SLC30A10, solute carrier family 30 member 10, 55532

N. diseases: 120; N. variants: 22
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225234
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn 		0.010 GeneticVariation disease BEFREE Bi-allelic mutations in any of these transporter proteins disrupt the manganese equilibrium and lead to neurological disease: Hypermanganesaemia with dystonia 1 (SLC30A10 deficiency) and hypermanganesaemia with dystonia 2 (SLC39A14 deficiency) are characterised by manganese neurotoxicity while SLC39A8 mutations cause a congenital disorder of glycosylation type IIn due to Mn deficiency. 31089831 2019