenyl-2-piperidineacetic acid methyl ester
alpha-Phenyl-alpha-(2-piperidyl)acetic acid methyl ester
d-methylphenidate HCl
methyl 2-phenyl-2-piperidin-2-ylacetate
methyl phenyl(piperidin-2-yl)acetate
methylphenidate
nchembio.2007.55-comp28
3
DopamineapprovedPhase 3281462-31-7, 51-61-6681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine Hcl
Dopamine Hydrochloride
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
 
KBio1_000780
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
4
Lamotrigineapproved, investigationalPhase 317484057-84-13878
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
5
Valproic Acidapproved, investigationalPhase 330299-66-13121
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-pentanoic 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-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)
Depakote ER
Deproic
Di-N-propylacetic acid
Di-N-propylessigsaeure
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
VALPROIC acid
VPA
Valcote
Valparin
Valproate
Valproate Semisodium
Valproate semisodique [French]
Valproate semisodium
Valproato semisodico [Spanish]
Valproatum seminatricum [Latin]
Valproic
Valproic Acid
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
di-n-propylacetic acid
n-DPA
n-Dipropylacetic acid
nchembio.79-comp4
nchembio815-comp21
valproate
valproic acid
6
EthosuximideapprovedPhase 3877-67-83291
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
7Calcium, DietaryPhase 33529
8carnitineNutraceuticalPhase 3, Phase 2138
9
Lovastatinapproved, investigationalPhase 25675330-75-553232
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
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
10
GlycerolexperimentalPhase 217656-81-5753
Synonyms:
1,2,3-Trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerine
Glyceritol
Glycerol
 
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
11
Hydroxyureaapproved181127-07-13657
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
12pyruvateNutraceutical27

Interventional clinical trials:

(show all 13)
idNameStatusNCT IDPhase
1Bezafibrate Trial in CPT2 DeficiencyRecruitingNCT00336167Phase 3
2Evaluate Safety and Efficacy of ORADUR®-Methylphenidate in Children and Adolescents With ADHDRecruitingNCT02450890Phase 3
3Childhood Absence Epilepsy Rx PK-PD-Pharmacogenetics StudyActive, not recruitingNCT00088452Phase 3
4Effect of Bezafibrate on Muscle Metabolism in Patients With Fatty Acid Oxidation DefectsCompletedNCT00983788Phase 2
5High Protein Diet in Patients With Long-chain Fatty Acid Oxidation DisordersCompletedNCT01494051Phase 1, Phase 2
6Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation DisorderCompletedNCT01379625Phase 2
7An Open-label Phase 2 Study of UX007 (Triheptanoin) in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)Active, not recruitingNCT01886378Phase 2
8A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1Active, not recruitingNCT00853580Phase 2
9Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Triheptanoin Studies.Enrolling by invitationNCT02214160Phase 2
10The Effects of Breakfast on Neuropsychological FunctioningCompletedNCT01943604
11Compassionate Use of Triheptanoin (C7) for Fatty Acid Oxidation Disorders and Glycogen Storage DiseaseAvailableNCT01461304
12Pediatric Hydroxyurea Phase III Clinical Trial (BABY HUG) Follow-up Observational Study II ProtocolEnrolling by invitationNCT01783990
13Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyNot yet recruitingNCT02635269

Search NIH Clinical Center for Carnitine Palmitoyltransferase Ii Deficiency


Cochrane evidence based reviews: Carnitine palmitoyl transferase 2 deficiency

Genetic Tests for Carnitine Palmitoyltransferase Ii Deficiency

About this section

Genetic tests related to Carnitine Palmitoyltransferase Ii Deficiency:

id Genetic test Affiliating Genes
1 Carnitine Palmitoyltransferase Ii Deficiency22 24 CPT2
2 Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset24
3 Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal24
4 Carnitine Palmitoyltransferase Ii Deficiency, Infantile24

Anatomical Context for Carnitine Palmitoyltransferase Ii Deficiency

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MalaCards organs/tissues related to Carnitine Palmitoyltransferase Ii Deficiency:

33
Liver, Kidney, Skeletal muscle, Brain, Whole blood

Animal Models for Carnitine Palmitoyltransferase Ii Deficiency or affiliated genes

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Publications for Carnitine Palmitoyltransferase Ii Deficiency

About this section

Articles related to Carnitine Palmitoyltransferase Ii Deficiency:

(show top 50)    (show all 66)
idTitleAuthorsYear
1
Neonatal Carnitine Palmitoyltransferase II Deficiency: A Lethal Entity. (26557586)
2015
2
Functional analysis of iPSC-derived myocytes from a patient with carnitine palmitoyltransferase II deficiency. (24780397)
2014
3
Normal protein content but abnormally inhibited enzyme activity in muscle carnitine palmitoyltransferase II deficiency. (24602495)
2014
4
Novel mutations in myopathic form of carnitine palmitoyltransferase II deficiency in a Chinese patient. (23911907)
2013
5
Novel mutations in the gene encoding very long-chain acyl-CoA dehydrogenase identified in patients with partial carnitine palmitoyltransferase II deficiency. (23169530)
2013
6
A case report of carnitine palmitoyltransferase II deficiency]. (19222961)
2009
7
Malignant hyperthermia-like syndrome and carnitine palmitoyltransferase II deficiency with heterozygous R503C mutation. (19762733)
2009
8
Neonatal carnitine palmitoyltransferase II deficiency: failure of treatment despite prolonged survival. (21709843)
2009
9
Severe rhabdomyolysis with hypoglycemia in an adult patient with carnitine palmitoyltransferase II deficiency. (18471680)
2008
10
Autopsy case of the neonatal form of carnitine palmitoyltransferase-II deficiency triggered by a novel disease-causing mutation del1737C. (18577113)
2008
11
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. (18550408)
2008
12
Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy. (18645163)
2008
13
Reversible asphyxial status in a newborn due to neonatal form of carnitine palmitoyltransferase II deficiency. (18987586)
2008
14
Anesthetic management of a parturient with carnitine palmitoyltransferase II deficiency. (16636033)
2006
15
Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects. (15642848)
2005
16
Quantitation of long-chain acylcarnitines by HPLC/fluorescence detection: application to plasma and tissue specimens from patients with carnitine palmitoyltransferase-II deficiency. (15653102)
2005
17
Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: clinical, biochemical, and genetic features of adult-onset cases. (15776096)
2005
18
Carnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF. (15754283)
2005
19
Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. (14615409)
2003
20
Carnitine palmitoyltransferase II deficiency: molecular and biochemical analysis of 32 patients. (12707442)
2003
21
Acute renal failure due to carnitine palmitoyltransferase II deficiency. (15025419)
2003
22
Effect of diet on exercise tolerance in carnitine palmitoyltransferase II deficiency. (12939440)
2003
23
Exercise tolerance in carnitine palmitoyltransferase II deficiency with IV and oral glucose. (12370460)
2002
24
Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry. (11999976)
2002
25
A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency. (11855939)
2002
26
Phenotypic variability among first-degree relatives with carnitine palmitoyltransferase II deficiency. (12362414)
2002
27
Antenatal presentation of carnitine palmitoyltransferase II deficiency. (11477613)
2001
28
"Adult" form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child. (11585077)
2001
29
Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry. (11389301)
2001
30
Muscular carnitine palmitoyltransferase II deficiency in infancy. (10738923)
2000
31
The diagnosis of carnitine palmitoyltransferase II deficiency is now possible in small skeletal muscle biopsies. (10896292)
2000
32
Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency. (10862092)
2000
33
Fatal carnitine palmitoyltransferase II deficiency in a newborn: new phenotypic features. (9924637)
1999
34
Genetics of carnitine palmitoyltransferase II deficiencies. (10709661)
1999
35
Adult carnitine palmitoyltransferase II deficiency: detection of characteristic carnitine esters in serum by tandem mass spectrometry. (10604150)
1999
36
Rhabdomyolysis in carnitine palmitoyltransferase II deficiency: developments in pathophysiology, diagnosis and therapy]. (9691338)
1998
37
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes. (9600456)
1998
38
Carnitine palmitoyltransferase II deficiency: diagnosis by molecular analysis of blood. (9309694)
1997
39
Two novel gene mutations (Glu174-->Lys, Phe383-->Tyr) causing the "hepatic" form of carnitine palmitoyltransferase II deficiency. (8682496)
1996
40
Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: expression of the molecular phenotype in cultured muscle cells. (8815169)
1996
41
Infantile form of carnitine palmitoyltransferase II deficiency in a girl with rapid fatal onset. (7474909)
1995
42
Profound carnitine palmitoyltransferase II deficiency. (8283368)
1994
43
Carnitine palmitoyltransferase II deficiency: a new cause of recurrent pancreatitis. (8201482)
1994
44
Central nervous system disorders and possible brain type carnitine palmitoyltransferase II deficiency. (8048703)
1994
45
Carnitine Palmitoyltransferase II Deficiency (20301431)
1993
46
Pathophysiological approach to carnitine palmitoyltransferase II deficiencies. (1438375)
1992
47
Biochemical and molecular studies of carnitine palmitoyltransferase II deficiency with hepatocardiomyopathic presentation. (1438396)
1992
48
Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies. (1999498)
1991
49
A case of carnitine palmitoyltransferase II deficiency in human skeletal muscle. (3197828)
1988
50
Carnitine palmitoyltransferase II deficiency with normal carnitine palmitoyltransferase I in skeletal muscle and leucocytes. (762593)
1979

