OMIA 001917 : Polyneuropathy, ARHGEF10-related

Possible human homologues (MIM numbers): 608236 (trait) , 608136 (gene)

Cross-species summary: An inherited polyneuropathy observed in Leonberger and Saint Bernard dogs has clinical similarities to a genetically heterogeneous group of peripheral neuropathies termed Charcot-Marie-Tooth (CMT) disease in humans. The Leonberger disorder is a severe, juvenile-onset, chronic, progressive, and mixed polyneuropathy, characterized by exercise intolerance, gait abnormalities and muscle atrophy of the pelvic limbs, as well as inspiratory stridor and dyspnea.

Species in which this phene is found:
dog (Canis lupus familiaris)

Edit History

  • Created by Tosso Leeb on 02 Apr 2014
  • Changed by Frank Nicholas on 04 Oct 2014
  • Changed by Tosso Leeb on 16 Oct 2014
  • Changed by Frank Nicholas on 31 Aug 2017
  • Changed by Frank Nicholas on 01 Sep 2017
  • Changed by Imke Tammen2 on 01 Sep 2021