CPT2DI
MCID: CRN296
MIFTS: 65

Carnitine Palmitoyltransferase Ii Deficiency, Infantile (CPT2DI)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

MalaCards integrated aliases for Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

Name: Carnitine Palmitoyltransferase Ii Deficiency, Infantile 57 71
Carnitine Palmitoyltransferase Ii Deficiency 11 24 42 58 75 28 53 5 14
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form 58 28 5
Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset 5 38 71
Carnitine Palmitoyltransferase Ii Deficiency with Hypoketotic Hypoglycemia 57 73
Carnitine Palmitoyltransferase Ii Deficiency, Hepatocardiomuscular 57 73
Carnitine Palmitoyltransferase Deficiency Type 2 19 58
Carnitine Palmitoyl Transferase 2 Deficiency 43 71
Carnitine Palmitoyltransferase 2 Deficiency 19 42
Cpt Ii Deficiency, Infantile 57 38
Cpt Ii Deficiency, Hepatic 57 73
Cpt2 Deficiency, Infantile 57 73
Cpt Ii Deficiency 24 42
Cpt2 19 58
Carnitine Palmitoyl Transferase Deficiency Type 2, Hepatocardiomuscular Form 58
Carnitine Palmitoyl Transferase Ii Deficiency, Hepatocardiomuscular Form 58
Carnitine Palmitoyl Transferase Deficiency Type 2, Severe Infantile Form 58
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 71
Lethal Neonatal Carnitine Palmitoyltransferase Ii Deficiency 11
Late-Onset Carnitine Palmitoyltransferase Ii Deficiency 11
Infantile Carnitine Palmitoyltransferase Ii Deficiency 11
Carnitine Palmitoyltransferase 2 Deficiency, Infantile 73
Carnitine Palmitoyltransferase Ii Deficiency 19
Cptii, Hepatocardiomuscular Form 58
Cpt Deficiency, Hepatic, Type Ii 12
Cpt2, Hepatocardiomuscular Form 58
Cptii, Severe Infantile Form 58
Cpt2, Severe Infantile Form 58
Cpt2 Deficiency 42
Cpt-Ii 11
Cpt2di 73
Cptii 58

Characteristics:


Inheritance:

Carnitine Palmitoyltransferase Ii Deficiency, Infantile: Autosomal recessive 57
Carnitine Palmitoyltransferase Ii Deficiency: Autosomal recessive 58
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form: Autosomal recessive 58

Prevelance:

Carnitine Palmitoyltransferase Ii Deficiency: 1-9/1000000 (United States) 1-9/100000 (Europe) 58
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form: <1/1000000 (Worldwide) 58

Age Of Onset:

Carnitine Palmitoyltransferase Ii Deficiency: All ages 58
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy (3 months on)
precipitated by febrile illness and fasting
see also lethal neonatal and adult forms


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

MedlinePlus Genetics: 42 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.The lethal neonatal form of CPT II deficiency becomes apparent soon after birth. Infants with this form of the disorder develop respiratory failure, seizures, liver failure, a weakened heart muscle (cardiomyopathy), and an irregular heart beat (arrhythmia). Affected individuals also have low blood sugar (hypoglycemia) and a low level of ketones, which are produced during the breakdown of fats and used for energy. Together these signs are called hypoketotic hypoglycemia. In many cases, the brain and kidneys are also structurally abnormal. Infants with the lethal neonatal form of CPT II deficiency usually live for a few days to a few months.The severe infantile hepatocardiomuscular form of CPT II deficiency affects the liver, heart, and muscles. Signs and symptoms usually appear within the first year of life. This form involves recurring episodes of hypoketotic hypoglycemia, seizures, an enlarged liver (hepatomegaly), cardiomyopathy, and arrhythmia. Problems related to this form of CPT II deficiency can be triggered by periods of fasting or by illnesses such as viral infections. Individuals with the severe infantile hepatocardiomuscular form of CPT II deficiency are at risk for liver failure, nervous system damage, coma, and sudden death.The myopathic form is the least severe type of CPT II deficiency. This form is characterized by recurrent episodes of muscle pain (myalgia) and weakness and is associated with the breakdown of muscle tissue (rhabdomyolysis). The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown. This protein can also damage the kidneys, in some cases leading to life-threatening kidney failure. Episodes of myalgia and rhabdomyolysis may be triggered by exercise, stress, exposure to extreme temperatures, infections, or fasting. The first episode usually occurs during childhood or adolescence. Most people with the myopathic form of CPT II deficiency have no signs or symptoms of the disorder between episodes.

MalaCards based summary: Carnitine Palmitoyltransferase Ii Deficiency, Infantile, also known as carnitine palmitoyltransferase ii deficiency, is related to isolated elevated serum creatine phosphokinase levels and myoglobinuria, recurrent, and has symptoms including vomiting, myalgia and apnea. An important gene associated with Carnitine Palmitoyltransferase Ii Deficiency, Infantile is CPT2 (Carnitine Palmitoyltransferase 2), and among its related pathways/superpathways are Metabolism 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 muscle weakness and reduced carnitine o-palmitoyltransferase level

GARD: 19 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). Genetic changes in the CPT2 gene cause CPT2 deficiency. It is inherited in an autosomal recessive pattern.

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) (Updated 08-Dec-2022)

Orphanet 58 Carnitine palmitoyltransferase ii deficiency: Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms).

Carnitine palmitoyl transferase ii deficiency, severe infantile form: The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.

UniProtKB/Swiss-Prot: 73 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.

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

Wikipedia: 75 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 top 50) (show all 150)
# Related Disease Score Top Affiliating Genes
1 isolated elevated serum creatine phosphokinase levels 31.0 ETFB CPT2 AMPD1 ACADVL
2 myoglobinuria, recurrent 30.9 CPT2 ACADVL
3 myoglobinuria 30.8 HADH CPT2 AMPD1 ACADVL
4 propionic acidemia 30.7 SLC22A5 HADHA ETFDH CPT2 ACADVL ACADS
5 isovaleric acidemia 30.4 HADHA ETFDH ETFA CPT2 ACADVL ACADS
6 methylmalonic acidemia 30.3 SLC22A5 HADHA ETFDH CPT2 ACADVL ACADS
7 malignant hyperthermia 30.2 CPT2 AMPD1 ACADS
8 lipid metabolism disorder 30.2 CPT1A ACADVL ACADM
9 3-methylcrotonyl-coa carboxylase deficiency 30.1 SLC25A20 SLC22A5 HADHA ETFA CPT2 ACADVL
10 abdominal obesity-metabolic syndrome 1 30.0 HADHA ETFDH ACADM
11 alpha-methylacetoacetic aciduria 29.9 SLC25A20 HADHA HADH ETFDH CPT2 ACADVL
12 glycogen storage disease v 29.8 CPT2 AMPD1
13 acyl-coa dehydrogenase, short-chain, deficiency of 29.7 SLC22A5 HADHA HADH ETFDH ETFA CPT2
14 hypoglycemia 29.5 SLC25A20 SLC22A5 HADHA HADH CPT2 CPT1A
15 reye syndrome 29.1 SLC22A5 HADHA ETFDH CPT2 ACADVL ACADM
16 mitochondrial trifunctional protein deficiency 29.0 SLC25A20 SLC22A5 HADHA HADH ETFDH ETFB
17 carnitine deficiency, systemic primary 29.0 SLC25A20 SLC22A5 HADHA HADH ETFDH ETFB
18 acyl-coa dehydrogenase, medium-chain, deficiency of 29.0 SLC25A20 SLC22A5 HADHA HADH ETFDH ETFB
19 myopathy 28.9 SLC22A5 HADHA HADH ETFDH ETFB ETFA
20 carnitine-acylcarnitine translocase deficiency 28.5 SLC25A20 SLC22A5 HADHA ETFDH ETFB CPT2
21 multiple acyl-coa dehydrogenase deficiency 28.5 SLC25A20 SLC22A5 HADHA HADH ETFDH ETFB
22 carnitine palmitoyltransferase i deficiency 28.2 SLC25A20 SLC22A5 HADHA HADH CPT2 CPT1A
23 acyl-coa dehydrogenase, very long-chain, deficiency of 28.0 SLC25A20 SLC22A5 HADHA HADH ETFDH ETFB
24 carnitine palmitoyltransferase ii deficiency, lethal neonatal 12.0
25 carnitine palmitoyltransferase ii deficiency, myopathic, stress-induced 12.0
26 dilated cardiomyopathy 11.1
27 type 2 diabetes mellitus 11.1
28 congestive heart failure 11.1
29 body mass index quantitative trait locus 11 11.0
30 abetalipoproteinemia 11.0
31 glycogen storage disease 11.0
32 glycogen storage disease iv 10.8
33 chanarin-dorfman syndrome 10.8
34 immunodeficiency 34 10.8
35 bartter syndrome, type 4a, neonatal, with sensorineural deafness 10.8
36 congenital nervous system abnormality 10.8
37 acute hemorrhagic encephalitis 10.8
38 arthritis 10.8
39 nervous system disease 10.8
40 zellweger syndrome 10.8
41 acute kidney failure 10.5
42 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.5
43 renal dysplasia, cystic 10.3
44 hydrocephalus 10.3
45 respiratory failure 10.3
46 hypotonia 10.3
47 renal dysplasia 10.3
48 hypercholesterolemia, familial, 1 10.1
49 dandy-walker syndrome 10.1
50 hyperlipoproteinemia, type i 10.1

