Charcot-Marie-Tooth disease dominant intermediate E
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterized 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.
MONDO:0019548
autosomal dominant intermediate Charcot-Marie-Tooth disease
is_a
CMTDIE
exact
Charcot-Marie-Tooth disease - nephropathy
related
Charcot-Marie-Tooth disease dominant intermediate E
exact
Charcot-Marie-Tooth disease dominant intermediate type E
exact
Charcot-Marie-Tooth disease, dominant Intermediate type E
exact
Charcot-Marie-Tooth disease, dominant intermediate E
related
Charcot-Marie-Tooth disease-nephropathy syndrome
exact
Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis
exact
autosomal dominant intermediate Charcot-Marie-Tooth disease type E
exact