autosomal recessive limb-girdle muscular dystrophy type 2P

Summary
Synonym
  • LGMD2P
  • MDDGC9
  • muscular dystrophy-dystroglycanopathy (limb-girdle) type C9
  • muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related
Definition
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21.
Super Class
autosomal recessive limb-girdle muscular dystrophy
External Links
Disease Ontology
DOID:0110293
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 41 - 50 of 65 in total
Gene ID Gene Symbol Description Source
8972 MGAM maltase-glucoamylase
9104 RGN regucalcin
9200 HACD1 3-hydroxyacyl-CoA dehydratase 1
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
10020 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
10329 RXYLT1 ribitol xylosyltransferase 1
10585 POMT1 protein O-mannosyltransferase 1
11041 B4GAT1 beta-1,4-glucuronyltransferase 1
22933 SIRT2 sirtuin 2
26033 ATRNL1 attractin like 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
36773 Dg Dystroglycan
The Human Phenotype Ontology
Displaying entries 1 - 10 of 22 in total
HPO ID HPO Term
HP:0003391 Gowers sign
HP:0002465 Poor speech
HP:0006785 Limb-girdle muscular dystrophy
HP:0001270 Motor delay
HP:0003707 Calf muscle pseudohypertrophy
HP:0010864 Intellectual disability, severe
HP:0002938 Lumbar hyperlordosis
HP:0001256 Intellectual disability, mild
HP:0003236 Elevated circulating creatine kinase concentration
HP:0006466 Ankle flexion contracture
Displaying 1 entry
Gene ID Gene Symbol Description
1605 DAG1 dystroglycan 1

About Release Notes Help Feedback

Click here to visit the beta site.


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