MCID: CPT004
MIFTS: 16

Cpt Deficiency, Hepatic, Type Ii malady

Genetic diseases (common) category

Summaries for Cpt Deficiency, Hepatic, Type Ii

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MalaCards based summary: Cpt Deficiency, Hepatic, Type Ii, also known as carnitine palmitoyltransferase ii deficiency, infantile, is related to carnitine palmitoyltransferase ii deficiency, and has symptoms including autosomal recessive inheritance, seizures and lethargy. An important gene associated with Cpt Deficiency, Hepatic, Type Ii is CPT2 (carnitine palmitoyltransferase 2).

Description from OMIM:45 600649

Aliases & Classifications for Cpt Deficiency, Hepatic, Type Ii

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

Name: Cpt Deficiency, Hepatic, Type Ii 45 10
Carnitine Palmitoyltransferase Ii Deficiency, Infantile 45 60
 
Infantile Carnitine Palmitoyltransferase Ii Deficiency 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 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 deficiency10.6

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 14)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 seizures HP:0001250
3 lethargy HP:0001254
4 macrovesicular hepatic steatosis HP:0001403
5 cardiomegaly HP:0001640
6 dilated cardiomyopathy HP:0001644
7 hypoketotic hypoglycemia HP:0001985
8 hyperammonemia HP:0001987
9 vomiting HP:0002013
10 hepatomegaly HP:0002240
11 elevated hepatic transaminases HP:0002910
12 elevated serum creatine phosphokinase HP:0003236
13 infantile onset HP:0003593
14 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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Genetic tests related to Cpt Deficiency, Hepatic, Type Ii:

id Genetic test Affiliating Genes
1 Carnitine Palmitoyltransferase Ii Deficiency, Infantile22

Anatomical Context for Cpt Deficiency, Hepatic, Type Ii

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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 Variation 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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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
  • Proteins
  • Kits and Assays

Sources for Cpt Deficiency, Hepatic, Type Ii

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet