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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:carnitine-acylcarnitine translocase deficiency
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Accession:DOID:0111585 term browser browse the term
Definition:A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A20 gene on chromosome 3p21.31. (DO)
Synonyms:exact_synonym: CACT Deficiency;   CACTD;   Carnitine-Acylcarnitine Carrier Deficiency;   SLC25A20-RELATED CONDITION
 primary_id: MESH:C562812
 alt_id: MIM:212138
 xref: GARD:1123;   NCI:C133086;   ORDO:159

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carnitine-acylcarnitine translocase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chrNW_004936529:1,049,364...1,054,458 JBrowse link
G Arih2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chrNW_004936529:648,661...713,616
Ensembl chrNW_004936529:648,675...713,675 		JBrowse link
G Ccdc71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chrNW_004936529:857,932...862,976
Ensembl chrNW_004936529:859,274...860,656 		JBrowse link
G Cimip7 ciliary microtubule inner protein 7 ISO ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chrNW_004936529:872,150...884,123
Ensembl chrNW_004936529:872,837...884,879 		JBrowse link
G CUNH3orf62 chromosome unknown C3orf62 homolog ISO ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chrNW_004936529:934,641...940,858
Ensembl chrNW_004936529:936,848...940,367 		JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chrNW_004936529:1,099,510...1,171,587
Ensembl chrNW_004936529:1,099,647...1,173,124 		JBrowse link
G Dalrd3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chrNW_004936529:740,861...744,461
Ensembl chrNW_004936529:740,975...745,427 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chrNW_004936529:997,943...999,123
Ensembl chrNW_004936529:998,150...998,987 		JBrowse link
G Iho1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chrNW_004936529:905,692...929,896
Ensembl chrNW_004936529:889,423...929,929 		JBrowse link
G Impdh2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chrNW_004936529:748,777...753,582
Ensembl chrNW_004936529:745,511...753,581 		JBrowse link
G Klhdc8b kelch domain containing 8B ISO ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chrNW_004936529:863,052...872,067
Ensembl chrNW_004936529:863,045...872,289 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chrNW_004936529:826,178...841,304
Ensembl chrNW_004936529:826,142...841,337 		JBrowse link
G Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chrNW_004936529:746,620...748,145
Ensembl chrNW_004936529:747,021...748,695 		JBrowse link
G Nicn1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chrNW_004936529:1,054,568...1,059,575
Ensembl chrNW_004936529:1,052,090...1,059,617 		JBrowse link
G P4htm prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chrNW_004936529:716,407...732,010
Ensembl chrNW_004936529:716,433...731,795 		JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chrNW_004936529:802,753...810,270
Ensembl chrNW_004936529:802,759...810,265 		JBrowse link
G Qrich1 glutamine rich 1 ISO ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chrNW_004936529:753,842...802,405
Ensembl chrNW_004936529:753,844...801,861 		JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chrNW_004936529:1,000,050...1,045,655
Ensembl chrNW_004936529:999,935...1,045,681 		JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency | ClinVar Annotator: match by term: SLC25A20-related condition OMIM
ClinVar		 PMID:1598097 PMID:5365988 PMID:9399886 PMID:9536098 PMID:9686371 More... NCBI chrNW_004936529:607,035...631,872
Ensembl chrNW_004936529:606,804...631,991 		JBrowse link
G Tcta T cell leukemia translocation altered ISO ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chrNW_004936529:1,045,735...1,047,922
Ensembl chrNW_004936529:1,045,798...1,050,384 		JBrowse link
G Usp19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chrNW_004936529:814,649...826,008
Ensembl chrNW_004936529:813,951...826,014 		JBrowse link
G Usp4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chrNW_004936529:941,042...989,781
Ensembl chrNW_004936529:938,501...989,884 		JBrowse link
G Wdr6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chrNW_004936529:731,958...741,334
Ensembl chrNW_004936529:730,716...745,427 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14622
    Nutritional and Metabolic Diseases 7060
      disease of metabolism 7060
        lipid metabolism disorder 1649
          carnitine-acylcarnitine translocase deficiency 23
Path 2
Term Annotations click to browse term
  disease 14622
    Developmental Disease 12814
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12019
        genetic disease 11735
          monogenic disease 10081
            autosomal genetic disease 9674
              autosomal recessive disease 6575
                carnitine-acylcarnitine translocase deficiency 23
paths to the root