CPT2
MCID: CRN183
MIFTS: 32

Carnitine Palmitoyltransferase Ii Deficiency (CPT2) malady

Summaries for Carnitine Palmitoyltransferase Ii Deficiency

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43NIH Rare Diseases, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 myoglobinuria recurrent and malignant hyperthermia. 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.

GeneReviews summary for cpt2

Aliases & Classifications for Carnitine Palmitoyltransferase Ii Deficiency

Sources:
19GeneReviews, 21Genetics Home Reference, 45Novoseek, 43NIH Rare Diseases, 20GeneTests, 22GTR, 61UMLS
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Aliases & Descriptions:

carnitine palmitoyltransferase ii deficiency 19 21 45
carnitine palmitoyltransferase ii deficiency 43 20 22
carnitine palmitoyltransferase 2 deficiency 43 21
cpt ii deficiency 19 21
carnitine palmitoyltransferase deficiency type 2 43
carnitine palmitoyl transferase 2 deficiency 61
cpt2 deficiency 21
cpt2 43


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 all 43)
idRelated DiseaseScoreTop Affiliating Genes
1myoglobinuria recurrent30.7CPT2, ACADVL
2malignant hyperthermia30.5MB
3hypoglycemia30.5ACADVL, CPT1A, CPT2
4insulin resistance30.2CPT2, CPT1A, MB
5systemic primary carnitine deficiency disease30.1CPT2, ACADVL
6cpt deficiency, hepatic, type ii10.4
7t cell deficiency10.4
8cpt ii deficiency, lethal neonatal10.4
9dandy-walker syndrome10.3
10protein s deficiency10.3
11n syndrome10.3
12protein c deficiency10.3
13carnitine palmitoyltransferase i deficiency , muscle10.3
14myopathic carnitine deficiency10.3
15myopathy due to cpt ii deficiency10.3
16malignant hyperthermia susceptibility10.2
17carnitine-acylcarnitine translocase deficiency10.2
18fatty acid oxidation disorders10.2
19renal dysplasia10.2
20encephalopathy, acute, infection-induced, 410.2
21abetalipoproteinemia10.1
22glycogen storage disease v10.1
23cerebritis10.1
24morbid obesity10.1
25neuroleptic malignant syndrome10.1
26acute myocardial infarction10.1
27myelodysplastic syndromes10.1
28hypoxia10.1
29endotheliitis10.1
30sudden infant death syndrome10.0ACADVL
31diabetes mellitus10.0CPT1A
32carnitine palmitoyl transferase 1 deficiency10.0CPT1A, CPT1B
33acute kidney failure10.0MB, CPT2
34sudden cardiac death multi-gene panels10.0MB, ACADVL
35fatty liver disease10.0ACADVL, CPT1A, CPT2
36noonan syndrome10.0CPT2, ACADVL
37metabolic syndrome x10.0CPT2, CPT1A, ACADVL
38congenital heart defect10.0MB, ACADVL
39myopathy10.0MB, CPT2, CPT1A, ACADVL
40richter's syndrome9.9
41brain edema9.9
42type 2 diabetes mellitus9.9
43hiv-19.9

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

Drugs & Therapeutics for Carnitine Palmitoyltransferase Ii Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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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

Sources:
33MalaCards
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MalaCards organs/tissues related to Carnitine Palmitoyltransferase Ii Deficiency:

33
Liver

Animal Models for Carnitine Palmitoyltransferase Ii Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Carnitine Palmitoyltransferase Ii Deficiency

Genetic Variations for Carnitine Palmitoyltransferase Ii Deficiency

Expression for genes affiliated with Carnitine Palmitoyltransferase Ii Deficiency

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

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

Pathways for genes affiliated with Carnitine Palmitoyltransferase Ii Deficiency

Sources:
38NCBI BioSystems Database, 12EMD Millipore, 30KEGG, 52QIAGEN, 54Reactome
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Compounds for genes affiliated with Carnitine Palmitoyltransferase Ii Deficiency

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 24HMDB
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Compounds related to Carnitine Palmitoyltransferase Ii Deficiency according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1perhexiline45 1110.8CPT2, CPT1A
2pristanic acid45 29 2411.7CPT2, CPT1A
3acetyl-l-carnitine459.6ACADVL, CPT1A
4linoleic acid45 29 2411.5CPT2, CPT1A
5s-adenosylmethionine45 11 2411.2ACADVL, CPT1A, CPT2
6etomoxir459.2CPT2, CPT1B, CPT1A
7malonyl-coa45 2410.2CPT2, CPT1A, CPT1B
8L-Carnitine11 2410.2CPT1B, CPT1A, CPT2
9Coenzyme A11 2410.2CPT2, CPT1A, CPT1B
10bezafibrate45 29 1111.1MB, CPT1A
11pyruvate459.1CPT1B, CPT2, CPT1A
12glycogen45 2410.0CPT1B, CPT2, CPT1A
13citrate458.9CPT2, CPT1A, MB
14acyl-coa458.7CPT1A, CPT2, CPT1B, ACADVL
15palmitate458.7CPT2, ACADVL, CPT1B, CPT1A
16acetyl-coa45 249.7CPT1A, CPT2, CPT1B, ACADVL
17fatty acid458.6CPT1B, CPT1A, CPT2, ACADVL
18lactate458.6CPT1A, CPT2, MB
19glucose458.5CPT1B, ACADVL, CPT1A, CPT2
20lipid458.4CPT2, CPT1A, CPT1B, ACADVL
21creatinine458.4ACADVL, CPT2, MB
22glycerol45 11 2410.4CPT1B, MB, CPT1A, CPT2
23carnitine457.9CPT1B, CPT2, CPT1A, ACADVL, MB

GO Terms for genes affiliated with Carnitine Palmitoyltransferase Ii Deficiency

Sources:
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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  • Proteins
  • Lysates
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Sources for Carnitine Palmitoyltransferase Ii Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet