MCID: CRN296
MIFTS: 60

Carnitine Palmitoyltransferase Ii Deficiency, Infantile

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

Aliases & Classifications for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

MalaCards integrated aliases for Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

Name: Carnitine Palmitoyltransferase Ii Deficiency, Infantile 57 29 6 40 73
Carnitine Palmitoyltransferase Ii Deficiency 12 76 24 25 59 37 29 55 6 15
Carnitine Palmitoyltransferase Ii Deficiency with Hypoketotic Hypoglycemia 57 75
Carnitine Palmitoyltransferase Ii Deficiency, Hepatocardiomuscular 57 75
Carnitine Palmitoyltransferase Deficiency Type 2 53 59
Carnitine Palmitoyl Transferase 2 Deficiency 44 73
Carnitine Palmitoyltransferase 2 Deficiency 53 25
Cpt Ii Deficiency, Hepatic 57 75
Cpt2 Deficiency, Infantile 57 75
Cpt Ii Deficiency 24 25
Cpt2 53 59
Carnitine Palmitoyl Transferase Deficiency Type 2, Hepatocardiomuscular Form 59
Carnitine Palmitoyl Transferase Ii Deficiency, Hepatocardiomuscular Form 59
Carnitine Palmitoyl Transferase Deficiency Type 2, Severe Infantile Form 59
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form 59
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 73
Lethal Neonatal Carnitine Palmitoyltransferase Ii Deficiency 12
Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset 73
Late-Onset Carnitine Palmitoyltransferase Ii Deficiency 12
Infantile Carnitine Palmitoyltransferase Ii Deficiency 12
Carnitine Palmitoyltransferase 2 Deficiency, Infantile 75
Carnitine Palmitoyltransferase Ii Deficiency 53
Carnitine Palmitoyltransferase Ii 13
Cptii, Hepatocardiomuscular Form 59
Cpt Deficiency, Hepatic, Type Ii 13
Cpt2, Hepatocardiomuscular Form 59
Cpt Ii Deficiency, Infantile 57
Cptii, Severe Infantile Form 59
Cpt2, Severe Infantile Form 59
Cpt2 Deficiency 25
Cpt-Ii 12
Cpt2di 75
Cptii 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive

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


HPO:

32
carnitine palmitoyltransferase ii deficiency, infantile:
Mortality/Aging death in infancy
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

NIH Rare Diseases : 53 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 myoglobinuria, recurrent and myoglobinuria, and has symptoms including muscle cramp, muscular stiffness and myalgia. 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 Hypolipidemic Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and kidney, and related phenotypes are multicystic kidney dysplasia and renal insufficiency

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.

OMIM : 57 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 : 75 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 : 76 Carnitine palmitoyltransferase II deficiency (CPT-II) is an autosomal recessively inherited genetic... more...

GeneReviews: NBK1253

Related Diseases for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

59 32 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000003
2 renal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000083
3 seizures 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001250
4 coma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001259
5 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
6 cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001638
7 sudden cardiac death 59 32 occasional (7.5%) Occasional (29-5%) HP:0001645
8 hypoglycemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001943
9 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002240
10 encephalitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002383
11 cerebral calcification 59 32 frequent (33%) Frequent (79-30%) HP:0002514
12 elevated hepatic transaminases 59 32 hallmark (90%) Very frequent (99-80%) HP:0002910
13 myopathy 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0003198
14 myalgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003326
15 abnormality of long-chain fatty-acid metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0010964
16 arrhythmia 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0011675
17 abnormality of acetylcarnitine metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0012071
18 hepatic failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001399
19 hypoketotic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001985
20 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
21 abnormality of the kidney 59 Very frequent (99-80%)
22 reduced consciousness/confusion 59 Occasional (29-5%)
23 abnormality of nervous system morphology 59 Frequent (79-30%)
24 death in infancy 59 Occasional (29-5%)
25 lethargy 32 HP:0001254
26 macrovesicular hepatic steatosis 32 HP:0001403
27 cardiomegaly 32 HP:0001640
28 dilated cardiomyopathy 32 HP:0001644
29 hyperammonemia 32 HP:0001987
30 vomiting 32 HP:0002013
31 elevated serum creatine phosphokinase 32 HP:0003236
32 respiratory arrest 32 HP:0005943

UMLS symptoms related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:


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

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

46
# 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 ACADVL CPT1A CPT1B CPT2 CRAT HADHB
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 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved, Investigational Phase 3,Phase 2 41859-67-0 39042
2 Hypolipidemic Agents Phase 3,Phase 2
3 Lipid Regulating Agents Phase 3,Phase 2
4 Antimetabolites Phase 3,Phase 2
5 carnitine Nutraceutical Phase 3
6
Heparin Approved, Investigational Not Applicable 9005-49-6 772 46507594
7
Glycerol Approved, Investigational Not Applicable 56-81-5 753
8 calcium heparin Not Applicable
9 insulin Not Applicable
10 Fibrinolytic Agents Not Applicable
11 Soybean oil, phospholipid emulsion Not Applicable
12 Parenteral Nutrition Solutions Not Applicable
13 Hypoglycemic Agents Not Applicable
14 Pharmaceutical Solutions Not Applicable
15 Anticoagulants Not Applicable
16 Fat Emulsions, Intravenous Not Applicable
17 Insulin, Globin Zinc Not Applicable
18 Protective Agents Not Applicable
19 Calcium, Dietary Not Applicable
20 Soy Bean Nutraceutical 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 Fatty Acid Oxidation Defects and Insulin Sensitivity Recruiting NCT02517307 Not Applicable Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
5 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 29 CPT2
2 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 29 CPT2

Anatomical Context for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

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

41
Liver, Heart, Kidney, Testes, Skeletal Muscle, Brain, Whole Blood

Publications for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

Articles related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

(show top 50) (show all 72)
# Title Authors Year
1
A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency. ( 28529889 )
2017
2
Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features. ( 28054946 )
2017
3
A newborn case with carnitine palmitoyltransferase II deficiency initially judged as unaffected by acylcarnitine analysis soon after birth. ( 28516040 )
2017
4
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
5
Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency. ( 27067077 )
2016
6
First Japanese Case of Carnitine Palmitoyltransferase II Deficiency with the Homozygous Point Mutation S113L. ( 27629963 )
2016
7
Neonatal Carnitine Palmitoyltransferase II Deficiency: A Lethal Entity. ( 26557586 )
2015
8
Normal protein content but abnormally inhibited enzyme activity in muscle carnitine palmitoyltransferase II deficiency. ( 24602495 )
2014
9
Functional analysis of iPSC-derived myocytes from a patient with carnitine palmitoyltransferase II deficiency. ( 24780397 )
2014
10
Novel mutations in myopathic form of carnitine palmitoyltransferase II deficiency in a Chinese patient. ( 23911907 )
2013
11
Novel mutations in the gene encoding very long-chain acyl-CoA dehydrogenase identified in patients with partial carnitine palmitoyltransferase II deficiency. ( 23169530 )
2013
12
Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death. ( 21641254 )
2011
13
Severe infantile carnitine palmitoyltransferase II deficiency in 19-week fetal sibs. ( 19335026 )
2009
14
Neonatal carnitine palmitoyltransferase II deficiency: failure of treatment despite prolonged survival. ( 21709843 )
2009
15
Malignant hyperthermia-like syndrome and carnitine palmitoyltransferase II deficiency with heterozygous R503C mutation. ( 19762733 )
2009
16
[A case report of carnitine palmitoyltransferase II deficiency]. ( 19222961 )
2009
17
Severe rhabdomyolysis with hypoglycemia in an adult patient with carnitine palmitoyltransferase II deficiency. ( 18471680 )
2008
18
Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy. ( 18645163 )
2008
19
Reversible asphyxial status in a newborn due to neonatal form of carnitine palmitoyltransferase II deficiency. ( 18987586 )
2008
20
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. ( 18550408 )
2008
21
Autopsy case of the neonatal form of carnitine palmitoyltransferase-II deficiency triggered by a novel disease-causing mutation del1737C. ( 18577113 )
2008
22
Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency. ( 16996287 )
2006
23
Anesthetic management of a parturient with carnitine palmitoyltransferase II deficiency. ( 16636033 )
2006
24
Quantitation of long-chain acylcarnitines by HPLC/fluorescence detection: application to plasma and tissue specimens from patients with carnitine palmitoyltransferase-II deficiency. ( 15653102 )
2005
25
Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects. ( 15642848 )
2005
26
Carnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF. ( 15754283 )
2005
27
Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: clinical, biochemical, and genetic features of adult-onset cases. ( 15776096 )
2005
28
Carnitine palmitoyltransferase II deficiency: molecular and biochemical analysis of 32 patients. ( 12707442 )
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
Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. ( 14615409 )
2003
32
A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency. ( 12809643 )
2003
33
Lethal neonatal carnitine palmitoyltransferase II deficiency: an unusual presentation of a rare disorder. ( 12638078 )
2003
34
[Carnitine palmitoyltransferase II deficiency]. ( 12013980 )
2002
35
Exercise tolerance in carnitine palmitoyltransferase II deficiency with IV and oral glucose. ( 12370460 )
2002
36
Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations. ( 12410208 )
2002
37
Phenotypic variability among first-degree relatives with carnitine palmitoyltransferase II deficiency. ( 12362414 )
2002
38
A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency. ( 11855939 )
2002
39
Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry. ( 11999976 )
2002
40
&amp;quot;Adult&amp;quot; form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child. ( 11585077 )
2001
41
Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry. ( 11389301 )
2001
42
Antenatal presentation of carnitine palmitoyltransferase II deficiency. ( 11477613 )
2001
43
The diagnosis of carnitine palmitoyltransferase II deficiency is now possible in small skeletal muscle biopsies. ( 10896292 )
2000
44
Muscular carnitine palmitoyltransferase II deficiency in infancy. ( 10738923 )
2000
45
Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency. ( 10862092 )
2000
46
Biochemical and molecular correlations in carnitine palmitoyltransferase II deficiency. ( 10398218 )
1999
47
Rapid, cost-effective gene mutation screening for carnitine palmitoyltransferase II deficiency using whole blood on filter paper. ( 10545085 )
1999
48
Fatal carnitine palmitoyltransferase II deficiency in a newborn: new phenotypic features. ( 9924637 )
1999
49
Novel mutations associated with carnitine palmitoyltransferase II deficiency. ( 10090476 )
1999
50
Genetics of carnitine palmitoyltransferase II deficiencies. ( 10709661 )
1999

Variations for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

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

75
# 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 214)
# 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.1883A> C (p.Tyr628Ser) single nucleotide variant Pathogenic rs28936673 GRCh37 Chromosome 1, 53679173: 53679173
8 CPT2 NM_000098.2(CPT2): c.1883A> C (p.Tyr628Ser) single nucleotide variant Pathogenic rs28936673 GRCh38 Chromosome 1, 53213501: 53213501
9 CPT2 NM_000098.2(CPT2): c.520G> A (p.Glu174Lys) single nucleotide variant Pathogenic rs28936674 GRCh37 Chromosome 1, 53675866: 53675866
10 CPT2 NM_000098.2(CPT2): c.520G> A (p.Glu174Lys) single nucleotide variant Pathogenic rs28936674 GRCh38 Chromosome 1, 53210194: 53210194
11 CPT2 NM_000098.2(CPT2): c.1148T> A (p.Phe383Tyr) single nucleotide variant Likely pathogenic rs74315295 GRCh37 Chromosome 1, 53676494: 53676494
12 CPT2 NM_000098.2(CPT2): c.1148T> A (p.Phe383Tyr) single nucleotide variant Likely pathogenic rs74315295 GRCh38 Chromosome 1, 53210822: 53210822
13 CPT2 NM_000098.2(CPT2): c.1507C> T (p.Arg503Cys) single nucleotide variant Pathogenic rs74315296 GRCh37 Chromosome 1, 53676853: 53676853
14 CPT2 NM_000098.2(CPT2): c.1507C> T (p.Arg503Cys) single nucleotide variant Pathogenic rs74315296 GRCh38 Chromosome 1, 53211181: 53211181
15 CPT2 NM_000098.2(CPT2): c.359A> G (p.Tyr120Cys) single nucleotide variant Likely pathogenic rs121918528 GRCh37 Chromosome 1, 53675705: 53675705
16 CPT2 NM_000098.2(CPT2): c.359A> G (p.Tyr120Cys) single nucleotide variant Likely pathogenic rs121918528 GRCh38 Chromosome 1, 53210033: 53210033
17 CPT2 NM_000098.2(CPT2): c.1239_1240delGA (p.Lys414Thrfs) deletion Pathogenic rs397509431 GRCh37 Chromosome 1, 53676585: 53676586
18 CPT2 NM_000098.2(CPT2): c.1239_1240delGA (p.Lys414Thrfs) deletion Pathogenic rs397509431 GRCh38 Chromosome 1, 53210913: 53210914
19 CPT2 NM_000098.2(CPT2): c.641T> C (p.Met214Thr) single nucleotide variant Pathogenic rs515726174 GRCh37 Chromosome 1, 53675987: 53675987
20 CPT2 NM_000098.2(CPT2): c.641T> C (p.Met214Thr) single nucleotide variant Pathogenic rs515726174 GRCh38 Chromosome 1, 53210315: 53210315
21 CPT2 NM_000098.2(CPT2): c.983A> G (p.Asp328Gly) single nucleotide variant Pathogenic rs515726175 GRCh37 Chromosome 1, 53676329: 53676329
22 CPT2 NM_000098.2(CPT2): c.983A> G (p.Asp328Gly) single nucleotide variant Pathogenic rs515726175 GRCh38 Chromosome 1, 53210657: 53210657
23 CPT2 NM_000098.2(CPT2): c.1145G> A (p.Arg382Lys) single nucleotide variant Pathogenic rs515726176 GRCh37 Chromosome 1, 53676491: 53676491
24 CPT2 NM_000098.2(CPT2): c.1145G> A (p.Arg382Lys) single nucleotide variant Pathogenic rs515726176 GRCh38 Chromosome 1, 53210819: 53210819
25 CPT2 NM_000098.2(CPT2): c.452G> A (p.Arg151Gln) single nucleotide variant Likely pathogenic rs515726177 GRCh37 Chromosome 1, 53675798: 53675798
26 CPT2 NM_000098.2(CPT2): c.452G> A (p.Arg151Gln) single nucleotide variant Likely pathogenic rs515726177 GRCh38 Chromosome 1, 53210126: 53210126
27 CPT2 NM_000098.2(CPT2): c.1737delC (p.Tyr579Terfs) deletion Pathogenic rs515726178 GRCh37 Chromosome 1, 53679027: 53679027
28 CPT2 NM_000098.2(CPT2): c.1737delC (p.Tyr579Terfs) deletion Pathogenic rs515726178 GRCh38 Chromosome 1, 53213355: 53213355
29 CPT2 NM_000098.2(CPT2): c.1923_1935delGAAGGCCTTAGAA (p.Lys642Thrfs) deletion Pathogenic rs515726179 GRCh37 Chromosome 1, 53679213: 53679225
30 CPT2 NM_000098.2(CPT2): c.1923_1935delGAAGGCCTTAGAA (p.Lys642Thrfs) deletion Pathogenic rs515726179 GRCh38 Chromosome 1, 53213541: 53213553
31 CPT2 NM_000098.2(CPT2): c.886C> T (p.Arg296Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727503887 GRCh37 Chromosome 1, 53676232: 53676232
32 CPT2 NM_000098.2(CPT2): c.886C> T (p.Arg296Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727503887 GRCh38 Chromosome 1, 53210560: 53210560
33 CPT2 NM_000098.2(CPT2): c.1634A> C (p.Glu545Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs17848485 GRCh37 Chromosome 1, 53676980: 53676980
34 CPT2 NM_000098.2(CPT2): c.1634A> C (p.Glu545Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs17848485 GRCh38 Chromosome 1, 53211308: 53211308
35 CPT2 NM_000098.2(CPT2): c.38delG (p.Gly13Alafs) deletion Likely pathogenic rs786204647 GRCh37 Chromosome 1, 53662653: 53662653
36 CPT2 NM_000098.2(CPT2): c.38delG (p.Gly13Alafs) deletion Likely pathogenic rs786204647 GRCh38 Chromosome 1, 53196981: 53196981
37 CPT2 NM_000098.2(CPT2): c.1348A> T (p.Arg450Ter) single nucleotide variant Likely pathogenic rs755395180 GRCh37 Chromosome 1, 53676694: 53676694
38 CPT2 NM_000098.2(CPT2): c.1348A> T (p.Arg450Ter) single nucleotide variant Likely pathogenic rs755395180 GRCh38 Chromosome 1, 53211022: 53211022
39 CPT2 NM_000098.2(CPT2): c.1369A> T (p.Lys457Ter) single nucleotide variant Likely pathogenic rs756931329 GRCh38 Chromosome 1, 53211043: 53211043
40 CPT2 NM_000098.2(CPT2): c.1369A> T (p.Lys457Ter) single nucleotide variant Likely pathogenic rs756931329 GRCh37 Chromosome 1, 53676715: 53676715
41 CPT2 NM_000098.2(CPT2): c.511C> T (p.Leu171=) single nucleotide variant Benign/Likely benign rs2229292 GRCh37 Chromosome 1, 53675857: 53675857
42 CPT2 NM_000098.2(CPT2): c.511C> T (p.Leu171=) single nucleotide variant Benign/Likely benign rs2229292 GRCh38 Chromosome 1, 53210185: 53210185
43 CPT2 NM_000098.2(CPT2): c.353A> G (p.Asp118Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs148035648 GRCh37 Chromosome 1, 53675699: 53675699
44 CPT2 NM_000098.2(CPT2): c.353A> G (p.Asp118Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs148035648 GRCh38 Chromosome 1, 53210027: 53210027
45 CPT2 NM_000098.2(CPT2): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201065226 GRCh37 Chromosome 1, 53675716: 53675716
46 CPT2 NM_000098.2(CPT2): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201065226 GRCh38 Chromosome 1, 53210044: 53210044
47 CPT2 NM_000098.2(CPT2): c.1048C> T (p.Arg350Cys) single nucleotide variant Uncertain significance rs151003641 GRCh37 Chromosome 1, 53676394: 53676394
48 CPT2 NM_000098.2(CPT2): c.1048C> T (p.Arg350Cys) single nucleotide variant Uncertain significance rs151003641 GRCh38 Chromosome 1, 53210722: 53210722
49 CPT2 NM_000098.2(CPT2): c.1336G> A (p.Val446Ile) single nucleotide variant Uncertain significance rs555126720 GRCh37 Chromosome 1, 53676682: 53676682
50 CPT2 NM_000098.2(CPT2): c.1336G> A (p.Val446Ile) single nucleotide variant Uncertain significance rs555126720 GRCh38 Chromosome 1, 53211010: 53211010

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:

37
# 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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 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 HADHB
4
Show member pathways
11.94 CPT1A CPT1B CPT2 CRAT
5 11.48 ACADL CPT1A CPT1B CPT2
6
Show member pathways
11.45 ACADL ACADVL HADHB
7
Show member pathways
11.4 ACADL ACADVL CPT1A CPT1B CPT2 HADHB
8 11.39 CPT1A CPT1B
9
Show member pathways
11.36 CPT1A CPT1B
10
Show member pathways
11.25 ACADL HADHB
11 11.25 ACADVL CPT1A CPT1B
12 11.23 CPT1A CPT1B
13
Show member pathways
10.95 ACADL ACADVL CPT1A CPT1B CPT2 CRAT
14 10.91 CPT1A CPT2
15 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 outer membrane GO:0005741 9.5 CPT1A CPT1B HADHB
2 mitochondrial inner membrane GO:0005743 9.5 ACADVL CPT1A CPT2 CRAT ETFDH HADHB
3 mitochondrial matrix GO:0005759 9.46 ACADL ACADVL CS ETFDH
4 mitochondrial membrane GO:0031966 9.43 ACADL ACADVL ETFDH
5 mitochondrial nucleoid GO:0042645 9.37 ACADVL HADHB
6 mitochondrion GO:0005739 9.32 ACADL ACADVL CPT1A CPT1B CPT2 CRAT
7 membrane GO:0016020 10.06 ACADVL CPT1A CPT1B CPT2 CRAT CS

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

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

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 9.88 CPT1A CPT1B CPT2 CRAT CS HADHB
2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.43 ACADL ACADVL
3 flavin adenine dinucleotide binding GO:0050660 9.43 ACADL ACADVL ETFDH
4 fatty-acyl-CoA binding GO:0000062 9.37 ACADL ACADVL
5 transferase activity, transferring acyl groups GO:0016746 9.35 CPT1A CPT1B CPT2 CRAT HADHB
6 acyl-CoA dehydrogenase activity GO:0003995 9.32 ACADL ACADVL
7 long-chain-acyl-CoA dehydrogenase activity GO:0004466 9.16 ACADL ACADVL
8 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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