CPT2DI
MCID: CRN296
MIFTS: 60

Carnitine Palmitoyltransferase Ii Deficiency, Infantile (CPT2DI)

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

Aliases & Classifications for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

MalaCards integrated aliases for Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

Name: Carnitine Palmitoyltransferase Ii Deficiency, Infantile 58 30 6 41 74
Carnitine Palmitoyltransferase Ii Deficiency 12 77 25 26 60 38 30 56 6 15
Carnitine Palmitoyltransferase Ii Deficiency with Hypoketotic Hypoglycemia 58 76
Carnitine Palmitoyltransferase Ii Deficiency, Hepatocardiomuscular 58 76
Carnitine Palmitoyltransferase Deficiency Type 2 54 60
Carnitine Palmitoyl Transferase 2 Deficiency 45 74
Carnitine Palmitoyltransferase 2 Deficiency 54 26
Cpt Ii Deficiency, Hepatic 58 76
Cpt2 Deficiency, Infantile 58 76
Cpt Ii Deficiency 25 26
Cpt2 54 60
Carnitine Palmitoyl Transferase Deficiency Type 2, Hepatocardiomuscular Form 60
Carnitine Palmitoyl Transferase Ii Deficiency, Hepatocardiomuscular Form 60
Carnitine Palmitoyl Transferase Deficiency Type 2, Severe Infantile Form 60
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form 60
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 74
Lethal Neonatal Carnitine Palmitoyltransferase Ii Deficiency 12
Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset 74
Late-Onset Carnitine Palmitoyltransferase Ii Deficiency 12
Infantile Carnitine Palmitoyltransferase Ii Deficiency 12
Carnitine Palmitoyltransferase 2 Deficiency, Infantile 76
Carnitine Palmitoyltransferase Ii Deficiency 54
Carnitine Palmitoyltransferase Ii 13
Cptii, Hepatocardiomuscular Form 60
Cpt Deficiency, Hepatic, Type Ii 13
Cpt2, Hepatocardiomuscular Form 60
Cpt Ii Deficiency, Infantile 58
Cptii, Severe Infantile Form 60
Cpt2, Severe Infantile Form 60
Cpt2 Deficiency 26
Cpt-Ii 12
Cpt2di 76
Cptii 60

Characteristics:

Orphanet epidemiological data:

60
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 ii deficiency, severe infantile form
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy (3 months on)
precipitated by febrile illness and fasting
see also lethal neonatal and adult forms


HPO:

33
carnitine palmitoyltransferase ii deficiency, infantile:
Clinical modifier death in infancy
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

NIH Rare Diseases : 54 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.  

MalaCards based summary : Carnitine Palmitoyltransferase Ii Deficiency, Infantile, also known as carnitine palmitoyltransferase ii deficiency, is related to carnitine-acylcarnitine translocase deficiency and multiple acyl-coa dehydrogenase deficiency, and has symptoms including seizures, vomiting and respiratory distress. An important gene associated with Carnitine Palmitoyltransferase Ii Deficiency, Infantile is CPT2 (Carnitine Palmitoyltransferase 2), and among its related pathways/superpathways are Fatty acid degradation and Fatty acid metabolism. The drugs Bezafibrate and Antimetabolites have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and kidney, and related phenotypes are seizures and muscle weakness

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 : 26 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.

OMIM : 58 Carnitine palmitoyltransferase II deficiency is an inherited disorder of mitochondrial long-chain fatty acid oxidation. The infantile form usually presents between 6 and 24 months of age with recurrent attacks of hypoketotic hypoglycemia causing loss of consciousness and seizures, liver failure, and transient hepatomegaly. Some children also have heart involvement with cardiomyopathy and arrhythmia. Episodes are triggered by infections, fever, or fasting. Laboratory studies usually indicate hyperammonemia, metabolic acidosis, and hypoketotic hypoglycemia with elevated levels of creatine kinase (summary by Longo et al., 2006). See also the lethal neonatal (608836) and adult-onset (255110) forms of the disorder, which are also caused by mutation in the CPT2 gene. (600649)

UniProtKB/Swiss-Prot : 76 Carnitine palmitoyltransferase 2 deficiency, infantile: An autosomal recessive 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.

Wikipedia : 77 Carnitine palmitoyltransferase II deficiency is an autosomal recessively inherited genetic metabolic... more...

GeneReviews: NBK1253

Related Diseases for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

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

(show all 45)
# Related Disease Score Top Affiliating Genes
1 carnitine-acylcarnitine translocase deficiency 31.7 CPT1A CPT2 SLC25A20
2 multiple acyl-coa dehydrogenase deficiency 31.6 ACADVL CPT2 ETFDH
3 carnitine deficiency, systemic primary 31.3 ACADVL CPT2 ETFDH SLC25A20
4 acyl-coa dehydrogenase, very long-chain, deficiency of 30.7 ACADL ACADVL CPT2 HADHA SLC25A20
5 myoglobinuria 30.6 ACADVL CPT2
6 myoglobinuria, recurrent 30.6 ACADVL CPT2
7 visceral steatosis 30.3 CPT1A CPT1B
8 carnitine palmitoyltransferase i deficiency 30.2 ACADVL CPT1A CPT1B CPT2 CRAT HADHA
9 hypoglycemia 29.4 ACADL ACADVL CPT1A CPT2 SLC25A20
10 carnitine palmitoyltransferase ii deficiency, lethal neonatal 13.0
11 encephalopathy, acute, infection-induced 4 11.4
12 glycogen storage disease v 11.2
13 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 11.2
14 dilated cardiomyopathy 11.2
15 diabetes mellitus, noninsulin-dependent 11.1
16 abetalipoproteinemia 11.1
17 acyl-coa dehydrogenase, short-chain, deficiency of 11.1
18 glycogen storage disease iv 11.1
19 arthritis 11.0
20 pancytopenia 11.0
21 pain - chronic 11.0
22 dysautonomia 11.0
23 influenza 10.2
24 carnitine palmitoyltransferase ii deficiency, myopathic, stress-induced 10.2
25 dandy-walker syndrome 10.1
26 pancreatitis 10.1
27 malignant hyperthermia 10.1
28 myocardial infarction 10.1
29 acute myocardial infarction 10.1
30 chronic fatigue syndrome 10.1
31 rapidly involuting congenital hemangioma 10.1
32 neuroleptic malignant syndrome 10.1
33 status epilepticus 10.1
34 myopathy 10.1
35 carcinosarcoma 10.1
36 brain injury 10.0
37 traumatic brain injury 10.0
38 encephalitis 10.0
39 encephalopathy 10.0
40 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 9.9 ACADVL HADHA
41 atrial standstill 1 9.8 ACADVL HADHA SLC25A20
42 3-hydroxyacyl-coa dehydrogenase deficiency 9.8 ACADVL ETFDH HADHA
43 muscular disease 9.8 ACADVL CPT2 ETFDH
44 acyl-coa dehydrogenase, medium-chain, deficiency of 9.7 ACADL ACADVL HADHA
45 holocarboxylase synthetase deficiency 9.7 ACADL SLC25A20

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



Diseases related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile

Symptoms & Phenotypes for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

Human phenotypes related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

60 33 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 60 33 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001250
2 muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001324
3 hepatomegaly 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002240
4 myopathy 60 33 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0003198
5 elevated hepatic transaminase 60 33 hallmark (90%) Very frequent (99-80%) HP:0002910
6 cardiomyopathy 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001638
7 myalgia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003326
8 hypoketotic hypoglycemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001985
9 abnormal circulating long-chain fatty-acid concentration 33 hallmark (90%) HP:0010964
10 abnormal circulating acetylcarnitine concentration 33 hallmark (90%) HP:0012071
11 nausea and vomiting 60 33 frequent (33%) Frequent (79-30%) HP:0002017
12 cerebral calcification 60 33 frequent (33%) Frequent (79-30%) HP:0002514
13 renal insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0000083
14 arrhythmia 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0011675
15 multicystic kidney dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0000003
16 sudden cardiac death 60 33 occasional (7.5%) Occasional (29-5%) HP:0001645
17 encephalitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002383
18 hypoglycemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001943
19 hepatic failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0001399
20 coma 60 33 occasional (7.5%) Occasional (29-5%) HP:0001259
21 reduced consciousness/confusion 60 Occasional (29-5%)
22 vomiting 33 HP:0002013
23 cardiomegaly 33 HP:0001640
24 death in infancy 60 Occasional (29-5%)
25 abnormality of nervous system morphology 60 Frequent (79-30%)
26 dilated cardiomyopathy 33 HP:0001644
27 abnormality of the kidney 60 Very frequent (99-80%)
28 hyperammonemia 33 HP:0001987
29 lethargy 33 HP:0001254
30 abnormality of long-chain fatty-acid metabolism 60 Very frequent (99-80%)
31 abnormality of acetylcarnitine metabolism 60 Very frequent (99-80%)
32 macrovesicular hepatic steatosis 33 HP:0001403
33 respiratory arrest 33 HP:0005943
34 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
lethargy

Abdomen Gastrointestinal:
vomiting

Laboratory Abnormalities:
hyperammonemia
increased creatine kinase
decreased carnitine palmitoyltransferase ii (cpt2) activity
decreased levels of cpt2 protein
decreased palmitate oxidation
more
Respiratory:
respiratory arrest

Abdomen Liver:
hepatomegaly
macrovesicular steatosis

Cardiovascular Heart:
cardiomegaly
dilated cardiomyopathy

Metabolic Features:
hypoketotic hypoglycemia

Clinical features from OMIM:

600649

UMLS symptoms related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:


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

MGI Mouse Phenotypes related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.76 ACADL ACADVL CPT1A CPT2 CRAT ETFDH
2 homeostasis/metabolism MP:0005376 9.56 ACADL ACADVL CPT1A CPT1B CPT2 CRAT
3 mortality/aging MP:0010768 9.28 ACADL ACADVL CPT1A CPT1B CPT2 CS

Drugs & Therapeutics for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

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

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved, Investigational Phase 3,Phase 2 41859-67-0 39042
2 Antimetabolites Phase 3,Phase 2
3 carnitine Phase 3
4 Hypolipidemic Agents Phase 3,Phase 2
5 Lipid Regulating Agents Phase 3,Phase 2
6
Resveratrol Approved, Experimental, Investigational Not Applicable 501-36-0 445154
7
Heparin Approved, Investigational Not Applicable 9005-49-6 46507594 772
8
Glycerol Approved, Investigational Not Applicable 56-81-5 753
9
Calcium Approved, Nutraceutical Not Applicable 7440-70-2 271
10 Peripheral Nervous System Agents Not Applicable
11 Anti-Inflammatory Agents, Non-Steroidal Not Applicable
12 Analgesics, Non-Narcotic Not Applicable
13 Anti-Inflammatory Agents Not Applicable
14 Antirheumatic Agents Not Applicable
15 Antioxidants Not Applicable
16 Antineoplastic Agents, Phytogenic Not Applicable
17 Protective Agents Not Applicable
18 Platelet Aggregation Inhibitors Not Applicable
19 Analgesics Not Applicable
20 Fat Emulsions, Intravenous Not Applicable
21 Soybean oil, phospholipid emulsion Not Applicable
22 Calcium, Dietary Not Applicable
23 Anticoagulants Not Applicable
24 Insulin, Globin Zinc Not Applicable
25 Parenteral Nutrition Solutions Not Applicable
26 Fibrinolytic Agents Not Applicable
27 Soy Bean Not Applicable
28 Hypoglycemic Agents Not Applicable
29 calcium heparin Not Applicable
30 insulin Not Applicable
31 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Bezafibrate Trial in CPT2 Deficiency Unknown status NCT00336167 Phase 3 bezafibrate (drug)
2 Effect of Bezafibrate on Muscle Metabolism in Patients With Fatty Acid Oxidation Defects Completed NCT00983788 Phase 2 Bezafibrate
3 High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders Completed NCT01494051 Phase 1, Phase 2
4 Resveratrol Supplementation in Patients With Mitochondrial Myopathies and Skeletal Muscle Fatty Acid Oxidation Disorders Recruiting NCT03728777 Not Applicable
5 Fatty Acid Oxidation Defects and Insulin Sensitivity Recruiting NCT02517307 Not Applicable Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
6 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable

Search NIH Clinical Center for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

Cochrane evidence based reviews: carnitine palmitoyl transferase 2 deficiency

Genetic Tests for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

Genetic tests related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

# Genetic test Affiliating Genes
1 Carnitine Palmitoyltransferase Ii Deficiency 30 CPT2
2 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 30 CPT2

Anatomical Context for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

MalaCards organs/tissues related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

42
Liver, Heart, Kidney, Skeletal Muscle, Testes, Brain, Whole Blood

Publications for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

Articles related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

(show top 50) (show all 76)
# Title Authors Year
1
Carnitine palmitoyltransferase II deficiency with a focus on newborn screening. ( 30514913 )
2019
2
Carnitine Palmitoyltransferase II Deficiency (CPT II) Followed By Rhabdomyolysis and Acute Kidney Injury. ( 29731937 )
2018
3
Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt. ( 29744303 )
2018
4
Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency. ( 27067077 )
2017
5
Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features. ( 28054946 )
2017
6
A newborn case with carnitine palmitoyltransferase II deficiency initially judged as unaffected by acylcarnitine analysis soon after birth. ( 28516040 )
2017
7
A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency. ( 28529889 )
2017
8
Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity. ( 28801073 )
2017
9
First Japanese Case of Carnitine Palmitoyltransferase II Deficiency with the Homozygous Point Mutation S113L. ( 27629963 )
2016
10
Neonatal Carnitine Palmitoyltransferase II Deficiency: A Lethal Entity. ( 26557586 )
2015
11
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). ( 25173338 )
2014
12
Normal protein content but abnormally inhibited enzyme activity in muscle carnitine palmitoyltransferase II deficiency. ( 24602495 )
2014
13
Functional analysis of iPSC-derived myocytes from a patient with carnitine palmitoyltransferase II deficiency. ( 24780397 )
2014
14
Novel mutations in the gene encoding very long-chain acyl-CoA dehydrogenase identified in patients with partial carnitine palmitoyltransferase II deficiency. ( 23169530 )
2013
15
Novel mutations in myopathic form of carnitine palmitoyltransferase II deficiency in a Chinese patient. ( 23911907 )
2013
16
Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death. ( 21641254 )
2011
17
Malignant hyperthermia-like syndrome and carnitine palmitoyltransferase II deficiency with heterozygous R503C mutation. ( 19762733 )
2009
18
Severe infantile carnitine palmitoyltransferase II deficiency in 19-week fetal sibs. ( 19335026 )
2009
19
Neonatal carnitine palmitoyltransferase II deficiency: failure of treatment despite prolonged survival. ( 21709843 )
2009
20
[A case report of carnitine palmitoyltransferase II deficiency]. ( 19222961 )
2009
21
Severe rhabdomyolysis with hypoglycemia in an adult patient with carnitine palmitoyltransferase II deficiency. ( 18471680 )
2008
22
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. ( 18550408 )
2008
23
Autopsy case of the neonatal form of carnitine palmitoyltransferase-II deficiency triggered by a novel disease-causing mutation del1737C. ( 18577113 )
2008
24
Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy. ( 18645163 )
2008
25
Reversible asphyxial status in a newborn due to neonatal form of carnitine palmitoyltransferase II deficiency. ( 18987586 )
2008
26
A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation. ( 17709715 )
2007
27
Anesthetic management of a parturient with carnitine palmitoyltransferase II deficiency. ( 16636033 )
2006
28
Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency. ( 16996287 )
2006
29
Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: clinical, biochemical, and genetic features of adult-onset cases. ( 15776096 )
2005
30
Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects. ( 15642848 )
2005
31
Quantitation of long-chain acylcarnitines by HPLC/fluorescence detection: application to plasma and tissue specimens from patients with carnitine palmitoyltransferase-II deficiency. ( 15653102 )
2005
32
Carnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF. ( 15754283 )
2005
33
Lethal neonatal carnitine palmitoyltransferase II deficiency: an unusual presentation of a rare disorder. ( 12638078 )
2003
34
Carnitine palmitoyltransferase II deficiency: molecular and biochemical analysis of 32 patients. ( 12707442 )
2003
35
A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency. ( 12809643 )
2003
36
Effect of diet on exercise tolerance in carnitine palmitoyltransferase II deficiency. ( 12939440 )
2003
37
Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. ( 14615409 )
2003
38
Acute renal failure due to carnitine palmitoyltransferase II deficiency. ( 15025419 )
2003
39
Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry. ( 11999976 )
2002
40
Phenotypic variability among first-degree relatives with carnitine palmitoyltransferase II deficiency. ( 12362414 )
2002
41
Exercise tolerance in carnitine palmitoyltransferase II deficiency with IV and oral glucose. ( 12370460 )
2002
42
Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations. ( 12410208 )
2002
43
A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency. ( 11855939 )
2002
44
[Carnitine palmitoyltransferase II deficiency]. ( 12013980 )
2002
45
Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry. ( 11389301 )
2001
46
Antenatal presentation of carnitine palmitoyltransferase II deficiency. ( 11477613 )
2001
47
"Adult" form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child. ( 11585077 )
2001
48
Muscular carnitine palmitoyltransferase II deficiency in infancy. ( 10738923 )
2000
49
Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency. ( 10862092 )
2000
50
The diagnosis of carnitine palmitoyltransferase II deficiency is now possible in small skeletal muscle biopsies. ( 10896292 )
2000

Variations for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

UniProtKB/Swiss-Prot genetic disease variations for Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

76
# Symbol AA change Variation ID SNP ID
1 CPT2 p.Tyr628Ser VAR_001398 rs28936673
2 CPT2 p.Arg631Cys VAR_001399 rs74315293

ClinVar genetic disease variations for Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

6 (show top 50) (show all 350)
# 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.1891C> T (p.Arg631Cys) single nucleotide variant Pathogenic rs74315293 GRCh38 Chromosome 1, 53213509: 53213509
3 CPT2 NM_000098.2(CPT2): c.338C> T (p.Ser113Leu) single nucleotide variant Pathogenic rs74315294 GRCh37 Chromosome 1, 53668099: 53668099
4 CPT2 NM_000098.2(CPT2): c.338C> T (p.Ser113Leu) single nucleotide variant Pathogenic rs74315294 GRCh38 Chromosome 1, 53202427: 53202427
5 CPT2 NM_000098.2(CPT2): c.149C> A (p.Pro50His) single nucleotide variant Pathogenic rs28936375 GRCh37 Chromosome 1, 53662764: 53662764
6 CPT2 NM_000098.2(CPT2): c.149C> A (p.Pro50His) single nucleotide variant Pathogenic rs28936375 GRCh38 Chromosome 1, 53197092: 53197092
7 CPT2 NM_000098.2(CPT2): c.1657G> A (p.Asp553Asn) single nucleotide variant Uncertain significance rs28936376 GRCh37 Chromosome 1, 53678947: 53678947
8 CPT2 NM_000098.2(CPT2): c.1657G> A (p.Asp553Asn) single nucleotide variant Uncertain significance rs28936376 GRCh38 Chromosome 1, 53213275: 53213275
9 CPT2 NM_000098.2(CPT2): c.1883A> C (p.Tyr628Ser) single nucleotide variant Likely pathogenic rs28936673 GRCh37 Chromosome 1, 53679173: 53679173
10 CPT2 NM_000098.2(CPT2): c.1883A> C (p.Tyr628Ser) single nucleotide variant Likely pathogenic rs28936673 GRCh38 Chromosome 1, 53213501: 53213501
11 CPT2 NM_000098.2(CPT2): c.520G> A (p.Glu174Lys) single nucleotide variant Likely pathogenic rs28936674 GRCh37 Chromosome 1, 53675866: 53675866
12 CPT2 NM_000098.2(CPT2): c.520G> A (p.Glu174Lys) single nucleotide variant Likely pathogenic rs28936674 GRCh38 Chromosome 1, 53210194: 53210194
13 CPT2 NM_000098.2(CPT2): c.1148T> A (p.Phe383Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs74315295 GRCh37 Chromosome 1, 53676494: 53676494
14 CPT2 NM_000098.2(CPT2): c.1148T> A (p.Phe383Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs74315295 GRCh38 Chromosome 1, 53210822: 53210822
15 CPT2 NM_000098.2(CPT2): c.1507C> T (p.Arg503Cys) single nucleotide variant Likely pathogenic rs74315296 GRCh37 Chromosome 1, 53676853: 53676853
16 CPT2 NM_000098.2(CPT2): c.1507C> T (p.Arg503Cys) single nucleotide variant Likely pathogenic rs74315296 GRCh38 Chromosome 1, 53211181: 53211181
17 CPT2 NM_000098.2(CPT2): c.1342T> C (p.Phe448Leu) single nucleotide variant Conflicting interpretations of pathogenicity, other rs74315297 GRCh37 Chromosome 1, 53676688: 53676688
18 CPT2 NM_000098.2(CPT2): c.1342T> C (p.Phe448Leu) single nucleotide variant Conflicting interpretations of pathogenicity, other rs74315297 GRCh38 Chromosome 1, 53211016: 53211016
19 CPT2 NM_000098.2(CPT2): c.680C> T (p.Pro227Leu) single nucleotide variant Pathogenic/Likely pathogenic rs74315298 GRCh37 Chromosome 1, 53676026: 53676026
20 CPT2 NM_000098.2(CPT2): c.680C> T (p.Pro227Leu) single nucleotide variant Pathogenic/Likely pathogenic rs74315298 GRCh38 Chromosome 1, 53210354: 53210354
21 CPT2 NM_000098.2(CPT2): c.359A> G (p.Tyr120Cys) single nucleotide variant Likely pathogenic rs121918528 GRCh37 Chromosome 1, 53675705: 53675705
22 CPT2 NM_000098.2(CPT2): c.359A> G (p.Tyr120Cys) single nucleotide variant Likely pathogenic rs121918528 GRCh38 Chromosome 1, 53210033: 53210033
23 CPT2 NM_000098.2(CPT2): c.1055T> G (p.Phe352Cys) single nucleotide variant Benign/Likely benign rs2229291 GRCh37 Chromosome 1, 53676401: 53676401
24 CPT2 NM_000098.2(CPT2): c.1055T> G (p.Phe352Cys) single nucleotide variant Benign/Likely benign rs2229291 GRCh38 Chromosome 1, 53210729: 53210729
25 CPT2 NM_000098.2(CPT2): c.1102G> A (p.Val368Ile) single nucleotide variant Benign rs1799821 GRCh37 Chromosome 1, 53676448: 53676448
26 CPT2 NM_000098.2(CPT2): c.1102G> A (p.Val368Ile) single nucleotide variant Benign rs1799821 GRCh38 Chromosome 1, 53210776: 53210776
27 CPT2 NM_000098.2(CPT2): c.1239_1240delGA (p.Lys414Thrfs) deletion Pathogenic rs397509431 GRCh37 Chromosome 1, 53676585: 53676586
28 CPT2 NM_000098.2(CPT2): c.1239_1240delGA (p.Lys414Thrfs) deletion Pathogenic rs397509431 GRCh38 Chromosome 1, 53210913: 53210914
29 CPT2 NM_000098.2(CPT2): c.1767G> A (p.Thr589=) single nucleotide variant Benign rs77565483 GRCh37 Chromosome 1, 53679057: 53679057
30 CPT2 NM_000098.2(CPT2): c.1767G> A (p.Thr589=) single nucleotide variant Benign rs77565483 GRCh38 Chromosome 1, 53213385: 53213385
31 CPT2 NM_000098.2(CPT2): c.1939A> G (p.Met647Val) single nucleotide variant Benign/Likely benign rs1799822 GRCh37 Chromosome 1, 53679229: 53679229
32 CPT2 NM_000098.2(CPT2): c.1939A> G (p.Met647Val) single nucleotide variant Benign/Likely benign rs1799822 GRCh38 Chromosome 1, 53213557: 53213557
33 CPT2 NM_000098.2(CPT2): c.534_558del25insT (p.Leu178_Ile186delinsPhe) indel Conflicting interpretations of pathogenicity rs515726173 GRCh37 Chromosome 1, 53675880: 53675904
34 CPT2 NM_000098.2(CPT2): c.534_558del25insT (p.Leu178_Ile186delinsPhe) indel Conflicting interpretations of pathogenicity rs515726173 GRCh38 Chromosome 1, 53210208: 53210232
35 CPT2 NM_000098.2(CPT2): c.641T> C (p.Met214Thr) single nucleotide variant Pathogenic rs515726174 GRCh37 Chromosome 1, 53675987: 53675987
36 CPT2 NM_000098.2(CPT2): c.641T> C (p.Met214Thr) single nucleotide variant Pathogenic rs515726174 GRCh38 Chromosome 1, 53210315: 53210315
37 CPT2 NM_000098.2(CPT2): c.983A> G (p.Asp328Gly) single nucleotide variant Pathogenic rs515726175 GRCh37 Chromosome 1, 53676329: 53676329
38 CPT2 NM_000098.2(CPT2): c.983A> G (p.Asp328Gly) single nucleotide variant Pathogenic rs515726175 GRCh38 Chromosome 1, 53210657: 53210657
39 CPT2 NM_000098.2(CPT2): c.1145G> A (p.Arg382Lys) single nucleotide variant Pathogenic rs515726176 GRCh37 Chromosome 1, 53676491: 53676491
40 CPT2 NM_000098.2(CPT2): c.1145G> A (p.Arg382Lys) single nucleotide variant Pathogenic rs515726176 GRCh38 Chromosome 1, 53210819: 53210819
41 CPT2 NM_000098.2(CPT2): c.452G> A (p.Arg151Gln) single nucleotide variant Pathogenic/Likely pathogenic rs515726177 GRCh37 Chromosome 1, 53675798: 53675798
42 CPT2 NM_000098.2(CPT2): c.452G> A (p.Arg151Gln) single nucleotide variant Pathogenic/Likely pathogenic rs515726177 GRCh38 Chromosome 1, 53210126: 53210126
43 CPT2 NM_000098.2(CPT2): c.1646G> A (p.Gly549Asp) single nucleotide variant Uncertain significance rs186044004 GRCh37 Chromosome 1, 53678936: 53678936
44 CPT2 NM_000098.2(CPT2): c.1646G> A (p.Gly549Asp) single nucleotide variant Uncertain significance rs186044004 GRCh38 Chromosome 1, 53213264: 53213264
45 CPT2 NM_000098.2(CPT2): c.1737delC (p.Tyr579Terfs) deletion Pathogenic rs515726178 GRCh37 Chromosome 1, 53679027: 53679027
46 CPT2 NM_000098.2(CPT2): c.1737delC (p.Tyr579Terfs) deletion Pathogenic rs515726178 GRCh38 Chromosome 1, 53213355: 53213355
47 CPT2 NM_000098.2(CPT2): c.1923_1935delGAAGGCCTTAGAA (p.Lys642Thrfs) deletion Pathogenic rs515726179 GRCh37 Chromosome 1, 53679213: 53679225
48 CPT2 NM_000098.2(CPT2): c.1923_1935delGAAGGCCTTAGAA (p.Lys642Thrfs) deletion Pathogenic rs515726179 GRCh38 Chromosome 1, 53213541: 53213553
49 CPT2 NM_000098.2(CPT2): c.302C> T (p.Ala101Val) single nucleotide variant Benign rs75939866 GRCh37 Chromosome 1, 53668063: 53668063
50 CPT2 NM_000098.2(CPT2): c.302C> T (p.Ala101Val) single nucleotide variant Benign rs75939866 GRCh38 Chromosome 1, 53202391: 53202391

Expression for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

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

Pathways for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

Pathways related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile according to KEGG:

38
# Name Kegg Source Accession
1 Fatty acid degradation hsa00071
2 Fatty acid metabolism hsa01212

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 ACADL ACADVL CPT1A CPT1B CPT2 CRAT
2
Show member pathways
13.21 CPT1A CPT1B CPT2 CS ETFDH SLC25A20
3
Show member pathways
12.57 ACADL ACADVL CPT1A CPT1B CPT2 HADHA
4
Show member pathways
11.94 CPT1A CPT1B CPT2 CRAT
5 11.49 ACADL CPT1A CPT1B CPT2
6
Show member pathways
11.45 ACADL ACADVL HADHA
7
Show member pathways
11.42 ACADL ACADVL CPT1A CPT1B CPT2 HADHA
8 11.38 CPT1A CPT1B
9
Show member pathways
11.34 CPT1A CPT1B
10 11.25 ACADVL CPT1A CPT1B
11 11.23 CPT1A CPT1B
12
Show member pathways
10.95 ACADL ACADVL CPT1A CPT1B CPT2 CRAT
13 10.91 CPT1A CPT2
14 10.5 CPT1A CPT1B CPT2 SLC25A20

GO Terms for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.46 ACADL ACADVL CS ETFDH
2 mitochondrial membrane GO:0031966 9.43 ACADL ACADVL ETFDH
3 mitochondrial inner membrane GO:0005743 9.43 ACADVL CPT2 CRAT ETFDH HADHA SLC25A20
4 mitochondrial nucleoid GO:0042645 9.32 ACADVL HADHA
5 mitochondrion GO:0005739 9.32 ACADL ACADVL CPT1A CPT1B CPT2 CRAT

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.81 ACADL ACADVL ETFDH HADHA
2 lipid metabolic process GO:0006629 9.8 ACADL ACADVL CPT1A CPT1B CPT2 CRAT
3 epithelial cell differentiation GO:0030855 9.52 ACADVL CPT1A
4 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.5 ACADL ACADVL ETFDH
5 fatty acid metabolic process GO:0006631 9.5 ACADL ACADVL CPT1A CPT1B CPT2 CRAT
6 temperature homeostasis GO:0001659 9.49 ACADL ACADVL
7 negative regulation of fatty acid biosynthetic process GO:0045717 9.48 ACADL ACADVL
8 regulation of cholesterol metabolic process GO:0090181 9.46 ACADL ACADVL
9 carnitine shuttle GO:0006853 9.46 CPT1A CPT1B CPT2 SLC25A20
10 carnitine metabolic process GO:0009437 9.43 CPT1A CPT1B
11 negative regulation of fatty acid oxidation GO:0046322 9.4 ACADL ACADVL
12 carnitine metabolic process, CoA-linked GO:0019254 9.37 ACADL CRAT
13 fatty acid beta-oxidation GO:0006635 9.1 ACADL ACADVL CPT1A CPT1B CPT2 HADHA

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.85 CPT1A CPT1B CPT2 CRAT CS
2 oxidoreductase activity GO:0016491 9.73 ACADL ACADVL ETFDH HADHA
3 flavin adenine dinucleotide binding GO:0050660 9.5 ACADL ACADVL ETFDH
4 transferase activity, transferring acyl groups GO:0016746 9.46 CPT1A CPT1B CPT2 CRAT
5 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.4 ACADL ACADVL
6 acyl-CoA dehydrogenase activity GO:0003995 9.37 ACADL ACADVL
7 long-chain-acyl-CoA dehydrogenase activity GO:0004466 9.26 ACADL ACADVL
8 fatty-acyl-CoA binding GO:0000062 9.13 ACADL ACADVL HADHA
9 carnitine O-palmitoyltransferase activity GO:0004095 8.8 CPT1A CPT1B CPT2

Sources for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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