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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

MONDO:0014977

ORDO

480682

OMIM

617232

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
56983	POGLUT1	protein O-glucosyltransferase 1	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
224143	Poglut1	protein O-glucosyltransferase 1	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
288091	Poglut1	protein O-glucosyltransferase 1	Alliance of Genome Resources

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source
42698	CG31139	uncharacterized protein	Alliance of Genome Resources
326122	rumi	rumi	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
641495	poglut1	protein O-glucosyltransferase 1	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 11 in total

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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