MCID: CPT004
MIFTS: 18

Cpt Deficiency, Hepatic, Type Ii malady

Neuronal diseases, Metabolic diseases, Rare diseases, Liver diseases categories
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Summaries for Cpt Deficiency, Hepatic, Type Ii

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MalaCards based summary: Cpt Deficiency, Hepatic, Type Ii, is also known as carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form, and has symptoms including hepatomegaly/liver enlargement (excluding storage disease), cardiomyopathy/hypertrophic/dilated and hypoglycemia. An important gene associated with Cpt Deficiency, Hepatic, Type Ii is CPT2 (carnitine palmitoyltransferase 2). Affiliated tissues include liver.

Description from OMIM:46 600649

Aliases & Classifications for Cpt Deficiency, Hepatic, Type Ii

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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet
See all sources

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

Name: Cpt Deficiency, Hepatic, Type Ii 46
Carnitine Palmitoyl Transferase Deficiency Type 2, Hepatocardiomuscular Form 48
Carnitine Palmitoyl Transferase Deficiency Type 2, Severe Infantile Form 48
Carnitine Palmitoyl Transferase Ii Deficiency, Hepatocardiomuscular Form 48
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form 48
 
Cptii, Hepatocardiomuscular Form 48
Cpt2, Hepatocardiomuscular Form 48
Cptii, Severe Infantile Form 48
Cpt2, Severe Infantile Form 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases, Rare diseases
Anatomical: Neuronal diseases, Liver diseases


Characteristics (Orphanet epidemiological data):

48
carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


External Ids:

OMIM46 600649
ICD10 via Orphanet26 E71.3

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

Symptoms:

48 (show all 9)
  • hepatomegaly/liver enlargement (excluding storage disease)
  • cardiomyopathy/hypertrophic/dilated
  • hypoglycemia
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • cardiac rhythm disorder/arrhythmia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • myopathy
  • hepatocellular liver disease/hepatic failure
  • death in infancy

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

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Drug clinical trials:

Search ClinicalTrials for Cpt Deficiency, Hepatic, Type Ii

Search 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:

32
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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Clinvar genetic disease variations for Cpt Deficiency, Hepatic, Type Ii:

6
id Gene Name Type Significance SNP ID Assembly Location
1CPT2NM_000098.2(CPT2): c.1891C> T (p.Arg631Cys)single nucleotide variantPathogenicrs74315293GRCh37Chr 1, 53679181: 53679181
2CPT2NM_000098.2(CPT2): c.149C> A (p.Pro50His)single nucleotide variantPathogenicrs28936375GRCh37Chr 1, 53662764: 53662764
3CPT2NM_000098.2(CPT2): c.1883A> C (p.Tyr628Ser)single nucleotide variantPathogenicrs28936673GRCh37Chr 1, 53679173: 53679173
4CPT2NM_000098.2(CPT2): c.520G> A (p.Glu174Lys)single nucleotide variantPathogenicrs28936674GRCh37Chr 1, 53675866: 53675866
5CPT2NM_000098.2(CPT2): c.1148T> A (p.Phe383Tyr)single nucleotide variantPathogenicrs74315295GRCh37Chr 1, 53676494: 53676494
6CPT2NM_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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Expression patterns in normal tissues for genes affiliated with Cpt Deficiency, Hepatic, Type Ii

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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Compounds 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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Products for genes affiliated with Cpt Deficiency, Hepatic, Type Ii

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  • Antibodies
  • Proteins
  • Lysates

Sources for Cpt Deficiency, Hepatic, Type Ii

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet