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Standards Ontologies Notations
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 31 - 40 of 65 in total
Gene ID Gene Symbol Description Source
5563 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2
5837 PYGM glycogen phosphorylase, muscle associated
6383 SDC2 syndecan 2
6476 SI sucrase-isomaltase
6484 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4
6519 SLC3A1 solute carrier family 3 member 1
8813 DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic
8818 DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory
8867 SYNJ1 synaptojanin 1
8871 SYNJ2 synaptojanin 2
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)
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 21 - 30 of 30 in total
HPO ID HPO Term
HP:0003307 Hyperlordosis
HP:0002355 Difficulty walking
HP:0002808 Kyphosis
HP:0000007 Autosomal recessive inheritance
HP:0002877 Nocturnal hypoventilation
HP:0003828 Variable expressivity
HP:0003326 Myalgia
HP:0008305 Exercise-induced myoglobinuria
HP:0002091 Restrictive ventilatory defect
HP:0003733 Thigh hypertrophy
Displaying 1 entry
Gene ID Gene Symbol Description
79147 FKRP fukutin related protein
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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