GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease, dominant intermediate E

Summary

Autosomal dominant intermediate Charcot-Marie-Tooth disease E with focal segmental glomerulonephritis is characterized by the neurologic features of CMT, including distal muscle weakness and atrophy and distal sensory loss, and the features of FSGS, including proteinuria, progression to end-stage renal disease, and a characteristic histologic pattern on renal biopsy (summary by Boyer et al., 2011). Isolated focal segmental glomerulosclerosis-5 (FSGS5; 613237) is also caused by heterozygous mutation in the INF2 gene. For a discussion of genetic heterogeneity of CMTDI, see 606482. [from OMIM]

Available tests

1 test is in the database for this condition. See lab offering the test.

Check Associated genes and Related conditions for additional relevant tests.

Associated genes

  • Also known as: hCG_2029577, C14orf151, C14orf173, CMTDIE, FSGS5, pp9484, INF2
    Summary: inverted formin, FH2 and WH2 domain containing

Clinical features

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  • Proteinuria
  • Hyporeflexia
  • Areflexia
  • Distal muscle weakness
  • Axonal loss
  • Distal sensory impairment
  • Onion bulb formation
  • Focal segmental glomerulosclerosis
  • Split hand
  • Pes cavus
  • Hammertoe
  • Stage 5 chronic kidney disease
  • Distal upper limb amyotrophy
  • Distal lower limb amyotrophy
  • Foot dorsiflexor weakness
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