Variations for Carnitine Palmitoyltransferase Ii Deficiency

About this section

Clinvar genetic disease variations for Carnitine Palmitoyltransferase Ii Deficiency:

5 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1CPT2NM_000098.2(CPT2): c.886C> T (p.Arg296Ter)single nucleotide variantLikely pathogenic, Pathogenicrs727503887GRCh37Chr 1, 53676232: 53676232
2CPT2NM_000098.2(CPT2): c.1342T> C (p.Phe448Leu)single nucleotide variantPathogenicrs74315297GRCh37Chr 1, 53676688: 53676688
3CPT2NM_000098.2(CPT2): c.1891C> T (p.Arg631Cys)single nucleotide variantPathogenicrs74315293GRCh37Chr 1, 53679181: 53679181
4CPT2NM_000098.2(CPT2): c.338C> T (p.Ser113Leu)single nucleotide variantPathogenicrs74315294GRCh37Chr 1, 53668099: 53668099
5CPT2NM_000098.2(CPT2): c.149C> A (p.Pro50His)single nucleotide variantPathogenicrs28936375GRCh37Chr 1, 53662764: 53662764
6CPT2NM_000098.2(CPT2): c.1657G> A (p.Asp553Asn)single nucleotide variantPathogenicrs28936376GRCh37Chr 1, 53678947: 53678947
7CPT2NM_000098.2(CPT2): c.1883A> C (p.Tyr628Ser)single nucleotide variantPathogenicrs28936673GRCh37Chr 1, 53679173: 53679173
8CPT2NM_000098.2(CPT2): c.520G> A (p.Glu174Lys)single nucleotide variantPathogenicrs28936674GRCh37Chr 1, 53675866: 53675866
9CPT2NM_000098.2(CPT2): c.1148T> A (p.Phe383Tyr)single nucleotide variantPathogenicrs74315295GRCh37Chr 1, 53676494: 53676494
10CPT2NM_000098.2(CPT2): c.1342T> C (p.Phe448Leu)single nucleotide variantPathogenicrs74315297GRCh37Chr 1, 53676688: 53676688
11CPT2CPT2, 1-BP INS, 534T/25-BP DEL, NT534indelPathogenic
12CPT2CPT2, IVS2AS, G-A, -1single nucleotide variantPathogenic
13CPT2CPT2, 11-BP DUPduplicationPathogenic
14CPT2NM_000098.2(CPT2): c.680C> T (p.Pro227Leu)single nucleotide variantPathogenicrs74315298GRCh37Chr 1, 53676026: 53676026
15CPT2CPT2, 3-BP DEL, 109AGC AND 5-BP INS, 109GCAGCindelPathogenic
16CPT2NM_000098.2(CPT2): c.1360G> T (p.Glu454Ter)single nucleotide variantPathogenicrs74315299GRCh37Chr 1, 53676706: 53676706
17CPT2NM_000098.2(CPT2): c.638A> G (p.Asp213Gly)single nucleotide variantPathogenicrs74315300GRCh37Chr 1, 53675984: 53675984
18CPT2NM_000098.2(CPT2): c.359A> G (p.Tyr120Cys)single nucleotide variantPathogenicrs121918528GRCh37Chr 1, 53675705: 53675705
19CPT2NM_000098.2(CPT2): c.1239_1240delGA (p.Lys414Thrfs)deletionPathogenicrs397509431GRCh37Chr 1, 53676585: 53676586

Expression for genes affiliated with Carnitine Palmitoyltransferase Ii Deficiency

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Search GEO for disease gene expression data for Carnitine Palmitoyltransferase Ii Deficiency.

Pathways for genes affiliated with Carnitine Palmitoyltransferase Ii Deficiency

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Pathways related to Carnitine Palmitoyltransferase Ii Deficiency according to GeneCards Suite gene sharing:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7CPT1A, CPT1B
29.7CPT1A, CPT1B
3
Show member pathways
9.7CPT1A, CPT1B
4
Show member pathways
9.4CPT1A, CPT1B, CPT2
59.3ACADVL, CPT1A, CPT1B
6
Show member pathways
9.0ACADL, HADHB
78.9CPT1A, CPT1B, CPT2, SLC25A20
8
Show member pathways
8.7ACADL, ACADVL, HADHB
98.6ACADL, CPT1A, CPT1B, CPT2
10
Show member pathways
7.6ACADL, ACADVL, CPT1A, CPT1B, CPT2, HADHB
11
Show member pathways
7.1ACADL, ACADVL, CPT1A, CPT1B, CPT2, HADHB
12
Show member pathways
7.1ACADL, ACADVL, CPT1A, CPT1B, CPT2, HADHB
13
Show member pathways
6.1ACADL, ACADVL, CPT1A, CPT1B, CPT2, CS

GO Terms for genes affiliated with Carnitine Palmitoyltransferase Ii Deficiency

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Cellular components related to Carnitine Palmitoyltransferase Ii Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial nucleoidGO:00426459.7ACADVL, HADHB
2mitochondrial membraneGO:00319669.6ACADL, ETFDH
3mitochondrial outer membraneGO:00057419.5CPT1A, CPT1B, HADHB
4mitochondrial matrixGO:00057598.2ACADL, ACADVL, CS, ETFDH
5mitochondrial inner membraneGO:00057437.9ACADVL, CPT1A, CPT2, ETFDH, HADHB, SLC25A20
6mitochondrionGO:00057396.3ACADL, ACADVL, CPT1A, CPT1B, CPT2, CS

Biological processes related to Carnitine Palmitoyltransferase Ii Deficiency according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of fatty acid oxidationGO:004632210.0ACADL, ACADVL
2regulation of cholesterol metabolic processGO:00901819.9ACADL, ACADVL
3lipid homeostasisGO:00550889.9ACADL, ACADVL
4negative regulation of fatty acid biosynthetic processGO:00457179.9ACADL, ACADVL
5temperature homeostasisGO:00016599.9ACADL, ACADVL
6epithelial cell differentiationGO:00308559.7ACADVL, CPT1A
7carnitine shuttleGO:00068539.4CPT1A, CPT1B, CPT2, SLC25A20
8fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:00335399.4ACADL, ACADVL, ETFDH
9fatty acid beta-oxidationGO:00066358.1ACADL, ACADVL, CPT1A, CPT1B, CPT2, HADHB
10metabolic processGO:00081527.9ACADL, ACADVL, CPT1A, CPT1B, HADHB
11cellular lipid metabolic processGO:00442557.5ACADL, ACADVL, CPT1A, CPT1B, CPT2, HADHB
12small molecule metabolic processGO:00442816.1ACADL, ACADVL, CPT1A, CPT1B, CPT2, CS

Molecular functions related to Carnitine Palmitoyltransferase Ii Deficiency according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1long-chain-acyl-CoA dehydrogenase activityGO:00044669.9ACADL, ACADVL
2acyl-CoA dehydrogenase activityGO:00039959.7ACADL, ACADVL
3oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptorGO:00528909.7ACADL, ACADVL
4carnitine O-palmitoyltransferase activityGO:00040959.7CPT1A, CPT1B, CPT2
5oxidoreductase activity, acting on the CH-CH group of donorsGO:00166279.6ACADL, ACADVL
6transferase activity, transferring acyl groupsGO:00167469.5CPT1A, CPT1B, CPT2
7fatty-acyl-CoA bindingGO:00000629.4ACADL, ACADVL
8flavin adenine dinucleotide bindingGO:00506608.8ACADL, ACADVL, ETFDH
9electron carrier activityGO:00090558.8ACADL, ACADVL, ETFDH

Sources for Carnitine Palmitoyltransferase Ii Deficiency

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