| Disease Aliases (24) | Carnitine deficiency, primary Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine Carnitine transporter, plasma-membrane, deficiency of Carnitine uptake defect Carnitine deficiency, systemic primary Carnitine deficiency, systemic primary; cdsp Cdsp Cud Carnitine deficiency, systemic Carnitine transporter deficiency Carnitine uptake deficiency Carnitine deficiency Carnitine plasma-membrane transporter deficiency Carnitine transporter defect Deficiency of plasma-membrane carnitine transporter Pcd Primary carnitine deficiency Primary systemic carnitine deficiency Renal carnitine transport defect Scd Spcd Systemic carnitine deficiency Systemic primary carnitine deficiency Systemic primary carnitine deficiency disease |
Associated Genes (1) NCBI-RefSeq: SLC22A5 (Solute carrier family 22 member 5) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Renal carnitine transport defect | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |