UniProtKB/Swiss-Prot

Charcot-Marie-Tooth disease, dominant, intermediate type, E: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type E is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. Patients additionally manifest focal segmental glomerulonephritis, proteinuria, progression to end- stage renal disease, and a characteristic histologic pattern on renal biopsy.

MalaCards based summary

Charcot-Marie-Tooth Disease, Dominant Intermediate E, also known as cmtdie, is related to focal segmental glomerulosclerosis 5, and has symptoms including proteinuria, pes cavus and areflexia. An important gene associated with Charcot-Marie-Tooth Disease, Dominant Intermediate E is INF2 (Inverted Formin, FH2 And WH2 Domain Containing). Affiliated tissues include kidney, and related phenotypes are Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance and Decreased viability

Disease Ontology

A Charcot-Marie-Tooth disease intermediate type that has material basis in heterozygous mutation in the INF2 gene on chromosome 14q32.

OMIM

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. (614455)