CPT2
MCID: CRN183
MIFTS: 42

Carnitine Palmitoyltransferase Ii Deficiency (CPT2) malady

Summaries for Carnitine Palmitoyltransferase Ii Deficiency

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42NIH Rare Diseases, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Carnitine palmitoyltransferase 2 (cpt2) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). there are three main types of cpt2 deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form. the neonatal and infantile forms are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia (extremely low levels of ketones (substances produced when fat cells break down in the blood) and low blood sugar), cardiomyopathy, seizures, and early death. the myopathic form is characterized by exercise-induced muscle pain and weakness and occasional myoglobinuria (rust-colored urine indicating breakdown of muscle tissue). mutations in the cpt2 gene cause cpt2 deficiency. it is inherited in an autosomal recessive pattern. treatment is based on avoidance of prolonged fasting and a low-fat and high-carbohydrate diet.   last updated: 5/29/2012

MalaCards: Carnitine Palmitoyltransferase Ii Deficiency, also known as carnitine palmitoyltransferase ii deficiency, is related to malignant hyperthermia and hypoglycemia. An important gene associated with Carnitine Palmitoyltransferase Ii Deficiency is CPT2 (carnitine palmitoyltransferase 2), and among its related pathways are mitochondrial L-carnitine shuttle pathway and Development Leptin signaling via PI3K-dependent pathway. The compounds perhexiline and pristanic acid have been mentioned in the context of this disorder. Affiliated tissues include liver, skeletal muscle and brain.

GeneReviews summary for cpt2

Aliases & Classifications for Carnitine Palmitoyltransferase Ii Deficiency

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19GeneReviews, 21Genetics Home Reference, 44Novoseek, 42NIH Rare Diseases, 20GeneTests, 22GTR, 60UMLS
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Aliases & Descriptions:

carnitine palmitoyltransferase ii deficiency 19 21 44
carnitine palmitoyltransferase ii deficiency 42 20 22
carnitine palmitoyltransferase 2 deficiency 42 21
cpt ii deficiency 19 21
carnitine palmitoyltransferase deficiency type 2 42
carnitine palmitoyl transferase 2 deficiency 60
cpt2 deficiency 21
cpt2 42


Related Diseases for Carnitine Palmitoyltransferase Ii Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Carnitine Palmitoyltransferase Ii Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1malignant hyperthermia30.4MB
2hypoglycemia30.4CPT2, CPT1A, ACADVL
3insulin resistance30.1CPT2, CPT1A, MB
4myopathy30.1CPT2, CPT1A, ACADVL, MB
5diabetes mellitus30.0CPT1A
6myoglobinuria recurrent30.0ACADVL, CPT2
7systemic primary carnitine deficiency disease30.0ACADVL, CPT2
8cpt deficiency, hepatic, type ii10.4
9cpt ii deficiency, lethal neonatal10.3
10dandy-walker syndrome10.3
11pancreatitis10.3
12myopathy due to cpt ii deficiency10.3
13malignant hyperthermia susceptibility10.2
14carnitine-acylcarnitine translocase deficiency10.2
15fatty acid oxidation disorders10.2
16renal dysplasia10.2
17dilated cardiomyopathy10.1
18hepatitis10.1
19obesity10.1
20encephalopathy, acute, infection-induced, 410.1
21abetalipoproteinemia10.0
22glycogen storage disease v10.0
23cerebritis10.0
24protein s deficiency10.0
25morbid obesity10.0
26neuroleptic malignant syndrome10.0
27acute myocardial infarction10.0
28congestive heart failure10.0
29essential hypertension10.0
30glycogen storage disease10.0
31hypertension10.0
32influenza10.0
33myocardial infarction10.0
34respiratory failure10.0
35myelodysplastic syndromes10.0
36hypoxia10.0
37endotheliitis10.0
38sudden infant death syndrome10.0ACADVL
39carnitine palmitoyl transferase 1 deficiency10.0CPT1B, CPT1A
40acute kidney failure10.0MB, CPT2
41sudden cardiac death multi-gene panels10.0ACADVL, MB
42fatty liver disease10.0CPT2, CPT1A, ACADVL
43noonan syndrome10.0CPT2, ACADVL
44metabolic syndrome x10.0ACADVL, CPT1A, CPT2
45congenital heart defect10.0MB, ACADVL
46richter's syndrome9.9
47brain edema9.9
48malaria9.9
49multiple myeloma9.9
50myeloma9.9

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



Diseases related to carnitine palmitoyltransferase ii deficiency

Clinical Features for Carnitine Palmitoyltransferase Ii Deficiency

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Drugs & Therapeutics for Carnitine Palmitoyltransferase Ii Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Drug clinical trials:

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Genetic Tests for Carnitine Palmitoyltransferase Ii Deficiency

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20GeneTests, 22GTR
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Genetic tests related to Carnitine Palmitoyltransferase Ii Deficiency:

id Genetic test Affiliating Genes
1 Carnitine Palmitoyltransferase Ii Deficiency20 22 CPT2

Anatomical Context for Carnitine Palmitoyltransferase Ii Deficiency

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32MalaCards
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MalaCards organs/tissues related to Carnitine Palmitoyltransferase Ii Deficiency:

32
Liver, Skeletal muscle, Brain, Whole blood, Kidney

Animal Models for Carnitine Palmitoyltransferase Ii Deficiency or affiliated genes

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Publications for Carnitine Palmitoyltransferase Ii Deficiency

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50PubMed
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Articles related to Carnitine Palmitoyltransferase Ii Deficiency:

(show top 50)    (show all 73)
idTitleAuthorsYear
1
Novel mutations in the gene encoding very long-chain acyl-CoA dehydrogenase identified in patients with partial carnitine palmitoyltransferase II deficiency. (23169530)
2013
2
Neonatal carnitine palmitoyltransferase II deficiency: failure of treatment despite prolonged survival. (21709843)
2009
3
Severe infantile carnitine palmitoyltransferase II deficiency in 19-week fetal sibs. (19335026)
2009
4
Autopsy case of the neonatal form of carnitine palmitoyltransferase-II deficiency triggered by a novel disease-causing mutation del1737C. (18577113)
2008
5
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. (18550408)
2008
6
Reversible asphyxial status in a newborn due to neonatal form of carnitine palmitoyltransferase II deficiency. (18987586)
2008
7
Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency. (18363739)
2008
8
Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation. (17372854)
2007
9
Anesthetic management of a parturient with carnitine palmitoyltransferase II deficiency. (16636033)
2006
10
Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency. (16996287)
2006
11
Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects. (15642848)
2005
12
Quantitation of long-chain acylcarnitines by HPLC/fluorescence detection: application to plasma and tissue specimens from patients with carnitine palmitoyltransferase-II deficiency. (15653102)
2005
13
Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: clinical, biochemical, and genetic features of adult-onset cases. (15776096)
2005
14
Carnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF. (15754283)
2005
15
Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. (14615409)
2003
16
Lethal neonatal carnitine palmitoyltransferase II deficiency: an unusual presentation of a rare disorder. (12638078)
2003
17
Exercise tolerance in carnitine palmitoyltransferase II deficiency with IV and oral glucose. (12370460)
2002
18
Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry. (11999976)
2002
19
A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency. (11855939)
2002
20
Phenotypic variability among first-degree relatives with carnitine palmitoyltransferase II deficiency. (12362414)
2002
21
Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations. (12410208)
2002
22
Valproic acid triggers acute rhabdomyolysis in a patient with carnitine palmitoyltransferase type II deficiency. (11595519)
2001
23
Antenatal presentation of carnitine palmitoyltransferase II deficiency. (11477613)
2001
24
"Adult" form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child. (11585077)
2001
25
Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry. (11389301)
2001
26
The diagnosis of carnitine palmitoyltransferase II deficiency is now possible in small skeletal muscle biopsies. (10896292)
2000
27
Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency. (10862092)
2000
28
Genetics of carnitine palmitoyltransferase II deficiencies. (10709661)
1999
29
Biochemical and molecular correlations in carnitine palmitoyltransferase II deficiency. (10398218)
1999
30
Novel mutations associated with carnitine palmitoyltransferase II deficiency. (10090476)
1999
31
Rhabdomyolysis in carnitine palmitoyltransferase II deficiency: developments in pathophysiology, diagnosis and therapy]. (9691338)
1998
32
Metabolic studies in a patient with severe carnitine palmitoyltransferase type II deficiency. (9657346)
1998
33
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes. (9600456)
1998
34
A novel mutation identified in carnitine palmitoyltransferase II deficiency. (9562964)
1998
35
Carnitine palmitoyltransferase II deficiency: diagnosis by molecular analysis of blood. (9309694)
1997
36
Molecular analysis of a patient with carnitine palmitoyltransferase II deficiency]. (9366186)
1997
37
Two novel gene mutations (Glu174-->Lys, Phe383-->Tyr) causing the "hepatic" form of carnitine palmitoyltransferase II deficiency. (8682496)
1996
38
Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: expression of the molecular phenotype in cultured muscle cells. (8815169)
1996
39
Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression. (8651281)
1996
40
Infantile form of carnitine palmitoyltransferase II deficiency in a girl with rapid fatal onset. (7474909)
1995
41
Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys. (7658272)
1995
42
Profound carnitine palmitoyltransferase II deficiency. (8283368)
1994
43
Carnitine palmitoyltransferase II deficiency: a new cause of recurrent pancreatitis. (8201482)
1994
44
Central nervous system disorders and possible brain type carnitine palmitoyltransferase II deficiency. (8048703)
1994
45
Myoglobinuria due to a deficiency of carnitine palmitoyltransferase II. A clinical case report]. (8023007)
1994
46
Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency. (8501570)
1993
47
Pathophysiological approach to carnitine palmitoyltransferase II deficiencies. (1438375)
1992
48
Molecular characterization of inherited carnitine palmitoyltransferase II deficiency. (1528846)
1992
49
Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II. (1961225)
1991
50
Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies. (1999498)
1991

Genetic Variations for Carnitine Palmitoyltransferase Ii Deficiency

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Expression for genes affiliated with Carnitine Palmitoyltransferase Ii Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Carnitine Palmitoyltransferase Ii Deficiency

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Pathways for genes affiliated with Carnitine Palmitoyltransferase Ii Deficiency

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37NCBI BioSystems Database, 12EMD Millipore, 29KEGG, 53Reactome, 51QIAGEN
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Compounds for genes affiliated with Carnitine Palmitoyltransferase Ii Deficiency

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44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB
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Compounds related to Carnitine Palmitoyltransferase Ii Deficiency according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1perhexiline44 1110.8CPT2, CPT1A
2pristanic acid44 28 2411.7CPT1A, CPT2
3acetyl-l-carnitine449.6CPT1A, ACADVL
4linoleic acid44 28 2411.5CPT2, CPT1A
5s-adenosylmethionine44 11 2411.2ACADVL, CPT1A, CPT2
6etomoxir449.2CPT2, CPT1A, CPT1B
7malonyl-coa44 2410.2CPT1B, CPT1A, CPT2
8L-Carnitine11 2410.2CPT2, CPT1A, CPT1B
9Coenzyme A11 2410.2CPT1B, CPT1A, CPT2
10bezafibrate44 28 1111.1MB, CPT1A
11pyruvate449.1CPT2, CPT1A, CPT1B
12glycogen44 2410.0CPT2, CPT1A, CPT1B
13citrate448.9CPT2, CPT1A, MB
14acyl-coa448.7CPT2, CPT1A, CPT1B, ACADVL
15palmitate448.7ACADVL, CPT1B, CPT1A, CPT2
16acetyl-coa44 249.7ACADVL, CPT1B, CPT1A, CPT2
17fatty acid448.6CPT2, CPT1A, CPT1B, ACADVL
18lactate448.6CPT2, CPT1A, MB
19glucose448.5ACADVL, CPT1B, CPT1A, CPT2
20lipid448.4ACADVL, CPT1B, CPT1A, CPT2
21creatinine448.4CPT2, ACADVL, MB
22glycerol44 11 2410.4MB, CPT1B, CPT1A, CPT2
23carnitine447.9CPT2, CPT1A, CPT1B, ACADVL, MB

GO Terms for genes affiliated with Carnitine Palmitoyltransferase Ii Deficiency

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16Gene Ontology
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Cellular components related to Carnitine Palmitoyltransferase Ii Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial outer membraneGO:0057419.3CPT1A, CPT1B
2mitochondrial inner membraneGO:0057438.7CPT2, CPT1A, ACADVL
3mitochondrionGO:0057398.3CPT2, CPT1A, CPT1B, ACADVL

Biological processes related to Carnitine Palmitoyltransferase Ii Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1carnitine shuttleGO:0068538.8CPT2, CPT1A, CPT1B
2fatty acid beta-oxidationGO:0066358.4CPT2, CPT1A, CPT1B, ACADVL
3small molecule metabolic processGO:0442818.4CPT2, CPT1A, CPT1B, ACADVL
4cellular lipid metabolic processGO:0442558.1ACADVL, CPT1B, CPT1A, CPT2

Molecular functions related to Carnitine Palmitoyltransferase Ii Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1carnitine O-palmitoyltransferase activityGO:0040958.9CPT2, CPT1A, CPT1B

Products for genes affiliated with Carnitine Palmitoyltransferase Ii Deficiency

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  • Antibodies
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Sources for Carnitine Palmitoyltransferase Ii Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet