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 61 - 65 of 65 in total
Gene ID Gene Symbol Description Source
84892 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
120071 LARGE2 LARGE xylosyl- and glucuronyltransferase 2
124872 B4GALNT2 beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group)
148789 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
729920 CRPPA CDP-L-ribitol pyrophosphorylase A
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

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024