MCID: CPT004
MIFTS: 25

Cpt Deficiency, Hepatic, Type Ii malady

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

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 50 12
Carnitine Palmitoyltransferase 2 Deficiency Infantile 68 25
Carnitine Palmitoyl Transferase Deficiency Type 2, Hepatocardiomuscular Form 52
Carnitine Palmitoyl Transferase Ii Deficiency, Hepatocardiomuscular Form 52
Carnitine Palmitoyl Transferase Deficiency Type 2, Severe Infantile Form 52
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form 52
 
Carnitine Palmitoyltransferase Ii Deficiency, Infantile 50
Cptii, Hepatocardiomuscular Form 52
Cpt2, Hepatocardiomuscular Form 52
Cptii, Severe Infantile Form 52
Cpt2, Severe Infantile Form 52
Cpt2di 68

Characteristics:

Orphanet epidemiological data:

52
carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood

HPO:

62
cpt deficiency, hepatic, type ii:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM50 600649
Orphanet52 ORPHA228305
ICD10 via Orphanet29 E71.3
MedGen35 C1833511

Summaries for Cpt Deficiency, Hepatic, Type Ii

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UniProtKB/Swiss-Prot:68 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, also known as carnitine palmitoyltransferase 2 deficiency infantile, is related to carnitine palmitoyltransferase ii deficiency, 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:50 600649

Related Diseases for Cpt Deficiency, Hepatic, Type Ii

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Diseases related to Cpt Deficiency, Hepatic, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1carnitine palmitoyltransferase ii deficiency11.7

Symptoms for Cpt Deficiency, Hepatic, Type Ii

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Symptoms by clinical synopsis from OMIM:

600649

Clinical features from OMIM:

600649

Symptoms:

 52 (show all 9)
  • seizures
  • hepatic failure
  • death in infancy
  • cardiomyopathy
  • hypoketotic hypoglycemia
  • nausea and vomiting
  • hepatomegaly
  • myopathy
  • arrhythmia

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

(show all 20)
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 seizures HP:0001250
10 lethargy HP:0001254
11 macrovesicular hepatic steatosis HP:0001403
12 cardiomegaly HP:0001640
13 dilated cardiomyopathy HP:0001644
14 hypoketotic hypoglycemia HP:0001985
15 hyperammonemia HP:0001987
16 vomiting HP:0002013
17 hepatomegaly HP:0002240
18 elevated hepatic transaminases HP:0002910
19 elevated serum creatine phosphokinase HP:0003236
20 respiratory arrest HP:0005943

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


hepatomegaly, lethargy, seizures, vomiting

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

id Genetic test Affiliating Genes
1 Carnitine Palmitoyltransferase Ii Deficiency, Infantile25

Anatomical Context for Cpt Deficiency, Hepatic, Type Ii

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

34
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:

68
id Symbol AA change Variation ID SNP ID
1CPT2p.Tyr628SerVAR_001398rs28936673
2CPT2p.Arg631CysVAR_001399rs74315293

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 pathogenicrs756931329GRCh38Chr 1, 53211043: 53211043
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet