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autosomal recessive limb-girdle muscular dystrophy type 2I

Summary

Synonym

LGMD2I
Limb-girdle muscular dystrophy due to FKRP deficiency
MDDGC5
muscular dystrophy limb-girdle type 2I
muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5
muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related

Definition

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3.

Super Class

autosomal recessive limb-girdle muscular dystrophy

External Links

Disease Ontology

DOID:0110299

Mondo Disease Ontology

ORDO

34515

OMIM

607155

MGI genotype (from TogoID)

Related Genes

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

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
243853	Fkrp	fukutin related protein	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
308390	Fkrp	fukutin related protein	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
37375	CG15651	uncharacterized protein	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
571426	fkrp	fukutin related protein	Alliance of Genome Resources

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source	Organism
100145309	fkrp	fukutin related protein	Alliance of Genome Resources	Xenopus tropicalis (tropical clawed frog)
108698503	fkrp.L	fukutin related protein L homeolog	Alliance of Genome Resources	Xenopus laevis (African clawed frog)

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

Displaying entries **11 - 20** of 30 in total

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HPO ID	HPO Term
HP:0002515	Waddling gait
HP:0009046	Difficulty running
HP:0003236	Elevated circulating creatine kinase concentration
HP:0001644	Dilated cardiomyopathy
HP:0003701	Proximal muscle weakness
HP:0003394	Muscle spasm
HP:0005162	Abnormal left ventricular function
HP:0001771	Achilles tendon contracture
HP:0002948	Vertebral fusion
HP:0000158	Macroglossia