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 21 - 30 of 65 in total
Gene ID Gene Symbol Description Source
2720 GLB1 galactosidase beta 1
3339 HSPG2 heparan sulfate proteoglycan 2
3418 IDH2 isocitrate dehydrogenase (NADP(+)) 2
3612 IMPA1 inositol monophosphatase 1
3633 INPP5B inositol polyphosphate-5-phosphatase B
3958 LGALS3 galectin 3
4153 MBL2 mannose binding lectin 2
5286 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha
5373 PMM2 phosphomannomutase 2
5553 PRG2 proteoglycan 2, pro eosinophil major basic protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
36773 Dg Dystroglycan
The Human Phenotype Ontology
Displaying entries 11 - 20 of 22 in total
HPO ID HPO Term
HP:0002317 Unsteady gait
HP:0008981 Calf muscle hypertrophy
HP:0002515 Waddling gait
HP:0003551 Difficulty climbing stairs
HP:0001263 Global developmental delay
HP:0003560 Muscular dystrophy
HP:0000750 Delayed speech and language development
HP:0011463 Childhood onset
HP:0002355 Difficulty walking
HP:0000007 Autosomal recessive inheritance
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