Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:systemic primary carnitine deficiency disease
go back to main search page
Accession:DOID:14365 term browser browse the term
Definition:An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy. (DO)
Synonyms:exact_synonym: CDSP;   CUD;   Carnitine Uptake Deficiency;   Carnitine uptake defect;   SCD;   carnitine transporter deficiency;   carnitine transporter, plasma-membrane, deficiency of;   primary carnitine deficiency;   renal carnitine transport defect;   systemic carnitine deficiency;   systemic carnitine deficiency due to defect in renal reabsorption of carnitine;   systemic primary carnitine deficiency
 primary_id: MESH:C536778
 alt_id: OMIM:212140
 xref: ICD10CM:E71.41;   ICD9CM:277.81;   NCI:C98864
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
systemic primary carnitine deficiency disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsl6 acyl-CoA synthetase long-chain family member 6 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr10:38,439,914...38,501,182
Ensembl chr10:38,440,080...38,498,757
JBrowse link
G Cdc42se2 CDC42 small effector 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr10:38,836,549...38,905,056
Ensembl chr10:38,836,555...38,905,059
Ensembl chr 1:38,836,555...38,905,059
JBrowse link
G Csf2 colony stimulating factor 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
JBrowse link
G Fnip1 folliculin interacting protein 1 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr10:38,567,728...38,650,824
Ensembl chr10:38,567,729...38,650,824
JBrowse link
G Hint1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr10:38,989,516...38,993,259
Ensembl chr 4:92,100,973...92,101,568
JBrowse link
G Il3 interleukin 3 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
JBrowse link
G Lyrm7 LYR motif containing 7 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr10:38,964,299...38,983,628
Ensembl chr10:38,964,311...38,983,601
JBrowse link
G P4ha2 prolyl 4-hydroxylase subunit alpha 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chr10:38,243,136...38,271,983
Ensembl chr10:38,243,139...38,287,314
JBrowse link
G Pdlim4 PDZ and LIM domain 4 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chr10:38,198,686...38,212,935
Ensembl chr10:38,198,689...38,212,938
JBrowse link
G Rapgef6 Rap guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr10:38,655,854...38,824,227
Ensembl chr10:38,655,867...38,823,211
JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar NCBI chr10:55,360,603...55,364,927
Ensembl chr10:55,360,543...55,364,927
JBrowse link
G Slc22a4 solute carrier family 22 member 4 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chr10:38,133,333...38,179,932
Ensembl chr10:38,133,322...38,179,720
JBrowse link
G Slc22a5 solute carrier family 22 member 5 ISO
ISS
DNA:missense mutations:cds:p.S28I, p.Y447C (human)
CTD Direct Evidence: marker/mechanism
OMIM:212140
ClinVar Annotator: match by term: Carnitine transporter deficiency | ClinVar Annotator: match by term: Renal carnitine transport defect
OMIM
CTD
MouseDO
ClinVar
RGD
PMID:2199596 PMID:2216472 PMID:2235122 PMID:3215194 PMID:3974805 More... RGD:1580611 NCBI chr10:38,008,303...38,035,474
Ensembl chr10:38,008,311...38,035,309
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      musculoskeletal system disease 8262
        muscular disease 2133
          systemic primary carnitine deficiency disease 13
Path 2
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      nervous system disease 14053
        peripheral nervous system disease 4086
          neuropathy 3871
            neuromuscular disease 3045
              muscular disease 2133
                systemic primary carnitine deficiency disease 13
paths to the root