MCID: CPT004
MIFTS: 14

Cpt Deficiency, Hepatic, Type Ii malady

Genetic diseases (common) category

Aliases & Classifications for Cpt Deficiency, Hepatic, Type Ii

About this section

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

Name: Cpt Deficiency, Hepatic, Type Ii 49 11
Carnitine Palmitoyltransferase Ii Deficiency, Infantile 65
 
Carnitine Palmitoyltransferase 2 Deficiency Infantile 67
Cpt2di 67


Classifications:



External Ids:

OMIM49 600649
MedGen34 C1833511

Summaries for Cpt Deficiency, Hepatic, Type Ii

About this section
UniProtKB/Swiss-Prot:67 Carnitine palmitoyltransferase 2 deficiency infantile: A 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, is also known as carnitine palmitoyltransferase ii deficiency, infantile, and has symptoms including hypertrophic cardiomyopathy, hypoglycemia and hepatomegaly. An important gene associated with Cpt Deficiency, Hepatic, Type Ii is CPT2 (Carnitine Palmitoyltransferase 2). Affiliated tissues include liver.

Description from OMIM:49 600649

Related Diseases for Cpt Deficiency, Hepatic, Type Ii

About this section

Symptoms for Cpt Deficiency, Hepatic, Type Ii

About this section

Symptoms by clinical synopsis from OMIM:

600649

Clinical features from OMIM:

600649

HPO human phenotypes related to Cpt Deficiency, Hepatic, Type Ii:

(show all 22)
id Description Frequency HPO Source Accession
1 hypertrophic cardiomyopathy hallmark (90%) HP:0001639
2 hypoglycemia hallmark (90%) HP:0001943
3 hepatomegaly hallmark (90%) HP:0002240
4 seizures typical (50%) HP:0001250
5 nausea and vomiting typical (50%) HP:0002017
6 myopathy typical (50%) HP:0003198
7 arrhythmia typical (50%) HP:0011675
8 hepatic failure occasional (7.5%) HP:0001399
9 autosomal recessive inheritance HP:0000007
10 seizures HP:0001250
11 lethargy HP:0001254
12 macrovesicular hepatic steatosis HP:0001403
13 cardiomegaly HP:0001640
14 dilated cardiomyopathy HP:0001644
15 hypoketotic hypoglycemia HP:0001985
16 hyperammonemia HP:0001987
17 vomiting HP:0002013
18 hepatomegaly HP:0002240
19 elevated hepatic transaminases HP:0002910
20 elevated serum creatine phosphokinase HP:0003236
21 infantile onset HP:0003593
22 respiratory arrest HP:0005943

Drugs & Therapeutics for Cpt Deficiency, Hepatic, Type Ii

About this section

Interventional clinical trials:

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

Genetic Tests for Cpt Deficiency, Hepatic, Type Ii

About this section

Anatomical Context for Cpt Deficiency, Hepatic, Type Ii

About this section

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

33
Liver

Animal Models for Cpt Deficiency, Hepatic, Type Ii or affiliated genes

About this section

Publications for Cpt Deficiency, Hepatic, Type Ii

About this section

Variations for Cpt Deficiency, Hepatic, Type Ii

About this section

Clinvar genetic disease variations for Cpt Deficiency, Hepatic, Type Ii:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CPT2NM_000098.2(CPT2): c.886C> T (p.Arg296Ter)single nucleotide variantLikely pathogenic, Pathogenicrs727503887GRCh37Chr 1, 53676232: 53676232
2CPT2NM_000098.2(CPT2): c.1369A> T (p.Lys457Ter)single nucleotide variantLikely pathogenicrs756931329GRCh37Chr 1, 53676715: 53676715
3CPT2NM_000098.2(CPT2): c.1348A> T (p.Arg450Ter)single nucleotide variantLikely pathogenicrs755395180GRCh37Chr 1, 53676694: 53676694
4CPT2NM_000098.2(CPT2): c.38delG (p.Gly13Alafs)deletionLikely pathogenicrs786204647GRCh37Chr 1, 53662653: 53662653
5CPT2NM_000098.2(CPT2): c.1891C> T (p.Arg631Cys)single nucleotide variantPathogenicrs74315293GRCh37Chr 1, 53679181: 53679181
6CPT2NM_000098.2(CPT2): c.149C> A (p.Pro50His)single nucleotide variantPathogenicrs28936375GRCh37Chr 1, 53662764: 53662764
7CPT2NM_000098.2(CPT2): c.1883A> C (p.Tyr628Ser)single nucleotide variantPathogenicrs28936673GRCh37Chr 1, 53679173: 53679173
8CPT2NM_000098.2(CPT2): c.520G> A (p.Glu174Lys)single nucleotide variantPathogenicrs28936674GRCh37Chr 1, 53675866: 53675866
9CPT2NM_000098.2(CPT2): c.1148T> A (p.Phe383Tyr)single nucleotide variantPathogenicrs74315295GRCh37Chr 1, 53676494: 53676494
10CPT2NM_000098.2(CPT2): c.359A> G (p.Tyr120Cys)single nucleotide variantPathogenicrs121918528GRCh37Chr 1, 53675705: 53675705

Expression for genes affiliated with Cpt Deficiency, Hepatic, Type Ii

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

Pathways for genes affiliated with Cpt Deficiency, Hepatic, Type Ii

About this section

GO Terms for genes affiliated with Cpt Deficiency, Hepatic, Type Ii

About this section

Sources for Cpt Deficiency, Hepatic, Type Ii

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet