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Autosomal dominant intermediate Charcot-Marie-Tooth disease type E

Orpha number ORPHA93114
Synonym(s) CMTDIE
Charcot-Marie-Tooth disease - nephropathy
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Not applicable
Age of onset No data available
ICD-10
  • G60.0
  • N04.1
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

This syndrome 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.


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Detailed information

Anesthesia guidelines
  • EN (2014,pdf)
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