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Systemic primary carnitine deficiency
1 OMIM reference -
1 associated gene
1 connected disease
No signs/symptoms info
Disease Type of connection
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Synonym(s):
- CUD
- Carnitine transporter defect
- Carnitine uptake deficiency
- Deficiency of plasma-membrane carnitine transporter
- PCD
- Primary systemic carnitine deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SLC22A5 O76082603377
No signs/symptoms info available.