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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

280333

OMIM

613818

MGI genotype (from TogoID)

4940545

Related Genes

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Gene ID	Gene Symbol	Description	Source
5563	PRKAA2	protein kinase AMP-activated catalytic subunit alpha 2	DisGeNET
5837	PYGM	glycogen phosphorylase, muscle associated	DisGeNET
6383	SDC2	syndecan 2	DisGeNET DisGeNET
6476	SI	sucrase-isomaltase	DisGeNET
6484	ST3GAL4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	DisGeNET
6519	SLC3A1	solute carrier family 3 member 1	DisGeNET
8813	DPM1	dolichyl-phosphate mannosyltransferase subunit 1, catalytic	DisGeNET DisGeNET
8818	DPM2	dolichyl-phosphate mannosyltransferase subunit 2, regulatory	DisGeNET
8867	SYNJ1	synaptojanin 1	DisGeNET
8871	SYNJ2	synaptojanin 2	DisGeNET

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
36773	Dg	Dystroglycan	Alliance of Genome Resources

Related Glycoprotein

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UniProt ID	Protein Name	Source
B0YJ81	Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1	DisGeNET
O00443	Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha	DisGeNET DisGeNET
O15056	Synaptojanin-2	DisGeNET
O15305	Phosphomannomutase 2	DisGeNET
O43426	Synaptojanin-1	DisGeNET
O43451	Maltase-glucoamylase	DisGeNET
O43505	Beta-1,4-glucuronyltransferase 1	DisGeNET
O60760	Hematopoietic prostaglandin D synthase	DisGeNET
O60762	Dolichol-phosphate mannosyltransferase subunit 1	DisGeNET DisGeNET
O60931	Cystinosin	DisGeNET

The Human Phenotype Ontology

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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