Gamstorp-Wohlfart syndrome

Summary
Synonym
  • autosomal recessive neuromyotonia and axonal neuropathy
  • myokymia, myotonia and muscle wasting
Definition
A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs.
Super Class
syndrome
External Links
Disease Ontology
DOID:0050526
Mondo Disease Ontology
OMIM
GARD
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
43 ACHE acetylcholinesterase (Yt blood group)
5286 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha
6900 CNTN2 contactin 2
Related Glycoprotein

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024