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:

58 30 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 58 30 Hallmark (90%) Very frequent (99-80%)
Frequent (79-30%)
HP:0001324
2 reduced carnitine o-palmitoyltransferase level 30 Hallmark (90%) HP:0012380
3 myopathy 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0003198
4 elevated circulating creatine kinase concentration 58 30 Very rare (1%) Frequent (79-30%)
Frequent (79-30%)
HP:0003236
5 hyperlipidemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0003077
6 headache 58 30 Occasional (7.5%) Occasional (29-5%)
Frequent (79-30%)
HP:0002315
7 intermittent painful muscle spasms 58 30 Occasional (7.5%) Occasional (29-5%)
Frequent (79-30%)
HP:0011964
8 episodic abdominal pain 58 30 Occasional (7.5%) Occasional (29-5%)
Frequent (79-30%)
HP:0002574
9 exercise-induced myalgia 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0003738
10 exercise intolerance 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0003546
11 myoglobinuria 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0002913
12 exercise-induced muscle cramps 58 30 Occasional (7.5%) Occasional (29-5%)
Frequent (79-30%)
HP:0003710
13 decreased plasma total carnitine 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0011936
14 cold-induced muscle cramps 58 30 Occasional (7.5%) Occasional (29-5%)
Frequent (79-30%)
HP:0003449
15 red-brown urine 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0040320
16 decreased plasma free carnitine 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0008315
17 elevated circulating acylcarnitine concentration 30 Frequent (33%) HP:0045045
18 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0001250
19 hepatomegaly 58 30 Very rare (1%) Occasional (29-5%)
Occasional (29-5%)
HP:0002240
20 hepatic steatosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001397
21 elevated hepatic transaminase 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002910
22 arrhythmia 58 30 Very rare (1%) Very rare (<4-1%)
Occasional (29-5%)
HP:0011675
23 dandy-walker malformation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001305
24 hepatic failure 58 30 Very rare (1%) Very rare (<4-1%)
Occasional (29-5%)
HP:0001399
25 cardiomyopathy 58 30 Very rare (1%) Very rare (<4-1%)
Occasional (29-5%)
HP:0001638
26 tubulointerstitial nephritis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001970
27 stage 5 chronic kidney disease 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003774
28 hypoketotic hypoglycemia 58 30 Very rare (1%) Very rare (<4-1%)
Occasional (29-5%)
HP:0001985
29 ventricular hypertrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001714
30 rhabdomyolysis 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0003201
31 hypoglycemic encephalopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006929
32 renal tubular epithelial necrosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008682
33 agenesis of corpus callosum 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001274
34 cerebral calcification 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002514
35 hydrocephalus 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000238
36 neonatal respiratory distress 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002643
37 polycystic kidney dysplasia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000113
38 polymicrogyria 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002126
39 pachygyria 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001302
40 coma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001259
41 cerebellar vermis hypoplasia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001320
42 cystic renal dysplasia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000800
43 hepatic calcification 58 30 Very rare (1%) Very rare (<4-1%)
HP:0006559
44 cardiomegaly 30 Very rare (1%) HP:0001640
45 ventricular tachycardia 30 Very rare (1%) HP:0004756
46 respiratory arrest 30 Very rare (1%) HP:0005943
47 increased circulating lactate dehydrogenase concentration 30 Very rare (1%) HP:0025435
48 abnormal basal ganglia morphology 30 Very rare (1%) HP:0002134
49 vomiting 30 HP:0002013
50 dilated cardiomyopathy 30 HP:0001644

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Abdomen Liver:
hepatomegaly
macrovesicular steatosis

Cardiovascular Heart:
cardiomegaly
dilated cardiomyopathy

Neurologic Central Nervous System:
lethargy
seizures

Respiratory:
respiratory arrest

Abdomen Gastrointestinal:
vomiting

Laboratory Abnormalities:
hyperammonemia
increased creatine kinase
decreased carnitine palmitoyltransferase ii (cpt2) activity
decreased levels of cpt2 protein
decreased palmitate oxidation
more
Metabolic Features:
hypoketotic hypoglycemia

Clinical features from OMIM®:

600649 (Updated 08-Dec-2022)

UMLS symptoms related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:


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

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10 ACADM ACADS ACADVL AMPD1 CFAP44 COQ2
2 no effect GR00402-S-2 10 AMPD1 CPT1A ETFA ETFDH HADH HADHA
3 Decreased POU5F1-GFP protein expression GR00184-A-1 9.46 ACADS CPT2 ETFDH HADHA
4 Increased hepcidin::fluc mRNA expression GR00253-A 8.96 HADH HADHA

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 ACADM ACADS ACADVL AMPD1 CFAP44 CPT1A
2 liver/biliary system MP:0005370 9.63 ACADM ACADS ACADVL HADHA SLC22A5 SLC25A20
3 mortality/aging MP:0010768 9.36 ACADM ACADS ACADVL AMPD1 COQ2 CPT1A

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 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved, Investigational Phase 3 41859-67-0 39042
2 Antimetabolites Phase 3
3 Hypolipidemic Agents Phase 3
4 Lipid Regulating Agents Phase 3
5
Glycerin Approved, Investigational Phase 2 56-81-5 753
6
(3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium Experimental Phase 2 461-06-3
7
Heparin, bovine Approved, Investigational, Withdrawn 9005-49-6 22833565 9812414 772
8 Parenteral Nutrition Solutions
9 Fibrinolytic Agents
10 Insulin, Globin Zinc
11
Insulin
12 Fat Emulsions, Intravenous
13 Soybean oil, phospholipid emulsion
14 Soy Bean
15 Anticoagulants
16 Calcium heparin
17 Pharmaceutical Solutions
18 Protective Agents
19 Pyruvate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Trial on the Effect of Bezafibrate in the Muscular Form of Carnitine Palmitoyltransferase 2 Deficiency Unknown status NCT00336167 Phase 3 bezafibrate (drug)
2 Evaluation of the Effect of Bezafibrate on Muscle Metabolism During Exercise in Patients With CPTII and VLCAD Deficiency Completed NCT00983788 Phase 2 Bezafibrate
3 Fatty Acid Oxidation and Body Weight Regulation in Long-chain Fatty Acid Oxidation Disorders. Completed NCT01494051 Phase 1, Phase 2
4 An Open-label Phase 2 Study to Assess Safety and Clinical Effects of UX007 in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Completed NCT01886378 Phase 2 UX007
5 An Open-label Long-Term Safety and Efficacy Extension Study in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Previously Enrolled in UX007 or Triheptanoin Studies Completed NCT02214160 Phase 2 UX007
6 Phase 2 Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation Disorders Completed NCT01379625 Phase 2 Triheptanoin
7 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Unknown status NCT02635269
8 Role of Fatty Acid Oxidation Defects in Insulin Sensitivity Completed NCT02517307 Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
9 Dietary Therapy for Inherited Disorders of Energy Metabolism No longer available NCT01461304 triheptanoin

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 28 CPT2
2 Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form 28 CPT2

Anatomical Context for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

Organs/tissues related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

MalaCards : Liver, Heart, Kidney, Brain, Skeletal Muscle, Cardiac Myocytes, Breast

Publications for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

Articles related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile:

(show top 50) (show all 869)
# Title Authors PMID Year
1
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. 53 62 24 57 5
18550408 2008
2
Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations. 53 62 24 57 5
12410208 2002
3
Two novel gene mutations (Glu174-->Lys, Phe383-->Tyr) causing the "hepatic" form of carnitine palmitoyltransferase II deficiency. 53 62 57 5
8682496 1996
4
Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression. 53 62 57 5
8651281 1996
5
Molecular characterization of inherited carnitine palmitoyltransferase II deficiency. 53 62 57 5
1528846 1992
6
Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies. 53 62 57 5
1999498 1991
7
Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening. 62 57 5
18925671 2008
8
Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy. 53 62 24 5
18645163 2008
9
Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency. 53 62 24 5
16996287 2006
10
Carnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF. 53 62 24 5
15754283 2005
11
Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. 53 62 24 5
14615409 2003
12
Carnitine palmitoyltransferase II deficiency: molecular and biochemical analysis of 32 patients. 53 62 24 5
12707442 2003
13
Antenatal presentation of carnitine palmitoyltransferase II deficiency. 53 62 24 5
11477613 2001
14
Novel mutations associated with carnitine palmitoyltransferase II deficiency. 53 62 24 5
10090476 1999
15
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes. 53 62 24 5
9600456 1998
16
Diagnostic pitfall in antenatal manifestations of CPT II deficiency. 62 24 5
25827434 2016
17
Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients. 62 24 5
24398345 2014
18
Expanding mutation spectrum in CPT II gene: identification of four novel mutations. 62 24 5
23475205 2013
19
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency. 62 24 5
21913903 2012
20
Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency. 62 24 5
20810031 2011
21
Post-mortem MRI reveals CPT2 deficiency after sudden infant death. 62 24 5
20661589 2010
22
Autopsy case of the neonatal form of carnitine palmitoyltransferase-II deficiency triggered by a novel disease-causing mutation del1737C. 62 24 5
18577113 2008
23
Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency. 62 24 5
18363739 2008
24
Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency. 62 24 5
17651973 2007
25
Crystal structure of rat carnitine palmitoyltransferase II (CPT-II). 62 24 5
16781677 2006
26
Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects. 62 24 5
15642848 2005
27
Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations. 62 24 5
15622536 2005
28
Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. 62 24 5
15363638 2004
29
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency. 62 24 5
12673791 2003
30
Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency. 62 24 5
14605500 2003
31
A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency. 62 24 5
12560872 2003
32
A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene. 62 24 5
10873395 2000
33
Malignant hyperthermia-like syndrome and carnitine palmitoyltransferase II deficiency with heterozygous R503C mutation. 53 62 5
19762733 2009
34
Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: clinical, biochemical, and genetic features of adult-onset cases. 53 62 5
15776096 2005
35
A novel mutation identified in carnitine palmitoyltransferase II deficiency. 53 62 5
9562964 1998
36
Carnitine palmitoyltransferase II deficiency: diagnosis by molecular analysis of blood. 53 62 5
9309694 1997
37
Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations. 53 62 5
7711730 1995
38
Clinical outcomes in a series of 18 patients with long chain fatty acids oxidation disorders treated with triheptanoin for a median duration of 22 months. 62 57
33610471 2021
39
Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening. 62 5
32489884 2020
40
Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach. 62 5
32295037 2020
41
Phenotype of carnitine palmitoyltransferase II (CPT II) deficiency: A questionnaire-based survey. 62 5
30455135 2019
42
Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency. 62 5
29478820 2018
43
Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity. 62 5
28801073 2017
44
A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency. 62 5
28529889 2017
45
A newborn case with carnitine palmitoyltransferase II deficiency initially judged as unaffected by acylcarnitine analysis soon after birth. 62 5
28516040 2017
46
[CPT2 gene mutation analysis and prenatal diagnosis in a family with carnitine palmitoyltransferase II deficiency]. 62 5
27974123 2016
47
Stabilization of the thermolabile variant S113L of carnitine palmitoyltransferase II. 62 5
27123472 2016
48
First Japanese Case of Carnitine Palmitoyltransferase II Deficiency with the Homozygous Point Mutation S113L. 62 5
27629963 2016
49
Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS. 62 5
26537576 2016
50
Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders. 62 5
28649538 2015

