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 61 - 65 of 65 in total
Gene ID Gene Symbol Description Source
84892 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
120071 LARGE2 LARGE xylosyl- and glucuronyltransferase 2
124872 B4GALNT2 beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group)
148789 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
729920 CRPPA CDP-L-ribitol pyrophosphorylase A
The Human Phenotype Ontology
Displaying entries 1 - 10 of 22 in total
HPO ID HPO Term
HP:0003326 Myalgia
HP:0002505 Loss of ambulation
HP:0008994 Proximal muscle weakness in lower limbs
HP:0000478 Abnormality of the eye
HP:0003707 Calf muscle pseudohypertrophy
HP:0011446 Abnormality of mental function
HP:0003202 Skeletal muscle atrophy
HP:0000158 Macroglossia
HP:0003325 Limb-girdle muscle weakness
HP:0008305 Exercise-induced myoglobinuria
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