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 11 - 20 of 65 in total
Gene ID Gene Symbol Description Source
1120 CHKB choline kinase beta
1497 CTNS cystinosin, lysosomal cystine transporter
1605 DAG1 dystroglycan 1
1634 DCN decorin
1636 ACE angiotensin I converting enzyme
1800 DPEP1 dipeptidase 1
2023 ENO1 enolase 1
2218 FKTN fukutin
2548 GAA alpha glucosidase
2710 GK glycerol kinase
The Human Phenotype Ontology
Displaying entries 11 - 20 of 22 in total
HPO ID HPO Term
HP:0001626 Abnormality of the cardiovascular system
HP:0008997 Proximal muscle weakness in upper limbs
HP:0002792 Reduced vital capacity
HP:0003691 Scapular winging
HP:0006785 Limb-girdle muscular dystrophy
HP:0008981 Calf muscle hypertrophy
HP:0003677 Slowly progressive
HP:0000007 Autosomal recessive inheritance
HP:0007340 Lower limb muscle weakness
HP:0003236 Elevated circulating creatine kinase concentration
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