MCID: CPT004
MIFTS: 15

Cpt Deficiency, Hepatic, Type Ii malady

Category: Genetic diseases (common)

Aliases & Classifications for Cpt Deficiency, Hepatic, Type Ii

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

Name: Cpt Deficiency, Hepatic, Type Ii 49 11
Carnitine Palmitoyltransferase 2 Deficiency Infantile 67 24
 
Cpt2di 67

Characteristics:

HPO:

61
cpt deficiency, hepatic, type ii:
Onset and clinical course: infantile onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 600649
MedGen34 C1833511

Summaries for Cpt Deficiency, Hepatic, Type Ii

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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 2 deficiency infantile, and has symptoms including hepatomegaly, hypoglycemia and hypertrophic cardiomyopathy. 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

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Symptoms for Cpt Deficiency, Hepatic, Type Ii

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Symptoms by clinical synopsis from OMIM:

600649

Clinical features from OMIM:

600649

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

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

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


vomiting, seizures, lethargy, hepatomegaly

Drugs & Therapeutics for Cpt Deficiency, Hepatic, Type Ii

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Interventional clinical trials:

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

Genetic Tests for Cpt Deficiency, Hepatic, Type Ii

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Anatomical Context for Cpt Deficiency, Hepatic, Type Ii

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

33
Liver

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

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Publications for Cpt Deficiency, Hepatic, Type Ii

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Variations for Cpt Deficiency, Hepatic, Type Ii

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

67
id Symbol AA change Variation ID SNP ID
1CPT2p.Tyr628SerVAR_001398rs28936673
2CPT2p.Arg631CysVAR_001399

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

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

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

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

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Sources for Cpt Deficiency, Hepatic, Type Ii

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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