Variations for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

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

5 (show top 50) (show all 660)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CPT2 NM_000098.3(CPT2):c.1657G>A (p.Asp553Asn) SNV Pathogenic
Uncertain Significance
8955 rs28936376 GRCh37: 1:53678947-53678947
GRCh38: 1:53213275-53213275
2 CPT2 NM_000098.3(CPT2):c.1360G>T (p.Glu454Ter) SNV Pathogenic
Pathogenic
8966 rs74315299 GRCh37: 1:53676706-53676706
GRCh38: 1:53211034-53211034
3 CPT2 NM_000098.3(CPT2):c.638A>G (p.Asp213Gly) SNV Pathogenic
8967 rs74315300 GRCh37: 1:53675984-53675984
GRCh38: 1:53210312-53210312
4 CPT2 NM_000098.3(CPT2):c.1767_1777delinsT (p.Ser590fs) INDEL Pathogenic
529858 rs1553169975 GRCh37: 1:53679057-53679067
GRCh38: 1:53213385-53213395
5 CPT2 NM_000098.3(CPT2):c.1345delinsTA (p.Gln449Ter) INDEL Pathogenic
Likely Pathogenic
Likely Pathogenic
371775 rs1057517525 GRCh37: 1:53676691-53676691
GRCh38: 1:53211019-53211019
6 CPT2 NM_000098.3(CPT2):c.1569_1570del (p.His523fs) MICROSAT Pathogenic
Pathogenic/Likely Pathogenic
633182 rs1572385947 GRCh37: 1:53676913-53676914
GRCh38: 1:53211241-53211242
7 CPT2 NM_000098.3(CPT2):c.1444_1645+364del DEL Pathogenic
840887 rs1645424505 GRCh37: 1:53676790-53677355
GRCh38: 1:53211118-53211683
8 CPT2 NM_000098.3(CPT2):c.1152_1153insSVAelement INSERT Pathogenic
870227 GRCh37: 1:53676498-53676499
GRCh38: 1:53210826-53210827
9 CPT2 NC_000001.10:g.(?_53676790)_53677355del DEL Pathogenic
1074794 GRCh37:
GRCh38:
10 CPT2 NC_000001.10:g.(?_53662606)_(53668111_?)del DEL Pathogenic
1076747 GRCh37: 1:53662606-53668111
GRCh38:
11 CPT2 NM_000098.3(CPT2):c.1767del (p.Ser590fs) DEL Pathogenic
Likely Pathogenic
557080 rs1553169973 GRCh37: 1:53679057-53679057
GRCh38: 1:53213385-53213385
12 CPT2 NM_000098.3(CPT2):c.75del (p.Ser26fs) DEL Pathogenic
Likely Pathogenic
Likely Pathogenic
371730 rs1057517493 GRCh37: 1:53662690-53662690
GRCh38: 1:53197018-53197018
13 CPT2 NM_000098.3(CPT2):c.670del (p.Thr224fs) DEL Pathogenic
Likely Pathogenic
551107 rs762366252 GRCh37: 1:53676015-53676015
GRCh38: 1:53210343-53210343
14 CPT2 NM_000098.3(CPT2):c.347G>A (p.Trp116Ter) SNV Pathogenic
1357197 rs1645411052 GRCh37: 1:53675693-53675693
GRCh38: 1:53210021-53210021
15 CPT2 NM_000098.3(CPT2):c.747_748insTT (p.Asn250fs) INSERT Pathogenic
1397459 GRCh37: 1:53676093-53676094
GRCh38: 1:53210421-53210422
16 CPT2 NM_000098.3(CPT2):c.989del (p.Phe330fs) DEL Pathogenic
1368422 GRCh37: 1:53676334-53676334
GRCh38: 1:53210662-53210662
17 CPT2 NM_000098.3(CPT2):c.320_321del (p.Lys107fs) DEL Pathogenic
1373083 GRCh37: 1:53668080-53668081
GRCh38: 1:53202408-53202409
18 CPT2 NM_000098.3(CPT2):c.451C>T (p.Arg151Trp) SNV Pathogenic
1358726 rs200080591 GRCh37: 1:53675797-53675797
GRCh38: 1:53210125-53210125
19 CPT2 NM_000098.3(CPT2):c.1293_1296del (p.Glu432fs) DEL Pathogenic
1400802 GRCh37: 1:53676637-53676640
GRCh38: 1:53210965-53210968
20 CPT2 NM_000098.3(CPT2):c.721A>T (p.Arg241Ter) SNV Pathogenic
1441122 GRCh37: 1:53676067-53676067
GRCh38: 1:53210395-53210395
21 CPT2 NM_000098.3(CPT2):c.798dup (p.Ser267fs) DUP Pathogenic
1454984 GRCh37: 1:53676140-53676141
GRCh38: 1:53210468-53210469
22 CPT2 NM_000098.3(CPT2):c.135C>G (p.Tyr45Ter) SNV Pathogenic
1367294 GRCh37: 1:53662750-53662750
GRCh38: 1:53197078-53197078
23 CPT2 NM_000098.3(CPT2):c.39_46dup (p.Val16fs) DUP Pathogenic
1458619 GRCh37: 1:53662651-53662652
GRCh38: 1:53196979-53196980
24 CPT2 NM_000098.3(CPT2):c.834dup (p.Asp279fs) DUP Pathogenic
1455279 GRCh37: 1:53676179-53676180
GRCh38: 1:53210507-53210508
25 CPT2 NM_000098.3(CPT2):c.1552_1553del (p.Arg518fs) DEL Pathogenic
1454008 GRCh37: 1:53676898-53676899
GRCh38: 1:53211226-53211227
26 CPT2 NM_000098.3(CPT2):c.1087dup (p.Asp363fs) DUP Pathogenic
1460313 GRCh37: 1:53676431-53676432
GRCh38: 1:53210759-53210760
27 CPT2 NM_000098.3(CPT2):c.213_214del (p.Leu72fs) MICROSAT Pathogenic
1437709 GRCh37: 1:53666447-53666448
GRCh38: 1:53200775-53200776
28 CPT2 NM_000098.3(CPT2):c.238del (p.Thr80fs) DEL Pathogenic
1387016 GRCh37: 1:53667996-53667996
GRCh38: 1:53202324-53202324
29 CPT2 NM_000098.3(CPT2):c.896_906dup (p.Arg303fs) DUP Pathogenic
1460363 GRCh37: 1:53676241-53676242
GRCh38: 1:53210569-53210570
30 CPT2 NM_000098.3(CPT2):c.896G>A (p.Trp299Ter) SNV Pathogenic
862629 rs757881397 GRCh37: 1:53676242-53676242
GRCh38: 1:53210570-53210570
31 CPT2 NM_000098.3(CPT2):c.669_673del (p.Thr224fs) MICROSAT Pathogenic
863777 rs1645414208 GRCh37: 1:53676008-53676012
GRCh38: 1:53210336-53210340
32 CPT2 NM_000098.3(CPT2):c.204del (p.Lys69fs) DEL Pathogenic
863864 rs1645350030 GRCh37: 1:53666442-53666442
GRCh38: 1:53200770-53200770
33 CPT2 NM_000098.3(CPT2):c.836_839del (p.Asp279fs) DEL Pathogenic
945061 rs1645416288 GRCh37: 1:53676179-53676182
GRCh38: 1:53210507-53210510
34 CPT2 NM_000098.3(CPT2):c.808C>T (p.Gln270Ter) SNV Pathogenic
953726 rs1645416037 GRCh37: 1:53676154-53676154
GRCh38: 1:53210482-53210482
35 CPT2 NM_000098.3(CPT2):c.1244_1245del (p.Leu415fs) DEL Pathogenic
955252 rs1645421667 GRCh37: 1:53676589-53676590
GRCh38: 1:53210917-53210918
36 CPT2 NM_000098.3(CPT2):c.585del (p.Pro196fs) DEL Pathogenic
956433 rs1645413342 GRCh37: 1:53675931-53675931
GRCh38: 1:53210259-53210259
37 CPT2 NM_000098.3(CPT2):c.1052G>A (p.Trp351Ter) SNV Pathogenic
962889 rs1645419457 GRCh37: 1:53676398-53676398
GRCh38: 1:53210726-53210726
38 CPT2 NM_000098.3(CPT2):c.164_165del (p.Pro55fs) DEL Pathogenic
1072348 GRCh37: 1:53666401-53666402
GRCh38: 1:53200729-53200730
39 CPT2 NM_000098.3(CPT2):c.1402C>T (p.Gln468Ter) SNV Pathogenic
1073053 GRCh37: 1:53676748-53676748
GRCh38: 1:53211076-53211076
40 CPT2 NM_000098.3(CPT2):c.1394_1403del (p.Ala465fs) DEL Pathogenic
1073732 GRCh37: 1:53676740-53676749
GRCh38: 1:53211068-53211077
41 CPT2 NM_000098.3(CPT2):c.28_29insAGCAAG (p.Trp10Ter) INSERT Pathogenic
1073763 GRCh37: 1:53662643-53662644
GRCh38: 1:53196971-53196972
42 CPT2 NM_000098.3(CPT2):c.603G>A (p.Trp201Ter) SNV Pathogenic
1075002 GRCh37: 1:53675949-53675949
GRCh38: 1:53210277-53210277
43 CPT2 NM_000098.3(CPT2):c.745G>T (p.Gly249Ter) SNV Pathogenic
1076105 GRCh37: 1:53676091-53676091
GRCh38: 1:53210419-53210419
44 CPT2 NM_000098.3(CPT2):c.1339C>T (p.Gln447Ter) SNV Pathogenic
1451403 GRCh37: 1:53676685-53676685
GRCh38: 1:53211013-53211013
45 CPT2 NM_000098.3(CPT2):c.522del (p.Val175fs) DEL Pathogenic
1452037 GRCh37: 1:53675867-53675867
GRCh38: 1:53210195-53210195
46 CPT2 NM_000098.3(CPT2):c.202C>T (p.Gln68Ter) SNV Pathogenic
1322159 GRCh37: 1:53666440-53666440
GRCh38: 1:53200768-53200768
47 CPT2 NM_000098.3(CPT2):c.725_726del (p.His242fs) MICROSAT Pathogenic
529859 rs1238901632 GRCh37: 1:53676069-53676070
GRCh38: 1:53210397-53210398
48 CPT2 NM_000098.3(CPT2):c.98del (p.Gln33fs) DEL Pathogenic
Likely Pathogenic
495549 rs917744011 GRCh37: 1:53662713-53662713
GRCh38: 1:53197041-53197041
49 CPT2 NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) SNV Pathogenic
Pathogenic
Likely Pathogenic
188753 rs756931329 GRCh37: 1:53676715-53676715
GRCh38: 1:53211043-53211043
50 CPT2 NM_000098.3(CPT2):c.1511C>T (p.Pro504Leu) SNV Pathogenic
203663 rs368311455 GRCh37: 1:53676857-53676857
GRCh38: 1:53211185-53211185

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

73
# Symbol AA change Variation ID SNP ID
1 CPT2 p.Tyr628Ser VAR_001398 rs28936673
2 CPT2 p.Arg631Cys VAR_001399 rs74315293

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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.43 ACADM ACADS ACADVL AMPD1 CPT1A CPT2
2
Show member pathways
12.32 SLC25A20 SLC22A5 HADHA HADH CPT2 CPT1A
3 11.85 HADHA CPT1A ACADM
4
Show member pathways
11.69 SLC25A20 CPT2 CPT1A
5
Show member pathways
11.58 HADHA HADH ACADVL ACADS ACADM
6
Show member pathways
11.52 CPT2 CPT1A ACADM
7
Show member pathways
11.18 HADH ACADVL ACADM
8 10.91 CPT2 CPT1A ACADM
9
Show member pathways
10.83 SLC25A20 HADHA HADH CPT2 CPT1A ACADVL
10 10.55 ETFDH ETFA

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 inner membrane GO:0005743 10 SLC25A20 HADHA ETFDH CPT2 COQ2 ACADVL
2 mitochondrial matrix GO:0005759 9.8 ACADM ACADS ACADVL ETFA ETFB ETFDH
3 mitochondrion GO:0005739 9.66 SLC25A20 HADHA HADH ETFDH ETFB ETFA
4 electron transfer flavoprotein complex GO:0045251 9.46 ETFB ETFA
5 obsolete integral component of mitochondrial inner membrane GO:0031305 9.32 ETFDH COQ2

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.91 HADHA HADH CPT2 CPT1A ACADVL ACADS
2 respiratory electron transport chain GO:0022904 9.88 ETFDH ETFB ETFA
3 electron transport chain GO:0022900 9.78 ETFDH ETFB ETFA
4 carnitine transmembrane transport GO:1902603 9.76 SLC25A20 SLC22A5
5 fatty acid metabolic process GO:0006631 9.76 HADHA HADH CPT2 CPT1A ACADVL ACADS
6 amino acid catabolic process GO:0009063 9.73 ETFB ETFA
7 carnitine shuttle GO:0006853 9.73 CPT1A CPT2 SLC25A20
8 fatty acid beta-oxidation GO:0006635 9.73 HADHA HADH CPT2 CPT1A ACADS ACADM
9 carnitine metabolic process GO:0009437 9.72 CPT2 CPT1A ACADM
10 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.4 ETFDH ETFB ETFA ACADVL ACADS ACADM

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

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.88 ETFDH ETFB ETFA
2 fatty-acyl-CoA binding GO:0000062 9.76 HADHA ACADVL
3 NAD+ binding GO:0070403 9.73 HADHA HADH
4 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.67 HADHA HADH
5 acyl-CoA dehydrogenase activity GO:0003995 9.63 ACADM ACADS ACADVL
6 carnitine O-palmitoyltransferase activity GO:0004095 9.62 CPT2 CPT1A
7 oxidoreductase activity GO:0016491 9.61 HADHA HADH ETFDH ETFA ACADVL ACADS
8 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.43 ACADVL ACADS ACADM
9 flavin adenine dinucleotide binding GO:0050660 9.32 ETFDH ETFA ACADVL ACADS ACADM

Sources for Carnitine Palmitoyltransferase Ii Deficiency, Infantile

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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