GenTIGSA Gene Database on Rare Genetic Disorders
Renal Carnitine Transport Defect  
Disease Aliases (15)

Carnitine deficiency

Carnitine deficiency, systemic

Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine

Carnitine transporter defect

Carnitine transporter deficiency

Carnitine transporter, plasma-membrane, deficiency of

Carnitine uptake defect

Carnitine uptake deficiency

Cdsp

Cud

Deficiency of plasma-membrane carnitine transporter

Primary carnitine deficiency

Spcd

Systemic carnitine deficiency

Systemic primary carnitine deficiency

Associated Genes (0)
 

Cross-references of Renal carnitine transport defect OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations