CPT2DI
MCID: CPT004
MIFTS: 39

Cpt Deficiency, Hepatic, Type Ii (CPT2DI) malady

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

Aliases & Classifications for Cpt Deficiency, Hepatic, Type Ii

Aliases & Descriptions for Cpt Deficiency, Hepatic, Type Ii:

Name: Cpt Deficiency, Hepatic, Type Ii 54 13
Carnitine Palmitoyltransferase 2 Deficiency, Infantile 66 29
Carnitine Palmitoyl Transferase Deficiency Type 2, Hepatocardiomuscular Form 56
Carnitine Palmitoyltransferase Ii Deficiency with Hypoketotic Hypoglycemia 66
Carnitine Palmitoyl Transferase Ii Deficiency, Hepatocardiomuscular Form 56
Carnitine Palmitoyl Transferase Deficiency Type 2, Severe Infantile Form 56
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form 56
Carnitine Palmitoyltransferase Ii Deficiency, Hepatocardiomuscular 66
Carnitine Palmitoyltransferase Ii Deficiency, Infantile 54
Cptii, Hepatocardiomuscular Form 56
Cpt2, Hepatocardiomuscular Form 56
Cptii, Severe Infantile Form 56
Cpt2, Severe Infantile Form 56
Cpt Ii Deficiency, Hepatic 66
Cpt2 Deficiency, Infantile 66
Cpt2di 66

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

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


Classifications:



External Ids:

OMIM 54 600649
Orphanet 56 ORPHA228305
ICD10 via Orphanet 34 E71.3
MedGen 40 C1833511
MeSH 42 D008661

Summaries for Cpt Deficiency, Hepatic, Type Ii

UniProtKB/Swiss-Prot : 66 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.

MalaCards based summary : Cpt Deficiency, Hepatic, Type Ii, also known as carnitine palmitoyltransferase 2 deficiency, infantile, is related to carnitine palmitoyltransferase ii deficiency and b-cell childhood acute lymphoblastic leukemia, and has symptoms including seizures, nausea and vomiting and hepatomegaly. An important gene associated with Cpt Deficiency, Hepatic, Type Ii is CPT2 (Carnitine Palmitoyltransferase 2), and among its related pathways/superpathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). Affiliated tissues include liver, and related phenotype is mortality/aging.

Description from OMIM: 600649

Related Diseases for Cpt Deficiency, Hepatic, Type Ii

Graphical network of the top 20 diseases related to Cpt Deficiency, Hepatic, Type Ii:



Diseases related to Cpt Deficiency, Hepatic, Type Ii

Symptoms & Phenotypes for Cpt Deficiency, Hepatic, Type Ii

Symptoms by clinical synopsis from OMIM:

600649

Clinical features from OMIM:

600649

Human phenotypes related to Cpt Deficiency, Hepatic, Type Ii:

56 32 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Frequent (79-30%) HP:0001250
2 nausea and vomiting 56 32 Frequent (79-30%) HP:0002017
3 hepatomegaly 56 32 Very frequent (99-80%) HP:0002240
4 myopathy 56 32 Frequent (79-30%) HP:0003198
5 arrhythmia 56 32 Frequent (79-30%) HP:0011675
6 cardiomyopathy 56 32 Very frequent (99-80%) HP:0001638
7 hepatic failure 56 32 Occasional (29-5%) HP:0001399
8 hypoketotic hypoglycemia 56 32 Very frequent (99-80%) HP:0001985
9 vomiting 32 HP:0002013
10 lethargy 32 HP:0001254
11 cardiomegaly 32 HP:0001640
12 elevated serum creatine phosphokinase 32 HP:0003236
13 death in infancy 56 Occasional (29-5%)
14 elevated hepatic transaminases 32 HP:0002910
15 hyperammonemia 32 HP:0001987
16 dilated cardiomyopathy 32 HP:0001644
17 macrovesicular hepatic steatosis 32 HP:0001403
18 respiratory arrest 32 HP:0005943

UMLS symptoms related to Cpt Deficiency, Hepatic, Type Ii:


lethargy, seizures, vomiting

MGI Mouse Phenotypes related to Cpt Deficiency, Hepatic, Type Ii:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.32 SLC25A20 TOP3B ACADL ACADVL CPT1A CPT1B

Drugs & Therapeutics for Cpt Deficiency, Hepatic, Type Ii

Search Clinical Trials , NIH Clinical Center for Cpt Deficiency, Hepatic, Type Ii

Genetic Tests for Cpt Deficiency, Hepatic, Type Ii

Genetic tests related to Cpt Deficiency, Hepatic, Type Ii:

id Genetic test Affiliating Genes
1 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 29

Anatomical Context for Cpt Deficiency, Hepatic, Type Ii

MalaCards organs/tissues related to Cpt Deficiency, Hepatic, Type Ii:

39
Liver

Publications for Cpt Deficiency, Hepatic, Type Ii

Variations for Cpt Deficiency, Hepatic, Type Ii

UniProtKB/Swiss-Prot genetic disease variations for Cpt Deficiency, Hepatic, Type Ii:

66
id 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 Cpt Deficiency, Hepatic, Type Ii:

6 (show all 26)
id 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.149C> A (p.Pro50His) single nucleotide variant Pathogenic rs28936375 GRCh37 Chromosome 1, 53662764: 53662764
3 CPT2 NM_000098.2(CPT2): c.1883A> C (p.Tyr628Ser) single nucleotide variant Pathogenic rs28936673 GRCh37 Chromosome 1, 53679173: 53679173
4 CPT2 NM_000098.2(CPT2): c.520G> A (p.Glu174Lys) single nucleotide variant Pathogenic rs28936674 GRCh37 Chromosome 1, 53675866: 53675866
5 CPT2 NM_000098.2(CPT2): c.1148T> A (p.Phe383Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs74315295 GRCh37 Chromosome 1, 53676494: 53676494
6 CPT2 NM_000098.2(CPT2): c.359A> G (p.Tyr120Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918528 GRCh37 Chromosome 1, 53675705: 53675705
7 CPT2 NM_000098.2(CPT2): c.886C> T (p.Arg296Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727503887 GRCh37 Chromosome 1, 53676232: 53676232
8 CPT2 NM_000098.2(CPT2): c.38delG (p.Gly13Alafs) deletion Likely pathogenic rs786204647 GRCh38 Chromosome 1, 53196981: 53196981
9 CPT2 NM_000098.2(CPT2): c.1348A> T (p.Arg450Ter) single nucleotide variant Likely pathogenic rs755395180 GRCh37 Chromosome 1, 53676694: 53676694
10 CPT2 NM_000098.2(CPT2): c.1369A> T (p.Lys457Ter) single nucleotide variant Likely pathogenic rs756931329 GRCh38 Chromosome 1, 53211043: 53211043
11 CPT2 NM_000098.2(CPT2): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201065226 GRCh37 Chromosome 1, 53675716: 53675716
12 CPT2 NM_000098.2(CPT2): c.54_72dup19 (p.Leu25Glyfs) duplication Likely pathogenic rs1057517510 GRCh38 Chromosome 1, 53196997: 53197015
13 CPT2 NM_000098.2(CPT2): c.75delC (p.Ser26Alafs) deletion Likely pathogenic rs1057517493 GRCh38 Chromosome 1, 53197018: 53197018
14 CPT2 NM_000098.2(CPT2): c.95delG (p.Gly32Alafs) deletion Likely pathogenic rs1057517494 GRCh38 Chromosome 1, 53197038: 53197038
15 CPT2 NM_000098.2(CPT2): c.110_111dupGC (p.Ser38Alafs) duplication Likely pathogenic rs1057517466 GRCh38 Chromosome 1, 53197053: 53197054
16 CPT2 NM_000098.2(CPT2): c.606T> A (p.Tyr202Ter) single nucleotide variant Likely pathogenic rs755830520 GRCh38 Chromosome 1, 53210280: 53210280
17 CPT2 NM_000098.2(CPT2): c.1046dupA (p.Asn349Lysfs) duplication Likely pathogenic rs1057517515 GRCh38 Chromosome 1, 53210720: 53210720
18 CPT2 NM_000098.2(CPT2): c.1053G> A (p.Trp351Ter) single nucleotide variant Likely pathogenic rs761438840 GRCh38 Chromosome 1, 53210727: 53210727
19 CPT2 NM_000098.2(CPT2): c.1345C> T (p.Gln449Ter) single nucleotide variant Likely pathogenic rs1057517492 GRCh38 Chromosome 1, 53211019: 53211019
20 CPT2 NM_000098.2(CPT2): c.1345delCinsTA (p.Gln449Terfs) indel Likely pathogenic rs1057517525 GRCh37 Chromosome 1, 53676691: 53676691
21 CPT2 NM_000098.2(CPT2): c.1359_1362delAGAA (p.Lys453Asnfs) deletion Likely pathogenic rs1057517507 GRCh37 Chromosome 1, 53676705: 53676708
22 CPT2 NM_000098.2(CPT2): c.1414C> T (p.Gln472Ter) single nucleotide variant Likely pathogenic rs754386565 GRCh37 Chromosome 1, 53676760: 53676760
23 CPT2 NM_000098.2(CPT2): c.1545_1548delCTTT (p.Phe516Serfs) deletion Likely pathogenic rs1057517477 GRCh38 Chromosome 1, 53211219: 53211222
24 CPT2 NM_000098.2(CPT2): c.1614C> A (p.Tyr538Ter) single nucleotide variant Likely pathogenic rs1057517517 GRCh38 Chromosome 1, 53211288: 53211288
25 CPT2 NM_000098.2(CPT2): c.1645+2T> G single nucleotide variant Likely pathogenic rs1057517473 GRCh38 Chromosome 1, 53211321: 53211321
26 CPT2 NM_000098.2(CPT2): c.1774_1775delCT (p.Leu592Glufs) deletion Likely pathogenic rs767004984 GRCh38 Chromosome 1, 53213392: 53213393

Expression for Cpt Deficiency, Hepatic, Type Ii

Search GEO for disease gene expression data for Cpt Deficiency, Hepatic, Type Ii.

Pathways for Cpt Deficiency, Hepatic, Type Ii

Pathways related to Cpt Deficiency, Hepatic, Type Ii according to GeneCards Suite gene sharing:

(show all 14)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 ACADL ACADVL CPT1A CPT1B CPT2 CS
2
Show member pathways
12.57 ACADL ACADVL CPT1A CPT1B CPT2 HADHB
3
Show member pathways
11.87 CPT1A CPT1B CPT2
4 11.48 ACADL CPT1A CPT1B CPT2
5
Show member pathways
11.43 ACADL ACADVL HADHB
6
Show member pathways
11.4 ACADL ACADVL CPT1A CPT1B CPT2 HADHB
7 11.38 CPT1A CPT1B
8
Show member pathways
11.34 CPT1A CPT1B
9
Show member pathways
11.23 ACADL HADHB
10 11.21 CPT1A CPT1B
11 11.19 ACADVL CPT1A CPT1B
12 10.89 CPT1A CPT2
13
Show member pathways
10.89 ACADL ACADVL CPT1A CPT1B CPT2 HADHB
14 10.5 CPT1A CPT1B CPT2 SLC25A20

GO Terms for Cpt Deficiency, Hepatic, Type Ii

Cellular components related to Cpt Deficiency, Hepatic, Type Ii according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.46 ACADL ACADVL CS ETFDH
2 mitochondrial outer membrane GO:0005741 9.43 CPT1A CPT1B HADHB
3 mitochondrial inner membrane GO:0005743 9.43 ACADVL CPT1A CPT2 ETFDH HADHB SLC25A20
4 mitochondrial nucleoid GO:0042645 9.32 ACADVL HADHB
5 mitochondrion GO:0005739 9.28 ACADL ACADVL CPT1A CPT1B CPT2 CS

Biological processes related to Cpt Deficiency, Hepatic, Type Ii according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.8 ACADL ACADVL CPT1A CPT1B CPT2 HADHB
2 fatty acid metabolic process GO:0006631 9.63 ACADL ACADVL CPT1A CPT1B CPT2 HADHB
3 epithelial cell differentiation GO:0030855 9.48 ACADVL CPT1A
4 temperature homeostasis GO:0001659 9.46 ACADL ACADVL
5 negative regulation of fatty acid biosynthetic process GO:0045717 9.43 ACADL ACADVL
6 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.43 ACADL ACADVL ETFDH
7 regulation of cholesterol metabolic process GO:0090181 9.4 ACADL ACADVL
8 negative regulation of fatty acid oxidation GO:0046322 9.37 ACADL ACADVL
9 carnitine shuttle GO:0006853 9.26 CPT1A CPT1B CPT2 SLC25A20
10 fatty acid beta-oxidation GO:0006635 9.1 ACADL ACADVL CPT1A CPT1B CPT2 HADHB

Molecular functions related to Cpt Deficiency, Hepatic, Type Ii according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.8 CPT1A CPT1B CPT2 CS HADHB
2 flavin adenine dinucleotide binding GO:0050660 9.43 ACADL ACADVL ETFDH
3 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.37 ACADL ACADVL
4 acyl-CoA dehydrogenase activity GO:0003995 9.32 ACADL ACADVL
5 transferase activity, transferring acyl groups GO:0016746 9.26 CPT1A CPT1B CPT2 HADHB
6 long-chain-acyl-CoA dehydrogenase activity GO:0004466 9.16 ACADL ACADVL
7 carnitine O-palmitoyltransferase activity GO:0004095 8.8 CPT1A CPT1B CPT2

Sources for Cpt Deficiency, Hepatic, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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