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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

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)

The Human Phenotype Ontology

Displaying entries **1 - 10** of 30 in total

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HPO ID	HPO Term
HP:0003547	Shoulder girdle muscle weakness
HP:0002359	Frequent falls
HP:0003749	Pelvic girdle muscle weakness
HP:0001290	Generalized hypotonia
HP:0003560	Muscular dystrophy
HP:0008981	Calf muscle hypertrophy
HP:0002650	Scoliosis
HP:0001270	Motor delay
HP:0003551	Difficulty climbing stairs
HP:0005109	Abnormality of the Achilles tendon