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Primary Fanconi renotubular syndrome

Disease definition

A rare generalized, genetic disorder of proximal tubular transport characterized by excessive urine output with loss of low molecular weight solutes (amino acids, glucose, low-molecular weight proteins, organic acids, carnitine, calcium, phosphate, potassium, bicarbonate) and water, and which can be life threatening.

ORPHA:3337

Classification level: Disorder
  • Synonym(s):
    • DeToni-Debré-Fanconi syndrome
    • Primary Fanconi renal syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: E72.0
  • OMIM: 134600  613388  615605  618913
  • UMLS: -
  • MeSH: -
  • GARD: 9118
  • MedDRA: -
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