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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
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 21 - 30 of 65 in total
Gene ID Gene Symbol Description Source
2720 GLB1 galactosidase beta 1
3339 HSPG2 heparan sulfate proteoglycan 2
3418 IDH2 isocitrate dehydrogenase (NADP(+)) 2
3612 IMPA1 inositol monophosphatase 1
3633 INPP5B inositol polyphosphate-5-phosphatase B
3958 LGALS3 galectin 3
4153 MBL2 mannose binding lectin 2
5286 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha
5373 PMM2 phosphomannomutase 2
5553 PRG2 proteoglycan 2, pro eosinophil major basic protein
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 1 - 10 of 30 in total
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
Displaying 1 entry
Gene ID Gene Symbol Description
79147 FKRP fukutin related protein
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International Collaboration

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