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
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 41 - 50 of 65 in total
Gene ID Gene Symbol Description Source
8972 MGAM maltase-glucoamylase
9104 RGN regucalcin
9200 HACD1 3-hydroxyacyl-CoA dehydratase 1
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
10020 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
10329 RXYLT1 ribitol xylosyltransferase 1
10585 POMT1 protein O-mannosyltransferase 1
11041 B4GAT1 beta-1,4-glucuronyltransferase 1
22933 SIRT2 sirtuin 2
26033 ATRNL1 attractin like 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
243853 Fkrp fukutin related protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
308390 Fkrp fukutin related protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
37375 CG15651 uncharacterized protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
571426 fkrp fukutin related protein
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
100145309 fkrp fukutin related protein Xenopus tropicalis (tropical clawed frog)
108698503 fkrp.L fukutin related protein L homeolog Xenopus laevis (African clawed frog)
The Human Phenotype Ontology
Displaying entries 11 - 20 of 30 in total
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
Displaying 1 entry
Gene ID Gene Symbol Description
79147 FKRP fukutin related protein

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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