PGM3, phosphoglucomutase 3, 5238

N. diseases: 85; N. variants: 13
Disease: Skeletal dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.030 Biomarker disease BEFREE Unlike the majority of reported PGM3 deficient patients she lacked skeletal dysplasia and had normal neurocognitive development. 30157810 2018
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.030 GeneticVariation disease BEFREE Through exome sequencing, we identified a novel homozygous mutation (c.1135T>C; p.Phe379Leu) in PGM3 in two siblings with bone marrow failure, severe combined immunodeficiency, renal and intestinal malformations, and a skeletal dysplasia resembling Desbuquois dysplasia. 28543917 2017
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.030 GeneticVariation disease BEFREE PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. 24931394 2014