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Autosomal dominant intermediate Charcot-Marie-Tooth disease type E

Disease definition

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterised by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown.

ORPHA:93114

  • Synonym(s):
    • CMTDIE
    • Charcot-Marie-Tooth disease-nephropathy syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: No data available
  • ICD-10: G60.0
  • OMIM: 614455
  • UMLS: -
  • MeSH: -
  • GARD: 12011
  • MedDRA: -

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