Charcot-Marie-Tooth Disease, Dominant Intermediate E

Alternative Names

  • Charcot-Marie-Tooth Neuropathy With Focal Segmental Glomerulonephritis

Associated Genes

Inverted Formin 2
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WHO-ICD-10 version:2010

Diseases of the nervous system

Polyneuropathies and other disorders of the peripheral nervous system

OMIM Number


Mode of Inheritance

Autosomal dominant

Gene Map Locus



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. Isolated focal segmental glomerulosclerosis-5 is also caused by heterozygous mutation in the INF2 gene [From OMIM].

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
614455.1LebanonUnknownNoNM_022489.4:c.312C>GHeterozygousAutosomal, DominantMegarbane et al. 2022 Clinical features no...
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