CLDN16, claudin 16, 10686

N. diseases: 62; N. variants: 23
Disease: Manz syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268451
Disease: Manz syndrome
Manz syndrome 		0.020 GeneticVariation disease BEFREE Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: a case report. 30005619 2018
CUI: C0268451
Disease: Manz syndrome
Manz syndrome 		0.020 GeneticVariation disease BEFREE Familial hypomagnesemia, hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive inherited disorder that has recently been attributed to a defect in the paracellin-1 ( PCLN-1)gene, encoding for a protein responsible for the tubular reabsorption of magnesium and calcium. 12185465 2002