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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:systemic primary carnitine deficiency disease
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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:20574985, PMID:28492532 NCBI chr10:39,654,771...39,717,592
Ensembl chr10:39,655,455...39,719,312
JBrowse link
G Cdc42se2 CDC42 small effector 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985, PMID:28492532 NCBI chr10:40,054,393...40,122,915
Ensembl chr10:40,054,400...40,122,915
JBrowse link
G Csf2 colony stimulating factor 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985, PMID:28492532 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
JBrowse link
G Fnip1 folliculin interacting protein 1 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985, PMID:28492532 NCBI chr10:39,786,687...39,870,188 JBrowse link
G Hint1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985, PMID:28492532 NCBI chr10:40,208,236...40,211,981
Ensembl chr10:40,208,223...40,211,975
JBrowse link
G Il3 interleukin 3 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985, PMID:28492532 NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
JBrowse link
G Lyrm7 LYR motif containing 7 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985, PMID:28492532 NCBI chr10:40,183,061...40,201,992
Ensembl chr10:40,183,078...40,201,992
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 chr10:39,435,227...39,464,134
Ensembl chr10:39,435,227...39,464,188
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 chr10:39,390,578...39,405,322
Ensembl chr10:39,390,581...39,405,311
JBrowse link
G Rapgef6 Rap guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985, PMID:28492532 NCBI chr10:39,875,322...40,039,929
Ensembl chr10:39,875,371...40,039,929
JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar NCBI chr10:57,268,331...57,272,667
Ensembl chr10:57,268,375...57,272,660
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 chr10:39,334,972...39,373,508 JBrowse link
G Slc22a5 solute carrier family 22 member 5 ISO DNA:missense mutations:cds:p.S28I, p.Y447C (human)
ClinVar Annotator: match by term: Renal carnitine transport defect
ClinVar Annotator: match by OMIM:212140
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:2199596, PMID:2216472, PMID:2235122, PMID:3215194, PMID:3974805, PMID:9634512, PMID:9700600, PMID:9700603, PMID:9826541, PMID:9916797, PMID:10051646, PMID:10072434, PMID:10425211, PMID:10454528, PMID:10480371, PMID:10545605, PMID:10559218, PMID:10612840, PMID:10679939, PMID:11058897, PMID:11261427, PMID:11715001, PMID:12183691, PMID:12204000, PMID:12210323, PMID:12408185, PMID:12409266, PMID:14605509, PMID:14665638, PMID:15107849, PMID:15303004, PMID:15523054, PMID:15617188, PMID:15714519, PMID:16333318, PMID:16437728, PMID:16602102, PMID:16652335, PMID:16830263, PMID:16865412, PMID:16931768, PMID:17126586, PMID:17213842, PMID:17594400, PMID:17703373, PMID:18337137, PMID:18673259, PMID:19141711, PMID:19208393, PMID:19238580, PMID:19419416, PMID:20027113, PMID:20074989, PMID:20208395, PMID:20574985, PMID:21126579, PMID:21864509, PMID:21922592, PMID:22116472, PMID:22494076, PMID:23090741, PMID:23379544, PMID:23430798, PMID:23430858, PMID:23430869, PMID:23520115, PMID:23653224, PMID:23757202, PMID:23798014, PMID:23963628, PMID:24033266, PMID:24516753, PMID:24517888, PMID:24746540, PMID:24997454, PMID:25132046, PMID:25224063, PMID:25525159, PMID:25665836, PMID:25741868, PMID:25846890, PMID:25961151, PMID:26075114, PMID:26190315, PMID:26252091, PMID:26350513, PMID:26589311, PMID:26828774, PMID:26990548, PMID:27181684, PMID:27320645, PMID:27581592, PMID:27896095, PMID:27931018, PMID:28074886, PMID:28295041, PMID:28492532, PMID:28554332, PMID:28711408, PMID:28753539, PMID:28841266, PMID:28857146, PMID:29132460, PMID:29790872, PMID:30609409, PMID:30838026, PMID:30863740, PMID:30904546, PMID:31187905, PMID:31364285, PMID:31864849, PMID:12408185 RGD:1580611 NCBI chr10:39,201,101...39,228,090
Ensembl chr10:39,201,107...39,323,853
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        muscular disease 1223
          systemic primary carnitine deficiency disease 13
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        peripheral nervous system disease 2500
          neuropathy 2320
            neuromuscular disease 1805
              muscular disease 1223
                systemic primary carnitine deficiency disease 13
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.