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 1 - 10 of 65 in total
Gene ID Gene Symbol Description Source
43 ACHE acetylcholinesterase (Yt blood group)
142 PARP1 poly(ADP-ribose) polymerase 1
176 ACAN aggrecan
178 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
239 ALOX12 arachidonate 12-lipoxygenase, 12S type
250 ALPP alkaline phosphatase, placental
353 APRT adenine phosphoribosyltransferase
501 ALDH7A1 aldehyde dehydrogenase 7 family member A1
960 CD44 CD44 molecule (IN blood group)
1119 CHKA choline kinase alpha
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

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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