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
Accession: DOID:14365
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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 .
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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:9536098 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: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:16931768 PMID:17126586 PMID:17213842 PMID:17576681 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:28492532 PMID:28554332 PMID:28711408 PMID:28753539 PMID:28841266 PMID:28857146 PMID:29132460 PMID:29165669 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
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