MLYCD, malonyl-CoA decarboxylase, 23417

N. diseases: 79; N. variants: 12
Disease: Nephronophthisis, familial juvenile ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855681
Disease: Nephronophthisis, familial juvenile
Nephronophthisis, familial juvenile 		0.010 GeneticVariation disease BEFREE Autosomal dominant medullary cystic kidney disease (ADMCKD; synonym: medullary cystic disease, MCD) is an autosomal dominant kidney disorder, sharing morphological and clinical features with recessive juvenile nephronophthisis (NPH), such as reduced urinary concentration ability and multiple renal cysts at the corticomedullary junction. 9719147 1998