MCID: CPT004
MIFTS: 17

Cpt Deficiency, Hepatic, Type Ii malady

Neuronal diseases, Rare diseases, Liver diseases categories

Summaries for Cpt Deficiency, Hepatic, Type Ii

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48OMIM, 34MalaCards
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MalaCards: Cpt Deficiency, Hepatic, Type Ii, is also known as carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form, and has symptoms including death in infancy, hepatocellular liver disease/hepatic failure and hypoglycemia. An important gene associated with Cpt Deficiency, Hepatic, Type Ii is CPT2 (carnitine palmitoyltransferase 2). Affiliated tissues include liver.

Description from OMIM:48 600649

Aliases & Classifications for Cpt Deficiency, Hepatic, Type Ii

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Sources:
48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
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


Aliases & Descriptions:

cpt deficiency, hepatic, type ii 48
carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form 50
carnitine palmitoyl transferase deficiency type 2, severe infantile form 50
carnitine palmitoyl transferase ii deficiency, hepatocardiomuscular form 50
carnitine palmitoyl transferase ii deficiency, severe infantile form 50
cptii, hepatocardiomuscular form 50
cpt2, hepatocardiomuscular form 50
cptii, severe infantile form 50
cpt2, severe infantile form 50


External Ids:

OMIM48 600649
ICD10 via Orphanet27 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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Sources:
48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

600649

Clinical features from OMIM:

600649

Symptoms:

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

Drugs & Therapeutics for Cpt Deficiency, Hepatic, Type Ii

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Cpt Deficiency, Hepatic, Type Ii

Drug clinical trials:

Search ClinicalTrials for Cpt Deficiency, Hepatic, Type Ii

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

Search CenterWatch 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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34MalaCards
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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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Cpt Deficiency, Hepatic, Type Ii:

1
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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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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
  • Antibodies

Sources for Cpt Deficiency, Hepatic, Type Ii

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet