CPT2
MCID: CRN183
MIFTS: 54

Carnitine Palmitoyltransferase Ii Deficiency (CPT2) malady

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

Aliases & Classifications for Carnitine Palmitoyltransferase Ii Deficiency

Aliases & Descriptions for Carnitine Palmitoyltransferase Ii Deficiency:

Name: Carnitine Palmitoyltransferase Ii Deficiency 12 23 24 25 56 52 14
Cpt Ii Deficiency 23 24 25
Carnitine Palmitoyltransferase Deficiency Type 2 50 56
Carnitine Palmitoyltransferase Ii Deficiency 50 29
Carnitine Palmitoyl Transferase 2 Deficiency 42 69
Carnitine Palmitoyltransferase 2 Deficiency 50 25
Cpt2 50 56
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 69
Lethal Neonatal Carnitine Palmitoyltransferase Ii Deficiency 12
Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset 69
Carnitine Palmitoyltransferase Ii Deficiency, Infantile 69
Late-Onset Carnitine Palmitoyltransferase Ii Deficiency 12
Infantile Carnitine Palmitoyltransferase Ii Deficiency 12
Carnitine Palmitoyltransferase Ii 13
Cpt2 Deficiency 25
Cpt-Ii 12
Cptii 56

Characteristics:

Orphanet epidemiological data:

56
carnitine palmitoyltransferase ii deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (United States),1-9/100000 (Europe); Age of onset: All ages;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060235
MeSH 42 C535589
NCIt 47 C114766
SNOMED-CT 64 238002005
Orphanet 56 ORPHA157
ICD10 via Orphanet 34 E71.3
MESH via Orphanet 43 C535589
UMLS via Orphanet 70 C0342790
UMLS 69 C0342790

Summaries for Carnitine Palmitoyltransferase Ii Deficiency

NIH Rare Diseases : 50 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 cpt ii deficiency, is related to myopathy due to cpt ii deficiency and cpt ii deficiency, lethal neonatal, and has symptoms including myalgia, seizures and muscle weakness. An important gene associated with Carnitine Palmitoyltransferase Ii Deficiency is CPT2 (Carnitine Palmitoyltransferase 2), and among its related pathways/superpathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs Dopamine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and skeletal muscle, and related phenotype is mortality/aging.

Disease Ontology : 12 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.

Wikipedia : 71 Carnitine palmitoyltransferase II deficiency (CPT-II) is an autosomal recessively inherited genetic... more...

GeneReviews: NBK1253

Related Diseases for Carnitine Palmitoyltransferase Ii Deficiency

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



Diseases related to Carnitine Palmitoyltransferase Ii Deficiency

Symptoms & Phenotypes for Carnitine Palmitoyltransferase Ii Deficiency

Human phenotypes related to Carnitine Palmitoyltransferase Ii Deficiency:

56 32 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myalgia 56 32 Very frequent (99-80%) HP:0003326
2 seizures 56 32 Very frequent (99-80%) HP:0001250
3 muscle weakness 56 32 Very frequent (99-80%) HP:0001324
4 sudden cardiac death 56 32 Occasional (29-5%) HP:0001645
5 encephalitis 56 32 Occasional (29-5%) HP:0002383
6 cerebral calcification 56 32 Frequent (79-30%) HP:0002514
7 hepatomegaly 56 32 Very frequent (99-80%) HP:0002240
8 renal insufficiency 56 32 Frequent (79-30%) HP:0000083
9 myopathy 56 32 Very frequent (99-80%) HP:0003198
10 hypoglycemia 56 32 Occasional (29-5%) HP:0001943
11 elevated hepatic transaminases 56 32 Very frequent (99-80%) HP:0002910
12 cardiomyopathy 56 32 Very frequent (99-80%) HP:0001638
13 multicystic kidney dysplasia 56 32 Frequent (79-30%) HP:0000003
14 coma 56 32 Occasional (29-5%) HP:0001259
15 abnormality of long-chain fatty-acid metabolism 56 32 Very frequent (99-80%) HP:0010964
16 abnormality of acetylcarnitine metabolism 56 32 Very frequent (99-80%) HP:0012071
17 reduced consciousness/confusion 56 Occasional (29-5%)
18 arrhythmia 56 Frequent (79-30%)
19 abnormality of nervous system morphology 56 Frequent (79-30%)
20 abnormality of the kidney 56 Very frequent (99-80%)

UMLS symptoms related to Carnitine Palmitoyltransferase Ii Deficiency:


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

MGI Mouse Phenotypes related to Carnitine Palmitoyltransferase Ii Deficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.32 ETFDH HADHB SLC25A20 TOP3B ACADL ACADVL

Drugs & Therapeutics for Carnitine Palmitoyltransferase Ii Deficiency

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

(show all 40)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 3 51-61-6, 62-31-7 681
2 Neurotransmitter Agents Phase 4,Phase 3
3 Central Nervous System Stimulants Phase 4,Phase 3
4 Dopamine Agents Phase 4,Phase 3
5 Dopamine Uptake Inhibitors Phase 4,Phase 3
6 Lisdexamfetamine Dimesylate Phase 4,Phase 3
7 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3
8
Bezafibrate Approved Phase 3,Phase 2 41859-67-0 39042
9
Ethosuximide Approved Phase 3 77-67-8 3291
10
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
11
Valproic Acid Approved, Investigational Phase 3 99-66-1 3121
12
Methylphenidate Approved, Investigational Phase 3 113-45-1 4158
13 Antimetabolites Phase 3,Phase 2
14 Hypolipidemic Agents Phase 3,Phase 2
15 Lipid Regulating Agents Phase 3,Phase 2
16 Anticonvulsants Phase 3
17 Antimanic Agents Phase 3
18 calcium channel blockers Phase 3
19 Calcium, Dietary Phase 3
20 Central Nervous System Depressants Phase 3
21 Diuretics, Potassium Sparing Phase 3
22 Excitatory Amino Acid Antagonists Phase 3
23 Excitatory Amino Acids Phase 3
24 GABA Agents Phase 3
25 Psychotropic Drugs Phase 3
26 Sodium Channel Blockers Phase 3
27 Tranquilizing Agents Phase 3
28 carnitine Nutraceutical Phase 3,Phase 2
29
Glycerol Approved, Experimental Phase 2 56-81-5 753
30
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
31 Anticholesteremic Agents Phase 2
32 Dihydromevinolin Phase 2
33 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
34 L 647318 Phase 2
35
Sulfamethazine Approved, Vet_approved 57-68-1 5327
36
Hydroxyurea Approved 127-07-1 3657
37
Pyruvate Approved, Nutraceutical
38 Pharmaceutical Solutions
39 Liver Extracts
40 Nucleic Acid Synthesis Inhibitors

Interventional clinical trials:

(show all 17)
id Name Status NCT ID Phase
1 Treatment of Traumatic Brain Injury (TBI)-Related Attention Deficits in Children Recruiting NCT02712996 Phase 4
2 Bezafibrate Trial in CPT2 Deficiency Unknown status NCT00336167 Phase 3
3 Childhood Absence Epilepsy Rx PK-PD-Pharmacogenetics Study Completed NCT00088452 Phase 3
4 Evaluate Long-term Safety and Efficacy of ORADUR®-Methylphenidate in Children and Adolescents With ADHD Recruiting NCT02704390 Phase 3
5 Evaluate Safety and Efficacy of ORADUR®-Methylphenidate in Children and Adolescents With ADHD Active, not recruiting NCT02450890 Phase 3
6 Treatment of Traumatic Brain Injury (TBI)-Related Attention Deficits Terminated NCT01000064 Phase 3
7 Effect of Bezafibrate on Muscle Metabolism in Patients With Fatty Acid Oxidation Defects Completed NCT00983788 Phase 2
8 High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders Completed NCT01494051 Phase 1, Phase 2
9 An Open-label Phase 2 Study of UX007 (Triheptanoin) in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Completed NCT01886378 Phase 2
10 Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation Disorder Completed NCT01379625 Phase 2
11 A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1 Active, not recruiting NCT00853580 Phase 2
12 Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Triheptanoin Studies. Enrolling by invitation NCT02214160 Phase 2
13 The Effects of Breakfast on Neuropsychological Functioning Completed NCT01943604
14 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269
15 Brain-Computer Interface-based Programme for the Treatment of ASD/ADHD Recruiting NCT02618135
16 Pediatric Hydroxyurea Phase III Clinical Trial (BABY HUG) Follow-up Observational Study II Protocol Active, not recruiting NCT01783990
17 Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism Available NCT01461304

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

Genetic tests related to Carnitine Palmitoyltransferase Ii Deficiency:

id Genetic test Affiliating Genes
1 Carnitine Palmitoyltransferase Ii Deficiency 29 24 CPT2

Anatomical Context for Carnitine Palmitoyltransferase Ii Deficiency

MalaCards organs/tissues related to Carnitine Palmitoyltransferase Ii Deficiency:

39
Liver, Kidney, Skeletal Muscle, Whole Blood, Brain

Publications for Carnitine Palmitoyltransferase Ii Deficiency

Articles related to Carnitine Palmitoyltransferase Ii Deficiency:

(show top 50) (show all 69)
id Title Authors Year
1
Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features. ( 28054946 )
2017
2
Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency. ( 27067077 )
2016
3
First Japanese Case of Carnitine Palmitoyltransferase II Deficiency with the Homozygous Point Mutation S113L. ( 27629963 )
2016
4
Neonatal Carnitine Palmitoyltransferase II Deficiency: A Lethal Entity. ( 26557586 )
2015
5
Normal protein content but abnormally inhibited enzyme activity in muscle carnitine palmitoyltransferase II deficiency. ( 24602495 )
2014
6
Functional analysis of iPSC-derived myocytes from a patient with carnitine palmitoyltransferase II deficiency. ( 24780397 )
2014
7
Novel mutations in myopathic form of carnitine palmitoyltransferase II deficiency in a Chinese patient. ( 23911907 )
2013
8
Novel mutations in the gene encoding very long-chain acyl-CoA dehydrogenase identified in patients with partial carnitine palmitoyltransferase II deficiency. ( 23169530 )
2013
9
Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death. ( 21641254 )
2011
10
Severe infantile carnitine palmitoyltransferase II deficiency in 19-week fetal sibs. ( 19335026 )
2009
11
Neonatal carnitine palmitoyltransferase II deficiency: failure of treatment despite prolonged survival. ( 21709843 )
2009
12
Malignant hyperthermia-like syndrome and carnitine palmitoyltransferase II deficiency with heterozygous R503C mutation. ( 19762733 )
2009
13
[A case report of carnitine palmitoyltransferase II deficiency]. ( 19222961 )
2009
14
Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy. ( 18645163 )
2008
15
Autopsy case of the neonatal form of carnitine palmitoyltransferase-II deficiency triggered by a novel disease-causing mutation del1737C. ( 18577113 )
2008
16
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. ( 18550408 )
2008
17
Reversible asphyxial status in a newborn due to neonatal form of carnitine palmitoyltransferase II deficiency. ( 18987586 )
2008
18
Severe rhabdomyolysis with hypoglycemia in an adult patient with carnitine palmitoyltransferase II deficiency. ( 18471680 )
2008
19
Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency. ( 16996287 )
2006
20
Anesthetic management of a parturient with carnitine palmitoyltransferase II deficiency. ( 16636033 )
2006
21
Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects. ( 15642848 )
2005
22
Carnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF. ( 15754283 )
2005
23
Quantitation of long-chain acylcarnitines by HPLC/fluorescence detection: application to plasma and tissue specimens from patients with carnitine palmitoyltransferase-II deficiency. ( 15653102 )
2005
24
Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: clinical, biochemical, and genetic features of adult-onset cases. ( 15776096 )
2005
25
Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. ( 14615409 )
2003
26
Carnitine palmitoyltransferase II deficiency: molecular and biochemical analysis of 32 patients. ( 12707442 )
2003
27
Lethal neonatal carnitine palmitoyltransferase II deficiency: an unusual presentation of a rare disorder. ( 12638078 )
2003
28
A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency. ( 12809643 )
2003
29
Effect of diet on exercise tolerance in carnitine palmitoyltransferase II deficiency. ( 12939440 )
2003
30
Acute renal failure due to carnitine palmitoyltransferase II deficiency. ( 15025419 )
2003
31
Exercise tolerance in carnitine palmitoyltransferase II deficiency with IV and oral glucose. ( 12370460 )
2002
32
Phenotypic variability among first-degree relatives with carnitine palmitoyltransferase II deficiency. ( 12362414 )
2002
33
Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations. ( 12410208 )
2002
34
[Carnitine palmitoyltransferase II deficiency]. ( 12013980 )
2002
35
Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry. ( 11999976 )
2002
36
A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency. ( 11855939 )
2002
37
Antenatal presentation of carnitine palmitoyltransferase II deficiency. ( 11477613 )
2001
38
"Adult" form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child. ( 11585077 )
2001
39
Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry. ( 11389301 )
2001
40
The diagnosis of carnitine palmitoyltransferase II deficiency is now possible in small skeletal muscle biopsies. ( 10896292 )
2000
41
Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency. ( 10862092 )
2000
42
Muscular carnitine palmitoyltransferase II deficiency in infancy. ( 10738923 )
2000
43
Novel mutations associated with carnitine palmitoyltransferase II deficiency. ( 10090476 )
1999
44
Rapid, cost-effective gene mutation screening for carnitine palmitoyltransferase II deficiency using whole blood on filter paper. ( 10545085 )
1999
45
Genetics of carnitine palmitoyltransferase II deficiencies. ( 10709661 )
1999
46
Adult carnitine palmitoyltransferase II deficiency: detection of characteristic carnitine esters in serum by tandem mass spectrometry. ( 10604150 )
1999
47
Fatal carnitine palmitoyltransferase II deficiency in a newborn: new phenotypic features. ( 9924637 )
1999
48
Biochemical and molecular correlations in carnitine palmitoyltransferase II deficiency. ( 10398218 )
1999
49
[Rhabdomyolysis in carnitine palmitoyltransferase II deficiency: developments in pathophysiology, diagnosis and therapy]. ( 9691338 )
1998
50
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

Variations for Carnitine Palmitoyltransferase Ii Deficiency

ClinVar genetic disease variations for Carnitine Palmitoyltransferase Ii Deficiency:

6 (show all 22)
id Gene Variation Type Significance SNP ID Assembly Location
1 CPT2 NM_000098.2(CPT2): c.1891C> T (p.Arg631Cys) single nucleotide variant Pathogenic rs74315293 GRCh37 Chromosome 1, 53679181: 53679181
2 CPT2 NM_000098.2(CPT2): c.338C> T (p.Ser113Leu) single nucleotide variant Pathogenic rs74315294 GRCh37 Chromosome 1, 53668099: 53668099
3 CPT2 NM_000098.2(CPT2): c.149C> A (p.Pro50His) single nucleotide variant Pathogenic rs28936375 GRCh37 Chromosome 1, 53662764: 53662764
4 CPT2 NM_000098.2(CPT2): c.1883A> C (p.Tyr628Ser) single nucleotide variant Pathogenic rs28936673 GRCh37 Chromosome 1, 53679173: 53679173
5 CPT2 NM_000098.2(CPT2): c.520G> A (p.Glu174Lys) single nucleotide variant Pathogenic rs28936674 GRCh37 Chromosome 1, 53675866: 53675866
6 CPT2 NM_000098.2(CPT2): c.1148T> A (p.Phe383Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs74315295 GRCh37 Chromosome 1, 53676494: 53676494
7 CPT2 NM_000098.2(CPT2): c.1507C> T (p.Arg503Cys) single nucleotide variant Pathogenic rs74315296 GRCh37 Chromosome 1, 53676853: 53676853
8 CPT2 CPT2, 1-BP INS/25-BP DEL, NT534 indel Pathogenic
9 CPT2 CPT2, IVS2AS, G-A, -1 single nucleotide variant Pathogenic
10 CPT2 CPT2, 11-BP DUP, NT997 duplication Pathogenic
11 CPT2 CPT2, 3-BP DEL/5-BP INS, NT109 indel Pathogenic
12 CPT2 NM_000098.2(CPT2): c.359A> G (p.Tyr120Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918528 GRCh37 Chromosome 1, 53675705: 53675705
13 CPT2 NM_000098.2(CPT2): c.1239_1240delGA (p.Lys414Thrfs) deletion Pathogenic rs397509431 GRCh37 Chromosome 1, 53676585: 53676586
14 CPT2 NM_000098.2(CPT2): c.641T> C (p.Met214Thr) single nucleotide variant Pathogenic rs515726174 GRCh37 Chromosome 1, 53675987: 53675987
15 CPT2 NM_000098.2(CPT2): c.983A> G (p.Asp328Gly) single nucleotide variant Pathogenic rs515726175 GRCh37 Chromosome 1, 53676329: 53676329
16 CPT2 NM_000098.2(CPT2): c.1145G> A (p.Arg382Lys) single nucleotide variant Pathogenic rs515726176 GRCh37 Chromosome 1, 53676491: 53676491
17 CPT2 NM_000098.2(CPT2): c.452G> A (p.Arg151Gln) single nucleotide variant Pathogenic rs515726177 GRCh37 Chromosome 1, 53675798: 53675798
18 CPT2 NM_000098.2(CPT2): c.1646G> A (p.Gly549Asp) single nucleotide variant Pathogenic rs186044004 GRCh37 Chromosome 1, 53678936: 53678936
19 CPT2 NM_000098.2(CPT2): c.1737delC (p.Tyr579Terfs) deletion Pathogenic rs515726178 GRCh37 Chromosome 1, 53679027: 53679027
20 CPT2 NM_000098.2(CPT2): c.1923_1935delGAAGGCCTTAGAA (p.Lys642Thrfs) deletion Pathogenic rs515726179 GRCh37 Chromosome 1, 53679213: 53679225
21 CPT2 NM_000098.2(CPT2): c.886C> T (p.Arg296Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727503887 GRCh37 Chromosome 1, 53676232: 53676232
22 CPT2 NM_000098.2(CPT2): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201065226 GRCh37 Chromosome 1, 53675716: 53675716

Expression for Carnitine Palmitoyltransferase Ii Deficiency

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

Pathways for Carnitine Palmitoyltransferase Ii Deficiency

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

(show all 14)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 ACADL ACADVL CPT1A CPT1B CPT2 CS
2
Show member pathways
12.57 ACADL ACADVL CPT1A CPT1B CPT2 HADHB
3
Show member pathways
11.87 CPT1A CPT1B CPT2
4 11.48 ACADL CPT1A CPT1B CPT2
5
Show member pathways
11.43 ACADL ACADVL HADHB
6
Show member pathways
11.4 ACADL ACADVL CPT1A CPT1B CPT2 HADHB
7 11.38 CPT1A CPT1B
8
Show member pathways
11.34 CPT1A CPT1B
9
Show member pathways
11.23 ACADL HADHB
10 11.21 CPT1A CPT1B
11 11.19 ACADVL CPT1A CPT1B
12 10.89 CPT1A CPT2
13
Show member pathways
10.89 ACADL ACADVL CPT1A CPT1B CPT2 HADHB
14 10.5 CPT1A CPT1B CPT2 SLC25A20

GO Terms for Carnitine Palmitoyltransferase Ii Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.46 ACADL ACADVL CS ETFDH
2 mitochondrial outer membrane GO:0005741 9.43 CPT1A CPT1B HADHB
3 mitochondrial inner membrane GO:0005743 9.43 ACADVL CPT1A CPT2 ETFDH HADHB SLC25A20
4 mitochondrial nucleoid GO:0042645 9.32 ACADVL HADHB
5 mitochondrion GO:0005739 9.28 ACADL ACADVL CPT1A CPT1B CPT2 CS

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

id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.8 ACADL ACADVL CPT1A CPT1B CPT2 HADHB
2 fatty acid metabolic process GO:0006631 9.63 ACADL ACADVL CPT1A CPT1B CPT2 HADHB
3 epithelial cell differentiation GO:0030855 9.48 ACADVL CPT1A
4 temperature homeostasis GO:0001659 9.46 ACADL ACADVL
5 negative regulation of fatty acid biosynthetic process GO:0045717 9.43 ACADL ACADVL
6 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.43 ACADL ACADVL ETFDH
7 regulation of cholesterol metabolic process GO:0090181 9.4 ACADL ACADVL
8 negative regulation of fatty acid oxidation GO:0046322 9.37 ACADL ACADVL
9 carnitine shuttle GO:0006853 9.26 CPT1A CPT1B CPT2 SLC25A20
10 fatty acid beta-oxidation GO:0006635 9.1 ACADL ACADVL CPT1A CPT1B CPT2 HADHB

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

id Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.8 CPT1A CPT1B CPT2 CS HADHB
2 flavin adenine dinucleotide binding GO:0050660 9.43 ACADL ACADVL ETFDH
3 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.37 ACADL ACADVL
4 acyl-CoA dehydrogenase activity GO:0003995 9.32 ACADL ACADVL
5 transferase activity, transferring acyl groups GO:0016746 9.26 CPT1A CPT1B CPT2 HADHB
6 long-chain-acyl-CoA dehydrogenase activity GO:0004466 9.16 ACADL ACADVL
7 carnitine O-palmitoyltransferase activity GO:0004095 8.8 CPT1A CPT1B CPT2

Sources for Carnitine Palmitoyltransferase Ii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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