autosomal recessive limb-girdle muscular dystrophy type 2F

Summary
Synonym
  • LGMD2F
  • delta-sarcoglycanopathy
  • limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency
Definition
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the sarcoglycan-delta gene (SGCD).
Super Class
autosomal recessive limb-girdle muscular dystrophy
Disease Ontology
DOID:0110280
Mondo Disease Ontology
ORDO
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6444 SGCD sarcoglycan delta
Displaying 1 entry
Gene ID Gene Symbol Description Source
24052 Sgcd sarcoglycan, delta (dystrophin-associated glycoprotein)
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q92629 Delta-sarcoglycan
Displaying 1 entry
UniProt ID Protein Name Source
P82347 Delta-sarcoglycan

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 v4.2.1

Last updated: April 7, 2025