autosomal recessive limb-girdle muscular dystrophy type 2Z

Summary
Synonym
  • limb-girdle muscular dystrophy 21
Definition
An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13.
Super Class
autosomal recessive limb-girdle muscular dystrophy
External Links
Disease Ontology
DOID:0080762
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
56983 POGLUT1 protein O-glucosyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
224143 Poglut1 protein O-glucosyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
288091 Poglut1 protein O-glucosyltransferase 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
42698 CG31139 uncharacterized protein
326122 rumi rumi
Displaying 1 entry
Gene ID Gene Symbol Description Source
641495 poglut1 protein O-glucosyltransferase 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 11 in total
HPO ID HPO Term
HP:0003236 Elevated circulating creatine kinase concentration
HP:0006785 Limb-girdle muscular dystrophy
HP:0002091 Restrictive ventilatory defect
HP:0011462 Young adult onset
HP:0003691 Scapular winging
HP:0000007 Autosomal recessive inheritance
HP:0008994 Proximal muscle weakness in lower limbs
HP:0003677 Slowly progressive
HP:0012548 Fatty replacement of skeletal muscle
HP:0002093 Respiratory insufficiency
Displaying 1 entry
Gene ID Gene Symbol Description
56983 POGLUT1 protein O-glucosyltransferase 1

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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