autosomal recessive limb-girdle muscular dystrophy type 2U

Summary
Synonym
  • LGMD2U
  • MDDGC7
  • autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
  • muscular dystrophy limb-girdle type 2U
  • muscular dystrophy-dystroglycanopathy (limb-girdle) type C7
Definition
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21.
Super Class
autosomal recessive limb-girdle muscular dystrophy
External Links
Disease Ontology
DOID:0110295
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
The Human Phenotype Ontology
Displaying entries 21 - 22 of 22 in total
HPO ID HPO Term
HP:0011463 Childhood onset
HP:0001324 Muscle weakness
Displaying 1 entry
Gene ID Gene Symbol Description
729920 CRPPA CDP-L-ribitol pyrophosphorylase A

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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