Human Disease and Mouse Model Detail
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Human Disease
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Carnitine Deficiency, Systemic Primary; CDSP
OMIM ID: 212140
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Synonyms
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Carnitine Deficiency, Primary;
Carnitine Deficiency, Systemic, Due to Defect in Renal Reabsorption of Carnitine;
Carnitine Transporter, Plasma-Membrane, Deficiency of;
Carnitine Uptake Defect; CUD;
Systemic Carnitine Deficiency; SCD
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View all models
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View ALL (1) mouse models for this human disease.
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Genes and
mouse models
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Mutations in human and/or mouse homologs are associated with this disease
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*Gene is associated with the disease in this species |
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Slc22a5*
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SLC22A5*
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View 1 model
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1:1 Homology
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Mouse Models
Human Disease Modeled: Carnitine Deficiency, Systemic Primary; CDSP
Associated Mouse Gene:
Slc22a5
Analysis Tools